Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.55698392C>ACA385190010ITGA7c.*807G>T (n.*807G>T)
c.47G>T
n.47G>T
c.709G>T (p.Gly237Cys)
c.1195G>T (p.Gly399Cys)
c.*894G>T (n.*894G>T)
c.1063G>T (p.Gly355Cys)
c.80G>T
c.1183G>T (p.Gly395Cys)
c.904G>T (p.Gly302Cys)
c.1315G>T (p.Gly439Cys)
c.272+318G>T (n.272+318G>T)
c.976G>T (p.Gly326Cys)
c.844G>T (p.Gly282Cys)
c.841G>T (p.Gly281Cys)
c.925G>T (p.Gly309Cys)
c.856G>T (p.Gly286Cys)
c.-110G>T (n.-110G>T)
12g.55698392C>GCA385190012ITGA7c.*807G>C (n.*807G>C)
c.47G>C
n.47G>C
c.709G>C (p.Gly237Arg)
c.1195G>C (p.Gly399Arg)
c.*894G>C (n.*894G>C)
c.1063G>C (p.Gly355Arg)
c.80G>C
c.1183G>C (p.Gly395Arg)
c.904G>C (p.Gly302Arg)
c.1315G>C (p.Gly439Arg)
c.272+318G>C (n.272+318G>C)
c.976G>C (p.Gly326Arg)
c.844G>C (p.Gly282Arg)
c.841G>C (p.Gly281Arg)
c.925G>C (p.Gly309Arg)
c.856G>C (p.Gly286Arg)
c.-110G>C (n.-110G>C)
12g.55698392C>TCA385190011ITGA7c.*807G>A (n.*807G>A)
c.47G>A
n.47G>A
c.709G>A (p.Gly237Ser)
c.1195G>A (p.Gly399Ser)
c.*894G>A (n.*894G>A)
c.1063G>A (p.Gly355Ser)
c.80G>A
c.1183G>A (p.Gly395Ser)
c.904G>A (p.Gly302Ser)
c.1315G>A (p.Gly439Ser)
c.272+318G>A (n.272+318G>A)
c.976G>A (p.Gly326Ser)
c.844G>A (p.Gly282Ser)
c.841G>A (p.Gly281Ser)
c.925G>A (p.Gly309Ser)
c.856G>A (p.Gly286Ser)
c.-110G>A (n.-110G>A)
12g.55698393A>CCA385190013ITGA7c.*806T>G (n.*806T>G)
c.46T>G
n.46T>G
c.708T>G (p.Asp236Glu)
c.1194T>G (p.Asp398Glu)
c.*893T>G (n.*893T>G)
c.1062T>G (p.Asp354Glu)
c.79T>G
c.1182T>G (p.Asp394Glu)
c.903T>G (p.Asp301Glu)
c.1314T>G (p.Asp438Glu)
c.272+317T>G (n.272+317T>G)
c.975T>G (p.Asp325Glu)
c.843T>G (p.Asp281Glu)
c.840T>G (p.Asp280Glu)
c.924T>G (p.Asp308Glu)
c.855T>G (p.Asp285Glu)
c.-111T>G (n.-111T>G)
12g.55698393A>GCA480149468ITGA7c.*806T>C (n.*806T>C)
c.46T>C
n.46T>C
c.708T>C (p.Asp236=)
c.1194T>C (p.Asp398=)
c.*893T>C (n.*893T>C)
c.1062T>C (p.Asp354=)
c.79T>C
c.1182T>C (p.Asp394=)
c.903T>C (p.Asp301=)
c.1314T>C (p.Asp438=)
c.272+317T>C (n.272+317T>C)
c.975T>C (p.Asp325=)
c.843T>C (p.Asp281=)
c.840T>C (p.Asp280=)
c.924T>C (p.Asp308=)
c.855T>C (p.Asp285=)
c.-111T>C (n.-111T>C)
12g.55698393A>TCA385190014ITGA7c.*806T>A (n.*806T>A)
c.46T>A
n.46T>A
c.708T>A (p.Asp236Glu)
c.1194T>A (p.Asp398Glu)
c.*893T>A (n.*893T>A)
c.1062T>A (p.Asp354Glu)
c.79T>A
c.1182T>A (p.Asp394Glu)
c.903T>A (p.Asp301Glu)
c.1314T>A (p.Asp438Glu)
c.272+317T>A (n.272+317T>A)
c.975T>A (p.Asp325Glu)
c.843T>A (p.Asp281Glu)
c.840T>A (p.Asp280Glu)
c.924T>A (p.Asp308Glu)
c.855T>A (p.Asp285Glu)
c.-111T>A (n.-111T>A)
12g.55698393_55698397delCA2619202356ITGA7c.*802_*806del (n.*802_*806del)
c.42_46del
n.42_46del
c.704_708del (p.Gln235ArgfsTer12)
c.1190_1194del (p.Gln397ArgfsTer12)
c.*889_*893del (n.*889_*893del)
c.1058_1062del (p.Gln353ArgfsTer12)
c.75_79del
c.1178_1182del (p.Gln393ArgfsTer12)
c.899_903del (p.Gln300ArgfsTer12)
c.1310_1314del (p.Gln437ArgfsTer12)
c.272+313_272+317del (n.272+313_272+317del)
c.971_975del (p.Gln324ArgfsTer12)
c.839_843del (p.Gln280ArgfsTer12)
c.836_840del (p.Gln279ArgfsTer12)
c.920_924del (p.Gln307ArgfsTer12)
c.851_855del (p.Gln284ArgfsTer12)
c.-115_-111del (n.-115_-111del)
 gnomAD v4
12g.55698394T>ACA385190015ITGA7c.*805A>T (n.*805A>T)
c.45A>T
n.45A>T
c.707A>T (p.Asp236Val)
c.1193A>T (p.Asp398Val)
c.*892A>T (n.*892A>T)
c.1061A>T (p.Asp354Val)
c.78A>T
c.1181A>T (p.Asp394Val)
c.902A>T (p.Asp301Val)
c.1313A>T (p.Asp438Val)
c.272+316A>T (n.272+316A>T)
c.974A>T (p.Asp325Val)
c.842A>T (p.Asp281Val)
c.839A>T (p.Asp280Val)
c.923A>T (p.Asp308Val)
c.854A>T (p.Asp285Val)
c.-112A>T (n.-112A>T)
12g.55698394T>CCA385190016ITGA7c.*805A>G (n.*805A>G)
c.45A>G
n.45A>G
c.707A>G (p.Asp236Gly)
c.1193A>G (p.Asp398Gly)
c.*892A>G (n.*892A>G)
c.1061A>G (p.Asp354Gly)
c.78A>G
c.1181A>G (p.Asp394Gly)
c.902A>G (p.Asp301Gly)
c.1313A>G (p.Asp438Gly)
c.272+316A>G (n.272+316A>G)
c.974A>G (p.Asp325Gly)
c.842A>G (p.Asp281Gly)
c.839A>G (p.Asp280Gly)
c.923A>G (p.Asp308Gly)
c.854A>G (p.Asp285Gly)
c.-112A>G (n.-112A>G)
12g.55698394T>GCA385190017ITGA7c.*805A>C (n.*805A>C)
c.45A>C
n.45A>C
c.707A>C (p.Asp236Ala)
c.1193A>C (p.Asp398Ala)
c.*892A>C (n.*892A>C)
c.1061A>C (p.Asp354Ala)
c.78A>C
c.1181A>C (p.Asp394Ala)
c.902A>C (p.Asp301Ala)
c.1313A>C (p.Asp438Ala)
c.272+316A>C (n.272+316A>C)
c.974A>C (p.Asp325Ala)
c.842A>C (p.Asp281Ala)
c.839A>C (p.Asp280Ala)
c.923A>C (p.Asp308Ala)
c.854A>C (p.Asp285Ala)
c.-112A>C (n.-112A>C)
12g.55698394dupCA2619202366ITGA7c.*805dup (n.*805dup)
c.45dup
n.45dup
c.707dup (p.Asp236GlufsTer13)
c.1193dup (p.Asp398GlufsTer13)
c.*892dup (n.*892dup)
c.1061dup (p.Asp354GlufsTer13)
c.78dup
c.1181dup (p.Asp394GlufsTer13)
c.902dup (p.Asp301GlufsTer13)
c.1313dup (p.Asp438GlufsTer13)
c.272+316dup (n.272+316dup)
c.974dup (p.Asp325GlufsTer13)
c.842dup (p.Asp281GlufsTer13)
c.839dup (p.Asp280GlufsTer13)
c.923dup (p.Asp308GlufsTer13)
c.854dup (p.Asp285GlufsTer13)
c.-112dup (n.-112dup)
 gnomAD v4
12g.55698395C>ACA385190018ITGA7c.*804G>T (n.*804G>T)
c.44G>T
n.44G>T
c.706G>T (p.Asp236Tyr)
c.1192G>T (p.Asp398Tyr)
c.*891G>T (n.*891G>T)
c.1060G>T (p.Asp354Tyr)
c.77G>T
c.1180G>T (p.Asp394Tyr)
c.901G>T (p.Asp301Tyr)
c.1312G>T (p.Asp438Tyr)
c.272+315G>T (n.272+315G>T)
c.973G>T (p.Asp325Tyr)
c.841G>T (p.Asp281Tyr)
c.838G>T (p.Asp280Tyr)
c.922G>T (p.Asp308Tyr)
c.853G>T (p.Asp285Tyr)
c.-113G>T (n.-113G>T)
 gnomAD v4
12g.55698395C=CA2038044362ITGA7c.*804G= (n.*804G=)
c.44G=
n.44G=
c.706G= (p.Asp236=)
c.1192G= (p.Asp398=)
c.*891G= (n.*891G=)
c.1060G= (p.Asp354=)
c.77G=
c.1180G= (p.Asp394=)
c.901G= (p.Asp301=)
c.1312G= (p.Asp438=)
c.272+315G= (n.272+315G=)
c.973G= (p.Asp325=)
c.841G= (p.Asp281=)
c.838G= (p.Asp280=)
c.922G= (p.Asp308=)
c.853G= (p.Asp285=)
c.-113G= (n.-113G=)
12g.55698395C>GCA385190019ITGA7c.*804G>C (n.*804G>C)
c.44G>C
n.44G>C
c.706G>C (p.Asp236His)
c.1192G>C (p.Asp398His)
c.*891G>C (n.*891G>C)
c.1060G>C (p.Asp354His)
c.77G>C
c.1180G>C (p.Asp394His)
c.901G>C (p.Asp301His)
c.1312G>C (p.Asp438His)
c.272+315G>C (n.272+315G>C)
c.973G>C (p.Asp325His)
c.841G>C (p.Asp281His)
c.838G>C (p.Asp280His)
c.922G>C (p.Asp308His)
c.853G>C (p.Asp285His)
c.-113G>C (n.-113G>C)
12g.55698395C>TCA385190020ITGA7c.*804G>A (n.*804G>A)
c.44G>A
n.44G>A
c.706G>A (p.Asp236Asn)
c.1192G>A (p.Asp398Asn)
c.*891G>A (n.*891G>A)
c.1060G>A (p.Asp354Asn)
c.77G>A
c.1180G>A (p.Asp394Asn)
c.901G>A (p.Asp301Asn)
c.1312G>A (p.Asp438Asn)
c.272+315G>A (n.272+315G>A)
c.973G>A (p.Asp325Asn)
c.841G>A (p.Asp281Asn)
c.838G>A (p.Asp280Asn)
c.922G>A (p.Asp308Asn)
c.853G>A (p.Asp285Asn)
c.-113G>A (n.-113G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.55698396T>ACA385190021ITGA7c.*803A>T (n.*803A>T)
c.43A>T
n.43A>T
c.705A>T (p.Gln235His)
c.1191A>T (p.Gln397His)
c.*890A>T (n.*890A>T)
c.1059A>T (p.Gln353His)
c.76A>T
c.1179A>T (p.Gln393His)
c.900A>T (p.Gln300His)
c.1311A>T (p.Gln437His)
c.272+314A>T (n.272+314A>T)
c.972A>T (p.Gln324His)
c.840A>T (p.Gln280His)
c.837A>T (p.Gln279His)
c.921A>T (p.Gln307His)
c.852A>T (p.Gln284His)
c.-114A>T (n.-114A>T)
12g.55698396T>CCA480149469ITGA7c.*803A>G (n.*803A>G)
c.43A>G
n.43A>G
c.705A>G (p.Gln235=)
c.1191A>G (p.Gln397=)
c.*890A>G (n.*890A>G)
c.1059A>G (p.Gln353=)
c.76A>G
c.1179A>G (p.Gln393=)
c.900A>G (p.Gln300=)
c.1311A>G (p.Gln437=)
c.272+314A>G (n.272+314A>G)
c.972A>G (p.Gln324=)
c.840A>G (p.Gln280=)
c.837A>G (p.Gln279=)
c.921A>G (p.Gln307=)
c.852A>G (p.Gln284=)
c.-114A>G (n.-114A>G)
12g.55698396T>GCA385190022ITGA7c.*803A>C (n.*803A>C)
c.43A>C
n.43A>C
c.705A>C (p.Gln235His)
c.1191A>C (p.Gln397His)
c.*890A>C (n.*890A>C)
c.1059A>C (p.Gln353His)
c.76A>C
c.1179A>C (p.Gln393His)
c.900A>C (p.Gln300His)
c.1311A>C (p.Gln437His)
c.272+314A>C (n.272+314A>C)
c.972A>C (p.Gln324His)
c.840A>C (p.Gln280His)
c.837A>C (p.Gln279His)
c.921A>C (p.Gln307His)
c.852A>C (p.Gln284His)
c.-114A>C (n.-114A>C)
12g.55698397T>ACA385190024ITGA7c.*802A>T (n.*802A>T)
c.42A>T
n.42A>T
c.704A>T (p.Gln235Leu)
c.1190A>T (p.Gln397Leu)
c.*889A>T (n.*889A>T)
c.1058A>T (p.Gln353Leu)
c.75A>T
c.1178A>T (p.Gln393Leu)
c.899A>T (p.Gln300Leu)
c.1310A>T (p.Gln437Leu)
c.272+313A>T (n.272+313A>T)
c.971A>T (p.Gln324Leu)
c.839A>T (p.Gln280Leu)
c.836A>T (p.Gln279Leu)
c.920A>T (p.Gln307Leu)
c.851A>T (p.Gln284Leu)
c.-115A>T (n.-115A>T)
12g.55698397T>CCA385190025ITGA7c.*802A>G (n.*802A>G)
c.42A>G
n.42A>G
c.704A>G (p.Gln235Arg)
c.1190A>G (p.Gln397Arg)
c.*889A>G (n.*889A>G)
c.1058A>G (p.Gln353Arg)
c.75A>G
c.1178A>G (p.Gln393Arg)
c.899A>G (p.Gln300Arg)
c.1310A>G (p.Gln437Arg)
c.272+313A>G (n.272+313A>G)
c.971A>G (p.Gln324Arg)
c.839A>G (p.Gln280Arg)
c.836A>G (p.Gln279Arg)
c.920A>G (p.Gln307Arg)
c.851A>G (p.Gln284Arg)
c.-115A>G (n.-115A>G)
12g.55698397T>GCA385190023ITGA7c.*802A>C (n.*802A>C)
c.42A>C
n.42A>C
c.704A>C (p.Gln235Pro)
c.1190A>C (p.Gln397Pro)
c.*889A>C (n.*889A>C)
c.1058A>C (p.Gln353Pro)
c.75A>C
c.1178A>C (p.Gln393Pro)
c.899A>C (p.Gln300Pro)
c.1310A>C (p.Gln437Pro)
c.272+313A>C (n.272+313A>C)
c.971A>C (p.Gln324Pro)
c.839A>C (p.Gln280Pro)
c.836A>C (p.Gln279Pro)
c.920A>C (p.Gln307Pro)
c.851A>C (p.Gln284Pro)
c.-115A>C (n.-115A>C)
12g.55698398G>ACA385190026ITGA7c.*801C>T (n.*801C>T)
c.41C>T
n.41C>T
c.703C>T (p.Gln235Ter)
c.1189C>T (p.Gln397Ter)
c.*888C>T (n.*888C>T)
c.1057C>T (p.Gln353Ter)
c.74C>T
c.1177C>T (p.Gln393Ter)
c.898C>T (p.Gln300Ter)
c.1309C>T (p.Gln437Ter)
c.272+312C>T (n.272+312C>T)
c.970C>T (p.Gln324Ter)
c.838C>T (p.Gln280Ter)
c.835C>T (p.Gln279Ter)
c.919C>T (p.Gln307Ter)
c.850C>T (p.Gln284Ter)
c.-116C>T (n.-116C>T)
 gnomAD v4
12g.55698398G>CCA385190028ITGA7c.*801C>G (n.*801C>G)
c.41C>G
n.41C>G
c.703C>G (p.Gln235Glu)
c.1189C>G (p.Gln397Glu)
c.*888C>G (n.*888C>G)
c.1057C>G (p.Gln353Glu)
c.74C>G
c.1177C>G (p.Gln393Glu)
c.898C>G (p.Gln300Glu)
c.1309C>G (p.Gln437Glu)
c.272+312C>G (n.272+312C>G)
c.970C>G (p.Gln324Glu)
c.838C>G (p.Gln280Glu)
c.835C>G (p.Gln279Glu)
c.919C>G (p.Gln307Glu)
c.850C>G (p.Gln284Glu)
c.-116C>G (n.-116C>G)
12g.55698398G>TCA385190027ITGA7c.*801C>A (n.*801C>A)
c.41C>A
n.41C>A
c.703C>A (p.Gln235Lys)
c.1189C>A (p.Gln397Lys)
c.*888C>A (n.*888C>A)
c.1057C>A (p.Gln353Lys)
c.74C>A
c.1177C>A (p.Gln393Lys)
c.898C>A (p.Gln300Lys)
c.1309C>A (p.Gln437Lys)
c.272+312C>A (n.272+312C>A)
c.970C>A (p.Gln324Lys)
c.838C>A (p.Gln280Lys)
c.835C>A (p.Gln279Lys)
c.919C>A (p.Gln307Lys)
c.850C>A (p.Gln284Lys)
c.-116C>A (n.-116C>A)
12g.55698399G>ACA6616041ITGA7c.*800C>T (n.*800C>T)
c.40C>T
n.40C>T
c.702C>T (p.Asn234=)
c.1188C>T (p.Asn396=)
c.*887C>T (n.*887C>T)
c.1056C>T (p.Asn352=)
c.73C>T
c.1176C>T (p.Asn392=)
c.897C>T (p.Asn299=)
c.1308C>T (p.Asn436=)
c.272+311C>T (n.272+311C>T)
c.969C>T (p.Asn323=)
c.837C>T (p.Asn279=)
c.834C>T (p.Asn278=)
c.918C>T (p.Asn306=)
c.849C>T (p.Asn283=)
c.-117C>T (n.-117C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698399G>CCA385190030ITGA7c.*800C>G (n.*800C>G)
c.40C>G
n.40C>G
c.702C>G (p.Asn234Lys)
c.1188C>G (p.Asn396Lys)
c.*887C>G (n.*887C>G)
c.1056C>G (p.Asn352Lys)
c.73C>G
c.1176C>G (p.Asn392Lys)
c.897C>G (p.Asn299Lys)
c.1308C>G (p.Asn436Lys)
c.272+311C>G (n.272+311C>G)
c.969C>G (p.Asn323Lys)
c.837C>G (p.Asn279Lys)
c.834C>G (p.Asn278Lys)
c.918C>G (p.Asn306Lys)
c.849C>G (p.Asn283Lys)
c.-117C>G (n.-117C>G)
12g.55698399G=CA2038044363ITGA7c.*800C= (n.*800C=)
c.40C=
n.40C=
c.702C= (p.Asn234=)
c.1188C= (p.Asn396=)
c.*887C= (n.*887C=)
c.1056C= (p.Asn352=)
c.73C=
c.1176C= (p.Asn392=)
c.897C= (p.Asn299=)
c.1308C= (p.Asn436=)
c.272+311C= (n.272+311C=)
c.969C= (p.Asn323=)
c.837C= (p.Asn279=)
c.834C= (p.Asn278=)
c.918C= (p.Asn306=)
c.849C= (p.Asn283=)
c.-117C= (n.-117C=)
12g.55698399G>TCA385190029ITGA7c.*800C>A (n.*800C>A)
c.40C>A
n.40C>A
c.702C>A (p.Asn234Lys)
c.1188C>A (p.Asn396Lys)
c.*887C>A (n.*887C>A)
c.1056C>A (p.Asn352Lys)
c.73C>A
c.1176C>A (p.Asn392Lys)
c.897C>A (p.Asn299Lys)
c.1308C>A (p.Asn436Lys)
c.272+311C>A (n.272+311C>A)
c.969C>A (p.Asn323Lys)
c.837C>A (p.Asn279Lys)
c.834C>A (p.Asn278Lys)
c.918C>A (p.Asn306Lys)
c.849C>A (p.Asn283Lys)
c.-117C>A (n.-117C>A)
12g.55698400_55698404delCA2619202381ITGA7c.*796_*800del (n.*796_*800del)
c.36_40del
n.36_40del
c.698_702del (p.Leu233ProfsTer14)
c.1184_1188del (p.Leu395ProfsTer14)
c.*883_*887del (n.*883_*887del)
c.1052_1056del (p.Leu351ProfsTer14)
c.69_73del
c.1172_1176del (p.Leu391ProfsTer14)
c.893_897del (p.Leu298ProfsTer14)
c.1304_1308del (p.Leu435ProfsTer14)
c.272+307_272+311del (n.272+307_272+311del)
c.965_969del (p.Leu322ProfsTer14)
c.833_837del (p.Leu278ProfsTer14)
c.830_834del (p.Leu277ProfsTer14)
c.914_918del (p.Leu305ProfsTer14)
c.845_849del (p.Leu282ProfsTer14)
c.-121_-117del (n.-121_-117del)
 gnomAD v4
12g.55698400T>ACA385190031ITGA7c.*799A>T (n.*799A>T)
c.39A>T
n.39A>T
c.701A>T (p.Asn234Ile)
c.1187A>T (p.Asn396Ile)
c.*886A>T (n.*886A>T)
c.1055A>T (p.Asn352Ile)
c.72A>T
c.1175A>T (p.Asn392Ile)
c.896A>T (p.Asn299Ile)
c.1307A>T (p.Asn436Ile)
c.272+310A>T (n.272+310A>T)
c.968A>T (p.Asn323Ile)
c.836A>T (p.Asn279Ile)
c.833A>T (p.Asn278Ile)
c.917A>T (p.Asn306Ile)
c.848A>T (p.Asn283Ile)
c.-118A>T (n.-118A>T)
12g.55698400T>CCA385190032ITGA7c.*799A>G (n.*799A>G)
c.39A>G
n.39A>G
c.701A>G (p.Asn234Ser)
c.1187A>G (p.Asn396Ser)
c.*886A>G (n.*886A>G)
c.1055A>G (p.Asn352Ser)
c.72A>G
c.1175A>G (p.Asn392Ser)
c.896A>G (p.Asn299Ser)
c.1307A>G (p.Asn436Ser)
c.272+310A>G (n.272+310A>G)
c.968A>G (p.Asn323Ser)
c.836A>G (p.Asn279Ser)
c.833A>G (p.Asn278Ser)
c.917A>G (p.Asn306Ser)
c.848A>G (p.Asn283Ser)
c.-118A>G (n.-118A>G)
12g.55698400T>GCA385190033ITGA7c.*799A>C (n.*799A>C)
c.39A>C
n.39A>C
c.701A>C (p.Asn234Thr)
c.1187A>C (p.Asn396Thr)
c.*886A>C (n.*886A>C)
c.1055A>C (p.Asn352Thr)
c.72A>C
c.1175A>C (p.Asn392Thr)
c.896A>C (p.Asn299Thr)
c.1307A>C (p.Asn436Thr)
c.272+310A>C (n.272+310A>C)
c.968A>C (p.Asn323Thr)
c.836A>C (p.Asn279Thr)
c.833A>C (p.Asn278Thr)
c.917A>C (p.Asn306Thr)
c.848A>C (p.Asn283Thr)
c.-118A>C (n.-118A>C)
12g.55698401T>ACA385190034ITGA7c.*798A>T (n.*798A>T)
c.38A>T
n.38A>T
c.700A>T (p.Asn234Tyr)
c.1186A>T (p.Asn396Tyr)
c.*885A>T (n.*885A>T)
c.1054A>T (p.Asn352Tyr)
c.71A>T
c.1174A>T (p.Asn392Tyr)
c.895A>T (p.Asn299Tyr)
c.1306A>T (p.Asn436Tyr)
c.272+309A>T (n.272+309A>T)
c.967A>T (p.Asn323Tyr)
c.835A>T (p.Asn279Tyr)
c.832A>T (p.Asn278Tyr)
c.916A>T (p.Asn306Tyr)
c.847A>T (p.Asn283Tyr)
c.-119A>T (n.-119A>T)
12g.55698401T>CCA385190035ITGA7c.*798A>G (n.*798A>G)
c.38A>G
n.38A>G
c.700A>G (p.Asn234Asp)
c.1186A>G (p.Asn396Asp)
c.*885A>G (n.*885A>G)
c.1054A>G (p.Asn352Asp)
c.71A>G
c.1174A>G (p.Asn392Asp)
c.895A>G (p.Asn299Asp)
c.1306A>G (p.Asn436Asp)
c.272+309A>G (n.272+309A>G)
c.967A>G (p.Asn323Asp)
c.835A>G (p.Asn279Asp)
c.832A>G (p.Asn278Asp)
c.916A>G (p.Asn306Asp)
c.847A>G (p.Asn283Asp)
c.-119A>G (n.-119A>G)
12g.55698401T>GCA385190036ITGA7c.*798A>C (n.*798A>C)
c.38A>C
n.38A>C
c.700A>C (p.Asn234His)
c.1186A>C (p.Asn396His)
c.*885A>C (n.*885A>C)
c.1054A>C (p.Asn352His)
c.71A>C
c.1174A>C (p.Asn392His)
c.895A>C (p.Asn299His)
c.1306A>C (p.Asn436His)
c.272+309A>C (n.272+309A>C)
c.967A>C (p.Asn323His)
c.835A>C (p.Asn279His)
c.832A>C (p.Asn278His)
c.916A>C (p.Asn306His)
c.847A>C (p.Asn283His)
c.-119A>C (n.-119A>C)
 gnomAD v4
12g.55698402G>ACA480149471ITGA7c.*797C>T (n.*797C>T)
c.37C>T
n.37C>T
c.699C>T (p.Leu233=)
c.1185C>T (p.Leu395=)
c.*884C>T (n.*884C>T)
c.1053C>T (p.Leu351=)
c.70C>T
c.1173C>T (p.Leu391=)
c.894C>T (p.Leu298=)
c.1305C>T (p.Leu435=)
c.272+308C>T (n.272+308C>T)
c.966C>T (p.Leu322=)
c.834C>T (p.Leu278=)
c.831C>T (p.Leu277=)
c.915C>T (p.Leu305=)
c.846C>T (p.Leu282=)
c.-120C>T (n.-120C>T)
 dbSNP
12g.55698402G>CCA480149472ITGA7c.*797C>G (n.*797C>G)
c.37C>G
n.37C>G
c.699C>G (p.Leu233=)
c.1185C>G (p.Leu395=)
c.*884C>G (n.*884C>G)
c.1053C>G (p.Leu351=)
c.70C>G
c.1173C>G (p.Leu391=)
c.894C>G (p.Leu298=)
c.1305C>G (p.Leu435=)
c.272+308C>G (n.272+308C>G)
c.966C>G (p.Leu322=)
c.834C>G (p.Leu278=)
c.831C>G (p.Leu277=)
c.915C>G (p.Leu305=)
c.846C>G (p.Leu282=)
c.-120C>G (n.-120C>G)
12g.55698402G=CA2038044367ITGA7c.*797C= (n.*797C=)
c.37C=
n.37C=
c.699C= (p.Leu233=)
c.1185C= (p.Leu395=)
c.*884C= (n.*884C=)
c.1053C= (p.Leu351=)
c.70C=
c.1173C= (p.Leu391=)
c.894C= (p.Leu298=)
c.1305C= (p.Leu435=)
c.272+308C= (n.272+308C=)
c.966C= (p.Leu322=)
c.834C= (p.Leu278=)
c.831C= (p.Leu277=)
c.915C= (p.Leu305=)
c.846C= (p.Leu282=)
c.-120C= (n.-120C=)
12g.55698402G>TCA480149470ITGA7c.*797C>A (n.*797C>A)
c.37C>A
n.37C>A
c.699C>A (p.Leu233=)
c.1185C>A (p.Leu395=)
c.*884C>A (n.*884C>A)
c.1053C>A (p.Leu351=)
c.70C>A
c.1173C>A (p.Leu391=)
c.894C>A (p.Leu298=)
c.1305C>A (p.Leu435=)
c.272+308C>A (n.272+308C>A)
c.966C>A (p.Leu322=)
c.834C>A (p.Leu278=)
c.831C>A (p.Leu277=)
c.915C>A (p.Leu305=)
c.846C>A (p.Leu282=)
c.-120C>A (n.-120C>A)
12g.55698403A>CCA385190037ITGA7c.*796T>G (n.*796T>G)
c.36T>G
n.36T>G
c.698T>G (p.Leu233Arg)
c.1184T>G (p.Leu395Arg)
c.*883T>G (n.*883T>G)
c.1052T>G (p.Leu351Arg)
c.69T>G
c.1172T>G (p.Leu391Arg)
c.893T>G (p.Leu298Arg)
c.1304T>G (p.Leu435Arg)
c.272+307T>G (n.272+307T>G)
c.965T>G (p.Leu322Arg)
c.833T>G (p.Leu278Arg)
c.830T>G (p.Leu277Arg)
c.914T>G (p.Leu305Arg)
c.845T>G (p.Leu282Arg)
c.-121T>G (n.-121T>G)
12g.55698403A>GCA385190038ITGA7c.*796T>C (n.*796T>C)
c.36T>C
n.36T>C
c.698T>C (p.Leu233Pro)
c.1184T>C (p.Leu395Pro)
c.*883T>C (n.*883T>C)
c.1052T>C (p.Leu351Pro)
c.69T>C
c.1172T>C (p.Leu391Pro)
c.893T>C (p.Leu298Pro)
c.1304T>C (p.Leu435Pro)
c.272+307T>C (n.272+307T>C)
c.965T>C (p.Leu322Pro)
c.833T>C (p.Leu278Pro)
c.830T>C (p.Leu277Pro)
c.914T>C (p.Leu305Pro)
c.845T>C (p.Leu282Pro)
c.-121T>C (n.-121T>C)
12g.55698403A>TCA385190039ITGA7c.*796T>A (n.*796T>A)
c.36T>A
n.36T>A
c.698T>A (p.Leu233His)
c.1184T>A (p.Leu395His)
c.*883T>A (n.*883T>A)
c.1052T>A (p.Leu351His)
c.69T>A
c.1172T>A (p.Leu391His)
c.893T>A (p.Leu298His)
c.1304T>A (p.Leu435His)
c.272+307T>A (n.272+307T>A)
c.965T>A (p.Leu322His)
c.833T>A (p.Leu278His)
c.830T>A (p.Leu277His)
c.914T>A (p.Leu305His)
c.845T>A (p.Leu282His)
c.-121T>A (n.-121T>A)
12g.55698404G>ACA10642870ITGA7c.*795C>T (n.*795C>T)
c.35C>T
n.35C>T
c.697C>T (p.Leu233Phe)
c.1183C>T (p.Leu395Phe)
c.*882C>T (n.*882C>T)
c.1051C>T (p.Leu351Phe)
c.68C>T
c.1171C>T (p.Leu391Phe)
c.892C>T (p.Leu298Phe)
c.1303C>T (p.Leu435Phe)
c.272+306C>T (n.272+306C>T)
c.964C>T (p.Leu322Phe)
c.832C>T (p.Leu278Phe)
c.829C>T (p.Leu277Phe)
c.913C>T (p.Leu305Phe)
c.844C>T (p.Leu282Phe)
c.-122C>T (n.-122C>T)
 ClinVar dbSNP
12g.55698404G>CCA385190040ITGA7c.*795C>G (n.*795C>G)
c.35C>G
n.35C>G
c.697C>G (p.Leu233Val)
c.1183C>G (p.Leu395Val)
c.*882C>G (n.*882C>G)
c.1051C>G (p.Leu351Val)
c.68C>G
c.1171C>G (p.Leu391Val)
c.892C>G (p.Leu298Val)
c.1303C>G (p.Leu435Val)
c.272+306C>G (n.272+306C>G)
c.964C>G (p.Leu322Val)
c.832C>G (p.Leu278Val)
c.829C>G (p.Leu277Val)
c.913C>G (p.Leu305Val)
c.844C>G (p.Leu282Val)
c.-122C>G (n.-122C>G)
 ClinVar gnomAD v4
12g.55698404G=CA2038044369ITGA7c.*795C= (n.*795C=)
c.35C=
n.35C=
c.697C= (p.Leu233=)
c.1183C= (p.Leu395=)
c.*882C= (n.*882C=)
c.1051C= (p.Leu351=)
c.68C=
c.1171C= (p.Leu391=)
c.892C= (p.Leu298=)
c.1303C= (p.Leu435=)
c.272+306C= (n.272+306C=)
c.964C= (p.Leu322=)
c.832C= (p.Leu278=)
c.829C= (p.Leu277=)
c.913C= (p.Leu305=)
c.844C= (p.Leu282=)
c.-122C= (n.-122C=)
12g.55698404G>TCA385190041ITGA7c.*795C>A (n.*795C>A)
c.35C>A
n.35C>A
c.697C>A (p.Leu233Ile)
c.1183C>A (p.Leu395Ile)
c.*882C>A (n.*882C>A)
c.1051C>A (p.Leu351Ile)
c.68C>A
c.1171C>A (p.Leu391Ile)
c.892C>A (p.Leu298Ile)
c.1303C>A (p.Leu435Ile)
c.272+306C>A (n.272+306C>A)
c.964C>A (p.Leu322Ile)
c.832C>A (p.Leu278Ile)
c.829C>A (p.Leu277Ile)
c.913C>A (p.Leu305Ile)
c.844C>A (p.Leu282Ile)
c.-122C>A (n.-122C>A)
 gnomAD v4
12g.55698405G>ACA480149473ITGA7c.*794C>T (n.*794C>T)
c.34C>T
n.34C>T
c.696C>T (p.Asp232=)
c.1182C>T (p.Asp394=)
c.*881C>T (n.*881C>T)
c.1050C>T (p.Asp350=)
c.67C>T
c.1170C>T (p.Asp390=)
c.891C>T (p.Asp297=)
c.1302C>T (p.Asp434=)
c.272+305C>T (n.272+305C>T)
c.963C>T (p.Asp321=)
c.831C>T (p.Asp277=)
c.828C>T (p.Asp276=)
c.912C>T (p.Asp304=)
c.843C>T (p.Asp281=)
c.-123C>T (n.-123C>T)
12g.55698405G>CCA385190042ITGA7c.*794C>G (n.*794C>G)
c.34C>G
n.34C>G
c.696C>G (p.Asp232Glu)
c.1182C>G (p.Asp394Glu)
c.*881C>G (n.*881C>G)
c.1050C>G (p.Asp350Glu)
c.67C>G
c.1170C>G (p.Asp390Glu)
c.891C>G (p.Asp297Glu)
c.1302C>G (p.Asp434Glu)
c.272+305C>G (n.272+305C>G)
c.963C>G (p.Asp321Glu)
c.831C>G (p.Asp277Glu)
c.828C>G (p.Asp276Glu)
c.912C>G (p.Asp304Glu)
c.843C>G (p.Asp281Glu)
c.-123C>G (n.-123C>G)
12g.55698405G>TCA385190043ITGA7c.*794C>A (n.*794C>A)
c.34C>A
n.34C>A
c.696C>A (p.Asp232Glu)
c.1182C>A (p.Asp394Glu)
c.*881C>A (n.*881C>A)
c.1050C>A (p.Asp350Glu)
c.67C>A
c.1170C>A (p.Asp390Glu)
c.891C>A (p.Asp297Glu)
c.1302C>A (p.Asp434Glu)
c.272+305C>A (n.272+305C>A)
c.963C>A (p.Asp321Glu)
c.831C>A (p.Asp277Glu)
c.828C>A (p.Asp276Glu)
c.912C>A (p.Asp304Glu)
c.843C>A (p.Asp281Glu)
c.-123C>A (n.-123C>A)
12g.55698406T>ACA385190044ITGA7c.*793A>T (n.*793A>T)
c.33A>T
n.33A>T
c.695A>T (p.Asp232Val)
c.1181A>T (p.Asp394Val)
c.*880A>T (n.*880A>T)
c.1049A>T (p.Asp350Val)
c.66A>T
c.1169A>T (p.Asp390Val)
c.890A>T (p.Asp297Val)
c.1301A>T (p.Asp434Val)
c.272+304A>T (n.272+304A>T)
c.962A>T (p.Asp321Val)
c.830A>T (p.Asp277Val)
c.827A>T (p.Asp276Val)
c.911A>T (p.Asp304Val)
c.842A>T (p.Asp281Val)
c.-124A>T (n.-124A>T)
12g.55698406T>CCA385190045ITGA7c.*793A>G (n.*793A>G)
c.33A>G
n.33A>G
c.695A>G (p.Asp232Gly)
c.1181A>G (p.Asp394Gly)
c.*880A>G (n.*880A>G)
c.1049A>G (p.Asp350Gly)
c.66A>G
c.1169A>G (p.Asp390Gly)
c.890A>G (p.Asp297Gly)
c.1301A>G (p.Asp434Gly)
c.272+304A>G (n.272+304A>G)
c.962A>G (p.Asp321Gly)
c.830A>G (p.Asp277Gly)
c.827A>G (p.Asp276Gly)
c.911A>G (p.Asp304Gly)
c.842A>G (p.Asp281Gly)
c.-124A>G (n.-124A>G)
 gnomAD v4
12g.55698406T>GCA385190046ITGA7c.*793A>C (n.*793A>C)
c.33A>C
n.33A>C
c.695A>C (p.Asp232Ala)
c.1181A>C (p.Asp394Ala)
c.*880A>C (n.*880A>C)
c.1049A>C (p.Asp350Ala)
c.66A>C
c.1169A>C (p.Asp390Ala)
c.890A>C (p.Asp297Ala)
c.1301A>C (p.Asp434Ala)
c.272+304A>C (n.272+304A>C)
c.962A>C (p.Asp321Ala)
c.830A>C (p.Asp277Ala)
c.827A>C (p.Asp276Ala)
c.911A>C (p.Asp304Ala)
c.842A>C (p.Asp281Ala)
c.-124A>C (n.-124A>C)
12g.55698407C>ACA385190047ITGA7c.*792G>T (n.*792G>T)
c.32G>T
n.32G>T
c.694G>T (p.Asp232Tyr)
c.1180G>T (p.Asp394Tyr)
c.*879G>T (n.*879G>T)
c.1048G>T (p.Asp350Tyr)
c.65G>T
c.1168G>T (p.Asp390Tyr)
c.889G>T (p.Asp297Tyr)
c.1300G>T (p.Asp434Tyr)
c.272+303G>T (n.272+303G>T)
c.961G>T (p.Asp321Tyr)
c.829G>T (p.Asp277Tyr)
c.826G>T (p.Asp276Tyr)
c.910G>T (p.Asp304Tyr)
c.841G>T (p.Asp281Tyr)
c.-125G>T (n.-125G>T)
 gnomAD v4
12g.55698407C>GCA385190048ITGA7c.*792G>C (n.*792G>C)
c.32G>C
n.32G>C
c.694G>C (p.Asp232His)
c.1180G>C (p.Asp394His)
c.*879G>C (n.*879G>C)
c.1048G>C (p.Asp350His)
c.65G>C
c.1168G>C (p.Asp390His)
c.889G>C (p.Asp297His)
c.1300G>C (p.Asp434His)
c.272+303G>C (n.272+303G>C)
c.961G>C (p.Asp321His)
c.829G>C (p.Asp277His)
c.826G>C (p.Asp276His)
c.910G>C (p.Asp304His)
c.841G>C (p.Asp281His)
c.-125G>C (n.-125G>C)
12g.55698407C>TCA385190049ITGA7c.*792G>A (n.*792G>A)
c.32G>A
n.32G>A
c.694G>A (p.Asp232Asn)
c.1180G>A (p.Asp394Asn)
c.*879G>A (n.*879G>A)
c.1048G>A (p.Asp350Asn)
c.65G>A
c.1168G>A (p.Asp390Asn)
c.889G>A (p.Asp297Asn)
c.1300G>A (p.Asp434Asn)
c.272+303G>A (n.272+303G>A)
c.961G>A (p.Asp321Asn)
c.829G>A (p.Asp277Asn)
c.826G>A (p.Asp276Asn)
c.910G>A (p.Asp304Asn)
c.841G>A (p.Asp281Asn)
c.-125G>A (n.-125G>A)
 gnomAD v4
12g.55698411delCA2619202414ITGA7c.*792del (n.*792del)
c.32del
n.32del
c.694del (p.Asp232ThrfsTer?)
c.1180del (p.Asp394ThrfsTer?)
c.*879del (n.*879del)
c.1048del (p.Asp350ThrfsTer?)
c.65del
c.1168del (p.Asp390ThrfsTer?)
c.889del (p.Asp297ThrfsTer?)
c.1300del (p.Asp434ThrfsTer?)
c.272+303del (n.272+303del)
c.961del (p.Asp321ThrfsTer?)
c.829del (p.Asp277ThrfsTer?)
c.826del (p.Asp276ThrfsTer?)
c.910del (p.Asp304ThrfsTer?)
c.841del (p.Asp281ThrfsTer?)
c.-125del (n.-125del)
 gnomAD v4
12g.55698408C>ACA480149474ITGA7c.*791G>T (n.*791G>T)
c.31G>T
n.31G>T
c.693G>T (p.Gly231=)
c.1179G>T (p.Gly393=)
c.*878G>T (n.*878G>T)
c.1047G>T (p.Gly349=)
c.64G>T
c.1167G>T (p.Gly389=)
c.888G>T (p.Gly296=)
c.1299G>T (p.Gly433=)
c.272+302G>T (n.272+302G>T)
c.960G>T (p.Gly320=)
c.828G>T (p.Gly276=)
c.825G>T (p.Gly275=)
c.909G>T (p.Gly303=)
c.840G>T (p.Gly280=)
c.-126G>T (n.-126G>T)
12g.55698408C=CA2038044373ITGA7c.*791G= (n.*791G=)
c.31G=
n.31G=
c.693G= (p.Gly231=)
c.1179G= (p.Gly393=)
c.*878G= (n.*878G=)
c.1047G= (p.Gly349=)
c.64G=
c.1167G= (p.Gly389=)
c.888G= (p.Gly296=)
c.1299G= (p.Gly433=)
c.272+302G= (n.272+302G=)
c.960G= (p.Gly320=)
c.828G= (p.Gly276=)
c.825G= (p.Gly275=)
c.909G= (p.Gly303=)
c.840G= (p.Gly280=)
c.-126G= (n.-126G=)
12g.55698408C>GCA480149475ITGA7c.*791G>C (n.*791G>C)
c.31G>C
n.31G>C
c.693G>C (p.Gly231=)
c.1179G>C (p.Gly393=)
c.*878G>C (n.*878G>C)
c.1047G>C (p.Gly349=)
c.64G>C
c.1167G>C (p.Gly389=)
c.888G>C (p.Gly296=)
c.1299G>C (p.Gly433=)
c.272+302G>C (n.272+302G>C)
c.960G>C (p.Gly320=)
c.828G>C (p.Gly276=)
c.825G>C (p.Gly275=)
c.909G>C (p.Gly303=)
c.840G>C (p.Gly280=)
c.-126G>C (n.-126G>C)
 gnomAD v4
12g.55698408C>TCA480149476ITGA7c.*791G>A (n.*791G>A)
c.31G>A
n.31G>A
c.693G>A (p.Gly231=)
c.1179G>A (p.Gly393=)
c.*878G>A (n.*878G>A)
c.1047G>A (p.Gly349=)
c.64G>A
c.1167G>A (p.Gly389=)
c.888G>A (p.Gly296=)
c.1299G>A (p.Gly433=)
c.272+302G>A (n.272+302G>A)
c.960G>A (p.Gly320=)
c.828G>A (p.Gly276=)
c.825G>A (p.Gly275=)
c.909G>A (p.Gly303=)
c.840G>A (p.Gly280=)
c.-126G>A (n.-126G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55698409C>ACA385190050ITGA7c.*790G>T (n.*790G>T)
c.30G>T
n.30G>T
c.692G>T (p.Gly231Val)
c.1178G>T (p.Gly393Val)
c.*877G>T (n.*877G>T)
c.1046G>T (p.Gly349Val)
c.63G>T
c.1166G>T (p.Gly389Val)
c.887G>T (p.Gly296Val)
c.1298G>T (p.Gly433Val)
c.272+301G>T (n.272+301G>T)
c.959G>T (p.Gly320Val)
c.827G>T (p.Gly276Val)
c.824G>T (p.Gly275Val)
c.908G>T (p.Gly303Val)
c.839G>T (p.Gly280Val)
c.-127G>T (n.-127G>T)
12g.55698409C>GCA385190051ITGA7c.*790G>C (n.*790G>C)
c.30G>C
n.30G>C
c.692G>C (p.Gly231Ala)
c.1178G>C (p.Gly393Ala)
c.*877G>C (n.*877G>C)
c.1046G>C (p.Gly349Ala)
c.63G>C
c.1166G>C (p.Gly389Ala)
c.887G>C (p.Gly296Ala)
c.1298G>C (p.Gly433Ala)
c.272+301G>C (n.272+301G>C)
c.959G>C (p.Gly320Ala)
c.827G>C (p.Gly276Ala)
c.824G>C (p.Gly275Ala)
c.908G>C (p.Gly303Ala)
c.839G>C (p.Gly280Ala)
c.-127G>C (n.-127G>C)
12g.55698409C>TCA385190052ITGA7c.*790G>A (n.*790G>A)
c.30G>A
n.30G>A
c.692G>A (p.Gly231Glu)
c.1178G>A (p.Gly393Glu)
c.*877G>A (n.*877G>A)
c.1046G>A (p.Gly349Glu)
c.63G>A
c.1166G>A (p.Gly389Glu)
c.887G>A (p.Gly296Glu)
c.1298G>A (p.Gly433Glu)
c.272+301G>A (n.272+301G>A)
c.959G>A (p.Gly320Glu)
c.827G>A (p.Gly276Glu)
c.824G>A (p.Gly275Glu)
c.908G>A (p.Gly303Glu)
c.839G>A (p.Gly280Glu)
c.-127G>A (n.-127G>A)
 gnomAD v4
12g.55698410C>ACA385190053ITGA7c.*789G>T (n.*789G>T)
c.29G>T
n.29G>T
c.691G>T (p.Gly231Trp)
c.1177G>T (p.Gly393Trp)
c.*876G>T (n.*876G>T)
c.1045G>T (p.Gly349Trp)
c.62G>T
c.1165G>T (p.Gly389Trp)
c.886G>T (p.Gly296Trp)
c.1297G>T (p.Gly433Trp)
c.272+300G>T (n.272+300G>T)
c.958G>T (p.Gly320Trp)
c.826G>T (p.Gly276Trp)
c.823G>T (p.Gly275Trp)
c.907G>T (p.Gly303Trp)
c.838G>T (p.Gly280Trp)
c.-128G>T (n.-128G>T)
12g.55698410C>GCA385190054ITGA7c.*789G>C (n.*789G>C)
c.29G>C
n.29G>C
c.691G>C (p.Gly231Arg)
c.1177G>C (p.Gly393Arg)
c.*876G>C (n.*876G>C)
c.1045G>C (p.Gly349Arg)
c.62G>C
c.1165G>C (p.Gly389Arg)
c.886G>C (p.Gly296Arg)
c.1297G>C (p.Gly433Arg)
c.272+300G>C (n.272+300G>C)
c.958G>C (p.Gly320Arg)
c.826G>C (p.Gly276Arg)
c.823G>C (p.Gly275Arg)
c.907G>C (p.Gly303Arg)
c.838G>C (p.Gly280Arg)
c.-128G>C (n.-128G>C)
12g.55698410C>TCA385190055ITGA7c.*789G>A (n.*789G>A)
c.29G>A
n.29G>A
c.691G>A (p.Gly231Arg)
c.1177G>A (p.Gly393Arg)
c.*876G>A (n.*876G>A)
c.1045G>A (p.Gly349Arg)
c.62G>A
c.1165G>A (p.Gly389Arg)
c.886G>A (p.Gly296Arg)
c.1297G>A (p.Gly433Arg)
c.272+300G>A (n.272+300G>A)
c.958G>A (p.Gly320Arg)
c.826G>A (p.Gly276Arg)
c.823G>A (p.Gly275Arg)
c.907G>A (p.Gly303Arg)
c.838G>A (p.Gly280Arg)
c.-128G>A (n.-128G>A)
12g.55698411C>ACA480149477ITGA7c.*788G>T (n.*788G>T)
c.28G>T
n.28G>T
c.690G>T (p.Leu230=)
c.1176G>T (p.Leu392=)
c.*875G>T (n.*875G>T)
c.1044G>T (p.Leu348=)
c.61G>T
c.1164G>T (p.Leu388=)
c.885G>T (p.Leu295=)
c.1296G>T (p.Leu432=)
c.272+299G>T (n.272+299G>T)
c.957G>T (p.Leu319=)
c.825G>T (p.Leu275=)
c.822G>T (p.Leu274=)
c.906G>T (p.Leu302=)
c.837G>T (p.Leu279=)
c.-129G>T (n.-129G>T)
12g.55698411C>GCA480149478ITGA7c.*788G>C (n.*788G>C)
c.28G>C
n.28G>C
c.690G>C (p.Leu230=)
c.1176G>C (p.Leu392=)
c.*875G>C (n.*875G>C)
c.1044G>C (p.Leu348=)
c.61G>C
c.1164G>C (p.Leu388=)
c.885G>C (p.Leu295=)
c.1296G>C (p.Leu432=)
c.272+299G>C (n.272+299G>C)
c.957G>C (p.Leu319=)
c.825G>C (p.Leu275=)
c.822G>C (p.Leu274=)
c.906G>C (p.Leu302=)
c.837G>C (p.Leu279=)
c.-129G>C (n.-129G>C)
12g.55698411C>TCA480149479ITGA7c.*788G>A (n.*788G>A)
c.28G>A
n.28G>A
c.690G>A (p.Leu230=)
c.1176G>A (p.Leu392=)
c.*875G>A (n.*875G>A)
c.1044G>A (p.Leu348=)
c.61G>A
c.1164G>A (p.Leu388=)
c.885G>A (p.Leu295=)
c.1296G>A (p.Leu432=)
c.272+299G>A (n.272+299G>A)
c.957G>A (p.Leu319=)
c.825G>A (p.Leu275=)
c.822G>A (p.Leu274=)
c.906G>A (p.Leu302=)
c.837G>A (p.Leu279=)
c.-129G>A (n.-129G>A)
12g.55698412A>CCA385190056ITGA7c.*787T>G (n.*787T>G)
c.27T>G
n.27T>G
c.689T>G (p.Leu230Arg)
c.1175T>G (p.Leu392Arg)
c.*874T>G (n.*874T>G)
c.1043T>G (p.Leu348Arg)
c.60T>G
c.1163T>G (p.Leu388Arg)
c.884T>G (p.Leu295Arg)
c.1295T>G (p.Leu432Arg)
c.272+298T>G (n.272+298T>G)
c.956T>G (p.Leu319Arg)
c.824T>G (p.Leu275Arg)
c.821T>G (p.Leu274Arg)
c.905T>G (p.Leu302Arg)
c.836T>G (p.Leu279Arg)
c.-130T>G (n.-130T>G)
12g.55698412A>GCA385190058ITGA7c.*787T>C (n.*787T>C)
c.27T>C
n.27T>C
c.689T>C (p.Leu230Pro)
c.1175T>C (p.Leu392Pro)
c.*874T>C (n.*874T>C)
c.1043T>C (p.Leu348Pro)
c.60T>C
c.1163T>C (p.Leu388Pro)
c.884T>C (p.Leu295Pro)
c.1295T>C (p.Leu432Pro)
c.272+298T>C (n.272+298T>C)
c.956T>C (p.Leu319Pro)
c.824T>C (p.Leu275Pro)
c.821T>C (p.Leu274Pro)
c.905T>C (p.Leu302Pro)
c.836T>C (p.Leu279Pro)
c.-130T>C (n.-130T>C)
 gnomAD v4
12g.55698412A>TCA385190057ITGA7c.*787T>A (n.*787T>A)
c.27T>A
n.27T>A
c.689T>A (p.Leu230Gln)
c.1175T>A (p.Leu392Gln)
c.*874T>A (n.*874T>A)
c.1043T>A (p.Leu348Gln)
c.60T>A
c.1163T>A (p.Leu388Gln)
c.884T>A (p.Leu295Gln)
c.1295T>A (p.Leu432Gln)
c.272+298T>A (n.272+298T>A)
c.956T>A (p.Leu319Gln)
c.824T>A (p.Leu275Gln)
c.821T>A (p.Leu274Gln)
c.905T>A (p.Leu302Gln)
c.836T>A (p.Leu279Gln)
c.-130T>A (n.-130T>A)
 gnomAD v4
12g.55698413G>ACA237574757ITGA7c.*786C>T (n.*786C>T)
c.26C>T
n.26C>T
c.688C>T (p.Leu230=)
c.1174C>T (p.Leu392=)
c.*873C>T (n.*873C>T)
c.1042C>T (p.Leu348=)
c.59C>T
c.1162C>T (p.Leu388=)
c.883C>T (p.Leu295=)
c.1294C>T (p.Leu432=)
c.272+297C>T (n.272+297C>T)
c.955C>T (p.Leu319=)
c.823C>T (p.Leu275=)
c.820C>T (p.Leu274=)
c.904C>T (p.Leu302=)
c.835C>T (p.Leu279=)
c.-131C>T (n.-131C>T)
 dbSNP gnomAD v4
12g.55698413G>CCA6616042ITGA7c.*786C>G (n.*786C>G)
c.26C>G
n.26C>G
c.688C>G (p.Leu230Val)
c.1174C>G (p.Leu392Val)
c.*873C>G (n.*873C>G)
c.1042C>G (p.Leu348Val)
c.59C>G
c.1162C>G (p.Leu388Val)
c.883C>G (p.Leu295Val)
c.1294C>G (p.Leu432Val)
c.272+297C>G (n.272+297C>G)
c.955C>G (p.Leu319Val)
c.823C>G (p.Leu275Val)
c.820C>G (p.Leu274Val)
c.904C>G (p.Leu302Val)
c.835C>G (p.Leu279Val)
c.-131C>G (n.-131C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698413G=CA2038044382ITGA7c.*786C= (n.*786C=)
c.26C=
n.26C=
c.688C= (p.Leu230=)
c.1174C= (p.Leu392=)
c.*873C= (n.*873C=)
c.1042C= (p.Leu348=)
c.59C=
c.1162C= (p.Leu388=)
c.883C= (p.Leu295=)
c.1294C= (p.Leu432=)
c.272+297C= (n.272+297C=)
c.955C= (p.Leu319=)
c.823C= (p.Leu275=)
c.820C= (p.Leu274=)
c.904C= (p.Leu302=)
c.835C= (p.Leu279=)
c.-131C= (n.-131C=)
12g.55698413G>TCA385190059ITGA7c.*786C>A (n.*786C>A)
c.26C>A
n.26C>A
c.688C>A (p.Leu230Met)
c.1174C>A (p.Leu392Met)
c.*873C>A (n.*873C>A)
c.1042C>A (p.Leu348Met)
c.59C>A
c.1162C>A (p.Leu388Met)
c.883C>A (p.Leu295Met)
c.1294C>A (p.Leu432Met)
c.272+297C>A (n.272+297C>A)
c.955C>A (p.Leu319Met)
c.823C>A (p.Leu275Met)
c.820C>A (p.Leu274Met)
c.904C>A (p.Leu302Met)
c.835C>A (p.Leu279Met)
c.-131C>A (n.-131C>A)
12g.55698414G>ACA480149480ITGA7c.*785C>T (n.*785C>T)
c.25C>T
n.25C>T
c.687C>T (p.Val229=)
c.1173C>T (p.Val391=)
c.*872C>T (n.*872C>T)
c.1041C>T (p.Val347=)
c.58C>T
c.1161C>T (p.Val387=)
c.882C>T (p.Val294=)
c.1293C>T (p.Val431=)
c.272+296C>T (n.272+296C>T)
c.954C>T (p.Val318=)
c.822C>T (p.Val274=)
c.819C>T (p.Val273=)
c.903C>T (p.Val301=)
c.834C>T (p.Val278=)
c.-132C>T (n.-132C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.55698414G>CCA480149481ITGA7c.*785C>G (n.*785C>G)
c.25C>G
n.25C>G
c.687C>G (p.Val229=)
c.1173C>G (p.Val391=)
c.*872C>G (n.*872C>G)
c.1041C>G (p.Val347=)
c.58C>G
c.1161C>G (p.Val387=)
c.882C>G (p.Val294=)
c.1293C>G (p.Val431=)
c.272+296C>G (n.272+296C>G)
c.954C>G (p.Val318=)
c.822C>G (p.Val274=)
c.819C>G (p.Val273=)
c.903C>G (p.Val301=)
c.834C>G (p.Val278=)
c.-132C>G (n.-132C>G)
12g.55698414G=CA2038044388ITGA7c.*785C= (n.*785C=)
c.25C=
n.25C=
c.687C= (p.Val229=)
c.1173C= (p.Val391=)
c.*872C= (n.*872C=)
c.1041C= (p.Val347=)
c.58C=
c.1161C= (p.Val387=)
c.882C= (p.Val294=)
c.1293C= (p.Val431=)
c.272+296C= (n.272+296C=)
c.954C= (p.Val318=)
c.822C= (p.Val274=)
c.819C= (p.Val273=)
c.903C= (p.Val301=)
c.834C= (p.Val278=)
c.-132C= (n.-132C=)
12g.55698414G>TCA480149482ITGA7c.*785C>A (n.*785C>A)
c.25C>A
n.25C>A
c.687C>A (p.Val229=)
c.1173C>A (p.Val391=)
c.*872C>A (n.*872C>A)
c.1041C>A (p.Val347=)
c.58C>A
c.1161C>A (p.Val387=)
c.882C>A (p.Val294=)
c.1293C>A (p.Val431=)
c.272+296C>A (n.272+296C>A)
c.954C>A (p.Val318=)
c.822C>A (p.Val274=)
c.819C>A (p.Val273=)
c.903C>A (p.Val301=)
c.834C>A (p.Val278=)
c.-132C>A (n.-132C>A)
12g.55698415A>CCA385190060ITGA7c.*784T>G (n.*784T>G)
c.24T>G
n.24T>G
c.686T>G (p.Val229Gly)
c.1172T>G (p.Val391Gly)
c.*871T>G (n.*871T>G)
c.1040T>G (p.Val347Gly)
c.57T>G
c.1160T>G (p.Val387Gly)
c.881T>G (p.Val294Gly)
c.1292T>G (p.Val431Gly)
c.272+295T>G (n.272+295T>G)
c.953T>G (p.Val318Gly)
c.821T>G (p.Val274Gly)
c.818T>G (p.Val273Gly)
c.902T>G (p.Val301Gly)
c.833T>G (p.Val278Gly)
c.-133T>G (n.-133T>G)
12g.55698415A>GCA385190061ITGA7c.*784T>C (n.*784T>C)
c.24T>C
n.24T>C
c.686T>C (p.Val229Ala)
c.1172T>C (p.Val391Ala)
c.*871T>C (n.*871T>C)
c.1040T>C (p.Val347Ala)
c.57T>C
c.1160T>C (p.Val387Ala)
c.881T>C (p.Val294Ala)
c.1292T>C (p.Val431Ala)
c.272+295T>C (n.272+295T>C)
c.953T>C (p.Val318Ala)
c.821T>C (p.Val274Ala)
c.818T>C (p.Val273Ala)
c.902T>C (p.Val301Ala)
c.833T>C (p.Val278Ala)
c.-133T>C (n.-133T>C)
12g.55698415A>TCA385190062ITGA7c.*784T>A (n.*784T>A)
c.24T>A
n.24T>A
c.686T>A (p.Val229Asp)
c.1172T>A (p.Val391Asp)
c.*871T>A (n.*871T>A)
c.1040T>A (p.Val347Asp)
c.57T>A
c.1160T>A (p.Val387Asp)
c.881T>A (p.Val294Asp)
c.1292T>A (p.Val431Asp)
c.272+295T>A (n.272+295T>A)
c.953T>A (p.Val318Asp)
c.821T>A (p.Val274Asp)
c.818T>A (p.Val273Asp)
c.902T>A (p.Val301Asp)
c.833T>A (p.Val278Asp)
c.-133T>A (n.-133T>A)
12g.55698416C>ACA385190063ITGA7c.*783G>T (n.*783G>T)
c.23G>T
n.23G>T
c.685G>T (p.Val229Phe)
c.1171G>T (p.Val391Phe)
c.*870G>T (n.*870G>T)
c.1039G>T (p.Val347Phe)
c.56G>T
c.1159G>T (p.Val387Phe)
c.880G>T (p.Val294Phe)
c.1291G>T (p.Val431Phe)
c.272+294G>T (n.272+294G>T)
c.952G>T (p.Val318Phe)
c.820G>T (p.Val274Phe)
c.817G>T (p.Val273Phe)
c.901G>T (p.Val301Phe)
c.832G>T (p.Val278Phe)
c.-134G>T (n.-134G>T)
12g.55698416C>GCA385190064ITGA7c.*783G>C (n.*783G>C)
c.23G>C
n.23G>C
c.685G>C (p.Val229Leu)
c.1171G>C (p.Val391Leu)
c.*870G>C (n.*870G>C)
c.1039G>C (p.Val347Leu)
c.56G>C
c.1159G>C (p.Val387Leu)
c.880G>C (p.Val294Leu)
c.1291G>C (p.Val431Leu)
c.272+294G>C (n.272+294G>C)
c.952G>C (p.Val318Leu)
c.820G>C (p.Val274Leu)
c.817G>C (p.Val273Leu)
c.901G>C (p.Val301Leu)
c.832G>C (p.Val278Leu)
c.-134G>C (n.-134G>C)
12g.55698416C>TCA385190065ITGA7c.*783G>A (n.*783G>A)
c.23G>A
n.23G>A
c.685G>A (p.Val229Ile)
c.1171G>A (p.Val391Ile)
c.*870G>A (n.*870G>A)
c.1039G>A (p.Val347Ile)
c.56G>A
c.1159G>A (p.Val387Ile)
c.880G>A (p.Val294Ile)
c.1291G>A (p.Val431Ile)
c.272+294G>A (n.272+294G>A)
c.952G>A (p.Val318Ile)
c.820G>A (p.Val274Ile)
c.817G>A (p.Val273Ile)
c.901G>A (p.Val301Ile)
c.832G>A (p.Val278Ile)
c.-134G>A (n.-134G>A)
12g.55698417A>CCA480149483ITGA7c.*782T>G (n.*782T>G)
c.22T>G
n.22T>G
c.684T>G (p.Ala228=)
c.1170T>G (p.Ala390=)
c.*869T>G (n.*869T>G)
c.1038T>G (p.Ala346=)
c.55T>G
c.1158T>G (p.Ala386=)
c.879T>G (p.Ala293=)
c.1290T>G (p.Ala430=)
c.272+293T>G (n.272+293T>G)
c.951T>G (p.Ala317=)
c.819T>G (p.Ala273=)
c.816T>G (p.Ala272=)
c.900T>G (p.Ala300=)
c.831T>G (p.Ala277=)
c.-135T>G (n.-135T>G)
12g.55698417A>GCA480149484ITGA7c.*782T>C (n.*782T>C)
c.22T>C
n.22T>C
c.684T>C (p.Ala228=)
c.1170T>C (p.Ala390=)
c.*869T>C (n.*869T>C)
c.1038T>C (p.Ala346=)
c.55T>C
c.1158T>C (p.Ala386=)
c.879T>C (p.Ala293=)
c.1290T>C (p.Ala430=)
c.272+293T>C (n.272+293T>C)
c.951T>C (p.Ala317=)
c.819T>C (p.Ala273=)
c.816T>C (p.Ala272=)
c.900T>C (p.Ala300=)
c.831T>C (p.Ala277=)
c.-135T>C (n.-135T>C)
12g.55698417A>TCA480149485ITGA7c.*782T>A (n.*782T>A)
c.22T>A
n.22T>A
c.684T>A (p.Ala228=)
c.1170T>A (p.Ala390=)
c.*869T>A (n.*869T>A)
c.1038T>A (p.Ala346=)
c.55T>A
c.1158T>A (p.Ala386=)
c.879T>A (p.Ala293=)
c.1290T>A (p.Ala430=)
c.272+293T>A (n.272+293T>A)
c.951T>A (p.Ala317=)
c.819T>A (p.Ala273=)
c.816T>A (p.Ala272=)
c.900T>A (p.Ala300=)
c.831T>A (p.Ala277=)
c.-135T>A (n.-135T>A)
12g.55698418G>ACA385190066ITGA7c.*781C>T (n.*781C>T)
c.21C>T
n.21C>T
c.683C>T (p.Ala228Val)
c.1169C>T (p.Ala390Val)
c.*868C>T (n.*868C>T)
c.1037C>T (p.Ala346Val)
c.54C>T
c.1157C>T (p.Ala386Val)
c.878C>T (p.Ala293Val)
c.1289C>T (p.Ala430Val)
c.272+292C>T (n.272+292C>T)
c.950C>T (p.Ala317Val)
c.818C>T (p.Ala273Val)
c.815C>T (p.Ala272Val)
c.899C>T (p.Ala300Val)
c.830C>T (p.Ala277Val)
c.-136C>T (n.-136C>T)
12g.55698418G>CCA385190067ITGA7c.*781C>G (n.*781C>G)
c.21C>G
n.21C>G
c.683C>G (p.Ala228Gly)
c.1169C>G (p.Ala390Gly)
c.*868C>G (n.*868C>G)
c.1037C>G (p.Ala346Gly)
c.54C>G
c.1157C>G (p.Ala386Gly)
c.878C>G (p.Ala293Gly)
c.1289C>G (p.Ala430Gly)
c.272+292C>G (n.272+292C>G)
c.950C>G (p.Ala317Gly)
c.818C>G (p.Ala273Gly)
c.815C>G (p.Ala272Gly)
c.899C>G (p.Ala300Gly)
c.830C>G (p.Ala277Gly)
c.-136C>G (n.-136C>G)
12g.55698418G>TCA385190068ITGA7c.*781C>A (n.*781C>A)
c.21C>A
n.21C>A
c.683C>A (p.Ala228Asp)
c.1169C>A (p.Ala390Asp)
c.*868C>A (n.*868C>A)
c.1037C>A (p.Ala346Asp)
c.54C>A
c.1157C>A (p.Ala386Asp)
c.878C>A (p.Ala293Asp)
c.1289C>A (p.Ala430Asp)
c.272+292C>A (n.272+292C>A)
c.950C>A (p.Ala317Asp)
c.818C>A (p.Ala273Asp)
c.815C>A (p.Ala272Asp)
c.899C>A (p.Ala300Asp)
c.830C>A (p.Ala277Asp)
c.-136C>A (n.-136C>A)
12g.55698419C>ACA385190070ITGA7c.*780G>T (n.*780G>T)
c.20G>T
n.20G>T
c.682G>T (p.Ala228Ser)
c.1168G>T (p.Ala390Ser)
c.*867G>T (n.*867G>T)
c.1036G>T (p.Ala346Ser)
c.53G>T
c.1156G>T (p.Ala386Ser)
c.877G>T (p.Ala293Ser)
c.1288G>T (p.Ala430Ser)
c.272+291G>T (n.272+291G>T)
c.949G>T (p.Ala317Ser)
c.817G>T (p.Ala273Ser)
c.814G>T (p.Ala272Ser)
c.898G>T (p.Ala300Ser)
c.829G>T (p.Ala277Ser)
c.-137G>T (n.-137G>T)
12g.55698419C=CA2038044392ITGA7c.*780G= (n.*780G=)
c.20G=
n.20G=
c.682G= (p.Ala228=)
c.1168G= (p.Ala390=)
c.*867G= (n.*867G=)
c.1036G= (p.Ala346=)
c.53G=
c.1156G= (p.Ala386=)
c.877G= (p.Ala293=)
c.1288G= (p.Ala430=)
c.272+291G= (n.272+291G=)
c.949G= (p.Ala317=)
c.817G= (p.Ala273=)
c.814G= (p.Ala272=)
c.898G= (p.Ala300=)
c.829G= (p.Ala277=)
c.-137G= (n.-137G=)
12g.55698419C>GCA385190069ITGA7c.*780G>C (n.*780G>C)
c.20G>C
n.20G>C
c.682G>C (p.Ala228Pro)
c.1168G>C (p.Ala390Pro)
c.*867G>C (n.*867G>C)
c.1036G>C (p.Ala346Pro)
c.53G>C
c.1156G>C (p.Ala386Pro)
c.877G>C (p.Ala293Pro)
c.1288G>C (p.Ala430Pro)
c.272+291G>C (n.272+291G>C)
c.949G>C (p.Ala317Pro)
c.817G>C (p.Ala273Pro)
c.814G>C (p.Ala272Pro)
c.898G>C (p.Ala300Pro)
c.829G>C (p.Ala277Pro)
c.-137G>C (n.-137G>C)
12g.55698419C>TCA6616043ITGA7c.*780G>A (n.*780G>A)
c.20G>A
n.20G>A
c.682G>A (p.Ala228Thr)
c.1168G>A (p.Ala390Thr)
c.*867G>A (n.*867G>A)
c.1036G>A (p.Ala346Thr)
c.53G>A
c.1156G>A (p.Ala386Thr)
c.877G>A (p.Ala293Thr)
c.1288G>A (p.Ala430Thr)
c.272+291G>A (n.272+291G>A)
c.949G>A (p.Ala317Thr)
c.817G>A (p.Ala273Thr)
c.814G>A (p.Ala272Thr)
c.898G>A (p.Ala300Thr)
c.829G>A (p.Ala277Thr)
c.-137G>A (n.-137G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55698420C>ACA480149486ITGA7c.*779G>T (n.*779G>T)
c.19G>T
n.19G>T
c.681G>T (p.Leu227=)
c.1167G>T (p.Leu389=)
c.*866G>T (n.*866G>T)
c.1035G>T (p.Leu345=)
c.52G>T
c.1155G>T (p.Leu385=)
c.876G>T (p.Leu292=)
c.1287G>T (p.Leu429=)
c.272+290G>T (n.272+290G>T)
c.948G>T (p.Leu316=)
c.816G>T (p.Leu272=)
c.813G>T (p.Leu271=)
c.897G>T (p.Leu299=)
c.828G>T (p.Leu276=)
c.-138G>T (n.-138G>T)
12g.55698420C>GCA480149487ITGA7c.*779G>C (n.*779G>C)
c.19G>C
n.19G>C
c.681G>C (p.Leu227=)
c.1167G>C (p.Leu389=)
c.*866G>C (n.*866G>C)
c.1035G>C (p.Leu345=)
c.52G>C
c.1155G>C (p.Leu385=)
c.876G>C (p.Leu292=)
c.1287G>C (p.Leu429=)
c.272+290G>C (n.272+290G>C)
c.948G>C (p.Leu316=)
c.816G>C (p.Leu272=)
c.813G>C (p.Leu271=)
c.897G>C (p.Leu299=)
c.828G>C (p.Leu276=)
c.-138G>C (n.-138G>C)
12g.55698420C>TCA480149488ITGA7c.*779G>A (n.*779G>A)
c.19G>A
n.19G>A
c.681G>A (p.Leu227=)
c.1167G>A (p.Leu389=)
c.*866G>A (n.*866G>A)
c.1035G>A (p.Leu345=)
c.52G>A
c.1155G>A (p.Leu385=)
c.876G>A (p.Leu292=)
c.1287G>A (p.Leu429=)
c.272+290G>A (n.272+290G>A)
c.948G>A (p.Leu316=)
c.816G>A (p.Leu272=)
c.813G>A (p.Leu271=)
c.897G>A (p.Leu299=)
c.828G>A (p.Leu276=)
c.-138G>A (n.-138G>A)
12g.55698421A=CA2038044403ITGA7c.*778T= (n.*778T=)
c.18T=
n.18T=
c.680T= (p.Leu227=)
c.1166T= (p.Leu389=)
c.*865T= (n.*865T=)
c.1034T= (p.Leu345=)
c.51T=
c.1154T= (p.Leu385=)
c.875T= (p.Leu292=)
c.1286T= (p.Leu429=)
c.272+289T= (n.272+289T=)
c.947T= (p.Leu316=)
c.815T= (p.Leu272=)
c.812T= (p.Leu271=)
c.896T= (p.Leu299=)
c.827T= (p.Leu276=)
c.-139T= (n.-139T=)
12g.55698421A>CCA385190071ITGA7c.*778T>G (n.*778T>G)
c.18T>G
n.18T>G
c.680T>G (p.Leu227Arg)
c.1166T>G (p.Leu389Arg)
c.*865T>G (n.*865T>G)
c.1034T>G (p.Leu345Arg)
c.51T>G
c.1154T>G (p.Leu385Arg)
c.875T>G (p.Leu292Arg)
c.1286T>G (p.Leu429Arg)
c.272+289T>G (n.272+289T>G)
c.947T>G (p.Leu316Arg)
c.815T>G (p.Leu272Arg)
c.812T>G (p.Leu271Arg)
c.896T>G (p.Leu299Arg)
c.827T>G (p.Leu276Arg)
c.-139T>G (n.-139T>G)
12g.55698421A>GCA385190072ITGA7c.*778T>C (n.*778T>C)
c.18T>C
n.18T>C
c.680T>C (p.Leu227Pro)
c.1166T>C (p.Leu389Pro)
c.*865T>C (n.*865T>C)
c.1034T>C (p.Leu345Pro)
c.51T>C
c.1154T>C (p.Leu385Pro)
c.875T>C (p.Leu292Pro)
c.1286T>C (p.Leu429Pro)
c.272+289T>C (n.272+289T>C)
c.947T>C (p.Leu316Pro)
c.815T>C (p.Leu272Pro)
c.812T>C (p.Leu271Pro)
c.896T>C (p.Leu299Pro)
c.827T>C (p.Leu276Pro)
c.-139T>C (n.-139T>C)
 dbSNP
12g.55698421A>TCA385190073ITGA7c.*778T>A (n.*778T>A)
c.18T>A
n.18T>A
c.680T>A (p.Leu227Gln)
c.1166T>A (p.Leu389Gln)
c.*865T>A (n.*865T>A)
c.1034T>A (p.Leu345Gln)
c.51T>A
c.1154T>A (p.Leu385Gln)
c.875T>A (p.Leu292Gln)
c.1286T>A (p.Leu429Gln)
c.272+289T>A (n.272+289T>A)
c.947T>A (p.Leu316Gln)
c.815T>A (p.Leu272Gln)
c.812T>A (p.Leu271Gln)
c.896T>A (p.Leu299Gln)
c.827T>A (p.Leu276Gln)
c.-139T>A (n.-139T>A)
12g.55698421_55698431delinsAGGCTGATCCCCA2038044398ITGA7c.*776-8_*778delinsGGGATCAGCCT
c.8_18delinsGGGATCAGCCT
n.8_18delinsGGGATCAGCCT
c.670_680delinsGGGATCAGCCT (p.Gly224=)
c.1156_1166delinsGGGATCAGCCT (p.Gly386=)
c.*855_*865delinsGGGATCAGCCT (n.*855_*865delinsGGGATCAGCCT)
c.1024_1034delinsGGGATCAGCCT (p.Gly342=)
c.41_51delinsGGGATCAGCCT
c.1144_1154delinsGGGATCAGCCT (p.Gly382=)
c.865_875delinsGGGATCAGCCT (p.Gly289=)
c.1276_1286delinsGGGATCAGCCT (p.Gly426=)
c.272+279_272+289delinsGGGATCAGCCT (n.272+279_272+289delinsGGGATCAGCCT)
c.937_947delinsGGGATCAGCCT (p.Gly313=)
c.805_815delinsGGGATCAGCCT (p.Gly269=)
c.802_812delinsGGGATCAGCCT (p.Gly268=)
c.886_896delinsGGGATCAGCCT (p.Gly296=)
c.817_827delinsGGGATCAGCCT (p.Gly273=)
c.-149_-139delinsGGGATCAGCCT (n.-149_-139delinsGGGATCAGCCT)
12g.55698422G>ACA480149489ITGA7c.*777C>T (n.*777C>T)
c.17C>T
n.17C>T
c.679C>T (p.Leu227=)
c.1165C>T (p.Leu389=)
c.*864C>T (n.*864C>T)
c.1033C>T (p.Leu345=)
c.50C>T
c.1153C>T (p.Leu385=)
c.874C>T (p.Leu292=)
c.1285C>T (p.Leu429=)
c.272+288C>T (n.272+288C>T)
c.946C>T (p.Leu316=)
c.814C>T (p.Leu272=)
c.811C>T (p.Leu271=)
c.895C>T (p.Leu299=)
c.826C>T (p.Leu276=)
c.-140C>T (n.-140C>T)
12g.55698422G>CCA385190074ITGA7c.*777C>G (n.*777C>G)
c.17C>G
n.17C>G
c.679C>G (p.Leu227Val)
c.1165C>G (p.Leu389Val)
c.*864C>G (n.*864C>G)
c.1033C>G (p.Leu345Val)
c.50C>G
c.1153C>G (p.Leu385Val)
c.874C>G (p.Leu292Val)
c.1285C>G (p.Leu429Val)
c.272+288C>G (n.272+288C>G)
c.946C>G (p.Leu316Val)
c.814C>G (p.Leu272Val)
c.811C>G (p.Leu271Val)
c.895C>G (p.Leu299Val)
c.826C>G (p.Leu276Val)
c.-140C>G (n.-140C>G)
 gnomAD v4
12g.55698422G>TCA385190075ITGA7c.*777C>A (n.*777C>A)
c.17C>A
n.17C>A
c.679C>A (p.Leu227Met)
c.1165C>A (p.Leu389Met)
c.*864C>A (n.*864C>A)
c.1033C>A (p.Leu345Met)
c.50C>A
c.1153C>A (p.Leu385Met)
c.874C>A (p.Leu292Met)
c.1285C>A (p.Leu429Met)
c.272+288C>A (n.272+288C>A)
c.946C>A (p.Leu316Met)
c.814C>A (p.Leu272Met)
c.811C>A (p.Leu271Met)
c.895C>A (p.Leu299Met)
c.826C>A (p.Leu276Met)
c.-140C>A (n.-140C>A)
12g.55698423_55698432delCA690130594ITGA7c.*776-8_*777del
c.8_17del
n.8_17del
c.670_679del (p.Gly224TrpfsTer?)
c.1156_1165del (p.Gly386TrpfsTer?)
c.*855_*864del (n.*855_*864del)
c.1024_1033del (p.Gly342TrpfsTer?)
c.41_50del
c.1144_1153del (p.Gly382TrpfsTer?)
c.865_874del (p.Gly289TrpfsTer?)
c.1276_1285del (p.Gly426TrpfsTer?)
c.272+279_272+288del (n.272+279_272+288del)
c.937_946del (p.Gly313TrpfsTer?)
c.805_814del (p.Gly269TrpfsTer?)
c.802_811del (p.Gly268TrpfsTer?)
c.886_895del (p.Gly296TrpfsTer?)
c.817_826del (p.Gly273TrpfsTer?)
c.-149_-140del (n.-149_-140del)
 dbSNP gnomAD v3 gnomAD v4
12g.55698423G>ACA480149490ITGA7c.*776C>T (n.*776C>T)
c.16C>T
n.16C>T
c.678C>T (p.Ser226=)
c.1164C>T (p.Ser388=)
c.*863C>T (n.*863C>T)
c.1032C>T (p.Ser344=)
c.49C>T
c.1152C>T (p.Ser384=)
c.873C>T (p.Ser291=)
c.1284C>T (p.Ser428=)
c.272+287C>T (n.272+287C>T)
c.945C>T (p.Ser315=)
c.813C>T (p.Ser271=)
c.810C>T (p.Ser270=)
c.894C>T (p.Ser298=)
c.825C>T (p.Ser275=)
c.-141C>T (n.-141C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.55698423G>CCA385190076ITGA7c.*776C>G (n.*776C>G)
c.16C>G
n.16C>G
c.678C>G (p.Ser226Arg)
c.1164C>G (p.Ser388Arg)
c.*863C>G (n.*863C>G)
c.1032C>G (p.Ser344Arg)
c.49C>G
c.1152C>G (p.Ser384Arg)
c.873C>G (p.Ser291Arg)
c.1284C>G (p.Ser428Arg)
c.272+287C>G (n.272+287C>G)
c.945C>G (p.Ser315Arg)
c.813C>G (p.Ser271Arg)
c.810C>G (p.Ser270Arg)
c.894C>G (p.Ser298Arg)
c.825C>G (p.Ser275Arg)
c.-141C>G (n.-141C>G)
12g.55698423G=CA2038044414ITGA7c.*776C= (n.*776C=)
c.16C=
n.16C=
c.678C= (p.Ser226=)
c.1164C= (p.Ser388=)
c.*863C= (n.*863C=)
c.1032C= (p.Ser344=)
c.49C=
c.1152C= (p.Ser384=)
c.873C= (p.Ser291=)
c.1284C= (p.Ser428=)
c.272+287C= (n.272+287C=)
c.945C= (p.Ser315=)
c.813C= (p.Ser271=)
c.810C= (p.Ser270=)
c.894C= (p.Ser298=)
c.825C= (p.Ser275=)
c.-141C= (n.-141C=)
12g.55698423G>TCA6616044ITGA7c.*776C>A (n.*776C>A)
c.16C>A
n.16C>A
c.678C>A (p.Ser226Arg)
c.1164C>A (p.Ser388Arg)
c.*863C>A (n.*863C>A)
c.1032C>A (p.Ser344Arg)
c.49C>A
c.1152C>A (p.Ser384Arg)
c.873C>A (p.Ser291Arg)
c.1284C>A (p.Ser428Arg)
c.272+287C>A (n.272+287C>A)
c.945C>A (p.Ser315Arg)
c.813C>A (p.Ser271Arg)
c.810C>A (p.Ser270Arg)
c.894C>A (p.Ser298Arg)
c.825C>A (p.Ser275Arg)
c.-141C>A (n.-141C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698424C>ACA385190077ITGA7c.*776-1G>T (n.*776-1G>T)
c.15G>T
n.15G>T
c.677G>T (p.Ser226Ile)
c.1163G>T (p.Ser388Ile)
c.*862G>T (n.*862G>T)
c.1031G>T (p.Ser344Ile)
c.48G>T
c.1151G>T (p.Ser384Ile)
c.872G>T (p.Ser291Ile)
c.1283G>T (p.Ser428Ile)
c.272+286G>T (n.272+286G>T)
c.944G>T (p.Ser315Ile)
c.812G>T (p.Ser271Ile)
c.809G>T (p.Ser270Ile)
c.893G>T (p.Ser298Ile)
c.824G>T (p.Ser275Ile)
c.-142G>T (n.-142G>T)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
12g.55698424C>GCA385190078ITGA7c.*776-1G>C (n.*776-1G>C)
c.15G>C
n.15G>C
c.677G>C (p.Ser226Thr)
c.1163G>C (p.Ser388Thr)
c.*862G>C (n.*862G>C)
c.1031G>C (p.Ser344Thr)
c.48G>C
c.1151G>C (p.Ser384Thr)
c.872G>C (p.Ser291Thr)
c.1283G>C (p.Ser428Thr)
c.272+286G>C (n.272+286G>C)
c.944G>C (p.Ser315Thr)
c.812G>C (p.Ser271Thr)
c.809G>C (p.Ser270Thr)
c.893G>C (p.Ser298Thr)
c.824G>C (p.Ser275Thr)
c.-142G>C (n.-142G>C)
 gnomAD v4
12g.55698424C>TCA385190079ITGA7c.*776-1G>A (n.*776-1G>A)
c.15G>A
n.15G>A
c.677G>A (p.Ser226Asn)
c.1163G>A (p.Ser388Asn)
c.*862G>A (n.*862G>A)
c.1031G>A (p.Ser344Asn)
c.48G>A
c.1151G>A (p.Ser384Asn)
c.872G>A (p.Ser291Asn)
c.1283G>A (p.Ser428Asn)
c.272+286G>A (n.272+286G>A)
c.944G>A (p.Ser315Asn)
c.812G>A (p.Ser271Asn)
c.809G>A (p.Ser270Asn)
c.893G>A (p.Ser298Asn)
c.824G>A (p.Ser275Asn)
c.-142G>A (n.-142G>A)
12g.55698425T>ACA385190082ITGA7c.*776-2A>T (n.*776-2A>T)
c.14A>T
n.14A>T
c.676A>T (p.Ser226Cys)
c.1162A>T (p.Ser388Cys)
c.*861A>T (n.*861A>T)
c.1030A>T (p.Ser344Cys)
c.47A>T
c.1150A>T (p.Ser384Cys)
c.871A>T (p.Ser291Cys)
c.1282A>T (p.Ser428Cys)
c.272+285A>T (n.272+285A>T)
c.943A>T (p.Ser315Cys)
c.811A>T (p.Ser271Cys)
c.808A>T (p.Ser270Cys)
c.892A>T (p.Ser298Cys)
c.823A>T (p.Ser275Cys)
c.-143A>T (n.-143A>T)
12g.55698425T>CCA385190081ITGA7c.*776-2A>G (n.*776-2A>G)
c.14A>G
n.14A>G
c.676A>G (p.Ser226Gly)
c.1162A>G (p.Ser388Gly)
c.*861A>G (n.*861A>G)
c.1030A>G (p.Ser344Gly)
c.47A>G
c.1150A>G (p.Ser384Gly)
c.871A>G (p.Ser291Gly)
c.1282A>G (p.Ser428Gly)
c.272+285A>G (n.272+285A>G)
c.943A>G (p.Ser315Gly)
c.811A>G (p.Ser271Gly)
c.808A>G (p.Ser270Gly)
c.892A>G (p.Ser298Gly)
c.823A>G (p.Ser275Gly)
c.-143A>G (n.-143A>G)
12g.55698425T>GCA385190080ITGA7c.*776-2A>C (n.*776-2A>C)
c.14A>C
n.14A>C
c.676A>C (p.Ser226Arg)
c.1162A>C (p.Ser388Arg)
c.*861A>C (n.*861A>C)
c.1030A>C (p.Ser344Arg)
c.47A>C
c.1150A>C (p.Ser384Arg)
c.871A>C (p.Ser291Arg)
c.1282A>C (p.Ser428Arg)
c.272+285A>C (n.272+285A>C)
c.943A>C (p.Ser315Arg)
c.811A>C (p.Ser271Arg)
c.808A>C (p.Ser270Arg)
c.892A>C (p.Ser298Arg)
c.823A>C (p.Ser275Arg)
c.-143A>C (n.-143A>C)
12g.55698426G>ACA480149491ITGA7c.*776-3C>T (n.*776-3C>T)
c.13C>T
n.13C>T
c.675C>T (p.Ile225=)
c.1161C>T (p.Ile387=)
c.*860C>T (n.*860C>T)
c.1029C>T (p.Ile343=)
c.46C>T
c.1149C>T (p.Ile383=)
c.870C>T (p.Ile290=)
c.1281C>T (p.Ile427=)
c.272+284C>T (n.272+284C>T)
c.942C>T (p.Ile314=)
c.810C>T (p.Ile270=)
c.807C>T (p.Ile269=)
c.891C>T (p.Ile297=)
c.822C>T (p.Ile274=)
c.-144C>T (n.-144C>T)
12g.55698426G>CCA385190083ITGA7c.*776-3C>G (n.*776-3C>G)
c.13C>G
n.13C>G
c.675C>G (p.Ile225Met)
c.1161C>G (p.Ile387Met)
c.*860C>G (n.*860C>G)
c.1029C>G (p.Ile343Met)
c.46C>G
c.1149C>G (p.Ile383Met)
c.870C>G (p.Ile290Met)
c.1281C>G (p.Ile427Met)
c.272+284C>G (n.272+284C>G)
c.942C>G (p.Ile314Met)
c.810C>G (p.Ile270Met)
c.807C>G (p.Ile269Met)
c.891C>G (p.Ile297Met)
c.822C>G (p.Ile274Met)
c.-144C>G (n.-144C>G)
12g.55698426G>TCA480149492ITGA7c.*776-3C>A (n.*776-3C>A)
c.13C>A
n.13C>A
c.675C>A (p.Ile225=)
c.1161C>A (p.Ile387=)
c.*860C>A (n.*860C>A)
c.1029C>A (p.Ile343=)
c.46C>A
c.1149C>A (p.Ile383=)
c.870C>A (p.Ile290=)
c.1281C>A (p.Ile427=)
c.272+284C>A (n.272+284C>A)
c.942C>A (p.Ile314=)
c.810C>A (p.Ile270=)
c.807C>A (p.Ile269=)
c.891C>A (p.Ile297=)
c.822C>A (p.Ile274=)
c.-144C>A (n.-144C>A)
12g.55698427A>CCA385190086ITGA7c.*776-4T>G (n.*776-4T>G)
c.12T>G
n.12T>G
c.674T>G (p.Ile225Ser)
c.1160T>G (p.Ile387Ser)
c.*859T>G (n.*859T>G)
c.1028T>G (p.Ile343Ser)
c.45T>G
c.1148T>G (p.Ile383Ser)
c.869T>G (p.Ile290Ser)
c.1280T>G (p.Ile427Ser)
c.272+283T>G (n.272+283T>G)
c.941T>G (p.Ile314Ser)
c.809T>G (p.Ile270Ser)
c.806T>G (p.Ile269Ser)
c.890T>G (p.Ile297Ser)
c.821T>G (p.Ile274Ser)
c.-145T>G (n.-145T>G)
12g.55698427A>GCA385190084ITGA7c.*776-4T>C (n.*776-4T>C)
c.12T>C
n.12T>C
c.674T>C (p.Ile225Thr)
c.1160T>C (p.Ile387Thr)
c.*859T>C (n.*859T>C)
c.1028T>C (p.Ile343Thr)
c.45T>C
c.1148T>C (p.Ile383Thr)
c.869T>C (p.Ile290Thr)
c.1280T>C (p.Ile427Thr)
c.272+283T>C (n.272+283T>C)
c.941T>C (p.Ile314Thr)
c.809T>C (p.Ile270Thr)
c.806T>C (p.Ile269Thr)
c.890T>C (p.Ile297Thr)
c.821T>C (p.Ile274Thr)
c.-145T>C (n.-145T>C)
12g.55698427A>TCA385190085ITGA7c.*776-4T>A (n.*776-4T>A)
c.12T>A
n.12T>A
c.674T>A (p.Ile225Asn)
c.1160T>A (p.Ile387Asn)
c.*859T>A (n.*859T>A)
c.1028T>A (p.Ile343Asn)
c.45T>A
c.1148T>A (p.Ile383Asn)
c.869T>A (p.Ile290Asn)
c.1280T>A (p.Ile427Asn)
c.272+283T>A (n.272+283T>A)
c.941T>A (p.Ile314Asn)
c.809T>A (p.Ile270Asn)
c.806T>A (p.Ile269Asn)
c.890T>A (p.Ile297Asn)
c.821T>A (p.Ile274Asn)
c.-145T>A (n.-145T>A)
12g.55698428T>ACA385190087ITGA7c.*776-5A>T (n.*776-5A>T)
c.11A>T
n.11A>T
c.673A>T (p.Ile225Phe)
c.1159A>T (p.Ile387Phe)
c.*858A>T (n.*858A>T)
c.1027A>T (p.Ile343Phe)
c.44A>T
c.1147A>T (p.Ile383Phe)
c.868A>T (p.Ile290Phe)
c.1279A>T (p.Ile427Phe)
c.272+282A>T (n.272+282A>T)
c.940A>T (p.Ile314Phe)
c.808A>T (p.Ile270Phe)
c.805A>T (p.Ile269Phe)
c.889A>T (p.Ile297Phe)
c.820A>T (p.Ile274Phe)
c.-146A>T (n.-146A>T)
12g.55698428T>CCA385190088ITGA7c.*776-5A>G (n.*776-5A>G)
c.11A>G
n.11A>G
c.673A>G (p.Ile225Val)
c.1159A>G (p.Ile387Val)
c.*858A>G (n.*858A>G)
c.1027A>G (p.Ile343Val)
c.44A>G
c.1147A>G (p.Ile383Val)
c.868A>G (p.Ile290Val)
c.1279A>G (p.Ile427Val)
c.272+282A>G (n.272+282A>G)
c.940A>G (p.Ile314Val)
c.808A>G (p.Ile270Val)
c.805A>G (p.Ile269Val)
c.889A>G (p.Ile297Val)
c.820A>G (p.Ile274Val)
c.-146A>G (n.-146A>G)
12g.55698428T>GCA385190089ITGA7c.*776-5A>C (n.*776-5A>C)
c.11A>C
n.11A>C
c.673A>C (p.Ile225Leu)
c.1159A>C (p.Ile387Leu)
c.*858A>C (n.*858A>C)
c.1027A>C (p.Ile343Leu)
c.44A>C
c.1147A>C (p.Ile383Leu)
c.868A>C (p.Ile290Leu)
c.1279A>C (p.Ile427Leu)
c.272+282A>C (n.272+282A>C)
c.940A>C (p.Ile314Leu)
c.808A>C (p.Ile270Leu)
c.805A>C (p.Ile269Leu)
c.889A>C (p.Ile297Leu)
c.820A>C (p.Ile274Leu)
c.-146A>C (n.-146A>C)
12g.55698429C>ACA480149493ITGA7c.*776-6G>T (n.*776-6G>T)
c.10G>T
n.10G>T
c.672G>T (p.Gly224=)
c.1158G>T (p.Gly386=)
c.*857G>T (n.*857G>T)
c.1026G>T (p.Gly342=)
c.43G>T
c.1146G>T (p.Gly382=)
c.867G>T (p.Gly289=)
c.1278G>T (p.Gly426=)
c.272+281G>T (n.272+281G>T)
c.939G>T (p.Gly313=)
c.807G>T (p.Gly269=)
c.804G>T (p.Gly268=)
c.888G>T (p.Gly296=)
c.819G>T (p.Gly273=)
c.-147G>T (n.-147G>T)
12g.55698429C>GCA480149494ITGA7c.*776-6G>C (n.*776-6G>C)
c.10G>C
n.10G>C
c.672G>C (p.Gly224=)
c.1158G>C (p.Gly386=)
c.*857G>C (n.*857G>C)
c.1026G>C (p.Gly342=)
c.43G>C
c.1146G>C (p.Gly382=)
c.867G>C (p.Gly289=)
c.1278G>C (p.Gly426=)
c.272+281G>C (n.272+281G>C)
c.939G>C (p.Gly313=)
c.807G>C (p.Gly269=)
c.804G>C (p.Gly268=)
c.888G>C (p.Gly296=)
c.819G>C (p.Gly273=)
c.-147G>C (n.-147G>C)
 gnomAD v4
12g.55698429C>TCA480149495ITGA7c.*776-6G>A (n.*776-6G>A)
c.10G>A
n.10G>A
c.672G>A (p.Gly224=)
c.1158G>A (p.Gly386=)
c.*857G>A (n.*857G>A)
c.1026G>A (p.Gly342=)
c.43G>A
c.1146G>A (p.Gly382=)
c.867G>A (p.Gly289=)
c.1278G>A (p.Gly426=)
c.272+281G>A (n.272+281G>A)
c.939G>A (p.Gly313=)
c.807G>A (p.Gly269=)
c.804G>A (p.Gly268=)
c.888G>A (p.Gly296=)
c.819G>A (p.Gly273=)
c.-147G>A (n.-147G>A)
 gnomAD v4
12g.55698430C>ACA385190091ITGA7c.*776-7G>T (n.*776-7G>T)
c.9G>T
n.9G>T
c.671G>T (p.Gly224Val)
c.1157G>T (p.Gly386Val)
c.*856G>T (n.*856G>T)
c.1025G>T (p.Gly342Val)
c.42G>T
c.1145G>T (p.Gly382Val)
c.866G>T (p.Gly289Val)
c.1277G>T (p.Gly426Val)
c.272+280G>T (n.272+280G>T)
c.938G>T (p.Gly313Val)
c.806G>T (p.Gly269Val)
c.803G>T (p.Gly268Val)
c.887G>T (p.Gly296Val)
c.818G>T (p.Gly273Val)
c.-148G>T (n.-148G>T)
12g.55698430C>GCA385190092ITGA7c.*776-7G>C (n.*776-7G>C)
c.9G>C
n.9G>C
c.671G>C (p.Gly224Ala)
c.1157G>C (p.Gly386Ala)
c.*856G>C (n.*856G>C)
c.1025G>C (p.Gly342Ala)
c.42G>C
c.1145G>C (p.Gly382Ala)
c.866G>C (p.Gly289Ala)
c.1277G>C (p.Gly426Ala)
c.272+280G>C (n.272+280G>C)
c.938G>C (p.Gly313Ala)
c.806G>C (p.Gly269Ala)
c.803G>C (p.Gly268Ala)
c.887G>C (p.Gly296Ala)
c.818G>C (p.Gly273Ala)
c.-148G>C (n.-148G>C)
12g.55698430C>TCA385190094ITGA7c.*776-7G>A (n.*776-7G>A)
c.9G>A
n.9G>A
c.671G>A (p.Gly224Glu)
c.1157G>A (p.Gly386Glu)
c.*856G>A (n.*856G>A)
c.1025G>A (p.Gly342Glu)
c.42G>A
c.1145G>A (p.Gly382Glu)
c.866G>A (p.Gly289Glu)
c.1277G>A (p.Gly426Glu)
c.272+280G>A (n.272+280G>A)
c.938G>A (p.Gly313Glu)
c.806G>A (p.Gly269Glu)
c.803G>A (p.Gly268Glu)
c.887G>A (p.Gly296Glu)
c.818G>A (p.Gly273Glu)
c.-148G>A (n.-148G>A)
12g.55698431C>ACA385190095ITGA7c.*776-8G>T (n.*776-8G>T)
c.8G>T
n.8G>T
c.670G>T (p.Gly224Trp)
c.1156G>T (p.Gly386Trp)
c.*855G>T (n.*855G>T)
c.1024G>T (p.Gly342Trp)
c.41G>T
c.1144G>T (p.Gly382Trp)
c.865G>T (p.Gly289Trp)
c.1276G>T (p.Gly426Trp)
c.272+279G>T (n.272+279G>T)
c.937G>T (p.Gly313Trp)
c.805G>T (p.Gly269Trp)
c.802G>T (p.Gly268Trp)
c.886G>T (p.Gly296Trp)
c.817G>T (p.Gly273Trp)
c.-149G>T (n.-149G>T)
12g.55698431C=CA2038044422ITGA7c.*776-8G= (n.*776-8G=)
c.8G=
n.8G=
c.670G= (p.Gly224=)
c.1156G= (p.Gly386=)
c.*855G= (n.*855G=)
c.1024G= (p.Gly342=)
c.41G=
c.1144G= (p.Gly382=)
c.865G= (p.Gly289=)
c.1276G= (p.Gly426=)
c.272+279G= (n.272+279G=)
c.937G= (p.Gly313=)
c.805G= (p.Gly269=)
c.802G= (p.Gly268=)
c.886G= (p.Gly296=)
c.817G= (p.Gly273=)
c.-149G= (n.-149G=)
12g.55698431C>GCA385190097ITGA7c.*776-8G>C (n.*776-8G>C)
c.8G>C
n.8G>C
c.670G>C (p.Gly224Arg)
c.1156G>C (p.Gly386Arg)
c.*855G>C (n.*855G>C)
c.1024G>C (p.Gly342Arg)
c.41G>C
c.1144G>C (p.Gly382Arg)
c.865G>C (p.Gly289Arg)
c.1276G>C (p.Gly426Arg)
c.272+279G>C (n.272+279G>C)
c.937G>C (p.Gly313Arg)
c.805G>C (p.Gly269Arg)
c.802G>C (p.Gly268Arg)
c.886G>C (p.Gly296Arg)
c.817G>C (p.Gly273Arg)
c.-149G>C (n.-149G>C)
12g.55698431C>TCA6616045ITGA7c.*776-8G>A (n.*776-8G>A)
c.8G>A
n.8G>A
c.670G>A (p.Gly224Arg)
c.1156G>A (p.Gly386Arg)
c.*855G>A (n.*855G>A)
c.1024G>A (p.Gly342Arg)
c.41G>A
c.1144G>A (p.Gly382Arg)
c.865G>A (p.Gly289Arg)
c.1276G>A (p.Gly426Arg)
c.272+279G>A (n.272+279G>A)
c.937G>A (p.Gly313Arg)
c.805G>A (p.Gly269Arg)
c.802G>A (p.Gly268Arg)
c.886G>A (p.Gly296Arg)
c.817G>A (p.Gly273Arg)
c.-149G>A (n.-149G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55698432G>ACA6616046ITGA7c.*776-9C>T (n.*776-9C>T)
c.7C>T
n.7C>T
c.669C>T (p.Phe223=)
c.1155C>T (p.Phe385=)
c.*854C>T (n.*854C>T)
c.1023C>T (p.Phe341=)
c.40C>T
c.1143C>T (p.Phe381=)
c.864C>T (p.Phe288=)
c.1275C>T (p.Phe425=)
c.272+278C>T (n.272+278C>T)
c.936C>T (p.Phe312=)
c.804C>T (p.Phe268=)
c.801C>T (p.Phe267=)
c.885C>T (p.Phe295=)
c.816C>T (p.Phe272=)
c.-150C>T (n.-150C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55698432G>CCA385190100ITGA7c.*776-9C>G (n.*776-9C>G)
c.7C>G
n.7C>G
c.669C>G (p.Phe223Leu)
c.1155C>G (p.Phe385Leu)
c.*854C>G (n.*854C>G)
c.1023C>G (p.Phe341Leu)
c.40C>G
c.1143C>G (p.Phe381Leu)
c.864C>G (p.Phe288Leu)
c.1275C>G (p.Phe425Leu)
c.272+278C>G (n.272+278C>G)
c.936C>G (p.Phe312Leu)
c.804C>G (p.Phe268Leu)
c.801C>G (p.Phe267Leu)
c.885C>G (p.Phe295Leu)
c.816C>G (p.Phe272Leu)
c.-150C>G (n.-150C>G)
12g.55698432G=CA2038044435ITGA7c.*776-9C= (n.*776-9C=)
c.7C=
n.7C=
c.669C= (p.Phe223=)
c.1155C= (p.Phe385=)
c.*854C= (n.*854C=)
c.1023C= (p.Phe341=)
c.40C=
c.1143C= (p.Phe381=)
c.864C= (p.Phe288=)
c.1275C= (p.Phe425=)
c.272+278C= (n.272+278C=)
c.936C= (p.Phe312=)
c.804C= (p.Phe268=)
c.801C= (p.Phe267=)
c.885C= (p.Phe295=)
c.816C= (p.Phe272=)
c.-150C= (n.-150C=)
12g.55698432G>TCA385190098ITGA7c.*776-9C>A (n.*776-9C>A)
c.7C>A
n.7C>A
c.669C>A (p.Phe223Leu)
c.1155C>A (p.Phe385Leu)
c.*854C>A (n.*854C>A)
c.1023C>A (p.Phe341Leu)
c.40C>A
c.1143C>A (p.Phe381Leu)
c.864C>A (p.Phe288Leu)
c.1275C>A (p.Phe425Leu)
c.272+278C>A (n.272+278C>A)
c.936C>A (p.Phe312Leu)
c.804C>A (p.Phe268Leu)
c.801C>A (p.Phe267Leu)
c.885C>A (p.Phe295Leu)
c.816C>A (p.Phe272Leu)
c.-150C>A (n.-150C>A)
12g.55698433A>CCA385190102ITGA7c.*776-10T>G (n.*776-10T>G)
c.6T>G
n.6T>G
c.668T>G (p.Phe223Cys)
c.1154T>G (p.Phe385Cys)
c.*853T>G (n.*853T>G)
c.1022T>G (p.Phe341Cys)
c.39T>G
c.1142T>G (p.Phe381Cys)
c.863T>G (p.Phe288Cys)
c.1274T>G (p.Phe425Cys)
c.272+277T>G (n.272+277T>G)
c.935T>G (p.Phe312Cys)
c.803T>G (p.Phe268Cys)
c.800T>G (p.Phe267Cys)
c.884T>G (p.Phe295Cys)
c.815T>G (p.Phe272Cys)
c.-151T>G (n.-151T>G)
12g.55698433A>GCA385190104ITGA7c.*776-10T>C (n.*776-10T>C)
c.6T>C
n.6T>C
c.668T>C (p.Phe223Ser)
c.1154T>C (p.Phe385Ser)
c.*853T>C (n.*853T>C)
c.1022T>C (p.Phe341Ser)
c.39T>C
c.1142T>C (p.Phe381Ser)
c.863T>C (p.Phe288Ser)
c.1274T>C (p.Phe425Ser)
c.272+277T>C (n.272+277T>C)
c.935T>C (p.Phe312Ser)
c.803T>C (p.Phe268Ser)
c.800T>C (p.Phe267Ser)
c.884T>C (p.Phe295Ser)
c.815T>C (p.Phe272Ser)
c.-151T>C (n.-151T>C)
12g.55698433A>TCA385190105ITGA7c.*776-10T>A (n.*776-10T>A)
c.6T>A
n.6T>A
c.668T>A (p.Phe223Tyr)
c.1154T>A (p.Phe385Tyr)
c.*853T>A (n.*853T>A)
c.1022T>A (p.Phe341Tyr)
c.39T>A
c.1142T>A (p.Phe381Tyr)
c.863T>A (p.Phe288Tyr)
c.1274T>A (p.Phe425Tyr)
c.272+277T>A (n.272+277T>A)
c.935T>A (p.Phe312Tyr)
c.803T>A (p.Phe268Tyr)
c.800T>A (p.Phe267Tyr)
c.884T>A (p.Phe295Tyr)
c.815T>A (p.Phe272Tyr)
c.-151T>A (n.-151T>A)
12g.55698434A=CA2038044440ITGA7c.*776-11T= (n.*776-11T=)
c.5T=
n.5T=
c.667T= (p.Phe223=)
c.1153T= (p.Phe385=)
c.*852T= (n.*852T=)
c.1021T= (p.Phe341=)
c.38T=
c.1141T= (p.Phe381=)
c.862T= (p.Phe288=)
c.1273T= (p.Phe425=)
c.272+276T= (n.272+276T=)
c.934T= (p.Phe312=)
c.802T= (p.Phe268=)
c.799T= (p.Phe267=)
c.883T= (p.Phe295=)
c.814T= (p.Phe272=)
c.-152T= (n.-152T=)
12g.55698434A>CCA385190106ITGA7c.*776-11T>G (n.*776-11T>G)
c.5T>G
n.5T>G
c.667T>G (p.Phe223Val)
c.1153T>G (p.Phe385Val)
c.*852T>G (n.*852T>G)
c.1021T>G (p.Phe341Val)
c.38T>G
c.1141T>G (p.Phe381Val)
c.862T>G (p.Phe288Val)
c.1273T>G (p.Phe425Val)
c.272+276T>G (n.272+276T>G)
c.934T>G (p.Phe312Val)
c.802T>G (p.Phe268Val)
c.799T>G (p.Phe267Val)
c.883T>G (p.Phe295Val)
c.814T>G (p.Phe272Val)
c.-152T>G (n.-152T>G)
12g.55698434A>GCA385190108ITGA7c.*776-11T>C (n.*776-11T>C)
c.5T>C
n.5T>C
c.667T>C (p.Phe223Leu)
c.1153T>C (p.Phe385Leu)
c.*852T>C (n.*852T>C)
c.1021T>C (p.Phe341Leu)
c.38T>C
c.1141T>C (p.Phe381Leu)
c.862T>C (p.Phe288Leu)
c.1273T>C (p.Phe425Leu)
c.272+276T>C (n.272+276T>C)
c.934T>C (p.Phe312Leu)
c.802T>C (p.Phe268Leu)
c.799T>C (p.Phe267Leu)
c.883T>C (p.Phe295Leu)
c.814T>C (p.Phe272Leu)
c.-152T>C (n.-152T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.55698434A>TCA385190109ITGA7c.*776-11T>A (n.*776-11T>A)
c.5T>A
n.5T>A
c.667T>A (p.Phe223Ile)
c.1153T>A (p.Phe385Ile)
c.*852T>A (n.*852T>A)
c.1021T>A (p.Phe341Ile)
c.38T>A
c.1141T>A (p.Phe381Ile)
c.862T>A (p.Phe288Ile)
c.1273T>A (p.Phe425Ile)
c.272+276T>A (n.272+276T>A)
c.934T>A (p.Phe312Ile)
c.802T>A (p.Phe268Ile)
c.799T>A (p.Phe267Ile)
c.883T>A (p.Phe295Ile)
c.814T>A (p.Phe272Ile)
c.-152T>A (n.-152T>A)
12g.55698435C>ACA385190111ITGA7c.*776-12G>T (n.*776-12G>T)
c.4G>T
n.4G>T
c.666G>T (p.Met222Ile)
c.1152G>T (p.Met384Ile)
c.*851G>T (n.*851G>T)
c.1020G>T (p.Met340Ile)
c.37G>T
c.1140G>T (p.Met380Ile)
c.861G>T (p.Met287Ile)
c.1272G>T (p.Met424Ile)
c.272+275G>T (n.272+275G>T)
c.933G>T (p.Met311Ile)
c.801G>T (p.Met267Ile)
c.798G>T (p.Met266Ile)
c.882G>T (p.Met294Ile)
c.813G>T (p.Met271Ile)
c.-153G>T (n.-153G>T)
12g.55698435C>GCA385190113ITGA7c.*776-12G>C (n.*776-12G>C)
c.4G>C
n.4G>C
c.666G>C (p.Met222Ile)
c.1152G>C (p.Met384Ile)
c.*851G>C (n.*851G>C)
c.1020G>C (p.Met340Ile)
c.37G>C
c.1140G>C (p.Met380Ile)
c.861G>C (p.Met287Ile)
c.1272G>C (p.Met424Ile)
c.272+275G>C (n.272+275G>C)
c.933G>C (p.Met311Ile)
c.801G>C (p.Met267Ile)
c.798G>C (p.Met266Ile)
c.882G>C (p.Met294Ile)
c.813G>C (p.Met271Ile)
c.-153G>C (n.-153G>C)
12g.55698435C>TCA385190114ITGA7c.*776-12G>A (n.*776-12G>A)
c.4G>A
n.4G>A
c.666G>A (p.Met222Ile)
c.1152G>A (p.Met384Ile)
c.*851G>A (n.*851G>A)
c.1020G>A (p.Met340Ile)
c.37G>A
c.1140G>A (p.Met380Ile)
c.861G>A (p.Met287Ile)
c.1272G>A (p.Met424Ile)
c.272+275G>A (n.272+275G>A)
c.933G>A (p.Met311Ile)
c.801G>A (p.Met267Ile)
c.798G>A (p.Met266Ile)
c.882G>A (p.Met294Ile)
c.813G>A (p.Met271Ile)
c.-153G>A (n.-153G>A)
12g.55698436A=CA2038044444ITGA7c.*776-13T= (n.*776-13T=)
c.3T=
n.3T=
c.665T= (p.Met222=)
c.1151T= (p.Met384=)
c.*850T= (n.*850T=)
c.1019T= (p.Met340=)
c.36T=
c.1139T= (p.Met380=)
c.860T= (p.Met287=)
c.1271T= (p.Met424=)
c.272+274T= (n.272+274T=)
c.932T= (p.Met311=)
c.800T= (p.Met267=)
c.797T= (p.Met266=)
c.881T= (p.Met294=)
c.812T= (p.Met271=)
c.-154T= (n.-154T=)
12g.55698436A>CCA385190116ITGA7c.*776-13T>G (n.*776-13T>G)
c.3T>G
n.3T>G
c.665T>G (p.Met222Arg)
c.1151T>G (p.Met384Arg)
c.*850T>G (n.*850T>G)
c.1019T>G (p.Met340Arg)
c.36T>G
c.1139T>G (p.Met380Arg)
c.860T>G (p.Met287Arg)
c.1271T>G (p.Met424Arg)
c.272+274T>G (n.272+274T>G)
c.932T>G (p.Met311Arg)
c.800T>G (p.Met267Arg)
c.797T>G (p.Met266Arg)
c.881T>G (p.Met294Arg)
c.812T>G (p.Met271Arg)
c.-154T>G (n.-154T>G)
12g.55698436A>GCA6616047ITGA7c.*776-13T>C (n.*776-13T>C)
c.3T>C
n.3T>C
c.665T>C (p.Met222Thr)
c.1151T>C (p.Met384Thr)
c.*850T>C (n.*850T>C)
c.1019T>C (p.Met340Thr)
c.36T>C
c.1139T>C (p.Met380Thr)
c.860T>C (p.Met287Thr)
c.1271T>C (p.Met424Thr)
c.272+274T>C (n.272+274T>C)
c.932T>C (p.Met311Thr)
c.800T>C (p.Met267Thr)
c.797T>C (p.Met266Thr)
c.881T>C (p.Met294Thr)
c.812T>C (p.Met271Thr)
c.-154T>C (n.-154T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55698436A>TCA385190118ITGA7c.*776-13T>A (n.*776-13T>A)
c.3T>A
n.3T>A
c.665T>A (p.Met222Lys)
c.1151T>A (p.Met384Lys)
c.*850T>A (n.*850T>A)
c.1019T>A (p.Met340Lys)
c.36T>A
c.1139T>A (p.Met380Lys)
c.860T>A (p.Met287Lys)
c.1271T>A (p.Met424Lys)
c.272+274T>A (n.272+274T>A)
c.932T>A (p.Met311Lys)
c.800T>A (p.Met267Lys)
c.797T>A (p.Met266Lys)
c.881T>A (p.Met294Lys)
c.812T>A (p.Met271Lys)
c.-154T>A (n.-154T>A)
12g.55698437T>ACA385190123ITGA7c.*776-14A>T (n.*776-14A>T)
c.2A>T
n.2A>T
c.664A>T (p.Met222Leu)
c.1150A>T (p.Met384Leu)
c.*849A>T (n.*849A>T)
c.1018A>T (p.Met340Leu)
c.35A>T
c.1138A>T (p.Met380Leu)
c.859A>T (p.Met287Leu)
c.1270A>T (p.Met424Leu)
c.272+273A>T (n.272+273A>T)
c.931A>T (p.Met311Leu)
c.799A>T (p.Met267Leu)
c.796A>T (p.Met266Leu)
c.880A>T (p.Met294Leu)
c.811A>T (p.Met271Leu)
c.-155A>T (n.-155A>T)
12g.55698437T>CCA385190121ITGA7c.*776-14A>G (n.*776-14A>G)
c.2A>G
n.2A>G
c.664A>G (p.Met222Val)
c.1150A>G (p.Met384Val)
c.*849A>G (n.*849A>G)
c.1018A>G (p.Met340Val)
c.35A>G
c.1138A>G (p.Met380Val)
c.859A>G (p.Met287Val)
c.1270A>G (p.Met424Val)
c.272+273A>G (n.272+273A>G)
c.931A>G (p.Met311Val)
c.799A>G (p.Met267Val)
c.796A>G (p.Met266Val)
c.880A>G (p.Met294Val)
c.811A>G (p.Met271Val)
c.-155A>G (n.-155A>G)
 gnomAD v4
12g.55698437T>GCA385190120ITGA7c.*776-14A>C (n.*776-14A>C)
c.2A>C
n.2A>C
c.664A>C (p.Met222Leu)
c.1150A>C (p.Met384Leu)
c.*849A>C (n.*849A>C)
c.1018A>C (p.Met340Leu)
c.35A>C
c.1138A>C (p.Met380Leu)
c.859A>C (p.Met287Leu)
c.1270A>C (p.Met424Leu)
c.272+273A>C (n.272+273A>C)
c.931A>C (p.Met311Leu)
c.799A>C (p.Met267Leu)
c.796A>C (p.Met266Leu)
c.880A>C (p.Met294Leu)
c.811A>C (p.Met271Leu)
c.-155A>C (n.-155A>C)
 dbSNP
12g.55698437T=CA2038044456ITGA7c.*776-14A= (n.*776-14A=)
c.2A=
n.2A=
c.664A= (p.Met222=)
c.1150A= (p.Met384=)
c.*849A= (n.*849A=)
c.1018A= (p.Met340=)
c.35A=
c.1138A= (p.Met380=)
c.859A= (p.Met287=)
c.1270A= (p.Met424=)
c.272+273A= (n.272+273A=)
c.931A= (p.Met311=)
c.799A= (p.Met267=)
c.796A= (p.Met266=)
c.880A= (p.Met294=)
c.811A= (p.Met271=)
c.-155A= (n.-155A=)
12g.55698438G>ACA480149496ITGA7c.*776-15C>T (n.*776-15C>T)
c.1C>T
n.1C>T
c.663C>T (p.Ser221=)
c.1149C>T (p.Ser383=)
c.*848C>T (n.*848C>T)
c.1017C>T (p.Ser339=)
c.34C>T
c.1137C>T (p.Ser379=)
c.858C>T (p.Ser286=)
c.1269C>T (p.Ser423=)
c.272+272C>T (n.272+272C>T)
c.930C>T (p.Ser310=)
c.798C>T (p.Ser266=)
c.795C>T (p.Ser265=)
c.879C>T (p.Ser293=)
c.810C>T (p.Ser270=)
c.-156C>T (n.-156C>T)
 COSMIC COSMIC COSMIC COSMIC
12g.55698438G>CCA480149497ITGA7c.*776-15C>G (n.*776-15C>G)
c.1C>G
n.1C>G
c.663C>G (p.Ser221=)
c.1149C>G (p.Ser383=)
c.*848C>G (n.*848C>G)
c.1017C>G (p.Ser339=)
c.34C>G
c.1137C>G (p.Ser379=)
c.858C>G (p.Ser286=)
c.1269C>G (p.Ser423=)
c.272+272C>G (n.272+272C>G)
c.930C>G (p.Ser310=)
c.798C>G (p.Ser266=)
c.795C>G (p.Ser265=)
c.879C>G (p.Ser293=)
c.810C>G (p.Ser270=)
c.-156C>G (n.-156C>G)
12g.55698438G>TCA480149498ITGA7c.*776-15C>A (n.*776-15C>A)
c.1C>A
n.1C>A
c.663C>A (p.Ser221=)
c.1149C>A (p.Ser383=)
c.*848C>A (n.*848C>A)
c.1017C>A (p.Ser339=)
c.34C>A
c.1137C>A (p.Ser379=)
c.858C>A (p.Ser286=)
c.1269C>A (p.Ser423=)
c.272+272C>A (n.272+272C>A)
c.930C>A (p.Ser310=)
c.798C>A (p.Ser266=)
c.795C>A (p.Ser265=)
c.879C>A (p.Ser293=)
c.810C>A (p.Ser270=)
c.-156C>A (n.-156C>A)
12g.55698439G>ACA385190125ITGA7c.*776-16C>T (n.*776-16C>T)
c.662C>T (p.Ser221Phe)
c.1148C>T (p.Ser383Phe)
c.*847C>T (n.*847C>T)
c.1016C>T (p.Ser339Phe)
c.33C>T
c.1136C>T (p.Ser379Phe)
c.857C>T (p.Ser286Phe)
c.1268C>T (p.Ser423Phe)
c.272+271C>T (n.272+271C>T)
c.929C>T (p.Ser310Phe)
c.797C>T (p.Ser266Phe)
c.794C>T (p.Ser265Phe)
c.878C>T (p.Ser293Phe)
c.809C>T (p.Ser270Phe)
c.-157C>T (n.-157C>T)
12g.55698439G>CCA385190126ITGA7c.*776-16C>G (n.*776-16C>G)
c.662C>G (p.Ser221Cys)
c.1148C>G (p.Ser383Cys)
c.*847C>G (n.*847C>G)
c.1016C>G (p.Ser339Cys)
c.33C>G
c.1136C>G (p.Ser379Cys)
c.857C>G (p.Ser286Cys)
c.1268C>G (p.Ser423Cys)
c.272+271C>G (n.272+271C>G)
c.929C>G (p.Ser310Cys)
c.797C>G (p.Ser266Cys)
c.794C>G (p.Ser265Cys)
c.878C>G (p.Ser293Cys)
c.809C>G (p.Ser270Cys)
c.-157C>G (n.-157C>G)
12g.55698439G=CA2038044461ITGA7c.*776-16C= (n.*776-16C=)
c.662C= (p.Ser221=)
c.1148C= (p.Ser383=)
c.*847C= (n.*847C=)
c.1016C= (p.Ser339=)
c.33C=
c.1136C= (p.Ser379=)
c.857C= (p.Ser286=)
c.1268C= (p.Ser423=)
c.272+271C= (n.272+271C=)
c.929C= (p.Ser310=)
c.797C= (p.Ser266=)
c.794C= (p.Ser265=)
c.878C= (p.Ser293=)
c.809C= (p.Ser270=)
c.-157C= (n.-157C=)
12g.55698439G>TCA385190128ITGA7c.*776-16C>A (n.*776-16C>A)
c.662C>A (p.Ser221Tyr)
c.1148C>A (p.Ser383Tyr)
c.*847C>A (n.*847C>A)
c.1016C>A (p.Ser339Tyr)
c.33C>A
c.1136C>A (p.Ser379Tyr)
c.857C>A (p.Ser286Tyr)
c.1268C>A (p.Ser423Tyr)
c.272+271C>A (n.272+271C>A)
c.929C>A (p.Ser310Tyr)
c.797C>A (p.Ser266Tyr)
c.794C>A (p.Ser265Tyr)
c.878C>A (p.Ser293Tyr)
c.809C>A (p.Ser270Tyr)
c.-157C>A (n.-157C>A)
12g.55698439_55698440insGATCCA2038044465ITGA7c.*776-17_*776-16insGATC (n.*776-17_*776-16insGATC)
c.661_662insGATC (p.Ser221Ter)
c.1147_1148insGATC (p.Ser383Ter)
c.*846_*847insGATC (n.*846_*847insGATC)
c.1015_1016insGATC (p.Ser339Ter)
c.32_33insGATC
c.1135_1136insGATC (p.Ser379Ter)
c.856_857insGATC (p.Ser286Ter)
c.1267_1268insGATC (p.Ser423Ter)
c.272+270_272+271insGATC (n.272+270_272+271insGATC)
c.928_929insGATC (p.Ser310Ter)
c.796_797insGATC (p.Ser266Ter)
c.793_794insGATC (p.Ser265Ter)
c.877_878insGATC (p.Ser293Ter)
c.808_809insGATC (p.Ser270Ter)
c.-158_-157insGATC (n.-158_-157insGATC)
 dbSNP
12g.55698440A>CCA385190129ITGA7c.*776-17T>G (n.*776-17T>G)
c.661T>G (p.Ser221Ala)
c.1147T>G (p.Ser383Ala)
c.*846T>G (n.*846T>G)
c.1015T>G (p.Ser339Ala)
c.32T>G
c.1135T>G (p.Ser379Ala)
c.856T>G (p.Ser286Ala)
c.1267T>G (p.Ser423Ala)
c.272+270T>G (n.272+270T>G)
c.928T>G (p.Ser310Ala)
c.796T>G (p.Ser266Ala)
c.793T>G (p.Ser265Ala)
c.877T>G (p.Ser293Ala)
c.808T>G (p.Ser270Ala)
c.-158T>G (n.-158T>G)
12g.55698440A>GCA385190130ITGA7c.*776-17T>C (n.*776-17T>C)
c.661T>C (p.Ser221Pro)
c.1147T>C (p.Ser383Pro)
c.*846T>C (n.*846T>C)
c.1015T>C (p.Ser339Pro)
c.32T>C
c.1135T>C (p.Ser379Pro)
c.856T>C (p.Ser286Pro)
c.1267T>C (p.Ser423Pro)
c.272+270T>C (n.272+270T>C)
c.928T>C (p.Ser310Pro)
c.796T>C (p.Ser266Pro)
c.793T>C (p.Ser265Pro)
c.877T>C (p.Ser293Pro)
c.808T>C (p.Ser270Pro)
c.-158T>C (n.-158T>C)
12g.55698440A>TCA385190131ITGA7c.*776-17T>A (n.*776-17T>A)
c.661T>A (p.Ser221Thr)
c.1147T>A (p.Ser383Thr)
c.*846T>A (n.*846T>A)
c.1015T>A (p.Ser339Thr)
c.32T>A
c.1135T>A (p.Ser379Thr)
c.856T>A (p.Ser286Thr)
c.1267T>A (p.Ser423Thr)
c.272+270T>A (n.272+270T>A)
c.928T>A (p.Ser310Thr)
c.796T>A (p.Ser266Thr)
c.793T>A (p.Ser265Thr)
c.877T>A (p.Ser293Thr)
c.808T>A (p.Ser270Thr)
c.-158T>A (n.-158T>A)
12g.55698441G>ACA237574784ITGA7c.*776-18C>T (n.*776-18C>T)
c.660C>T (p.Asp220=)
c.1146C>T (p.Asp382=)
c.*845C>T (n.*845C>T)
c.1014C>T (p.Asp338=)
c.31C>T
c.1134C>T (p.Asp378=)
c.855C>T (p.Asp285=)
c.1266C>T (p.Asp422=)
c.272+269C>T (n.272+269C>T)
c.927C>T (p.Asp309=)
c.795C>T (p.Asp265=)
c.792C>T (p.Asp264=)
c.876C>T (p.Asp292=)
c.807C>T (p.Asp269=)
c.-159C>T (n.-159C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55698441G>CCA385190134ITGA7c.*776-18C>G (n.*776-18C>G)
c.660C>G (p.Asp220Glu)
c.1146C>G (p.Asp382Glu)
c.*845C>G (n.*845C>G)
c.1014C>G (p.Asp338Glu)
c.31C>G
c.1134C>G (p.Asp378Glu)
c.855C>G (p.Asp285Glu)
c.1266C>G (p.Asp422Glu)
c.272+269C>G (n.272+269C>G)
c.927C>G (p.Asp309Glu)
c.795C>G (p.Asp265Glu)
c.792C>G (p.Asp264Glu)
c.876C>G (p.Asp292Glu)
c.807C>G (p.Asp269Glu)
c.-159C>G (n.-159C>G)
12g.55698441G=CA2038044473ITGA7c.*776-18C= (n.*776-18C=)
c.660C= (p.Asp220=)
c.1146C= (p.Asp382=)
c.*845C= (n.*845C=)
c.1014C= (p.Asp338=)
c.31C=
c.1134C= (p.Asp378=)
c.855C= (p.Asp285=)
c.1266C= (p.Asp422=)
c.272+269C= (n.272+269C=)
c.927C= (p.Asp309=)
c.795C= (p.Asp265=)
c.792C= (p.Asp264=)
c.876C= (p.Asp292=)
c.807C= (p.Asp269=)
c.-159C= (n.-159C=)
12g.55698441G>TCA385190133ITGA7c.*776-18C>A (n.*776-18C>A)
c.660C>A (p.Asp220Glu)
c.1146C>A (p.Asp382Glu)
c.*845C>A (n.*845C>A)
c.1014C>A (p.Asp338Glu)
c.31C>A
c.1134C>A (p.Asp378Glu)
c.855C>A (p.Asp285Glu)
c.1266C>A (p.Asp422Glu)
c.272+269C>A (n.272+269C>A)
c.927C>A (p.Asp309Glu)
c.795C>A (p.Asp265Glu)
c.792C>A (p.Asp264Glu)
c.876C>A (p.Asp292Glu)
c.807C>A (p.Asp269Glu)
c.-159C>A (n.-159C>A)
12g.55698441_55698442insCAGAGGATCTGCCA2038044477ITGA7c.*776-19_*776-18insGCAGATCCTCTG (n.*776-19_*776-18insGCAGATCCTCTG)
c.659_660insGCAGATCCTCTG (p.Asp220delinsGluGlnIleLeuCys)
c.1145_1146insGCAGATCCTCTG (p.Asp382delinsGluGlnIleLeuCys)
c.*844_*845insGCAGATCCTCTG (n.*844_*845insGCAGATCCTCTG)
c.1013_1014insGCAGATCCTCTG (p.Asp338delinsGluGlnIleLeuCys)
c.30_31insGCAGATCCTCTG
c.1133_1134insGCAGATCCTCTG (p.Asp378delinsGluGlnIleLeuCys)
c.854_855insGCAGATCCTCTG (p.Asp285delinsGluGlnIleLeuCys)
c.1265_1266insGCAGATCCTCTG (p.Asp422delinsGluGlnIleLeuCys)
c.272+268_272+269insGCAGATCCTCTG (n.272+268_272+269insGCAGATCCTCTG)
c.926_927insGCAGATCCTCTG (p.Asp309delinsGluGlnIleLeuCys)
c.794_795insGCAGATCCTCTG (p.Asp265delinsGluGlnIleLeuCys)
c.791_792insGCAGATCCTCTG (p.Asp264delinsGluGlnIleLeuCys)
c.875_876insGCAGATCCTCTG (p.Asp292delinsGluGlnIleLeuCys)
c.806_807insGCAGATCCTCTG (p.Asp269delinsGluGlnIleLeuCys)
c.-160_-159insGCAGATCCTCTG (n.-160_-159insGCAGATCCTCTG)
 dbSNP
12g.55698442T>ACA385190136ITGA7c.*776-19A>T (n.*776-19A>T)
c.659A>T (p.Asp220Val)
c.1145A>T (p.Asp382Val)
c.*844A>T (n.*844A>T)
c.1013A>T (p.Asp338Val)
c.30A>T
c.1133A>T (p.Asp378Val)
c.854A>T (p.Asp285Val)
c.1265A>T (p.Asp422Val)
c.272+268A>T (n.272+268A>T)
c.926A>T (p.Asp309Val)
c.794A>T (p.Asp265Val)
c.791A>T (p.Asp264Val)
c.875A>T (p.Asp292Val)
c.806A>T (p.Asp269Val)
c.-160A>T (n.-160A>T)
12g.55698442T>CCA385190138ITGA7c.*776-19A>G (n.*776-19A>G)
c.659A>G (p.Asp220Gly)
c.1145A>G (p.Asp382Gly)
c.*844A>G (n.*844A>G)
c.1013A>G (p.Asp338Gly)
c.30A>G
c.1133A>G (p.Asp378Gly)
c.854A>G (p.Asp285Gly)
c.1265A>G (p.Asp422Gly)
c.272+268A>G (n.272+268A>G)
c.926A>G (p.Asp309Gly)
c.794A>G (p.Asp265Gly)
c.791A>G (p.Asp264Gly)
c.875A>G (p.Asp292Gly)
c.806A>G (p.Asp269Gly)
c.-160A>G (n.-160A>G)
 dbSNP
12g.55698442T>GCA385190139ITGA7c.*776-19A>C (n.*776-19A>C)
c.659A>C (p.Asp220Ala)
c.1145A>C (p.Asp382Ala)
c.*844A>C (n.*844A>C)
c.1013A>C (p.Asp338Ala)
c.30A>C
c.1133A>C (p.Asp378Ala)
c.854A>C (p.Asp285Ala)
c.1265A>C (p.Asp422Ala)
c.272+268A>C (n.272+268A>C)
c.926A>C (p.Asp309Ala)
c.794A>C (p.Asp265Ala)
c.791A>C (p.Asp264Ala)
c.875A>C (p.Asp292Ala)
c.806A>C (p.Asp269Ala)
c.-160A>C (n.-160A>C)
12g.55698442T=CA2038044478ITGA7c.*776-19A= (n.*776-19A=)
c.659A= (p.Asp220=)
c.1145A= (p.Asp382=)
c.*844A= (n.*844A=)
c.1013A= (p.Asp338=)
c.30A=
c.1133A= (p.Asp378=)
c.854A= (p.Asp285=)
c.1265A= (p.Asp422=)
c.272+268A= (n.272+268A=)
c.926A= (p.Asp309=)
c.794A= (p.Asp265=)
c.791A= (p.Asp264=)
c.875A= (p.Asp292=)
c.806A= (p.Asp269=)
c.-160A= (n.-160A=)
12g.55698443C>ACA385190141ITGA7c.*776-20G>T (n.*776-20G>T)
c.658G>T (p.Asp220Tyr)
c.1144G>T (p.Asp382Tyr)
c.*843G>T (n.*843G>T)
c.1012G>T (p.Asp338Tyr)
c.29G>T
c.1132G>T (p.Asp378Tyr)
c.853G>T (p.Asp285Tyr)
c.1264G>T (p.Asp422Tyr)
c.272+267G>T (n.272+267G>T)
c.925G>T (p.Asp309Tyr)
c.793G>T (p.Asp265Tyr)
c.790G>T (p.Asp264Tyr)
c.874G>T (p.Asp292Tyr)
c.805G>T (p.Asp269Tyr)
c.-161G>T (n.-161G>T)
12g.55698443C=CA2038044484ITGA7c.*776-20G= (n.*776-20G=)
c.658G= (p.Asp220=)
c.1144G= (p.Asp382=)
c.*843G= (n.*843G=)
c.1012G= (p.Asp338=)
c.29G=
c.1132G= (p.Asp378=)
c.853G= (p.Asp285=)
c.1264G= (p.Asp422=)
c.272+267G= (n.272+267G=)
c.925G= (p.Asp309=)
c.793G= (p.Asp265=)
c.790G= (p.Asp264=)
c.874G= (p.Asp292=)
c.805G= (p.Asp269=)
c.-161G= (n.-161G=)
12g.55698443C>GCA385190142ITGA7c.*776-20G>C (n.*776-20G>C)
c.658G>C (p.Asp220His)
c.1144G>C (p.Asp382His)
c.*843G>C (n.*843G>C)
c.1012G>C (p.Asp338His)
c.29G>C
c.1132G>C (p.Asp378His)
c.853G>C (p.Asp285His)
c.1264G>C (p.Asp422His)
c.272+267G>C (n.272+267G>C)
c.925G>C (p.Asp309His)
c.793G>C (p.Asp265His)
c.790G>C (p.Asp264His)
c.874G>C (p.Asp292His)
c.805G>C (p.Asp269His)
c.-161G>C (n.-161G>C)
12g.55698443C>TCA6616048ITGA7c.*776-20G>A (n.*776-20G>A)
c.658G>A (p.Asp220Asn)
c.1144G>A (p.Asp382Asn)
c.*843G>A (n.*843G>A)
c.1012G>A (p.Asp338Asn)
c.29G>A
c.1132G>A (p.Asp378Asn)
c.853G>A (p.Asp285Asn)
c.1264G>A (p.Asp422Asn)
c.272+267G>A (n.272+267G>A)
c.925G>A (p.Asp309Asn)
c.793G>A (p.Asp265Asn)
c.790G>A (p.Asp264Asn)
c.874G>A (p.Asp292Asn)
c.805G>A (p.Asp269Asn)
c.-161G>A (n.-161G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
12g.55698444delCA2619202509ITGA7c.*776-21del (n.*776-21del)
c.657del (p.Asp220ThrfsTer?)
c.1143del (p.Asp382ThrfsTer?)
c.*842del (n.*842del)
c.1011del (p.Asp338ThrfsTer?)
c.28del
c.1131del (p.Asp378ThrfsTer?)
c.852del (p.Asp285ThrfsTer?)
c.1263del (p.Asp422ThrfsTer?)
c.272+266del (n.272+266del)
c.924del (p.Asp309ThrfsTer?)
c.792del (p.Asp265ThrfsTer?)
c.789del (p.Asp264ThrfsTer?)
c.873del (p.Asp292ThrfsTer?)
c.804del (p.Asp269ThrfsTer?)
c.-162del (n.-162del)
 gnomAD v4
12g.55698444A>CCA480149499ITGA7c.*776-21T>G (n.*776-21T>G)
c.657T>G (p.Pro219=)
c.1143T>G (p.Pro381=)
c.*842T>G (n.*842T>G)
c.1011T>G (p.Pro337=)
c.28T>G
c.1131T>G (p.Pro377=)
c.852T>G (p.Pro284=)
c.1263T>G (p.Pro421=)
c.272+266T>G (n.272+266T>G)
c.924T>G (p.Pro308=)
c.792T>G (p.Pro264=)
c.789T>G (p.Pro263=)
c.873T>G (p.Pro291=)
c.804T>G (p.Pro268=)
c.-162T>G (n.-162T>G)
12g.55698444A>GCA480149500ITGA7c.*776-21T>C (n.*776-21T>C)
c.657T>C (p.Pro219=)
c.1143T>C (p.Pro381=)
c.*842T>C (n.*842T>C)
c.1011T>C (p.Pro337=)
c.28T>C
c.1131T>C (p.Pro377=)
c.852T>C (p.Pro284=)
c.1263T>C (p.Pro421=)
c.272+266T>C (n.272+266T>C)
c.924T>C (p.Pro308=)
c.792T>C (p.Pro264=)
c.789T>C (p.Pro263=)
c.873T>C (p.Pro291=)
c.804T>C (p.Pro268=)
c.-162T>C (n.-162T>C)
12g.55698444A>TCA480149501ITGA7c.*776-21T>A (n.*776-21T>A)
c.657T>A (p.Pro219=)
c.1143T>A (p.Pro381=)
c.*842T>A (n.*842T>A)
c.1011T>A (p.Pro337=)
c.28T>A
c.1131T>A (p.Pro377=)
c.852T>A (p.Pro284=)
c.1263T>A (p.Pro421=)
c.272+266T>A (n.272+266T>A)
c.924T>A (p.Pro308=)
c.792T>A (p.Pro264=)
c.789T>A (p.Pro263=)
c.873T>A (p.Pro291=)
c.804T>A (p.Pro268=)
c.-162T>A (n.-162T>A)
12g.55698444_55698445delinsAGCA2038044489ITGA7c.*776-22_*776-21delinsCT (n.*776-22_*776-21delinsCT)
c.656_657delinsCT (p.Pro219=)
c.1142_1143delinsCT (p.Pro381=)
c.*841_*842delinsCT (n.*841_*842delinsCT)
c.1010_1011delinsCT (p.Pro337=)
c.27_28delinsCT
c.1130_1131delinsCT (p.Pro377=)
c.851_852delinsCT (p.Pro284=)
c.1262_1263delinsCT (p.Pro421=)
c.272+265_272+266delinsCT (n.272+265_272+266delinsCT)
c.923_924delinsCT (p.Pro308=)
c.791_792delinsCT (p.Pro264=)
c.788_789delinsCT (p.Pro263=)
c.872_873delinsCT (p.Pro291=)
c.803_804delinsCT (p.Pro268=)
c.-163_-162delinsCT (n.-163_-162delinsCT)
12g.55698445G>ACA385190144ITGA7c.*776-22C>T (n.*776-22C>T)
c.656C>T (p.Pro219Leu)
c.1142C>T (p.Pro381Leu)
c.*841C>T (n.*841C>T)
c.1010C>T (p.Pro337Leu)
c.27C>T
c.1130C>T (p.Pro377Leu)
c.851C>T (p.Pro284Leu)
c.1262C>T (p.Pro421Leu)
c.272+265C>T (n.272+265C>T)
c.923C>T (p.Pro308Leu)
c.791C>T (p.Pro264Leu)
c.788C>T (p.Pro263Leu)
c.872C>T (p.Pro291Leu)
c.803C>T (p.Pro268Leu)
c.-163C>T (n.-163C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.55698445G>CCA385190148ITGA7c.*776-22C>G (n.*776-22C>G)
c.656C>G (p.Pro219Arg)
c.1142C>G (p.Pro381Arg)
c.*841C>G (n.*841C>G)
c.1010C>G (p.Pro337Arg)
c.27C>G
c.1130C>G (p.Pro377Arg)
c.851C>G (p.Pro284Arg)
c.1262C>G (p.Pro421Arg)
c.272+265C>G (n.272+265C>G)
c.923C>G (p.Pro308Arg)
c.791C>G (p.Pro264Arg)
c.788C>G (p.Pro263Arg)
c.872C>G (p.Pro291Arg)
c.803C>G (p.Pro268Arg)
c.-163C>G (n.-163C>G)
 dbSNP gnomAD v4
12g.55698445G=CA2038044492ITGA7c.*776-22C= (n.*776-22C=)
c.656C= (p.Pro219=)
c.1142C= (p.Pro381=)
c.*841C= (n.*841C=)
c.1010C= (p.Pro337=)
c.27C=
c.1130C= (p.Pro377=)
c.851C= (p.Pro284=)
c.1262C= (p.Pro421=)
c.272+265C= (n.272+265C=)
c.923C= (p.Pro308=)
c.791C= (p.Pro264=)
c.788C= (p.Pro263=)
c.872C= (p.Pro291=)
c.803C= (p.Pro268=)
c.-163C= (n.-163C=)
12g.55698445G>TCA385190146ITGA7c.*776-22C>A (n.*776-22C>A)
c.656C>A (p.Pro219His)
c.1142C>A (p.Pro381His)
c.*841C>A (n.*841C>A)
c.1010C>A (p.Pro337His)
c.27C>A
c.1130C>A (p.Pro377His)
c.851C>A (p.Pro284His)
c.1262C>A (p.Pro421His)
c.272+265C>A (n.272+265C>A)
c.923C>A (p.Pro308His)
c.791C>A (p.Pro264His)
c.788C>A (p.Pro263His)
c.872C>A (p.Pro291His)
c.803C>A (p.Pro268His)
c.-163C>A (n.-163C>A)
12g.55698448delCA2038044495ITGA7c.*776-22del (n.*776-22del)
c.656del (p.Pro219LeufsTer?)
c.1142del (p.Pro381LeufsTer?)
c.*841del (n.*841del)
c.1010del (p.Pro337LeufsTer?)
c.27del
c.1130del (p.Pro377LeufsTer?)
c.851del (p.Pro284LeufsTer?)
c.1262del (p.Pro421LeufsTer?)
c.272+265del (n.272+265del)
c.923del (p.Pro308LeufsTer?)
c.791del (p.Pro264LeufsTer?)
c.788del (p.Pro263LeufsTer?)
c.872del (p.Pro291LeufsTer?)
c.803del (p.Pro268LeufsTer?)
c.-163del (n.-163del)
 dbSNP
12g.55698446G>ACA6616049ITGA7c.*776-23C>T (n.*776-23C>T)
c.655C>T (p.Pro219Ser)
c.1141C>T (p.Pro381Ser)
c.*840C>T (n.*840C>T)
c.1009C>T (p.Pro337Ser)
c.26C>T
c.1129C>T (p.Pro377Ser)
c.850C>T (p.Pro284Ser)
c.1261C>T (p.Pro421Ser)
c.272+264C>T (n.272+264C>T)
c.922C>T (p.Pro308Ser)
c.790C>T (p.Pro264Ser)
c.787C>T (p.Pro263Ser)
c.871C>T (p.Pro291Ser)
c.802C>T (p.Pro268Ser)
c.-164C>T (n.-164C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698446G>CCA385190150ITGA7c.*776-23C>G (n.*776-23C>G)
c.655C>G (p.Pro219Ala)
c.1141C>G (p.Pro381Ala)
c.*840C>G (n.*840C>G)
c.1009C>G (p.Pro337Ala)
c.26C>G
c.1129C>G (p.Pro377Ala)
c.850C>G (p.Pro284Ala)
c.1261C>G (p.Pro421Ala)
c.272+264C>G (n.272+264C>G)
c.922C>G (p.Pro308Ala)
c.790C>G (p.Pro264Ala)
c.787C>G (p.Pro263Ala)
c.871C>G (p.Pro291Ala)
c.802C>G (p.Pro268Ala)
c.-164C>G (n.-164C>G)
12g.55698446G=CA2038044503ITGA7c.*776-23C= (n.*776-23C=)
c.655C= (p.Pro219=)
c.1141C= (p.Pro381=)
c.*840C= (n.*840C=)
c.1009C= (p.Pro337=)
c.26C=
c.1129C= (p.Pro377=)
c.850C= (p.Pro284=)
c.1261C= (p.Pro421=)
c.272+264C= (n.272+264C=)
c.922C= (p.Pro308=)
c.790C= (p.Pro264=)
c.787C= (p.Pro263=)
c.871C= (p.Pro291=)
c.802C= (p.Pro268=)
c.-164C= (n.-164C=)
12g.55698446G>TCA385190151ITGA7c.*776-23C>A (n.*776-23C>A)
c.655C>A (p.Pro219Thr)
c.1141C>A (p.Pro381Thr)
c.*840C>A (n.*840C>A)
c.1009C>A (p.Pro337Thr)
c.26C>A
c.1129C>A (p.Pro377Thr)
c.850C>A (p.Pro284Thr)
c.1261C>A (p.Pro421Thr)
c.272+264C>A (n.272+264C>A)
c.922C>A (p.Pro308Thr)
c.790C>A (p.Pro264Thr)
c.787C>A (p.Pro263Thr)
c.871C>A (p.Pro291Thr)
c.802C>A (p.Pro268Thr)
c.-164C>A (n.-164C>A)
12g.55698447G>ACA6616050ITGA7c.*776-24C>T (n.*776-24C>T)
c.654C>T (p.Ser218=)
c.1140C>T (p.Ser380=)
c.*839C>T (n.*839C>T)
c.1008C>T (p.Ser336=)
c.25C>T
c.1128C>T (p.Ser376=)
c.849C>T (p.Ser283=)
c.1260C>T (p.Ser420=)
c.272+263C>T (n.272+263C>T)
c.921C>T (p.Ser307=)
c.789C>T (p.Ser263=)
c.786C>T (p.Ser262=)
c.870C>T (p.Ser290=)
c.801C>T (p.Ser267=)
c.-165C>T (n.-165C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698447G>CCA480149502ITGA7c.*776-24C>G (n.*776-24C>G)
c.654C>G (p.Ser218=)
c.1140C>G (p.Ser380=)
c.*839C>G (n.*839C>G)
c.1008C>G (p.Ser336=)
c.25C>G
c.1128C>G (p.Ser376=)
c.849C>G (p.Ser283=)
c.1260C>G (p.Ser420=)
c.272+263C>G (n.272+263C>G)
c.921C>G (p.Ser307=)
c.789C>G (p.Ser263=)
c.786C>G (p.Ser262=)
c.870C>G (p.Ser290=)
c.801C>G (p.Ser267=)
c.-165C>G (n.-165C>G)
12g.55698447G=CA2038044506ITGA7c.*776-24C= (n.*776-24C=)
c.654C= (p.Ser218=)
c.1140C= (p.Ser380=)
c.*839C= (n.*839C=)
c.1008C= (p.Ser336=)
c.25C=
c.1128C= (p.Ser376=)
c.849C= (p.Ser283=)
c.1260C= (p.Ser420=)
c.272+263C= (n.272+263C=)
c.921C= (p.Ser307=)
c.789C= (p.Ser263=)
c.786C= (p.Ser262=)
c.870C= (p.Ser290=)
c.801C= (p.Ser267=)
c.-165C= (n.-165C=)
12g.55698447G>TCA480149503ITGA7c.*776-24C>A (n.*776-24C>A)
c.654C>A (p.Ser218=)
c.1140C>A (p.Ser380=)
c.*839C>A (n.*839C>A)
c.1008C>A (p.Ser336=)
c.25C>A
c.1128C>A (p.Ser376=)
c.849C>A (p.Ser283=)
c.1260C>A (p.Ser420=)
c.272+263C>A (n.272+263C>A)
c.921C>A (p.Ser307=)
c.789C>A (p.Ser263=)
c.786C>A (p.Ser262=)
c.870C>A (p.Ser290=)
c.801C>A (p.Ser267=)
c.-165C>A (n.-165C>A)
 gnomAD v4
12g.55698448G>ACA6616051ITGA7c.*776-25C>T (n.*776-25C>T)
c.653C>T (p.Ser218Phe)
c.1139C>T (p.Ser380Phe)
c.*838C>T (n.*838C>T)
c.1007C>T (p.Ser336Phe)
c.24C>T
c.1127C>T (p.Ser376Phe)
c.848C>T (p.Ser283Phe)
c.1259C>T (p.Ser420Phe)
c.272+262C>T (n.272+262C>T)
c.920C>T (p.Ser307Phe)
c.788C>T (p.Ser263Phe)
c.785C>T (p.Ser262Phe)
c.869C>T (p.Ser290Phe)
c.800C>T (p.Ser267Phe)
c.-166C>T (n.-166C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
12g.55698448G>CCA385190152ITGA7c.*776-25C>G (n.*776-25C>G)
c.653C>G (p.Ser218Cys)
c.1139C>G (p.Ser380Cys)
c.*838C>G (n.*838C>G)
c.1007C>G (p.Ser336Cys)
c.24C>G
c.1127C>G (p.Ser376Cys)
c.848C>G (p.Ser283Cys)
c.1259C>G (p.Ser420Cys)
c.272+262C>G (n.272+262C>G)
c.920C>G (p.Ser307Cys)
c.788C>G (p.Ser263Cys)
c.785C>G (p.Ser262Cys)
c.869C>G (p.Ser290Cys)
c.800C>G (p.Ser267Cys)
c.-166C>G (n.-166C>G)
12g.55698448G=CA2038044512ITGA7c.*776-25C= (n.*776-25C=)
c.653C= (p.Ser218=)
c.1139C= (p.Ser380=)
c.*838C= (n.*838C=)
c.1007C= (p.Ser336=)
c.24C=
c.1127C= (p.Ser376=)
c.848C= (p.Ser283=)
c.1259C= (p.Ser420=)
c.272+262C= (n.272+262C=)
c.920C= (p.Ser307=)
c.788C= (p.Ser263=)
c.785C= (p.Ser262=)
c.869C= (p.Ser290=)
c.800C= (p.Ser267=)
c.-166C= (n.-166C=)
12g.55698448G>TCA385190153ITGA7c.*776-25C>A (n.*776-25C>A)
c.653C>A (p.Ser218Tyr)
c.1139C>A (p.Ser380Tyr)
c.*838C>A (n.*838C>A)
c.1007C>A (p.Ser336Tyr)
c.24C>A
c.1127C>A (p.Ser376Tyr)
c.848C>A (p.Ser283Tyr)
c.1259C>A (p.Ser420Tyr)
c.272+262C>A (n.272+262C>A)
c.920C>A (p.Ser307Tyr)
c.788C>A (p.Ser263Tyr)
c.785C>A (p.Ser262Tyr)
c.869C>A (p.Ser290Tyr)
c.800C>A (p.Ser267Tyr)
c.-166C>A (n.-166C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55698449A=CA2038044522ITGA7c.*776-26T= (n.*776-26T=)
c.652T= (p.Ser218=)
c.1138T= (p.Ser380=)
c.*837T= (n.*837T=)
c.1006T= (p.Ser336=)
c.23T=
c.1126T= (p.Ser376=)
c.847T= (p.Ser283=)
c.1258T= (p.Ser420=)
c.272+261T= (n.272+261T=)
c.919T= (p.Ser307=)
c.787T= (p.Ser263=)
c.784T= (p.Ser262=)
c.868T= (p.Ser290=)
c.799T= (p.Ser267=)
c.-167T= (n.-167T=)
12g.55698449A>CCA385190154ITGA7c.*776-26T>G (n.*776-26T>G)
c.652T>G (p.Ser218Ala)
c.1138T>G (p.Ser380Ala)
c.*837T>G (n.*837T>G)
c.1006T>G (p.Ser336Ala)
c.23T>G
c.1126T>G (p.Ser376Ala)
c.847T>G (p.Ser283Ala)
c.1258T>G (p.Ser420Ala)
c.272+261T>G (n.272+261T>G)
c.919T>G (p.Ser307Ala)
c.787T>G (p.Ser263Ala)
c.784T>G (p.Ser262Ala)
c.868T>G (p.Ser290Ala)
c.799T>G (p.Ser267Ala)
c.-167T>G (n.-167T>G)
12g.55698449A>GCA385190155ITGA7c.*776-26T>C (n.*776-26T>C)
c.652T>C (p.Ser218Pro)
c.1138T>C (p.Ser380Pro)
c.*837T>C (n.*837T>C)
c.1006T>C (p.Ser336Pro)
c.23T>C
c.1126T>C (p.Ser376Pro)
c.847T>C (p.Ser283Pro)
c.1258T>C (p.Ser420Pro)
c.272+261T>C (n.272+261T>C)
c.919T>C (p.Ser307Pro)
c.787T>C (p.Ser263Pro)
c.784T>C (p.Ser262Pro)
c.868T>C (p.Ser290Pro)
c.799T>C (p.Ser267Pro)
c.-167T>C (n.-167T>C)
12g.55698449A>TCA385190157ITGA7c.*776-26T>A (n.*776-26T>A)
c.652T>A (p.Ser218Thr)
c.1138T>A (p.Ser380Thr)
c.*837T>A (n.*837T>A)
c.1006T>A (p.Ser336Thr)
c.23T>A
c.1126T>A (p.Ser376Thr)
c.847T>A (p.Ser283Thr)
c.1258T>A (p.Ser420Thr)
c.272+261T>A (n.272+261T>A)
c.919T>A (p.Ser307Thr)
c.787T>A (p.Ser263Thr)
c.784T>A (p.Ser262Thr)
c.868T>A (p.Ser290Thr)
c.799T>A (p.Ser267Thr)
c.-167T>A (n.-167T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55698450G>ACA480149506ITGA7c.*776-27C>T (n.*776-27C>T)
c.651C>T (p.Gly217=)
c.1137C>T (p.Gly379=)
c.*836C>T (n.*836C>T)
c.1005C>T (p.Gly335=)
c.22C>T
c.1125C>T (p.Gly375=)
c.846C>T (p.Gly282=)
c.1257C>T (p.Gly419=)
c.272+260C>T (n.272+260C>T)
c.918C>T (p.Gly306=)
c.786C>T (p.Gly262=)
c.783C>T (p.Gly261=)
c.867C>T (p.Gly289=)
c.798C>T (p.Gly266=)
c.-168C>T (n.-168C>T)
12g.55698450G>CCA480149504ITGA7c.*776-27C>G (n.*776-27C>G)
c.651C>G (p.Gly217=)
c.1137C>G (p.Gly379=)
c.*836C>G (n.*836C>G)
c.1005C>G (p.Gly335=)
c.22C>G
c.1125C>G (p.Gly375=)
c.846C>G (p.Gly282=)
c.1257C>G (p.Gly419=)
c.272+260C>G (n.272+260C>G)
c.918C>G (p.Gly306=)
c.786C>G (p.Gly262=)
c.783C>G (p.Gly261=)
c.867C>G (p.Gly289=)
c.798C>G (p.Gly266=)
c.-168C>G (n.-168C>G)
12g.55698450G>TCA480149505ITGA7c.*776-27C>A (n.*776-27C>A)
c.651C>A (p.Gly217=)
c.1137C>A (p.Gly379=)
c.*836C>A (n.*836C>A)
c.1005C>A (p.Gly335=)
c.22C>A
c.1125C>A (p.Gly375=)
c.846C>A (p.Gly282=)
c.1257C>A (p.Gly419=)
c.272+260C>A (n.272+260C>A)
c.918C>A (p.Gly306=)
c.786C>A (p.Gly262=)
c.783C>A (p.Gly261=)
c.867C>A (p.Gly289=)
c.798C>A (p.Gly266=)
c.-168C>A (n.-168C>A)
12g.55698451C>ACA385190161ITGA7c.*776-28G>T (n.*776-28G>T)
c.650G>T (p.Gly217Val)
c.1136G>T (p.Gly379Val)
c.*835G>T (n.*835G>T)
c.1004G>T (p.Gly335Val)
c.21G>T
c.1124G>T (p.Gly375Val)
c.845G>T (p.Gly282Val)
c.1256G>T (p.Gly419Val)
c.272+259G>T (n.272+259G>T)
c.917G>T (p.Gly306Val)
c.785G>T (p.Gly262Val)
c.782G>T (p.Gly261Val)
c.866G>T (p.Gly289Val)
c.797G>T (p.Gly266Val)
c.-169G>T (n.-169G>T)
12g.55698451C>GCA385190159ITGA7c.*776-28G>C (n.*776-28G>C)
c.650G>C (p.Gly217Ala)
c.1136G>C (p.Gly379Ala)
c.*835G>C (n.*835G>C)
c.1004G>C (p.Gly335Ala)
c.21G>C
c.1124G>C (p.Gly375Ala)
c.845G>C (p.Gly282Ala)
c.1256G>C (p.Gly419Ala)
c.272+259G>C (n.272+259G>C)
c.917G>C (p.Gly306Ala)
c.785G>C (p.Gly262Ala)
c.782G>C (p.Gly261Ala)
c.866G>C (p.Gly289Ala)
c.797G>C (p.Gly266Ala)
c.-169G>C (n.-169G>C)
12g.55698451C>TCA385190158ITGA7c.*776-28G>A (n.*776-28G>A)
c.650G>A (p.Gly217Asp)
c.1136G>A (p.Gly379Asp)
c.*835G>A (n.*835G>A)
c.1004G>A (p.Gly335Asp)
c.21G>A
c.1124G>A (p.Gly375Asp)
c.845G>A (p.Gly282Asp)
c.1256G>A (p.Gly419Asp)
c.272+259G>A (n.272+259G>A)
c.917G>A (p.Gly306Asp)
c.785G>A (p.Gly262Asp)
c.782G>A (p.Gly261Asp)
c.866G>A (p.Gly289Asp)
c.797G>A (p.Gly266Asp)
c.-169G>A (n.-169G>A)
12g.55698452delCA2619202538ITGA7c.*776-28del (n.*776-28del)
c.650del (p.Gly217AlafsTer?)
c.1136del (p.Gly379AlafsTer?)
c.*835del (n.*835del)
c.1004del (p.Gly335AlafsTer?)
c.21del
c.1124del (p.Gly375AlafsTer?)
c.845del (p.Gly282AlafsTer?)
c.1256del (p.Gly419AlafsTer?)
c.272+259del (n.272+259del)
c.917del (p.Gly306AlafsTer?)
c.785del (p.Gly262AlafsTer?)
c.782del (p.Gly261AlafsTer?)
c.866del (p.Gly289AlafsTer?)
c.797del (p.Gly266AlafsTer?)
c.-169del (n.-169del)
 gnomAD v4
12g.55698452C>ACA385190163ITGA7c.*776-29G>T (n.*776-29G>T)
c.649G>T (p.Gly217Cys)
c.1135G>T (p.Gly379Cys)
c.*834G>T (n.*834G>T)
c.1003G>T (p.Gly335Cys)
c.20G>T
c.1123G>T (p.Gly375Cys)
c.844G>T (p.Gly282Cys)
c.1255G>T (p.Gly419Cys)
c.272+258G>T (n.272+258G>T)
c.916G>T (p.Gly306Cys)
c.784G>T (p.Gly262Cys)
c.781G>T (p.Gly261Cys)
c.865G>T (p.Gly289Cys)
c.796G>T (p.Gly266Cys)
c.-170G>T (n.-170G>T)
 COSMIC COSMIC COSMIC COSMIC
12g.55698452C=CA2038044527ITGA7c.*776-29G= (n.*776-29G=)
c.649G= (p.Gly217=)
c.1135G= (p.Gly379=)
c.*834G= (n.*834G=)
c.1003G= (p.Gly335=)
c.20G=
c.1123G= (p.Gly375=)
c.844G= (p.Gly282=)
c.1255G= (p.Gly419=)
c.272+258G= (n.272+258G=)
c.916G= (p.Gly306=)
c.784G= (p.Gly262=)
c.781G= (p.Gly261=)
c.865G= (p.Gly289=)
c.796G= (p.Gly266=)
c.-170G= (n.-170G=)
12g.55698452C>GCA385190165ITGA7c.*776-29G>C (n.*776-29G>C)
c.649G>C (p.Gly217Arg)
c.1135G>C (p.Gly379Arg)
c.*834G>C (n.*834G>C)
c.1003G>C (p.Gly335Arg)
c.20G>C
c.1123G>C (p.Gly375Arg)
c.844G>C (p.Gly282Arg)
c.1255G>C (p.Gly419Arg)
c.272+258G>C (n.272+258G>C)
c.916G>C (p.Gly306Arg)
c.784G>C (p.Gly262Arg)
c.781G>C (p.Gly261Arg)
c.865G>C (p.Gly289Arg)
c.796G>C (p.Gly266Arg)
c.-170G>C (n.-170G>C)
12g.55698452C>TCA6616052ITGA7c.*776-29G>A (n.*776-29G>A)
c.649G>A (p.Gly217Ser)
c.1135G>A (p.Gly379Ser)
c.*834G>A (n.*834G>A)
c.1003G>A (p.Gly335Ser)
c.20G>A
c.1123G>A (p.Gly375Ser)
c.844G>A (p.Gly282Ser)
c.1255G>A (p.Gly419Ser)
c.272+258G>A (n.272+258G>A)
c.916G>A (p.Gly306Ser)
c.784G>A (p.Gly262Ser)
c.781G>A (p.Gly261Ser)
c.865G>A (p.Gly289Ser)
c.796G>A (p.Gly266Ser)
c.-170G>A (n.-170G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698453G>ACA6616053ITGA7c.*776-30C>T (n.*776-30C>T)
c.648C>T (p.Cys216=)
c.1134C>T (p.Cys378=)
c.*833C>T (n.*833C>T)
c.1002C>T (p.Cys334=)
c.19C>T
c.1122C>T (p.Cys374=)
c.843C>T (p.Cys281=)
c.1254C>T (p.Cys418=)
c.272+257C>T (n.272+257C>T)
c.915C>T (p.Cys305=)
c.783C>T (p.Cys261=)
c.780C>T (p.Cys260=)
c.864C>T (p.Cys288=)
c.795C>T (p.Cys265=)
c.-171C>T (n.-171C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55698453G>CCA385190168ITGA7c.*776-30C>G (n.*776-30C>G)
c.648C>G (p.Cys216Trp)
c.1134C>G (p.Cys378Trp)
c.*833C>G (n.*833C>G)
c.1002C>G (p.Cys334Trp)
c.19C>G
c.1122C>G (p.Cys374Trp)
c.843C>G (p.Cys281Trp)
c.1254C>G (p.Cys418Trp)
c.272+257C>G (n.272+257C>G)
c.915C>G (p.Cys305Trp)
c.783C>G (p.Cys261Trp)
c.780C>G (p.Cys260Trp)
c.864C>G (p.Cys288Trp)
c.795C>G (p.Cys265Trp)
c.-171C>G (n.-171C>G)
12g.55698453G=CA2038044533ITGA7c.*776-30C= (n.*776-30C=)
c.648C= (p.Cys216=)
c.1134C= (p.Cys378=)
c.*833C= (n.*833C=)
c.1002C= (p.Cys334=)
c.19C=
c.1122C= (p.Cys374=)
c.843C= (p.Cys281=)
c.1254C= (p.Cys418=)
c.272+257C= (n.272+257C=)
c.915C= (p.Cys305=)
c.783C= (p.Cys261=)
c.780C= (p.Cys260=)
c.864C= (p.Cys288=)
c.795C= (p.Cys265=)
c.-171C= (n.-171C=)
12g.55698453G>TCA385190169ITGA7c.*776-30C>A (n.*776-30C>A)
c.648C>A (p.Cys216Ter)
c.1134C>A (p.Cys378Ter)
c.*833C>A (n.*833C>A)
c.1002C>A (p.Cys334Ter)
c.19C>A
c.1122C>A (p.Cys374Ter)
c.843C>A (p.Cys281Ter)
c.1254C>A (p.Cys418Ter)
c.272+257C>A (n.272+257C>A)
c.915C>A (p.Cys305Ter)
c.783C>A (p.Cys261Ter)
c.780C>A (p.Cys260Ter)
c.864C>A (p.Cys288Ter)
c.795C>A (p.Cys265Ter)
c.-171C>A (n.-171C>A)
12g.55698454C>ACA385190170ITGA7c.*776-31G>T (n.*776-31G>T)
c.647G>T (p.Cys216Phe)
c.1133G>T (p.Cys378Phe)
c.*832G>T (n.*832G>T)
c.1001G>T (p.Cys334Phe)
c.18G>T
c.1121G>T (p.Cys374Phe)
c.842G>T (p.Cys281Phe)
c.1253G>T (p.Cys418Phe)
c.272+256G>T (n.272+256G>T)
c.914G>T (p.Cys305Phe)
c.782G>T (p.Cys261Phe)
c.779G>T (p.Cys260Phe)
c.863G>T (p.Cys288Phe)
c.794G>T (p.Cys265Phe)
c.-172G>T (n.-172G>T)
12g.55698454C>GCA385190171ITGA7c.*776-31G>C (n.*776-31G>C)
c.647G>C (p.Cys216Ser)
c.1133G>C (p.Cys378Ser)
c.*832G>C (n.*832G>C)
c.1001G>C (p.Cys334Ser)
c.18G>C
c.1121G>C (p.Cys374Ser)
c.842G>C (p.Cys281Ser)
c.1253G>C (p.Cys418Ser)
c.272+256G>C (n.272+256G>C)
c.914G>C (p.Cys305Ser)
c.782G>C (p.Cys261Ser)
c.779G>C (p.Cys260Ser)
c.863G>C (p.Cys288Ser)
c.794G>C (p.Cys265Ser)
c.-172G>C (n.-172G>C)
12g.55698454C>TCA385190172ITGA7c.*776-31G>A (n.*776-31G>A)
c.647G>A (p.Cys216Tyr)
c.1133G>A (p.Cys378Tyr)
c.*832G>A (n.*832G>A)
c.1001G>A (p.Cys334Tyr)
c.18G>A
c.1121G>A (p.Cys374Tyr)
c.842G>A (p.Cys281Tyr)
c.1253G>A (p.Cys418Tyr)
c.272+256G>A (n.272+256G>A)
c.914G>A (p.Cys305Tyr)
c.782G>A (p.Cys261Tyr)
c.779G>A (p.Cys260Tyr)
c.863G>A (p.Cys288Tyr)
c.794G>A (p.Cys265Tyr)
c.-172G>A (n.-172G>A)
12g.55698455A>CCA385190177ITGA7c.*776-32T>G (n.*776-32T>G)
c.646T>G (p.Cys216Gly)
c.1132T>G (p.Cys378Gly)
c.*831T>G (n.*831T>G)
c.1000T>G (p.Cys334Gly)
c.17T>G
c.1120T>G (p.Cys374Gly)
c.841T>G (p.Cys281Gly)
c.1252T>G (p.Cys418Gly)
c.272+255T>G (n.272+255T>G)
c.913T>G (p.Cys305Gly)
c.781T>G (p.Cys261Gly)
c.778T>G (p.Cys260Gly)
c.862T>G (p.Cys288Gly)
c.793T>G (p.Cys265Gly)
c.-173T>G (n.-173T>G)
 gnomAD v4
12g.55698455A>GCA385190175ITGA7c.*776-32T>C (n.*776-32T>C)
c.646T>C (p.Cys216Arg)
c.1132T>C (p.Cys378Arg)
c.*831T>C (n.*831T>C)
c.1000T>C (p.Cys334Arg)
c.17T>C
c.1120T>C (p.Cys374Arg)
c.841T>C (p.Cys281Arg)
c.1252T>C (p.Cys418Arg)
c.272+255T>C (n.272+255T>C)
c.913T>C (p.Cys305Arg)
c.781T>C (p.Cys261Arg)
c.778T>C (p.Cys260Arg)
c.862T>C (p.Cys288Arg)
c.793T>C (p.Cys265Arg)
c.-173T>C (n.-173T>C)
12g.55698455A>TCA385190174ITGA7c.*776-32T>A (n.*776-32T>A)
c.646T>A (p.Cys216Ser)
c.1132T>A (p.Cys378Ser)
c.*831T>A (n.*831T>A)
c.1000T>A (p.Cys334Ser)
c.17T>A
c.1120T>A (p.Cys374Ser)
c.841T>A (p.Cys281Ser)
c.1252T>A (p.Cys418Ser)
c.272+255T>A (n.272+255T>A)
c.913T>A (p.Cys305Ser)
c.781T>A (p.Cys261Ser)
c.778T>A (p.Cys260Ser)
c.862T>A (p.Cys288Ser)
c.793T>A (p.Cys265Ser)
c.-173T>A (n.-173T>A)
12g.55698456G>ACA480149513ITGA7c.*776-33C>T (n.*776-33C>T)
c.645C>T (p.Leu215=)
c.1131C>T (p.Leu377=)
c.*830C>T (n.*830C>T)
c.999C>T (p.Leu333=)
c.16C>T
c.1119C>T (p.Leu373=)
c.840C>T (p.Leu280=)
c.1251C>T (p.Leu417=)
c.272+254C>T (n.272+254C>T)
c.912C>T (p.Leu304=)
c.780C>T (p.Leu260=)
c.777C>T (p.Leu259=)
c.861C>T (p.Leu287=)
c.792C>T (p.Leu264=)
c.-174C>T (n.-174C>T)
12g.55698456G>CCA6616054ITGA7c.*776-33C>G (n.*776-33C>G)
c.645C>G (p.Leu215=)
c.1131C>G (p.Leu377=)
c.*830C>G (n.*830C>G)
c.999C>G (p.Leu333=)
c.16C>G
c.1119C>G (p.Leu373=)
c.840C>G (p.Leu280=)
c.1251C>G (p.Leu417=)
c.272+254C>G (n.272+254C>G)
c.912C>G (p.Leu304=)
c.780C>G (p.Leu260=)
c.777C>G (p.Leu259=)
c.861C>G (p.Leu287=)
c.792C>G (p.Leu264=)
c.-174C>G (n.-174C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698456G=CA2038044537ITGA7c.*776-33C= (n.*776-33C=)
c.645C= (p.Leu215=)
c.1131C= (p.Leu377=)
c.*830C= (n.*830C=)
c.999C= (p.Leu333=)
c.16C=
c.1119C= (p.Leu373=)
c.840C= (p.Leu280=)
c.1251C= (p.Leu417=)
c.272+254C= (n.272+254C=)
c.912C= (p.Leu304=)
c.780C= (p.Leu260=)
c.777C= (p.Leu259=)
c.861C= (p.Leu287=)
c.792C= (p.Leu264=)
c.-174C= (n.-174C=)
12g.55698456G>TCA480149514ITGA7c.*776-33C>A (n.*776-33C>A)
c.645C>A (p.Leu215=)
c.1131C>A (p.Leu377=)
c.*830C>A (n.*830C>A)
c.999C>A (p.Leu333=)
c.16C>A
c.1119C>A (p.Leu373=)
c.840C>A (p.Leu280=)
c.1251C>A (p.Leu417=)
c.272+254C>A (n.272+254C>A)
c.912C>A (p.Leu304=)
c.780C>A (p.Leu260=)
c.777C>A (p.Leu259=)
c.861C>A (p.Leu287=)
c.792C>A (p.Leu264=)
c.-174C>A (n.-174C>A)
12g.55698457A>CCA385190179ITGA7c.*776-34T>G (n.*776-34T>G)
c.644T>G (p.Leu215Arg)
c.1130T>G (p.Leu377Arg)
c.*829T>G (n.*829T>G)
c.998T>G (p.Leu333Arg)
c.15T>G
c.1118T>G (p.Leu373Arg)
c.839T>G (p.Leu280Arg)
c.1250T>G (p.Leu417Arg)
c.272+253T>G (n.272+253T>G)
c.911T>G (p.Leu304Arg)
c.779T>G (p.Leu260Arg)
c.776T>G (p.Leu259Arg)
c.860T>G (p.Leu287Arg)
c.791T>G (p.Leu264Arg)
c.-175T>G (n.-175T>G)
12g.55698457A>GCA385190180ITGA7c.*776-34T>C (n.*776-34T>C)
c.644T>C (p.Leu215Pro)
c.1130T>C (p.Leu377Pro)
c.*829T>C (n.*829T>C)
c.998T>C (p.Leu333Pro)
c.15T>C
c.1118T>C (p.Leu373Pro)
c.839T>C (p.Leu280Pro)
c.1250T>C (p.Leu417Pro)
c.272+253T>C (n.272+253T>C)
c.911T>C (p.Leu304Pro)
c.779T>C (p.Leu260Pro)
c.776T>C (p.Leu259Pro)
c.860T>C (p.Leu287Pro)
c.791T>C (p.Leu264Pro)
c.-175T>C (n.-175T>C)
12g.55698457A>TCA385190182ITGA7c.*776-34T>A (n.*776-34T>A)
c.644T>A (p.Leu215His)
c.1130T>A (p.Leu377His)
c.*829T>A (n.*829T>A)
c.998T>A (p.Leu333His)
c.15T>A
c.1118T>A (p.Leu373His)
c.839T>A (p.Leu280His)
c.1250T>A (p.Leu417His)
c.272+253T>A (n.272+253T>A)
c.911T>A (p.Leu304His)
c.779T>A (p.Leu260His)
c.776T>A (p.Leu259His)
c.860T>A (p.Leu287His)
c.791T>A (p.Leu264His)
c.-175T>A (n.-175T>A)
12g.55698458G>ACA385190184ITGA7c.*776-35C>T (n.*776-35C>T)
c.643C>T (p.Leu215Phe)
c.1129C>T (p.Leu377Phe)
c.*828C>T (n.*828C>T)
c.997C>T (p.Leu333Phe)
c.14C>T
c.1117C>T (p.Leu373Phe)
c.838C>T (p.Leu280Phe)
c.1249C>T (p.Leu417Phe)
c.272+252C>T (n.272+252C>T)
c.910C>T (p.Leu304Phe)
c.778C>T (p.Leu260Phe)
c.775C>T (p.Leu259Phe)
c.859C>T (p.Leu287Phe)
c.790C>T (p.Leu264Phe)
c.-176C>T (n.-176C>T)
 dbSNP
12g.55698458G>CCA385190186ITGA7c.*776-35C>G (n.*776-35C>G)
c.643C>G (p.Leu215Val)
c.1129C>G (p.Leu377Val)
c.*828C>G (n.*828C>G)
c.997C>G (p.Leu333Val)
c.14C>G
c.1117C>G (p.Leu373Val)
c.838C>G (p.Leu280Val)
c.1249C>G (p.Leu417Val)
c.272+252C>G (n.272+252C>G)
c.910C>G (p.Leu304Val)
c.778C>G (p.Leu260Val)
c.775C>G (p.Leu259Val)
c.859C>G (p.Leu287Val)
c.790C>G (p.Leu264Val)
c.-176C>G (n.-176C>G)
12g.55698458G=CA2038044542ITGA7c.*776-35C= (n.*776-35C=)
c.643C= (p.Leu215=)
c.1129C= (p.Leu377=)
c.*828C= (n.*828C=)
c.997C= (p.Leu333=)
c.14C=
c.1117C= (p.Leu373=)
c.838C= (p.Leu280=)
c.1249C= (p.Leu417=)
c.272+252C= (n.272+252C=)
c.910C= (p.Leu304=)
c.778C= (p.Leu260=)
c.775C= (p.Leu259=)
c.859C= (p.Leu287=)
c.790C= (p.Leu264=)
c.-176C= (n.-176C=)
12g.55698458G>TCA385190187ITGA7c.*776-35C>A (n.*776-35C>A)
c.643C>A (p.Leu215Ile)
c.1129C>A (p.Leu377Ile)
c.*828C>A (n.*828C>A)
c.997C>A (p.Leu333Ile)
c.14C>A
c.1117C>A (p.Leu373Ile)
c.838C>A (p.Leu280Ile)
c.1249C>A (p.Leu417Ile)
c.272+252C>A (n.272+252C>A)
c.910C>A (p.Leu304Ile)
c.778C>A (p.Leu260Ile)
c.775C>A (p.Leu259Ile)
c.859C>A (p.Leu287Ile)
c.790C>A (p.Leu264Ile)
c.-176C>A (n.-176C>A)
12g.55698459C>ACA480149516ITGA7c.*776-36G>T (n.*776-36G>T)
c.642G>T (p.Arg214=)
c.1128G>T (p.Arg376=)
c.*827G>T (n.*827G>T)
c.996G>T (p.Arg332=)
c.13G>T
c.1116G>T (p.Arg372=)
c.837G>T (p.Arg279=)
c.1248G>T (p.Arg416=)
c.272+251G>T (n.272+251G>T)
c.909G>T (p.Arg303=)
c.777G>T (p.Arg259=)
c.774G>T (p.Arg258=)
c.858G>T (p.Arg286=)
c.789G>T (p.Arg263=)
c.-177G>T (n.-177G>T)
 ClinVar
12g.55698459C=CA2038044548ITGA7c.*776-36G= (n.*776-36G=)
c.642G= (p.Arg214=)
c.1128G= (p.Arg376=)
c.*827G= (n.*827G=)
c.996G= (p.Arg332=)
c.13G=
c.1116G= (p.Arg372=)
c.837G= (p.Arg279=)
c.1248G= (p.Arg416=)
c.272+251G= (n.272+251G=)
c.909G= (p.Arg303=)
c.777G= (p.Arg259=)
c.774G= (p.Arg258=)
c.858G= (p.Arg286=)
c.789G= (p.Arg263=)
c.-177G= (n.-177G=)
12g.55698459C>GCA480149517ITGA7c.*776-36G>C (n.*776-36G>C)
c.642G>C (p.Arg214=)
c.1128G>C (p.Arg376=)
c.*827G>C (n.*827G>C)
c.996G>C (p.Arg332=)
c.13G>C
c.1116G>C (p.Arg372=)
c.837G>C (p.Arg279=)
c.1248G>C (p.Arg416=)
c.272+251G>C (n.272+251G>C)
c.909G>C (p.Arg303=)
c.777G>C (p.Arg259=)
c.774G>C (p.Arg258=)
c.858G>C (p.Arg286=)
c.789G>C (p.Arg263=)
c.-177G>C (n.-177G>C)
12g.55698459C>TCA480149518ITGA7c.*776-36G>A (n.*776-36G>A)
c.642G>A (p.Arg214=)
c.1128G>A (p.Arg376=)
c.*827G>A (n.*827G>A)
c.996G>A (p.Arg332=)
c.13G>A
c.1116G>A (p.Arg372=)
c.837G>A (p.Arg279=)
c.1248G>A (p.Arg416=)
c.272+251G>A (n.272+251G>A)
c.909G>A (p.Arg303=)
c.777G>A (p.Arg259=)
c.774G>A (p.Arg258=)
c.858G>A (p.Arg286=)
c.789G>A (p.Arg263=)
c.-177G>A (n.-177G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55698460C>ACA385190189ITGA7c.*776-37G>T (n.*776-37G>T)
c.641G>T (p.Arg214Leu)
c.1127G>T (p.Arg376Leu)
c.*826G>T (n.*826G>T)
c.995G>T (p.Arg332Leu)
c.12G>T
c.1115G>T (p.Arg372Leu)
c.836G>T (p.Arg279Leu)
c.1247G>T (p.Arg416Leu)
c.272+250G>T (n.272+250G>T)
c.908G>T (p.Arg303Leu)
c.776G>T (p.Arg259Leu)
c.773G>T (p.Arg258Leu)
c.857G>T (p.Arg286Leu)
c.788G>T (p.Arg263Leu)
c.-178G>T (n.-178G>T)
 COSMIC COSMIC
12g.55698460C=CA2038044554ITGA7c.*776-37G= (n.*776-37G=)
c.641G= (p.Arg214=)
c.1127G= (p.Arg376=)
c.*826G= (n.*826G=)
c.995G= (p.Arg332=)
c.12G=
c.1115G= (p.Arg372=)
c.836G= (p.Arg279=)
c.1247G= (p.Arg416=)
c.272+250G= (n.272+250G=)
c.908G= (p.Arg303=)
c.776G= (p.Arg259=)
c.773G= (p.Arg258=)
c.857G= (p.Arg286=)
c.788G= (p.Arg263=)
c.-178G= (n.-178G=)
12g.55698460C>GCA385190195ITGA7c.*776-37G>C (n.*776-37G>C)
c.641G>C (p.Arg214Pro)
c.1127G>C (p.Arg376Pro)
c.*826G>C (n.*826G>C)
c.995G>C (p.Arg332Pro)
c.12G>C
c.1115G>C (p.Arg372Pro)
c.836G>C (p.Arg279Pro)
c.1247G>C (p.Arg416Pro)
c.272+250G>C (n.272+250G>C)
c.908G>C (p.Arg303Pro)
c.776G>C (p.Arg259Pro)
c.773G>C (p.Arg258Pro)
c.857G>C (p.Arg286Pro)
c.788G>C (p.Arg263Pro)
c.-178G>C (n.-178G>C)
12g.55698460C>TCA385190191ITGA7c.*776-37G>A (n.*776-37G>A)
c.641G>A (p.Arg214Gln)
c.1127G>A (p.Arg376Gln)
c.*826G>A (n.*826G>A)
c.995G>A (p.Arg332Gln)
c.12G>A
c.1115G>A (p.Arg372Gln)
c.836G>A (p.Arg279Gln)
c.1247G>A (p.Arg416Gln)
c.272+250G>A (n.272+250G>A)
c.908G>A (p.Arg303Gln)
c.776G>A (p.Arg259Gln)
c.773G>A (p.Arg258Gln)
c.857G>A (p.Arg286Gln)
c.788G>A (p.Arg263Gln)
c.-178G>A (n.-178G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.55698461G>ACA6616056ITGA7c.*776-38C>T (n.*776-38C>T)
c.640C>T (p.Arg214Trp)
c.1126C>T (p.Arg376Trp)
c.*825C>T (n.*825C>T)
c.994C>T (p.Arg332Trp)
c.11C>T
c.1114C>T (p.Arg372Trp)
c.835C>T (p.Arg279Trp)
c.1246C>T (p.Arg416Trp)
c.272+249C>T (n.272+249C>T)
c.907C>T (p.Arg303Trp)
c.775C>T (p.Arg259Trp)
c.772C>T (p.Arg258Trp)
c.856C>T (p.Arg286Trp)
c.787C>T (p.Arg263Trp)
c.-179C>T (n.-179C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698461G>CCA6616055ITGA7c.*776-38C>G (n.*776-38C>G)
c.640C>G (p.Arg214Gly)
c.1126C>G (p.Arg376Gly)
c.*825C>G (n.*825C>G)
c.994C>G (p.Arg332Gly)
c.11C>G
c.1114C>G (p.Arg372Gly)
c.835C>G (p.Arg279Gly)
c.1246C>G (p.Arg416Gly)
c.272+249C>G (n.272+249C>G)
c.907C>G (p.Arg303Gly)
c.775C>G (p.Arg259Gly)
c.772C>G (p.Arg258Gly)
c.856C>G (p.Arg286Gly)
c.787C>G (p.Arg263Gly)
c.-179C>G (n.-179C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698461G=CA2038044562ITGA7c.*776-38C= (n.*776-38C=)
c.640C= (p.Arg214=)
c.1126C= (p.Arg376=)
c.*825C= (n.*825C=)
c.994C= (p.Arg332=)
c.11C=
c.1114C= (p.Arg372=)
c.835C= (p.Arg279=)
c.1246C= (p.Arg416=)
c.272+249C= (n.272+249C=)
c.907C= (p.Arg303=)
c.775C= (p.Arg259=)
c.772C= (p.Arg258=)
c.856C= (p.Arg286=)
c.787C= (p.Arg263=)
c.-179C= (n.-179C=)
12g.55698461G>TCA480149521ITGA7c.*776-38C>A (n.*776-38C>A)
c.640C>A (p.Arg214=)
c.1126C>A (p.Arg376=)
c.*825C>A (n.*825C>A)
c.994C>A (p.Arg332=)
c.11C>A
c.1114C>A (p.Arg372=)
c.835C>A (p.Arg279=)
c.1246C>A (p.Arg416=)
c.272+249C>A (n.272+249C>A)
c.907C>A (p.Arg303=)
c.775C>A (p.Arg259=)
c.772C>A (p.Arg258=)
c.856C>A (p.Arg286=)
c.787C>A (p.Arg263=)
c.-179C>A (n.-179C>A)
12g.55698462G>ACA480149523ITGA7c.*776-39C>T (n.*776-39C>T)
c.639C>T (p.Leu213=)
c.1125C>T (p.Leu375=)
c.*824C>T (n.*824C>T)
c.993C>T (p.Leu331=)
c.10C>T
c.1113C>T (p.Leu371=)
c.834C>T (p.Leu278=)
c.1245C>T (p.Leu415=)
c.272+248C>T (n.272+248C>T)
c.906C>T (p.Leu302=)
c.774C>T (p.Leu258=)
c.771C>T (p.Leu257=)
c.855C>T (p.Leu285=)
c.786C>T (p.Leu262=)
c.-180C>T (n.-180C>T)
 dbSNP gnomAD v4
12g.55698462G>CCA480149524ITGA7c.*776-39C>G (n.*776-39C>G)
c.639C>G (p.Leu213=)
c.1125C>G (p.Leu375=)
c.*824C>G (n.*824C>G)
c.993C>G (p.Leu331=)
c.10C>G
c.1113C>G (p.Leu371=)
c.834C>G (p.Leu278=)
c.1245C>G (p.Leu415=)
c.272+248C>G (n.272+248C>G)
c.906C>G (p.Leu302=)
c.774C>G (p.Leu258=)
c.771C>G (p.Leu257=)
c.855C>G (p.Leu285=)
c.786C>G (p.Leu262=)
c.-180C>G (n.-180C>G)
 gnomAD v4
12g.55698462G=CA2038044573ITGA7c.*776-39C= (n.*776-39C=)
c.639C= (p.Leu213=)
c.1125C= (p.Leu375=)
c.*824C= (n.*824C=)
c.993C= (p.Leu331=)
c.10C=
c.1113C= (p.Leu371=)
c.834C= (p.Leu278=)
c.1245C= (p.Leu415=)
c.272+248C= (n.272+248C=)
c.906C= (p.Leu302=)
c.774C= (p.Leu258=)
c.771C= (p.Leu257=)
c.855C= (p.Leu285=)
c.786C= (p.Leu262=)
c.-180C= (n.-180C=)
12g.55698462G>TCA480149525ITGA7c.*776-39C>A (n.*776-39C>A)
c.639C>A (p.Leu213=)
c.1125C>A (p.Leu375=)
c.*824C>A (n.*824C>A)
c.993C>A (p.Leu331=)
c.10C>A
c.1113C>A (p.Leu371=)
c.834C>A (p.Leu278=)
c.1245C>A (p.Leu415=)
c.272+248C>A (n.272+248C>A)
c.906C>A (p.Leu302=)
c.774C>A (p.Leu258=)
c.771C>A (p.Leu257=)
c.855C>A (p.Leu285=)
c.786C>A (p.Leu262=)
c.-180C>A (n.-180C>A)
12g.55698463A>CCA385190199ITGA7c.*776-40T>G (n.*776-40T>G)
c.638T>G (p.Leu213Arg)
c.1124T>G (p.Leu375Arg)
c.*823T>G (n.*823T>G)
c.992T>G (p.Leu331Arg)
c.9T>G
c.1112T>G (p.Leu371Arg)
c.833T>G (p.Leu278Arg)
c.1244T>G (p.Leu415Arg)
c.272+247T>G (n.272+247T>G)
c.905T>G (p.Leu302Arg)
c.773T>G (p.Leu258Arg)
c.770T>G (p.Leu257Arg)
c.854T>G (p.Leu285Arg)
c.785T>G (p.Leu262Arg)
c.-181T>G (n.-181T>G)
12g.55698463A>GCA385190200ITGA7c.*776-40T>C (n.*776-40T>C)
c.638T>C (p.Leu213Pro)
c.1124T>C (p.Leu375Pro)
c.*823T>C (n.*823T>C)
c.992T>C (p.Leu331Pro)
c.9T>C
c.1112T>C (p.Leu371Pro)
c.833T>C (p.Leu278Pro)
c.1244T>C (p.Leu415Pro)
c.272+247T>C (n.272+247T>C)
c.905T>C (p.Leu302Pro)
c.773T>C (p.Leu258Pro)
c.770T>C (p.Leu257Pro)
c.854T>C (p.Leu285Pro)
c.785T>C (p.Leu262Pro)
c.-181T>C (n.-181T>C)
12g.55698463A>TCA385190202ITGA7c.*776-40T>A (n.*776-40T>A)
c.638T>A (p.Leu213His)
c.1124T>A (p.Leu375His)
c.*823T>A (n.*823T>A)
c.992T>A (p.Leu331His)
c.9T>A
c.1112T>A (p.Leu371His)
c.833T>A (p.Leu278His)
c.1244T>A (p.Leu415His)
c.272+247T>A (n.272+247T>A)
c.905T>A (p.Leu302His)
c.773T>A (p.Leu258His)
c.770T>A (p.Leu257His)
c.854T>A (p.Leu285His)
c.785T>A (p.Leu262His)
c.-181T>A (n.-181T>A)
12g.55698464G>ACA385190204ITGA7c.*776-41C>T (n.*776-41C>T)
c.637C>T (p.Leu213Phe)
c.1123C>T (p.Leu375Phe)
c.*822C>T (n.*822C>T)
c.991C>T (p.Leu331Phe)
c.8C>T
c.1111C>T (p.Leu371Phe)
c.832C>T (p.Leu278Phe)
c.1243C>T (p.Leu415Phe)
c.272+246C>T (n.272+246C>T)
c.904C>T (p.Leu302Phe)
c.772C>T (p.Leu258Phe)
c.769C>T (p.Leu257Phe)
c.853C>T (p.Leu285Phe)
c.784C>T (p.Leu262Phe)
c.-182C>T (n.-182C>T)
12g.55698464G>CCA6616057ITGA7c.*776-41C>G (n.*776-41C>G)
c.637C>G (p.Leu213Val)
c.1123C>G (p.Leu375Val)
c.*822C>G (n.*822C>G)
c.991C>G (p.Leu331Val)
c.8C>G
c.1111C>G (p.Leu371Val)
c.832C>G (p.Leu278Val)
c.1243C>G (p.Leu415Val)
c.272+246C>G (n.272+246C>G)
c.904C>G (p.Leu302Val)
c.772C>G (p.Leu258Val)
c.769C>G (p.Leu257Val)
c.853C>G (p.Leu285Val)
c.784C>G (p.Leu262Val)
c.-182C>G (n.-182C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698464G=CA2038044576ITGA7c.*776-41C= (n.*776-41C=)
c.637C= (p.Leu213=)
c.1123C= (p.Leu375=)
c.*822C= (n.*822C=)
c.991C= (p.Leu331=)
c.8C=
c.1111C= (p.Leu371=)
c.832C= (p.Leu278=)
c.1243C= (p.Leu415=)
c.272+246C= (n.272+246C=)
c.904C= (p.Leu302=)
c.772C= (p.Leu258=)
c.769C= (p.Leu257=)
c.853C= (p.Leu285=)
c.784C= (p.Leu262=)
c.-182C= (n.-182C=)
12g.55698464G>TCA385190207ITGA7c.*776-41C>A (n.*776-41C>A)
c.637C>A (p.Leu213Ile)
c.1123C>A (p.Leu375Ile)
c.*822C>A (n.*822C>A)
c.991C>A (p.Leu331Ile)
c.8C>A
c.1111C>A (p.Leu371Ile)
c.832C>A (p.Leu278Ile)
c.1243C>A (p.Leu415Ile)
c.272+246C>A (n.272+246C>A)
c.904C>A (p.Leu302Ile)
c.772C>A (p.Leu258Ile)
c.769C>A (p.Leu257Ile)
c.853C>A (p.Leu285Ile)
c.784C>A (p.Leu262Ile)
c.-182C>A (n.-182C>A)
12g.55698465A=CA2038044585ITGA7c.*776-42T= (n.*776-42T=)
c.636T= (p.Pro212=)
c.1122T= (p.Pro374=)
c.*821T= (n.*821T=)
c.990T= (p.Pro330=)
c.7T=
c.1110T= (p.Pro370=)
c.831T= (p.Pro277=)
c.1242T= (p.Pro414=)
c.272+245T= (n.272+245T=)
c.903T= (p.Pro301=)
c.771T= (p.Pro257=)
c.768T= (p.Pro256=)
c.852T= (p.Pro284=)
c.783T= (p.Pro261=)
c.-183T= (n.-183T=)
12g.55698465A>CCA6616058ITGA7c.*776-42T>G (n.*776-42T>G)
c.636T>G (p.Pro212=)
c.1122T>G (p.Pro374=)
c.*821T>G (n.*821T>G)
c.990T>G (p.Pro330=)
c.7T>G
c.1110T>G (p.Pro370=)
c.831T>G (p.Pro277=)
c.1242T>G (p.Pro414=)
c.272+245T>G (n.272+245T>G)
c.903T>G (p.Pro301=)
c.771T>G (p.Pro257=)
c.768T>G (p.Pro256=)
c.852T>G (p.Pro284=)
c.783T>G (p.Pro261=)
c.-183T>G (n.-183T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55698465A>GCA480149530ITGA7c.*776-42T>C (n.*776-42T>C)
c.636T>C (p.Pro212=)
c.1122T>C (p.Pro374=)
c.*821T>C (n.*821T>C)
c.990T>C (p.Pro330=)
c.7T>C
c.1110T>C (p.Pro370=)
c.831T>C (p.Pro277=)
c.1242T>C (p.Pro414=)
c.272+245T>C (n.272+245T>C)
c.903T>C (p.Pro301=)
c.771T>C (p.Pro257=)
c.768T>C (p.Pro256=)
c.852T>C (p.Pro284=)
c.783T>C (p.Pro261=)
c.-183T>C (n.-183T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55698465A>TCA480149531ITGA7c.*776-42T>A (n.*776-42T>A)
c.636T>A (p.Pro212=)
c.1122T>A (p.Pro374=)
c.*821T>A (n.*821T>A)
c.990T>A (p.Pro330=)
c.7T>A
c.1110T>A (p.Pro370=)
c.831T>A (p.Pro277=)
c.1242T>A (p.Pro414=)
c.272+245T>A (n.272+245T>A)
c.903T>A (p.Pro301=)
c.771T>A (p.Pro257=)
c.768T>A (p.Pro256=)
c.852T>A (p.Pro284=)
c.783T>A (p.Pro261=)
c.-183T>A (n.-183T>A)
12g.55698466G>ACA385190210ITGA7c.*776-43C>T (n.*776-43C>T)
c.635C>T (p.Pro212Leu)
c.1121C>T (p.Pro374Leu)
c.*820C>T (n.*820C>T)
c.989C>T (p.Pro330Leu)
c.6C>T
c.1109C>T (p.Pro370Leu)
c.830C>T (p.Pro277Leu)
c.1241C>T (p.Pro414Leu)
c.272+244C>T (n.272+244C>T)
c.902C>T (p.Pro301Leu)
c.770C>T (p.Pro257Leu)
c.767C>T (p.Pro256Leu)
c.851C>T (p.Pro284Leu)
c.782C>T (p.Pro261Leu)
c.-184C>T (n.-184C>T)
 gnomAD v4
12g.55698466G>CCA385190211ITGA7c.*776-43C>G (n.*776-43C>G)
c.635C>G (p.Pro212Arg)
c.1121C>G (p.Pro374Arg)
c.*820C>G (n.*820C>G)
c.989C>G (p.Pro330Arg)
c.6C>G
c.1109C>G (p.Pro370Arg)
c.830C>G (p.Pro277Arg)
c.1241C>G (p.Pro414Arg)
c.272+244C>G (n.272+244C>G)
c.902C>G (p.Pro301Arg)
c.770C>G (p.Pro257Arg)
c.767C>G (p.Pro256Arg)
c.851C>G (p.Pro284Arg)
c.782C>G (p.Pro261Arg)
c.-184C>G (n.-184C>G)
12g.55698466G>TCA385190212ITGA7c.*776-43C>A (n.*776-43C>A)
c.635C>A (p.Pro212His)
c.1121C>A (p.Pro374His)
c.*820C>A (n.*820C>A)
c.989C>A (p.Pro330His)
c.6C>A
c.1109C>A (p.Pro370His)
c.830C>A (p.Pro277His)
c.1241C>A (p.Pro414His)
c.272+244C>A (n.272+244C>A)
c.902C>A (p.Pro301His)
c.770C>A (p.Pro257His)
c.767C>A (p.Pro256His)
c.851C>A (p.Pro284His)
c.782C>A (p.Pro261His)
c.-184C>A (n.-184C>A)
12g.55698467G>ACA237574868ITGA7c.*776-44C>T (n.*776-44C>T)
c.634C>T (p.Pro212Ser)
c.1120C>T (p.Pro374Ser)
c.*819C>T (n.*819C>T)
c.988C>T (p.Pro330Ser)
c.5C>T
c.1108C>T (p.Pro370Ser)
c.829C>T (p.Pro277Ser)
c.1240C>T (p.Pro414Ser)
c.272+243C>T (n.272+243C>T)
c.901C>T (p.Pro301Ser)
c.769C>T (p.Pro257Ser)
c.766C>T (p.Pro256Ser)
c.850C>T (p.Pro284Ser)
c.781C>T (p.Pro261Ser)
c.-185C>T (n.-185C>T)
 dbSNP COSMIC COSMIC COSMIC COSMIC
12g.55698467G>CCA385190215ITGA7c.*776-44C>G (n.*776-44C>G)
c.634C>G (p.Pro212Ala)
c.1120C>G (p.Pro374Ala)
c.*819C>G (n.*819C>G)
c.988C>G (p.Pro330Ala)
c.5C>G
c.1108C>G (p.Pro370Ala)
c.829C>G (p.Pro277Ala)
c.1240C>G (p.Pro414Ala)
c.272+243C>G (n.272+243C>G)
c.901C>G (p.Pro301Ala)
c.769C>G (p.Pro257Ala)
c.766C>G (p.Pro256Ala)
c.850C>G (p.Pro284Ala)
c.781C>G (p.Pro261Ala)
c.-185C>G (n.-185C>G)
12g.55698467G=CA2038044591ITGA7c.*776-44C= (n.*776-44C=)
c.634C= (p.Pro212=)
c.1120C= (p.Pro374=)
c.*819C= (n.*819C=)
c.988C= (p.Pro330=)
c.5C=
c.1108C= (p.Pro370=)
c.829C= (p.Pro277=)
c.1240C= (p.Pro414=)
c.272+243C= (n.272+243C=)
c.901C= (p.Pro301=)
c.769C= (p.Pro257=)
c.766C= (p.Pro256=)
c.850C= (p.Pro284=)
c.781C= (p.Pro261=)
c.-185C= (n.-185C=)
12g.55698467G>TCA385190214ITGA7c.*776-44C>A (n.*776-44C>A)
c.634C>A (p.Pro212Thr)
c.1120C>A (p.Pro374Thr)
c.*819C>A (n.*819C>A)
c.988C>A (p.Pro330Thr)
c.5C>A
c.1108C>A (p.Pro370Thr)
c.829C>A (p.Pro277Thr)
c.1240C>A (p.Pro414Thr)
c.272+243C>A (n.272+243C>A)
c.901C>A (p.Pro301Thr)
c.769C>A (p.Pro257Thr)
c.766C>A (p.Pro256Thr)
c.850C>A (p.Pro284Thr)
c.781C>A (p.Pro261Thr)
c.-185C>A (n.-185C>A)
12g.55698468G>ACA6616059ITGA7c.*775+43C>T (n.*775+43C>T)
c.633C>T (p.Ser211=)
c.1119C>T (p.Ser373=)
c.*818C>T (n.*818C>T)
c.987C>T (p.Ser329=)
c.4C>T
c.1107C>T (p.Ser369=)
c.828C>T (p.Ser276=)
c.1239C>T (p.Ser413=)
c.272+242C>T (n.272+242C>T)
c.900C>T (p.Ser300=)
c.768C>T (p.Ser256=)
c.765C>T (p.Ser255=)
c.849C>T (p.Ser283=)
c.780C>T (p.Ser260=)
c.-186C>T (n.-186C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698468G>CCA480149534ITGA7c.*775+43C>G (n.*775+43C>G)
c.633C>G (p.Ser211=)
c.1119C>G (p.Ser373=)
c.*818C>G (n.*818C>G)
c.987C>G (p.Ser329=)
c.4C>G
c.1107C>G (p.Ser369=)
c.828C>G (p.Ser276=)
c.1239C>G (p.Ser413=)
c.272+242C>G (n.272+242C>G)
c.900C>G (p.Ser300=)
c.768C>G (p.Ser256=)
c.765C>G (p.Ser255=)
c.849C>G (p.Ser283=)
c.780C>G (p.Ser260=)
c.-186C>G (n.-186C>G)
12g.55698468G=CA2038044597ITGA7c.*775+43C= (n.*775+43C=)
c.633C= (p.Ser211=)
c.1119C= (p.Ser373=)
c.*818C= (n.*818C=)
c.987C= (p.Ser329=)
c.4C=
c.1107C= (p.Ser369=)
c.828C= (p.Ser276=)
c.1239C= (p.Ser413=)
c.272+242C= (n.272+242C=)
c.900C= (p.Ser300=)
c.768C= (p.Ser256=)
c.765C= (p.Ser255=)
c.849C= (p.Ser283=)
c.780C= (p.Ser260=)
c.-186C= (n.-186C=)
12g.55698468G>TCA480149535ITGA7c.*775+43C>A (n.*775+43C>A)
c.633C>A (p.Ser211=)
c.1119C>A (p.Ser373=)
c.*818C>A (n.*818C>A)
c.987C>A (p.Ser329=)
c.4C>A
c.1107C>A (p.Ser369=)
c.828C>A (p.Ser276=)
c.1239C>A (p.Ser413=)
c.272+242C>A (n.272+242C>A)
c.900C>A (p.Ser300=)
c.768C>A (p.Ser256=)
c.765C>A (p.Ser255=)
c.849C>A (p.Ser283=)
c.780C>A (p.Ser260=)
c.-186C>A (n.-186C>A)
12g.55698469G>ACA385190217ITGA7c.*775+42C>T (n.*775+42C>T)
c.632C>T (p.Ser211Phe)
c.1118C>T (p.Ser373Phe)
c.*817C>T (n.*817C>T)
c.986C>T (p.Ser329Phe)
c.3C>T
c.1106C>T (p.Ser369Phe)
c.827C>T (p.Ser276Phe)
c.1238C>T (p.Ser413Phe)
c.272+241C>T (n.272+241C>T)
c.899C>T (p.Ser300Phe)
c.767C>T (p.Ser256Phe)
c.764C>T (p.Ser255Phe)
c.848C>T (p.Ser283Phe)
c.779C>T (p.Ser260Phe)
c.-187C>T (n.-187C>T)
12g.55698469G>CCA385190219ITGA7c.*775+42C>G (n.*775+42C>G)
c.632C>G (p.Ser211Cys)
c.1118C>G (p.Ser373Cys)
c.*817C>G (n.*817C>G)
c.986C>G (p.Ser329Cys)
c.3C>G
c.1106C>G (p.Ser369Cys)
c.827C>G (p.Ser276Cys)
c.1238C>G (p.Ser413Cys)
c.272+241C>G (n.272+241C>G)
c.899C>G (p.Ser300Cys)
c.767C>G (p.Ser256Cys)
c.764C>G (p.Ser255Cys)
c.848C>G (p.Ser283Cys)
c.779C>G (p.Ser260Cys)
c.-187C>G (n.-187C>G)
12g.55698469G=CA2038044604ITGA7c.*775+42C= (n.*775+42C=)
c.632C= (p.Ser211=)
c.1118C= (p.Ser373=)
c.*817C= (n.*817C=)
c.986C= (p.Ser329=)
c.3C=
c.1106C= (p.Ser369=)
c.827C= (p.Ser276=)
c.1238C= (p.Ser413=)
c.272+241C= (n.272+241C=)
c.899C= (p.Ser300=)
c.767C= (p.Ser256=)
c.764C= (p.Ser255=)
c.848C= (p.Ser283=)
c.779C= (p.Ser260=)
c.-187C= (n.-187C=)
12g.55698469G>TCA6616060ITGA7c.*775+42C>A (n.*775+42C>A)
c.632C>A (p.Ser211Tyr)
c.1118C>A (p.Ser373Tyr)
c.*817C>A (n.*817C>A)
c.986C>A (p.Ser329Tyr)
c.3C>A
c.1106C>A (p.Ser369Tyr)
c.827C>A (p.Ser276Tyr)
c.1238C>A (p.Ser413Tyr)
c.272+241C>A (n.272+241C>A)
c.899C>A (p.Ser300Tyr)
c.767C>A (p.Ser256Tyr)
c.764C>A (p.Ser255Tyr)
c.848C>A (p.Ser283Tyr)
c.779C>A (p.Ser260Tyr)
c.-187C>A (n.-187C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55698470A>CCA385190220ITGA7c.*775+41T>G (n.*775+41T>G)
c.631T>G (p.Ser211Ala)
c.1117T>G (p.Ser373Ala)
c.*816T>G (n.*816T>G)
c.985T>G (p.Ser329Ala)
c.2T>G
c.1105T>G (p.Ser369Ala)
c.826T>G (p.Ser276Ala)
c.1237T>G (p.Ser413Ala)
c.272+240T>G (n.272+240T>G)
c.898T>G (p.Ser300Ala)
c.766T>G (p.Ser256Ala)
c.763T>G (p.Ser255Ala)
c.847T>G (p.Ser283Ala)
c.778T>G (p.Ser260Ala)
c.-188T>G (n.-188T>G)
12g.55698470A>GCA385190221ITGA7c.*775+41T>C (n.*775+41T>C)
c.631T>C (p.Ser211Pro)
c.1117T>C (p.Ser373Pro)
c.*816T>C (n.*816T>C)
c.985T>C (p.Ser329Pro)
c.2T>C
c.1105T>C (p.Ser369Pro)
c.826T>C (p.Ser276Pro)
c.1237T>C (p.Ser413Pro)
c.272+240T>C (n.272+240T>C)
c.898T>C (p.Ser300Pro)
c.766T>C (p.Ser256Pro)
c.763T>C (p.Ser255Pro)
c.847T>C (p.Ser283Pro)
c.778T>C (p.Ser260Pro)
c.-188T>C (n.-188T>C)
12g.55698470A>TCA385190223ITGA7c.*775+41T>A (n.*775+41T>A)
c.631T>A (p.Ser211Thr)
c.1117T>A (p.Ser373Thr)
c.*816T>A (n.*816T>A)
c.985T>A (p.Ser329Thr)
c.2T>A
c.1105T>A (p.Ser369Thr)
c.826T>A (p.Ser276Thr)
c.1237T>A (p.Ser413Thr)
c.272+240T>A (n.272+240T>A)
c.898T>A (p.Ser300Thr)
c.766T>A (p.Ser256Thr)
c.763T>A (p.Ser255Thr)
c.847T>A (p.Ser283Thr)
c.778T>A (p.Ser260Thr)
c.-188T>A (n.-188T>A)
12g.55698471G>ACA6616061ITGA7c.*775+40C>T (n.*775+40C>T)
c.630C>T (p.Ile210=)
c.1116C>T (p.Ile372=)
c.*815C>T (n.*815C>T)
c.984C>T (p.Ile328=)
c.1C>T
c.1104C>T (p.Ile368=)
c.825C>T (p.Ile275=)
c.1236C>T (p.Ile412=)
c.272+239C>T (n.272+239C>T)
c.897C>T (p.Ile299=)
c.765C>T (p.Ile255=)
c.762C>T (p.Ile254=)
c.846C>T (p.Ile282=)
c.777C>T (p.Ile259=)
c.-189C>T (n.-189C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698471G>CCA385190224ITGA7c.*775+40C>G (n.*775+40C>G)
c.630C>G (p.Ile210Met)
c.1116C>G (p.Ile372Met)
c.*815C>G (n.*815C>G)
c.984C>G (p.Ile328Met)
c.1C>G
c.1104C>G (p.Ile368Met)
c.825C>G (p.Ile275Met)
c.1236C>G (p.Ile412Met)
c.272+239C>G (n.272+239C>G)
c.897C>G (p.Ile299Met)
c.765C>G (p.Ile255Met)
c.762C>G (p.Ile254Met)
c.846C>G (p.Ile282Met)
c.777C>G (p.Ile259Met)
c.-189C>G (n.-189C>G)
12g.55698471G=CA2038044611ITGA7c.*775+40C= (n.*775+40C=)
c.630C= (p.Ile210=)
c.1116C= (p.Ile372=)
c.*815C= (n.*815C=)
c.984C= (p.Ile328=)
c.1C=
c.1104C= (p.Ile368=)
c.825C= (p.Ile275=)
c.1236C= (p.Ile412=)
c.272+239C= (n.272+239C=)
c.897C= (p.Ile299=)
c.765C= (p.Ile255=)
c.762C= (p.Ile254=)
c.846C= (p.Ile282=)
c.777C= (p.Ile259=)
c.-189C= (n.-189C=)
12g.55698471G>TCA480149536ITGA7c.*775+40C>A (n.*775+40C>A)
c.630C>A (p.Ile210=)
c.1116C>A (p.Ile372=)
c.*815C>A (n.*815C>A)
c.984C>A (p.Ile328=)
c.1C>A
c.1104C>A (p.Ile368=)
c.825C>A (p.Ile275=)
c.1236C>A (p.Ile412=)
c.272+239C>A (n.272+239C>A)
c.897C>A (p.Ile299=)
c.765C>A (p.Ile255=)
c.762C>A (p.Ile254=)
c.846C>A (p.Ile282=)
c.777C>A (p.Ile259=)
c.-189C>A (n.-189C>A)
12g.55698472A>CCA385190225ITGA7c.*775+39T>G (n.*775+39T>G)
c.629T>G (p.Ile210Ser)
c.1115T>G (p.Ile372Ser)
c.*814T>G (n.*814T>G)
c.983T>G (p.Ile328Ser)
c.1103T>G (p.Ile368Ser)
c.824T>G (p.Ile275Ser)
c.1235T>G (p.Ile412Ser)
c.272+238T>G (n.272+238T>G)
c.896T>G (p.Ile299Ser)
c.764T>G (p.Ile255Ser)
c.761T>G (p.Ile254Ser)
c.845T>G (p.Ile282Ser)
c.776T>G (p.Ile259Ser)
c.-190T>G (n.-190T>G)
12g.55698472A>GCA385190226ITGA7c.*775+39T>C (n.*775+39T>C)
c.629T>C (p.Ile210Thr)
c.1115T>C (p.Ile372Thr)
c.*814T>C (n.*814T>C)
c.983T>C (p.Ile328Thr)
c.1103T>C (p.Ile368Thr)
c.824T>C (p.Ile275Thr)
c.1235T>C (p.Ile412Thr)
c.272+238T>C (n.272+238T>C)
c.896T>C (p.Ile299Thr)
c.764T>C (p.Ile255Thr)
c.761T>C (p.Ile254Thr)
c.845T>C (p.Ile282Thr)
c.776T>C (p.Ile259Thr)
c.-190T>C (n.-190T>C)
12g.55698472A>TCA385190227ITGA7c.*775+39T>A (n.*775+39T>A)
c.629T>A (p.Ile210Asn)
c.1115T>A (p.Ile372Asn)
c.*814T>A (n.*814T>A)
c.983T>A (p.Ile328Asn)
c.1103T>A (p.Ile368Asn)
c.824T>A (p.Ile275Asn)
c.1235T>A (p.Ile412Asn)
c.272+238T>A (n.272+238T>A)
c.896T>A (p.Ile299Asn)
c.764T>A (p.Ile255Asn)
c.761T>A (p.Ile254Asn)
c.845T>A (p.Ile282Asn)
c.776T>A (p.Ile259Asn)
c.-190T>A (n.-190T>A)
12g.55698472_55698485delinsATCCCAGCCCAGTGCA2038044617ITGA7c.*775+26_*775+39delinsCACTGGGCTGGGAT (n.*775+26_*775+39delinsCACTGGGCTGGGAT)
c.616_629delinsCACTGGGCTGGGAT (p.His206=)
c.1102_1115delinsCACTGGGCTGGGAT (p.His368=)
c.*801_*814delinsCACTGGGCTGGGAT (n.*801_*814delinsCACTGGGCTGGGAT)
c.970_983delinsCACTGGGCTGGGAT (p.His324=)
c.1090_1103delinsCACTGGGCTGGGAT (p.His364=)
c.811_824delinsCACTGGGCTGGGAT (p.His271=)
c.1222_1235delinsCACTGGGCTGGGAT (p.His408=)
c.272+225_272+238delinsCACTGGGCTGGGAT (n.272+225_272+238delinsCACTGGGCTGGGAT)
c.883_896delinsCACTGGGCTGGGAT (p.His295=)
c.751_764delinsCACTGGGCTGGGAT (p.His251=)
c.748_761delinsCACTGGGCTGGGAT (p.His250=)
c.832_845delinsCACTGGGCTGGGAT (p.His278=)
c.763_776delinsCACTGGGCTGGGAT (p.His255=)
c.-203_-190delinsCACTGGGCTGGGAT (n.-203_-190delinsCACTGGGCTGGGAT)
12g.55698473T>ACA385190229ITGA7c.*775+38A>T (n.*775+38A>T)
c.628A>T (p.Ile210Phe)
c.1114A>T (p.Ile372Phe)
c.*813A>T (n.*813A>T)
c.982A>T (p.Ile328Phe)
c.1102A>T (p.Ile368Phe)
c.823A>T (p.Ile275Phe)
c.1234A>T (p.Ile412Phe)
c.272+237A>T (n.272+237A>T)
c.895A>T (p.Ile299Phe)
c.763A>T (p.Ile255Phe)
c.760A>T (p.Ile254Phe)
c.844A>T (p.Ile282Phe)
c.775A>T (p.Ile259Phe)
c.-191A>T (n.-191A>T)
12g.55698473T>CCA385190228ITGA7c.*775+38A>G (n.*775+38A>G)
c.628A>G (p.Ile210Val)
c.1114A>G (p.Ile372Val)
c.*813A>G (n.*813A>G)
c.982A>G (p.Ile328Val)
c.1102A>G (p.Ile368Val)
c.823A>G (p.Ile275Val)
c.1234A>G (p.Ile412Val)
c.272+237A>G (n.272+237A>G)
c.895A>G (p.Ile299Val)
c.763A>G (p.Ile255Val)
c.760A>G (p.Ile254Val)
c.844A>G (p.Ile282Val)
c.775A>G (p.Ile259Val)
c.-191A>G (n.-191A>G)
12g.55698473T>GCA6616062ITGA7c.*775+38A>C (n.*775+38A>C)
c.628A>C (p.Ile210Leu)
c.1114A>C (p.Ile372Leu)
c.*813A>C (n.*813A>C)
c.982A>C (p.Ile328Leu)
c.1102A>C (p.Ile368Leu)
c.823A>C (p.Ile275Leu)
c.1234A>C (p.Ile412Leu)
c.272+237A>C (n.272+237A>C)
c.895A>C (p.Ile299Leu)
c.763A>C (p.Ile255Leu)
c.760A>C (p.Ile254Leu)
c.844A>C (p.Ile282Leu)
c.775A>C (p.Ile259Leu)
c.-191A>C (n.-191A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698473T=CA2038044621ITGA7c.*775+38A= (n.*775+38A=)
c.628A= (p.Ile210=)
c.1114A= (p.Ile372=)
c.*813A= (n.*813A=)
c.982A= (p.Ile328=)
c.1102A= (p.Ile368=)
c.823A= (p.Ile275=)
c.1234A= (p.Ile412=)
c.272+237A= (n.272+237A=)
c.895A= (p.Ile299=)
c.763A= (p.Ile255=)
c.760A= (p.Ile254=)
c.844A= (p.Ile282=)
c.775A= (p.Ile259=)
c.-191A= (n.-191A=)
12g.55698473_55698474delinsTCCA2038044622ITGA7c.*775+37_*775+38delinsGA (n.*775+37_*775+38delinsGA)
c.627_628delinsGA (p.Gly209=)
c.1113_1114delinsGA (p.Gly371=)
c.*812_*813delinsGA (n.*812_*813delinsGA)
c.981_982delinsGA (p.Gly327=)
c.1101_1102delinsGA (p.Gly367=)
c.822_823delinsGA (p.Gly274=)
c.1233_1234delinsGA (p.Gly411=)
c.272+236_272+237delinsGA (n.272+236_272+237delinsGA)
c.894_895delinsGA (p.Gly298=)
c.762_763delinsGA (p.Gly254=)
c.759_760delinsGA (p.Gly253=)
c.843_844delinsGA (p.Gly281=)
c.774_775delinsGA (p.Gly258=)
c.-192_-191delinsGA (n.-192_-191delinsGA)
12g.55698473_55698485delCA947942724ITGA7c.*775+26_*775+38del (n.*775+26_*775+38del)
c.616_628del (p.His206SerfsTer?)
c.1102_1114del (p.His368SerfsTer?)
c.*801_*813del (n.*801_*813del)
c.970_982del (p.His324SerfsTer?)
c.1090_1102del (p.His364SerfsTer?)
c.811_823del (p.His271SerfsTer?)
c.1222_1234del (p.His408SerfsTer?)
c.272+225_272+237del (n.272+225_272+237del)
c.883_895del (p.His295SerfsTer?)
c.751_763del (p.His251SerfsTer?)
c.748_760del (p.His250SerfsTer?)
c.832_844del (p.His278SerfsTer?)
c.763_775del (p.His255SerfsTer?)
c.-203_-191del (n.-203_-191del)
 dbSNP gnomAD v3 gnomAD v4
12g.55698474C>ACA480149537ITGA7c.*775+37G>T (n.*775+37G>T)
c.627G>T (p.Gly209=)
c.1113G>T (p.Gly371=)
c.*812G>T (n.*812G>T)
c.981G>T (p.Gly327=)
c.1101G>T (p.Gly367=)
c.822G>T (p.Gly274=)
c.1233G>T (p.Gly411=)
c.272+236G>T (n.272+236G>T)
c.894G>T (p.Gly298=)
c.762G>T (p.Gly254=)
c.759G>T (p.Gly253=)
c.843G>T (p.Gly281=)
c.774G>T (p.Gly258=)
c.-192G>T (n.-192G>T)
12g.55698474C>GCA480149538ITGA7c.*775+37G>C (n.*775+37G>C)
c.627G>C (p.Gly209=)
c.1113G>C (p.Gly371=)
c.*812G>C (n.*812G>C)
c.981G>C (p.Gly327=)
c.1101G>C (p.Gly367=)
c.822G>C (p.Gly274=)
c.1233G>C (p.Gly411=)
c.272+236G>C (n.272+236G>C)
c.894G>C (p.Gly298=)
c.762G>C (p.Gly254=)
c.759G>C (p.Gly253=)
c.843G>C (p.Gly281=)
c.774G>C (p.Gly258=)
c.-192G>C (n.-192G>C)
12g.55698474C>TCA480149539ITGA7c.*775+37G>A (n.*775+37G>A)
c.627G>A (p.Gly209=)
c.1113G>A (p.Gly371=)
c.*812G>A (n.*812G>A)
c.981G>A (p.Gly327=)
c.1101G>A (p.Gly367=)
c.822G>A (p.Gly274=)
c.1233G>A (p.Gly411=)
c.272+236G>A (n.272+236G>A)
c.894G>A (p.Gly298=)
c.762G>A (p.Gly254=)
c.759G>A (p.Gly253=)
c.843G>A (p.Gly281=)
c.774G>A (p.Gly258=)
c.-192G>A (n.-192G>A)
12g.55698476delCA2038044627ITGA7c.*775+37del (n.*775+37del)
c.627del (p.Ile210SerfsTer?)
c.1113del (p.Ile372SerfsTer?)
c.*812del (n.*812del)
c.981del (p.Ile328SerfsTer?)
c.1101del (p.Ile368SerfsTer?)
c.822del (p.Ile275SerfsTer?)
c.1233del (p.Ile412SerfsTer?)
c.272+236del (n.272+236del)
c.894del (p.Ile299SerfsTer?)
c.762del (p.Ile255SerfsTer?)
c.759del (p.Ile254SerfsTer?)
c.843del (p.Ile282SerfsTer?)
c.774del (p.Ile259SerfsTer?)
c.-192del (n.-192del)
 dbSNP
12g.55698475C>ACA385190230ITGA7c.*775+36G>T (n.*775+36G>T)
c.626G>T (p.Gly209Val)
c.1112G>T (p.Gly371Val)
c.*811G>T (n.*811G>T)
c.980G>T (p.Gly327Val)
c.1100G>T (p.Gly367Val)
c.821G>T (p.Gly274Val)
c.1232G>T (p.Gly411Val)
c.272+235G>T (n.272+235G>T)
c.893G>T (p.Gly298Val)
c.761G>T (p.Gly254Val)
c.758G>T (p.Gly253Val)
c.842G>T (p.Gly281Val)
c.773G>T (p.Gly258Val)
c.-193G>T (n.-193G>T)
12g.55698475C>GCA385190231ITGA7c.*775+36G>C (n.*775+36G>C)
c.626G>C (p.Gly209Ala)
c.1112G>C (p.Gly371Ala)
c.*811G>C (n.*811G>C)
c.980G>C (p.Gly327Ala)
c.1100G>C (p.Gly367Ala)
c.821G>C (p.Gly274Ala)
c.1232G>C (p.Gly411Ala)
c.272+235G>C (n.272+235G>C)
c.893G>C (p.Gly298Ala)
c.761G>C (p.Gly254Ala)
c.758G>C (p.Gly253Ala)
c.842G>C (p.Gly281Ala)
c.773G>C (p.Gly258Ala)
c.-193G>C (n.-193G>C)
12g.55698475C>TCA385190232ITGA7c.*775+36G>A (n.*775+36G>A)
c.626G>A (p.Gly209Glu)
c.1112G>A (p.Gly371Glu)
c.*811G>A (n.*811G>A)
c.980G>A (p.Gly327Glu)
c.1100G>A (p.Gly367Glu)
c.821G>A (p.Gly274Glu)
c.1232G>A (p.Gly411Glu)
c.272+235G>A (n.272+235G>A)
c.893G>A (p.Gly298Glu)
c.761G>A (p.Gly254Glu)
c.758G>A (p.Gly253Glu)
c.842G>A (p.Gly281Glu)
c.773G>A (p.Gly258Glu)
c.-193G>A (n.-193G>A)
12g.55698476C>ACA385190233ITGA7c.*775+35G>T (n.*775+35G>T)
c.625G>T (p.Gly209Trp)
c.1111G>T (p.Gly371Trp)
c.*810G>T (n.*810G>T)
c.979G>T (p.Gly327Trp)
c.1099G>T (p.Gly367Trp)
c.820G>T (p.Gly274Trp)
c.1231G>T (p.Gly411Trp)
c.272+234G>T (n.272+234G>T)
c.892G>T (p.Gly298Trp)
c.760G>T (p.Gly254Trp)
c.757G>T (p.Gly253Trp)
c.841G>T (p.Gly281Trp)
c.772G>T (p.Gly258Trp)
c.-194G>T (n.-194G>T)
 COSMIC COSMIC COSMIC COSMIC
12g.55698476C>GCA385190234ITGA7c.*775+35G>C (n.*775+35G>C)
c.625G>C (p.Gly209Arg)
c.1111G>C (p.Gly371Arg)
c.*810G>C (n.*810G>C)
c.979G>C (p.Gly327Arg)
c.1099G>C (p.Gly367Arg)
c.820G>C (p.Gly274Arg)
c.1231G>C (p.Gly411Arg)
c.272+234G>C (n.272+234G>C)
c.892G>C (p.Gly298Arg)
c.760G>C (p.Gly254Arg)
c.757G>C (p.Gly253Arg)
c.841G>C (p.Gly281Arg)
c.772G>C (p.Gly258Arg)
c.-194G>C (n.-194G>C)
12g.55698476C>TCA385190235ITGA7c.*775+35G>A (n.*775+35G>A)
c.625G>A (p.Gly209Arg)
c.1111G>A (p.Gly371Arg)
c.*810G>A (n.*810G>A)
c.979G>A (p.Gly327Arg)
c.1099G>A (p.Gly367Arg)
c.820G>A (p.Gly274Arg)
c.1231G>A (p.Gly411Arg)
c.272+234G>A (n.272+234G>A)
c.892G>A (p.Gly298Arg)
c.760G>A (p.Gly254Arg)
c.757G>A (p.Gly253Arg)
c.841G>A (p.Gly281Arg)
c.772G>A (p.Gly258Arg)
c.-194G>A (n.-194G>A)
12g.55698477A>CCA480149543ITGA7c.*775+34T>G (n.*775+34T>G)
c.624T>G (p.Ala208=)
c.1110T>G (p.Ala370=)
c.*809T>G (n.*809T>G)
c.978T>G (p.Ala326=)
c.1098T>G (p.Ala366=)
c.819T>G (p.Ala273=)
c.1230T>G (p.Ala410=)
c.272+233T>G (n.272+233T>G)
c.891T>G (p.Ala297=)
c.759T>G (p.Ala253=)
c.756T>G (p.Ala252=)
c.840T>G (p.Ala280=)
c.771T>G (p.Ala257=)
c.-195T>G (n.-195T>G)
12g.55698477A>GCA480149544ITGA7c.*775+34T>C (n.*775+34T>C)
c.624T>C (p.Ala208=)
c.1110T>C (p.Ala370=)
c.*809T>C (n.*809T>C)
c.978T>C (p.Ala326=)
c.1098T>C (p.Ala366=)
c.819T>C (p.Ala273=)
c.1230T>C (p.Ala410=)
c.272+233T>C (n.272+233T>C)
c.891T>C (p.Ala297=)
c.759T>C (p.Ala253=)
c.756T>C (p.Ala252=)
c.840T>C (p.Ala280=)
c.771T>C (p.Ala257=)
c.-195T>C (n.-195T>C)
12g.55698477A>TCA480149545ITGA7c.*775+34T>A (n.*775+34T>A)
c.624T>A (p.Ala208=)
c.1110T>A (p.Ala370=)
c.*809T>A (n.*809T>A)
c.978T>A (p.Ala326=)
c.1098T>A (p.Ala366=)
c.819T>A (p.Ala273=)
c.1230T>A (p.Ala410=)
c.272+233T>A (n.272+233T>A)
c.891T>A (p.Ala297=)
c.759T>A (p.Ala253=)
c.756T>A (p.Ala252=)
c.840T>A (p.Ala280=)
c.771T>A (p.Ala257=)
c.-195T>A (n.-195T>A)
12g.55698478G>ACA385190236ITGA7c.*775+33C>T (n.*775+33C>T)
c.623C>T (p.Ala208Val)
c.1109C>T (p.Ala370Val)
c.*808C>T (n.*808C>T)
c.977C>T (p.Ala326Val)
c.1097C>T (p.Ala366Val)
c.818C>T (p.Ala273Val)
c.1229C>T (p.Ala410Val)
c.272+232C>T (n.272+232C>T)
c.890C>T (p.Ala297Val)
c.758C>T (p.Ala253Val)
c.755C>T (p.Ala252Val)
c.839C>T (p.Ala280Val)
c.770C>T (p.Ala257Val)
c.-196C>T (n.-196C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.55698478G>CCA385190237ITGA7c.*775+33C>G (n.*775+33C>G)
c.623C>G (p.Ala208Gly)
c.1109C>G (p.Ala370Gly)
c.*808C>G (n.*808C>G)
c.977C>G (p.Ala326Gly)
c.1097C>G (p.Ala366Gly)
c.818C>G (p.Ala273Gly)
c.1229C>G (p.Ala410Gly)
c.272+232C>G (n.272+232C>G)
c.890C>G (p.Ala297Gly)
c.758C>G (p.Ala253Gly)
c.755C>G (p.Ala252Gly)
c.839C>G (p.Ala280Gly)
c.770C>G (p.Ala257Gly)
c.-196C>G (n.-196C>G)
12g.55698478G=CA2038044632ITGA7c.*775+33C= (n.*775+33C=)
c.623C= (p.Ala208=)
c.1109C= (p.Ala370=)
c.*808C= (n.*808C=)
c.977C= (p.Ala326=)
c.1097C= (p.Ala366=)
c.818C= (p.Ala273=)
c.1229C= (p.Ala410=)
c.272+232C= (n.272+232C=)
c.890C= (p.Ala297=)
c.758C= (p.Ala253=)
c.755C= (p.Ala252=)
c.839C= (p.Ala280=)
c.770C= (p.Ala257=)
c.-196C= (n.-196C=)
12g.55698478G>TCA385190238ITGA7c.*775+33C>A (n.*775+33C>A)
c.623C>A (p.Ala208Asp)
c.1109C>A (p.Ala370Asp)
c.*808C>A (n.*808C>A)
c.977C>A (p.Ala326Asp)
c.1097C>A (p.Ala366Asp)
c.818C>A (p.Ala273Asp)
c.1229C>A (p.Ala410Asp)
c.272+232C>A (n.272+232C>A)
c.890C>A (p.Ala297Asp)
c.758C>A (p.Ala253Asp)
c.755C>A (p.Ala252Asp)
c.839C>A (p.Ala280Asp)
c.770C>A (p.Ala257Asp)
c.-196C>A (n.-196C>A)
12g.55698479C>ACA385190240ITGA7c.*775+32G>T (n.*775+32G>T)
c.622G>T (p.Ala208Ser)
c.1108G>T (p.Ala370Ser)
c.*807G>T (n.*807G>T)
c.976G>T (p.Ala326Ser)
c.1096G>T (p.Ala366Ser)
c.817G>T (p.Ala273Ser)
c.1228G>T (p.Ala410Ser)
c.272+231G>T (n.272+231G>T)
c.889G>T (p.Ala297Ser)
c.757G>T (p.Ala253Ser)
c.754G>T (p.Ala252Ser)
c.838G>T (p.Ala280Ser)
c.769G>T (p.Ala257Ser)
c.-197G>T (n.-197G>T)
12g.55698479C>GCA385190243ITGA7c.*775+32G>C (n.*775+32G>C)
c.622G>C (p.Ala208Pro)
c.1108G>C (p.Ala370Pro)
c.*807G>C (n.*807G>C)
c.976G>C (p.Ala326Pro)
c.1096G>C (p.Ala366Pro)
c.817G>C (p.Ala273Pro)
c.1228G>C (p.Ala410Pro)
c.272+231G>C (n.272+231G>C)
c.889G>C (p.Ala297Pro)
c.757G>C (p.Ala253Pro)
c.754G>C (p.Ala252Pro)
c.838G>C (p.Ala280Pro)
c.769G>C (p.Ala257Pro)
c.-197G>C (n.-197G>C)
12g.55698479C>TCA385190244ITGA7c.*775+32G>A (n.*775+32G>A)
c.622G>A (p.Ala208Thr)
c.1108G>A (p.Ala370Thr)
c.*807G>A (n.*807G>A)
c.976G>A (p.Ala326Thr)
c.1096G>A (p.Ala366Thr)
c.817G>A (p.Ala273Thr)
c.1228G>A (p.Ala410Thr)
c.272+231G>A (n.272+231G>A)
c.889G>A (p.Ala297Thr)
c.757G>A (p.Ala253Thr)
c.754G>A (p.Ala252Thr)
c.838G>A (p.Ala280Thr)
c.769G>A (p.Ala257Thr)
c.-197G>A (n.-197G>A)
 gnomAD v4
12g.55698480C>ACA385190246ITGA7c.*775+31G>T (n.*775+31G>T)
c.621G>T (p.Trp207Cys)
c.1107G>T (p.Trp369Cys)
c.*806G>T (n.*806G>T)
c.975G>T (p.Trp325Cys)
c.1095G>T (p.Trp365Cys)
c.816G>T (p.Trp272Cys)
c.1227G>T (p.Trp409Cys)
c.272+230G>T (n.272+230G>T)
c.888G>T (p.Trp296Cys)
c.756G>T (p.Trp252Cys)
c.753G>T (p.Trp251Cys)
c.837G>T (p.Trp279Cys)
c.768G>T (p.Trp256Cys)
c.-198G>T (n.-198G>T)
12g.55698480C>GCA385190250ITGA7c.*775+31G>C (n.*775+31G>C)
c.621G>C (p.Trp207Cys)
c.1107G>C (p.Trp369Cys)
c.*806G>C (n.*806G>C)
c.975G>C (p.Trp325Cys)
c.1095G>C (p.Trp365Cys)
c.816G>C (p.Trp272Cys)
c.1227G>C (p.Trp409Cys)
c.272+230G>C (n.272+230G>C)
c.888G>C (p.Trp296Cys)
c.756G>C (p.Trp252Cys)
c.753G>C (p.Trp251Cys)
c.837G>C (p.Trp279Cys)
c.768G>C (p.Trp256Cys)
c.-198G>C (n.-198G>C)
12g.55698480C>TCA385190247ITGA7c.*775+31G>A (n.*775+31G>A)
c.621G>A (p.Trp207Ter)
c.1107G>A (p.Trp369Ter)
c.*806G>A (n.*806G>A)
c.975G>A (p.Trp325Ter)
c.1095G>A (p.Trp365Ter)
c.816G>A (p.Trp272Ter)
c.1227G>A (p.Trp409Ter)
c.272+230G>A (n.272+230G>A)
c.888G>A (p.Trp296Ter)
c.756G>A (p.Trp252Ter)
c.753G>A (p.Trp251Ter)
c.837G>A (p.Trp279Ter)
c.768G>A (p.Trp256Ter)
c.-198G>A (n.-198G>A)
12g.55698481C>ACA385190252ITGA7c.*775+30G>T (n.*775+30G>T)
c.620G>T (p.Trp207Leu)
c.1106G>T (p.Trp369Leu)
c.*805G>T (n.*805G>T)
c.974G>T (p.Trp325Leu)
c.1094G>T (p.Trp365Leu)
c.815G>T (p.Trp272Leu)
c.1226G>T (p.Trp409Leu)
c.272+229G>T (n.272+229G>T)
c.887G>T (p.Trp296Leu)
c.755G>T (p.Trp252Leu)
c.752G>T (p.Trp251Leu)
c.836G>T (p.Trp279Leu)
c.767G>T (p.Trp256Leu)
c.-199G>T (n.-199G>T)
12g.55698481C=CA2038044635ITGA7c.*775+30G= (n.*775+30G=)
c.620G= (p.Trp207=)
c.1106G= (p.Trp369=)
c.*805G= (n.*805G=)
c.974G= (p.Trp325=)
c.1094G= (p.Trp365=)
c.815G= (p.Trp272=)
c.1226G= (p.Trp409=)
c.272+229G= (n.272+229G=)
c.887G= (p.Trp296=)
c.755G= (p.Trp252=)
c.752G= (p.Trp251=)
c.836G= (p.Trp279=)
c.767G= (p.Trp256=)
c.-199G= (n.-199G=)
12g.55698481C>GCA6616063ITGA7c.*775+30G>C (n.*775+30G>C)
c.620G>C (p.Trp207Ser)
c.1106G>C (p.Trp369Ser)
c.*805G>C (n.*805G>C)
c.974G>C (p.Trp325Ser)
c.1094G>C (p.Trp365Ser)
c.815G>C (p.Trp272Ser)
c.1226G>C (p.Trp409Ser)
c.272+229G>C (n.272+229G>C)
c.887G>C (p.Trp296Ser)
c.755G>C (p.Trp252Ser)
c.752G>C (p.Trp251Ser)
c.836G>C (p.Trp279Ser)
c.767G>C (p.Trp256Ser)
c.-199G>C (n.-199G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698481C>TCA6616064ITGA7c.*775+30G>A (n.*775+30G>A)
c.620G>A (p.Trp207Ter)
c.1106G>A (p.Trp369Ter)
c.*805G>A (n.*805G>A)
c.974G>A (p.Trp325Ter)
c.1094G>A (p.Trp365Ter)
c.815G>A (p.Trp272Ter)
c.1226G>A (p.Trp409Ter)
c.272+229G>A (n.272+229G>A)
c.887G>A (p.Trp296Ter)
c.755G>A (p.Trp252Ter)
c.752G>A (p.Trp251Ter)
c.836G>A (p.Trp279Ter)
c.767G>A (p.Trp256Ter)
c.-199G>A (n.-199G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698482A>CCA385190257ITGA7c.*775+29T>G (n.*775+29T>G)
c.619T>G (p.Trp207Gly)
c.1105T>G (p.Trp369Gly)
c.*804T>G (n.*804T>G)
c.973T>G (p.Trp325Gly)
c.1093T>G (p.Trp365Gly)
c.814T>G (p.Trp272Gly)
c.1225T>G (p.Trp409Gly)
c.272+228T>G (n.272+228T>G)
c.886T>G (p.Trp296Gly)
c.754T>G (p.Trp252Gly)
c.751T>G (p.Trp251Gly)
c.835T>G (p.Trp279Gly)
c.766T>G (p.Trp256Gly)
c.-200T>G (n.-200T>G)
12g.55698482A>GCA385190259ITGA7c.*775+29T>C (n.*775+29T>C)
c.619T>C (p.Trp207Arg)
c.1105T>C (p.Trp369Arg)
c.*804T>C (n.*804T>C)
c.973T>C (p.Trp325Arg)
c.1093T>C (p.Trp365Arg)
c.814T>C (p.Trp272Arg)
c.1225T>C (p.Trp409Arg)
c.272+228T>C (n.272+228T>C)
c.886T>C (p.Trp296Arg)
c.754T>C (p.Trp252Arg)
c.751T>C (p.Trp251Arg)
c.835T>C (p.Trp279Arg)
c.766T>C (p.Trp256Arg)
c.-200T>C (n.-200T>C)
 gnomAD v4
12g.55698482A>TCA385190262ITGA7c.*775+29T>A (n.*775+29T>A)
c.619T>A (p.Trp207Arg)
c.1105T>A (p.Trp369Arg)
c.*804T>A (n.*804T>A)
c.973T>A (p.Trp325Arg)
c.1093T>A (p.Trp365Arg)
c.814T>A (p.Trp272Arg)
c.1225T>A (p.Trp409Arg)
c.272+228T>A (n.272+228T>A)
c.886T>A (p.Trp296Arg)
c.754T>A (p.Trp252Arg)
c.751T>A (p.Trp251Arg)
c.835T>A (p.Trp279Arg)
c.766T>A (p.Trp256Arg)
c.-200T>A (n.-200T>A)
12g.55698483G>ACA480149548ITGA7c.*775+28C>T (n.*775+28C>T)
c.618C>T (p.His206=)
c.1104C>T (p.His368=)
c.*803C>T (n.*803C>T)
c.972C>T (p.His324=)
c.1092C>T (p.His364=)
c.813C>T (p.His271=)
c.1224C>T (p.His408=)
c.272+227C>T (n.272+227C>T)
c.885C>T (p.His295=)
c.753C>T (p.His251=)
c.750C>T (p.His250=)
c.834C>T (p.His278=)
c.765C>T (p.His255=)
c.-201C>T (n.-201C>T)
12g.55698483G>CCA385190264ITGA7c.*775+28C>G (n.*775+28C>G)
c.618C>G (p.His206Gln)
c.1104C>G (p.His368Gln)
c.*803C>G (n.*803C>G)
c.972C>G (p.His324Gln)
c.1092C>G (p.His364Gln)
c.813C>G (p.His271Gln)
c.1224C>G (p.His408Gln)
c.272+227C>G (n.272+227C>G)
c.885C>G (p.His295Gln)
c.753C>G (p.His251Gln)
c.750C>G (p.His250Gln)
c.834C>G (p.His278Gln)
c.765C>G (p.His255Gln)
c.-201C>G (n.-201C>G)
12g.55698483G>TCA385190265ITGA7c.*775+28C>A (n.*775+28C>A)
c.618C>A (p.His206Gln)
c.1104C>A (p.His368Gln)
c.*803C>A (n.*803C>A)
c.972C>A (p.His324Gln)
c.1092C>A (p.His364Gln)
c.813C>A (p.His271Gln)
c.1224C>A (p.His408Gln)
c.272+227C>A (n.272+227C>A)
c.885C>A (p.His295Gln)
c.753C>A (p.His251Gln)
c.750C>A (p.His250Gln)
c.834C>A (p.His278Gln)
c.765C>A (p.His255Gln)
c.-201C>A (n.-201C>A)
12g.55698484T>ACA6616065ITGA7c.*775+27A>T (n.*775+27A>T)
c.617A>T (p.His206Leu)
c.1103A>T (p.His368Leu)
c.*802A>T (n.*802A>T)
c.971A>T (p.His324Leu)
c.1091A>T (p.His364Leu)
c.812A>T (p.His271Leu)
c.1223A>T (p.His408Leu)
c.272+226A>T (n.272+226A>T)
c.884A>T (p.His295Leu)
c.752A>T (p.His251Leu)
c.749A>T (p.His250Leu)
c.833A>T (p.His278Leu)
c.764A>T (p.His255Leu)
c.-202A>T (n.-202A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55698484T>CCA385190268ITGA7c.*775+27A>G (n.*775+27A>G)
c.617A>G (p.His206Arg)
c.1103A>G (p.His368Arg)
c.*802A>G (n.*802A>G)
c.971A>G (p.His324Arg)
c.1091A>G (p.His364Arg)
c.812A>G (p.His271Arg)
c.1223A>G (p.His408Arg)
c.272+226A>G (n.272+226A>G)
c.884A>G (p.His295Arg)
c.752A>G (p.His251Arg)
c.749A>G (p.His250Arg)
c.833A>G (p.His278Arg)
c.764A>G (p.His255Arg)
c.-202A>G (n.-202A>G)
12g.55698484T>GCA385190269ITGA7c.*775+27A>C (n.*775+27A>C)
c.617A>C (p.His206Pro)
c.1103A>C (p.His368Pro)
c.*802A>C (n.*802A>C)
c.971A>C (p.His324Pro)
c.1091A>C (p.His364Pro)
c.812A>C (p.His271Pro)
c.1223A>C (p.His408Pro)
c.272+226A>C (n.272+226A>C)
c.884A>C (p.His295Pro)
c.752A>C (p.His251Pro)
c.749A>C (p.His250Pro)
c.833A>C (p.His278Pro)
c.764A>C (p.His255Pro)
c.-202A>C (n.-202A>C)
12g.55698484T=CA2038044643ITGA7c.*775+27A= (n.*775+27A=)
c.617A= (p.His206=)
c.1103A= (p.His368=)
c.*802A= (n.*802A=)
c.971A= (p.His324=)
c.1091A= (p.His364=)
c.812A= (p.His271=)
c.1223A= (p.His408=)
c.272+226A= (n.272+226A=)
c.884A= (p.His295=)
c.752A= (p.His251=)
c.749A= (p.His250=)
c.833A= (p.His278=)
c.764A= (p.His255=)
c.-202A= (n.-202A=)
12g.55698485G>ACA385190272ITGA7c.*775+26C>T (n.*775+26C>T)
c.616C>T (p.His206Tyr)
c.1102C>T (p.His368Tyr)
c.*801C>T (n.*801C>T)
c.970C>T (p.His324Tyr)
c.1090C>T (p.His364Tyr)
c.811C>T (p.His271Tyr)
c.1222C>T (p.His408Tyr)
c.272+225C>T (n.272+225C>T)
c.883C>T (p.His295Tyr)
c.751C>T (p.His251Tyr)
c.748C>T (p.His250Tyr)
c.832C>T (p.His278Tyr)
c.763C>T (p.His255Tyr)
c.-203C>T (n.-203C>T)
 ClinVar
12g.55698485G>CCA385190274ITGA7c.*775+26C>G (n.*775+26C>G)
c.616C>G (p.His206Asp)
c.1102C>G (p.His368Asp)
c.*801C>G (n.*801C>G)
c.970C>G (p.His324Asp)
c.1090C>G (p.His364Asp)
c.811C>G (p.His271Asp)
c.1222C>G (p.His408Asp)
c.272+225C>G (n.272+225C>G)
c.883C>G (p.His295Asp)
c.751C>G (p.His251Asp)
c.748C>G (p.His250Asp)
c.832C>G (p.His278Asp)
c.763C>G (p.His255Asp)
c.-203C>G (n.-203C>G)
12g.55698485G>TCA385190275ITGA7c.*775+26C>A (n.*775+26C>A)
c.616C>A (p.His206Asn)
c.1102C>A (p.His368Asn)
c.*801C>A (n.*801C>A)
c.970C>A (p.His324Asn)
c.1090C>A (p.His364Asn)
c.811C>A (p.His271Asn)
c.1222C>A (p.His408Asn)
c.272+225C>A (n.272+225C>A)
c.883C>A (p.His295Asn)
c.751C>A (p.His251Asn)
c.748C>A (p.His250Asn)
c.832C>A (p.His278Asn)
c.763C>A (p.His255Asn)
c.-203C>A (n.-203C>A)
12g.55698486A>CCA480149550ITGA7c.*775+25T>G (n.*775+25T>G)
c.615T>G (p.Gly205=)
c.1101T>G (p.Gly367=)
c.*800T>G (n.*800T>G)
c.969T>G (p.Gly323=)
c.1089T>G (p.Gly363=)
c.810T>G (p.Gly270=)
c.1221T>G (p.Gly407=)
c.272+224T>G (n.272+224T>G)
c.882T>G (p.Gly294=)
c.750T>G (p.Gly250=)
c.747T>G (p.Gly249=)
c.831T>G (p.Gly277=)
c.762T>G (p.Gly254=)
c.-204T>G (n.-204T>G)
12g.55698486A>GCA480149551ITGA7c.*775+25T>C (n.*775+25T>C)
c.615T>C (p.Gly205=)
c.1101T>C (p.Gly367=)
c.*800T>C (n.*800T>C)
c.969T>C (p.Gly323=)
c.1089T>C (p.Gly363=)
c.810T>C (p.Gly270=)
c.1221T>C (p.Gly407=)
c.272+224T>C (n.272+224T>C)
c.882T>C (p.Gly294=)
c.750T>C (p.Gly250=)
c.747T>C (p.Gly249=)
c.831T>C (p.Gly277=)
c.762T>C (p.Gly254=)
c.-204T>C (n.-204T>C)
 gnomAD v4
12g.55698486A>TCA480149553ITGA7c.*775+25T>A (n.*775+25T>A)
c.615T>A (p.Gly205=)
c.1101T>A (p.Gly367=)
c.*800T>A (n.*800T>A)
c.969T>A (p.Gly323=)
c.1089T>A (p.Gly363=)
c.810T>A (p.Gly270=)
c.1221T>A (p.Gly407=)
c.272+224T>A (n.272+224T>A)
c.882T>A (p.Gly294=)
c.750T>A (p.Gly250=)
c.747T>A (p.Gly249=)
c.831T>A (p.Gly277=)
c.762T>A (p.Gly254=)
c.-204T>A (n.-204T>A)
12g.55698486_55698487delinsACCA2038044652ITGA7c.*775+24_*775+25delinsGT (n.*775+24_*775+25delinsGT)
c.614_615delinsGT (p.Gly205=)
c.1100_1101delinsGT (p.Gly367=)
c.*799_*800delinsGT (n.*799_*800delinsGT)
c.968_969delinsGT (p.Gly323=)
c.1088_1089delinsGT (p.Gly363=)
c.809_810delinsGT (p.Gly270=)
c.1220_1221delinsGT (p.Gly407=)
c.272+223_272+224delinsGT (n.272+223_272+224delinsGT)
c.881_882delinsGT (p.Gly294=)
c.749_750delinsGT (p.Gly250=)
c.746_747delinsGT (p.Gly249=)
c.830_831delinsGT (p.Gly277=)
c.761_762delinsGT (p.Gly254=)
c.-205_-204delinsGT (n.-205_-204delinsGT)
12g.55698487C>ACA385190281ITGA7c.*775+24G>T (n.*775+24G>T)
c.614G>T (p.Gly205Val)
c.1100G>T (p.Gly367Val)
c.*799G>T (n.*799G>T)
c.968G>T (p.Gly323Val)
c.1088G>T (p.Gly363Val)
c.809G>T (p.Gly270Val)
c.1220G>T (p.Gly407Val)
c.272+223G>T (n.272+223G>T)
c.881G>T (p.Gly294Val)
c.749G>T (p.Gly250Val)
c.746G>T (p.Gly249Val)
c.830G>T (p.Gly277Val)
c.761G>T (p.Gly254Val)
c.-205G>T (n.-205G>T)
 dbSNP gnomAD v2
12g.55698487C=CA2038044674ITGA7c.*775+24G= (n.*775+24G=)
c.614G= (p.Gly205=)
c.1100G= (p.Gly367=)
c.*799G= (n.*799G=)
c.968G= (p.Gly323=)
c.1088G= (p.Gly363=)
c.809G= (p.Gly270=)
c.1220G= (p.Gly407=)
c.272+223G= (n.272+223G=)
c.881G= (p.Gly294=)
c.749G= (p.Gly250=)
c.746G= (p.Gly249=)
c.830G= (p.Gly277=)
c.761G= (p.Gly254=)
c.-205G= (n.-205G=)
12g.55698487C>GCA385190277ITGA7c.*775+24G>C (n.*775+24G>C)
c.614G>C (p.Gly205Ala)
c.1100G>C (p.Gly367Ala)
c.*799G>C (n.*799G>C)
c.968G>C (p.Gly323Ala)
c.1088G>C (p.Gly363Ala)
c.809G>C (p.Gly270Ala)
c.1220G>C (p.Gly407Ala)
c.272+223G>C (n.272+223G>C)
c.881G>C (p.Gly294Ala)
c.749G>C (p.Gly250Ala)
c.746G>C (p.Gly249Ala)
c.830G>C (p.Gly277Ala)
c.761G>C (p.Gly254Ala)
c.-205G>C (n.-205G>C)
12g.55698487C>TCA385190279ITGA7c.*775+24G>A (n.*775+24G>A)
c.614G>A (p.Gly205Asp)
c.1100G>A (p.Gly367Asp)
c.*799G>A (n.*799G>A)
c.968G>A (p.Gly323Asp)
c.1088G>A (p.Gly363Asp)
c.809G>A (p.Gly270Asp)
c.1220G>A (p.Gly407Asp)
c.272+223G>A (n.272+223G>A)
c.881G>A (p.Gly294Asp)
c.749G>A (p.Gly250Asp)
c.746G>A (p.Gly249Asp)
c.830G>A (p.Gly277Asp)
c.761G>A (p.Gly254Asp)
c.-205G>A (n.-205G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
12g.55698492dupCA153197ITGA7c.*775+24dup (n.*775+24dup)
c.614dup (p.His206SerfsTer15)
c.1100dup (p.His368SerfsTer15)
c.*799dup (n.*799dup)
c.968dup (p.His324SerfsTer15)
c.1088dup (p.His364SerfsTer15)
c.809dup (p.His271SerfsTer15)
c.1220dup (p.His408SerfsTer15)
c.272+223dup (n.272+223dup)
c.881dup (p.His295SerfsTer15)
c.749dup (p.His251SerfsTer15)
c.746dup (p.His250SerfsTer15)
c.830dup (p.His278SerfsTer15)
c.761dup (p.His255SerfsTer15)
c.-205dup (n.-205dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55698492delCA6616066ITGA7c.*775+24del (n.*775+24del)
c.614del (p.Gly205ValfsTer?)
c.1100del (p.Gly367ValfsTer?)
c.*799del (n.*799del)
c.968del (p.Gly323ValfsTer?)
c.1088del (p.Gly363ValfsTer?)
c.809del (p.Gly270ValfsTer?)
c.1220del (p.Gly407ValfsTer?)
c.272+223del (n.272+223del)
c.881del (p.Gly294ValfsTer?)
c.749del (p.Gly250ValfsTer?)
c.746del (p.Gly249ValfsTer?)
c.830del (p.Gly277ValfsTer?)
c.761del (p.Gly254ValfsTer?)
c.-205del (n.-205del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
12g.55698488C>ACA385190283ITGA7c.*775+23G>T (n.*775+23G>T)
c.613G>T (p.Gly205Cys)
c.1099G>T (p.Gly367Cys)
c.*798G>T (n.*798G>T)
c.967G>T (p.Gly323Cys)
c.1087G>T (p.Gly363Cys)
c.808G>T (p.Gly270Cys)
c.1219G>T (p.Gly407Cys)
c.272+222G>T (n.272+222G>T)
c.880G>T (p.Gly294Cys)
c.748G>T (p.Gly250Cys)
c.745G>T (p.Gly249Cys)
c.829G>T (p.Gly277Cys)
c.760G>T (p.Gly254Cys)
c.-206G>T (n.-206G>T)
 gnomAD v4
12g.55698488C=CA2038044688ITGA7c.*775+23G= (n.*775+23G=)
c.613G= (p.Gly205=)
c.1099G= (p.Gly367=)
c.*798G= (n.*798G=)
c.967G= (p.Gly323=)
c.1087G= (p.Gly363=)
c.808G= (p.Gly270=)
c.1219G= (p.Gly407=)
c.272+222G= (n.272+222G=)
c.880G= (p.Gly294=)
c.748G= (p.Gly250=)
c.745G= (p.Gly249=)
c.829G= (p.Gly277=)
c.760G= (p.Gly254=)
c.-206G= (n.-206G=)
12g.55698488C>GCA385190285ITGA7c.*775+23G>C (n.*775+23G>C)
c.613G>C (p.Gly205Arg)
c.1099G>C (p.Gly367Arg)
c.*798G>C (n.*798G>C)
c.967G>C (p.Gly323Arg)
c.1087G>C (p.Gly363Arg)
c.808G>C (p.Gly270Arg)
c.1219G>C (p.Gly407Arg)
c.272+222G>C (n.272+222G>C)
c.880G>C (p.Gly294Arg)
c.748G>C (p.Gly250Arg)
c.745G>C (p.Gly249Arg)
c.829G>C (p.Gly277Arg)
c.760G>C (p.Gly254Arg)
c.-206G>C (n.-206G>C)
 ClinVar dbSNP gnomAD v4
12g.55698488C>TCA385190288ITGA7c.*775+23G>A (n.*775+23G>A)
c.613G>A (p.Gly205Ser)
c.1099G>A (p.Gly367Ser)
c.*798G>A (n.*798G>A)
c.967G>A (p.Gly323Ser)
c.1087G>A (p.Gly363Ser)
c.808G>A (p.Gly270Ser)
c.1219G>A (p.Gly407Ser)
c.272+222G>A (n.272+222G>A)
c.880G>A (p.Gly294Ser)
c.748G>A (p.Gly250Ser)
c.745G>A (p.Gly249Ser)
c.829G>A (p.Gly277Ser)
c.760G>A (p.Gly254Ser)
c.-206G>A (n.-206G>A)
12g.55698489C>ACA6616067ITGA7c.*775+22G>T (n.*775+22G>T)
c.612G>T (p.Gly204=)
c.1098G>T (p.Gly366=)
c.*797G>T (n.*797G>T)
c.966G>T (p.Gly322=)
c.1086G>T (p.Gly362=)
c.807G>T (p.Gly269=)
c.1218G>T (p.Gly406=)
c.272+221G>T (n.272+221G>T)
c.879G>T (p.Gly293=)
c.747G>T (p.Gly249=)
c.744G>T (p.Gly248=)
c.828G>T (p.Gly276=)
c.759G>T (p.Gly253=)
c.-207G>T (n.-207G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.55698489C=CA2038044690ITGA7c.*775+22G= (n.*775+22G=)
c.612G= (p.Gly204=)
c.1098G= (p.Gly366=)
c.*797G= (n.*797G=)
c.966G= (p.Gly322=)
c.1086G= (p.Gly362=)
c.807G= (p.Gly269=)
c.1218G= (p.Gly406=)
c.272+221G= (n.272+221G=)
c.879G= (p.Gly293=)
c.747G= (p.Gly249=)
c.744G= (p.Gly248=)
c.828G= (p.Gly276=)
c.759G= (p.Gly253=)
c.-207G= (n.-207G=)
12g.55698489C>GCA480149555ITGA7c.*775+22G>C (n.*775+22G>C)
c.612G>C (p.Gly204=)
c.1098G>C (p.Gly366=)
c.*797G>C (n.*797G>C)
c.966G>C (p.Gly322=)
c.1086G>C (p.Gly362=)
c.807G>C (p.Gly269=)
c.1218G>C (p.Gly406=)
c.272+221G>C (n.272+221G>C)
c.879G>C (p.Gly293=)
c.747G>C (p.Gly249=)
c.744G>C (p.Gly248=)
c.828G>C (p.Gly276=)
c.759G>C (p.Gly253=)
c.-207G>C (n.-207G>C)
12g.55698489C>TCA480149554ITGA7c.*775+22G>A (n.*775+22G>A)
c.612G>A (p.Gly204=)
c.1098G>A (p.Gly366=)
c.*797G>A (n.*797G>A)
c.966G>A (p.Gly322=)
c.1086G>A (p.Gly362=)
c.807G>A (p.Gly269=)
c.1218G>A (p.Gly406=)
c.272+221G>A (n.272+221G>A)
c.879G>A (p.Gly293=)
c.747G>A (p.Gly249=)
c.744G>A (p.Gly248=)
c.828G>A (p.Gly276=)
c.759G>A (p.Gly253=)
c.-207G>A (n.-207G>A)
 ClinVar
12g.55698490C>ACA385190291ITGA7c.*775+21G>T (n.*775+21G>T)
c.611G>T (p.Gly204Val)
c.1097G>T (p.Gly366Val)
c.*796G>T (n.*796G>T)
c.965G>T (p.Gly322Val)
c.1085G>T (p.Gly362Val)
c.806G>T (p.Gly269Val)
c.1217G>T (p.Gly406Val)
c.272+220G>T (n.272+220G>T)
c.878G>T (p.Gly293Val)
c.746G>T (p.Gly249Val)
c.743G>T (p.Gly248Val)
c.827G>T (p.Gly276Val)
c.758G>T (p.Gly253Val)
c.-208G>T (n.-208G>T)
12g.55698490C=CA2038044696ITGA7c.*775+21G= (n.*775+21G=)
c.611G= (p.Gly204=)
c.1097G= (p.Gly366=)
c.*796G= (n.*796G=)
c.965G= (p.Gly322=)
c.1085G= (p.Gly362=)
c.806G= (p.Gly269=)
c.1217G= (p.Gly406=)
c.272+220G= (n.272+220G=)
c.878G= (p.Gly293=)
c.746G= (p.Gly249=)
c.743G= (p.Gly248=)
c.827G= (p.Gly276=)
c.758G= (p.Gly253=)
c.-208G= (n.-208G=)
12g.55698490C>GCA385190292ITGA7c.*775+21G>C (n.*775+21G>C)
c.611G>C (p.Gly204Ala)
c.1097G>C (p.Gly366Ala)
c.*796G>C (n.*796G>C)
c.965G>C (p.Gly322Ala)
c.1085G>C (p.Gly362Ala)
c.806G>C (p.Gly269Ala)
c.1217G>C (p.Gly406Ala)
c.272+220G>C (n.272+220G>C)
c.878G>C (p.Gly293Ala)
c.746G>C (p.Gly249Ala)
c.743G>C (p.Gly248Ala)
c.827G>C (p.Gly276Ala)
c.758G>C (p.Gly253Ala)
c.-208G>C (n.-208G>C)
12g.55698490C>TCA237574925ITGA7c.*775+21G>A (n.*775+21G>A)
c.611G>A (p.Gly204Glu)
c.1097G>A (p.Gly366Glu)
c.*796G>A (n.*796G>A)
c.965G>A (p.Gly322Glu)
c.1085G>A (p.Gly362Glu)
c.806G>A (p.Gly269Glu)
c.1217G>A (p.Gly406Glu)
c.272+220G>A (n.272+220G>A)
c.878G>A (p.Gly293Glu)
c.746G>A (p.Gly249Glu)
c.743G>A (p.Gly248Glu)
c.827G>A (p.Gly276Glu)
c.758G>A (p.Gly253Glu)
c.-208G>A (n.-208G>A)
 dbSNP COSMIC COSMIC COSMIC COSMIC
12g.55698491C>ACA385190293ITGA7c.*775+20G>T (n.*775+20G>T)
c.610G>T (p.Gly204Trp)
c.1096G>T (p.Gly366Trp)
c.*795G>T (n.*795G>T)
c.964G>T (p.Gly322Trp)
c.1084G>T (p.Gly362Trp)
c.805G>T (p.Gly269Trp)
c.1216G>T (p.Gly406Trp)
c.272+219G>T (n.272+219G>T)
c.877G>T (p.Gly293Trp)
c.745G>T (p.Gly249Trp)
c.742G>T (p.Gly248Trp)
c.826G>T (p.Gly276Trp)
c.757G>T (p.Gly253Trp)
c.-209G>T (n.-209G>T)
12g.55698491C=CA2038044700ITGA7c.*775+20G= (n.*775+20G=)
c.610G= (p.Gly204=)
c.1096G= (p.Gly366=)
c.*795G= (n.*795G=)
c.964G= (p.Gly322=)
c.1084G= (p.Gly362=)
c.805G= (p.Gly269=)
c.1216G= (p.Gly406=)
c.272+219G= (n.272+219G=)
c.877G= (p.Gly293=)
c.745G= (p.Gly249=)
c.742G= (p.Gly248=)
c.826G= (p.Gly276=)
c.757G= (p.Gly253=)
c.-209G= (n.-209G=)
12g.55698491C>GCA385190294ITGA7c.*775+20G>C (n.*775+20G>C)
c.610G>C (p.Gly204Arg)
c.1096G>C (p.Gly366Arg)
c.*795G>C (n.*795G>C)
c.964G>C (p.Gly322Arg)
c.1084G>C (p.Gly362Arg)
c.805G>C (p.Gly269Arg)
c.1216G>C (p.Gly406Arg)
c.272+219G>C (n.272+219G>C)
c.877G>C (p.Gly293Arg)
c.745G>C (p.Gly249Arg)
c.742G>C (p.Gly248Arg)
c.826G>C (p.Gly276Arg)
c.757G>C (p.Gly253Arg)
c.-209G>C (n.-209G>C)
 dbSNP gnomAD v3 gnomAD v4
12g.55698491C>TCA385190296ITGA7c.*775+20G>A (n.*775+20G>A)
c.610G>A (p.Gly204Arg)
c.1096G>A (p.Gly366Arg)
c.*795G>A (n.*795G>A)
c.964G>A (p.Gly322Arg)
c.1084G>A (p.Gly362Arg)
c.805G>A (p.Gly269Arg)
c.1216G>A (p.Gly406Arg)
c.272+219G>A (n.272+219G>A)
c.877G>A (p.Gly293Arg)
c.745G>A (p.Gly249Arg)
c.742G>A (p.Gly248Arg)
c.826G>A (p.Gly276Arg)
c.757G>A (p.Gly253Arg)
c.-209G>A (n.-209G>A)
12g.55698492C>ACA385190297ITGA7c.*775+19G>T (n.*775+19G>T)
c.609G>T (p.Gln203His)
c.1095G>T (p.Gln365His)
c.*794G>T (n.*794G>T)
c.963G>T (p.Gln321His)
c.1083G>T (p.Gln361His)
c.804G>T (p.Gln268His)
c.1215G>T (p.Gln405His)
c.272+218G>T (n.272+218G>T)
c.876G>T (p.Gln292His)
c.744G>T (p.Gln248His)
c.741G>T (p.Gln247His)
c.825G>T (p.Gln275His)
c.756G>T (p.Gln252His)
c.-210G>T (n.-210G>T)
 dbSNP
12g.55698492C=CA2038044707ITGA7c.*775+19G= (n.*775+19G=)
c.609G= (p.Gln203=)
c.1095G= (p.Gln365=)
c.*794G= (n.*794G=)
c.963G= (p.Gln321=)
c.1083G= (p.Gln361=)
c.804G= (p.Gln268=)
c.1215G= (p.Gln405=)
c.272+218G= (n.272+218G=)
c.876G= (p.Gln292=)
c.744G= (p.Gln248=)
c.741G= (p.Gln247=)
c.825G= (p.Gln275=)
c.756G= (p.Gln252=)
c.-210G= (n.-210G=)
12g.55698492C>GCA385190299ITGA7c.*775+19G>C (n.*775+19G>C)
c.609G>C (p.Gln203His)
c.1095G>C (p.Gln365His)
c.*794G>C (n.*794G>C)
c.963G>C (p.Gln321His)
c.1083G>C (p.Gln361His)
c.804G>C (p.Gln268His)
c.1215G>C (p.Gln405His)
c.272+218G>C (n.272+218G>C)
c.876G>C (p.Gln292His)
c.744G>C (p.Gln248His)
c.741G>C (p.Gln247His)
c.825G>C (p.Gln275His)
c.756G>C (p.Gln252His)
c.-210G>C (n.-210G>C)
12g.55698492C>TCA6616068ITGA7c.*775+19G>A (n.*775+19G>A)
c.609G>A (p.Gln203=)
c.1095G>A (p.Gln365=)
c.*794G>A (n.*794G>A)
c.963G>A (p.Gln321=)
c.1083G>A (p.Gln361=)
c.804G>A (p.Gln268=)
c.1215G>A (p.Gln405=)
c.272+218G>A (n.272+218G>A)
c.876G>A (p.Gln292=)
c.744G>A (p.Gln248=)
c.741G>A (p.Gln247=)
c.825G>A (p.Gln275=)
c.756G>A (p.Gln252=)
c.-210G>A (n.-210G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55698492_55698493delinsCTCA2038044706ITGA7c.*775+18_*775+19delinsAG (n.*775+18_*775+19delinsAG)
c.608_609delinsAG (p.Gln203=)
c.1094_1095delinsAG (p.Gln365=)
c.*793_*794delinsAG (n.*793_*794delinsAG)
c.962_963delinsAG (p.Gln321=)
c.1082_1083delinsAG (p.Gln361=)
c.803_804delinsAG (p.Gln268=)
c.1214_1215delinsAG (p.Gln405=)
c.272+217_272+218delinsAG (n.272+217_272+218delinsAG)
c.875_876delinsAG (p.Gln292=)
c.743_744delinsAG (p.Gln248=)
c.740_741delinsAG (p.Gln247=)
c.824_825delinsAG (p.Gln275=)
c.755_756delinsAG (p.Gln252=)
c.-211_-210delinsAG (n.-211_-210delinsAG)

Number of alleles fetched