Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48688838_48688918del | CA2693644735 | WAS | n.354_434del c.1110_1190del (p.Pro371_Pro397del) c.954_1034del (p.Pro319_Pro345del) | gnomAD v4 |
X | g.48688838_48688927del | CA2693644759 | WAS | n.354_443del c.1110_1199del (p.Pro371_Pro400del) c.954_1043del (p.Pro319_Pro348del) | gnomAD v4 |
X | g.48688872C>A | CA412873373 | WAS | n.388C>A c.1144C>A (p.Pro382Thr) c.988C>A (p.Pro330Thr) | dbSNP gnomAD v4 |
X | g.48688872C= | CA2428355722 | WAS | n.388C= c.1144C= (p.Pro382=) c.988C= (p.Pro330=) | |
X | g.48688872C>G | CA412873375 | WAS | n.388C>G c.1144C>G (p.Pro382Ala) c.988C>G (p.Pro330Ala) | |
X | g.48688872C>T | CA412873374 | WAS | n.388C>T c.1144C>T (p.Pro382Ser) c.988C>T (p.Pro330Ser) | gnomAD v4 |
X | g.48688876dup | CA1139554019 | WAS | n.392dup c.1148dup (p.Pro384SerfsTer?) c.992dup (p.Pro332SerfsTer?) | |
X | g.48688876del | CA2693644878 | WAS | n.392del c.1148del (p.Pro383LeufsTer?) c.992del (p.Pro331LeufsTer?) | gnomAD v4 |
X | g.48688873C>A | CA412873376 | WAS | n.389C>A c.1145C>A (p.Pro382His) c.989C>A (p.Pro330His) | gnomAD v4 |
X | g.48688873C>G | CA412873377 | WAS | n.389C>G c.1145C>G (p.Pro382Arg) c.989C>G (p.Pro330Arg) | |
X | g.48688873C>T | CA412873378 | WAS | n.389C>T c.1145C>T (p.Pro382Leu) c.989C>T (p.Pro330Leu) | gnomAD v4 |
X | g.48688874C>A | CA516356275 | WAS | n.390C>A c.1146C>A (p.Pro382=) c.990C>A (p.Pro330=) | gnomAD v4 |
X | g.48688874C>G | CA516356276 | WAS | n.390C>G c.1146C>G (p.Pro382=) c.990C>G (p.Pro330=) | |
X | g.48688874C>T | CA516356277 | WAS | n.390C>T c.1146C>T (p.Pro382=) c.990C>T (p.Pro330=) | gnomAD v4 COSMIC |
X | g.48688875C>A | CA412873379 | WAS | n.391C>A c.1147C>A (p.Pro383Thr) c.991C>A (p.Pro331Thr) | gnomAD v4 |
X | g.48688875C>G | CA412873380 | WAS | n.391C>G c.1147C>G (p.Pro383Ala) c.991C>G (p.Pro331Ala) | |
X | g.48688875C>T | CA412873381 | WAS | n.391C>T c.1147C>T (p.Pro383Ser) c.991C>T (p.Pro331Ser) | gnomAD v4 |
X | g.48688876C>A | CA412873382 | WAS | n.392C>A c.1148C>A (p.Pro383His) c.992C>A (p.Pro331His) | gnomAD v4 |
X | g.48688876C>G | CA412873383 | WAS | n.392C>G c.1148C>G (p.Pro383Arg) c.992C>G (p.Pro331Arg) | |
X | g.48688876C>T | CA412873384 | WAS | n.392C>T c.1148C>T (p.Pro383Leu) c.992C>T (p.Pro331Leu) | ClinVar gnomAD v4 |
X | g.48688877T>A | CA516356281 | WAS | n.393T>A c.1149T>A (p.Pro383=) c.993T>A (p.Pro331=) | ClinVar gnomAD v3 gnomAD v4 |
X | g.48688877T>C | CA516356282 | WAS | n.393T>C c.1149T>C (p.Pro383=) c.993T>C (p.Pro331=) | dbSNP gnomAD v4 |
X | g.48688877T>G | CA516356283 | WAS | n.393T>G c.1149T>G (p.Pro383=) c.993T>G (p.Pro331=) | |
X | g.48688877T= | CA2428355723 | WAS | n.393T= c.1149T= (p.Pro383=) c.993T= (p.Pro331=) | |
X | g.48688878C>A | CA329102264 | WAS | n.394C>A c.1150C>A (p.Pro384Thr) c.994C>A (p.Pro332Thr) | dbSNP gnomAD v4 |
X | g.48688878C= | CA2428355724 | WAS | n.394C= c.1150C= (p.Pro384=) c.994C= (p.Pro332=) | |
X | g.48688878C>G | CA412873385 | WAS | n.394C>G c.1150C>G (p.Pro384Ala) c.994C>G (p.Pro332Ala) | gnomAD v4 |
X | g.48688878C>T | CA10404041 | WAS | n.394C>T c.1150C>T (p.Pro384Ser) c.994C>T (p.Pro332Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688879dup | CA2695233781 | WAS | n.395dup c.1151dup (p.Pro385ThrfsTer?) c.995dup (p.Pro333ThrfsTer?) | |
X | g.48688879del | CA2693644902 | WAS | n.395del c.1151del (p.Pro384HisfsTer?) c.995del (p.Pro332HisfsTer?) | gnomAD v4 |
X | g.48688879C>A | CA412873389 | WAS | n.395C>A c.1151C>A (p.Pro384Gln) c.995C>A (p.Pro332Gln) | gnomAD v4 |
X | g.48688879C>G | CA412873387 | WAS | n.395C>G c.1151C>G (p.Pro384Arg) c.995C>G (p.Pro332Arg) | |
X | g.48688879C>T | CA412873388 | WAS | n.395C>T c.1151C>T (p.Pro384Leu) c.995C>T (p.Pro332Leu) | |
X | g.48688880A= | CA2428355726 | WAS | n.396A= c.1152A= (p.Pro384=) c.996A= (p.Pro332=) | |
X | g.48688880A>C | CA516356288 | WAS | n.396A>C c.1152A>C (p.Pro384=) c.996A>C (p.Pro332=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48688880A>G | CA516356289 | WAS | n.396A>G c.1152A>G (p.Pro384=) c.996A>G (p.Pro332=) | gnomAD v4 |
X | g.48688880A>T | CA516356290 | WAS | n.396A>T c.1152A>T (p.Pro384=) c.996A>T (p.Pro332=) | |
X | g.48688880_48688881delinsAC | CA2428355725 | WAS | n.396_397delinsAC c.1152_1153delinsAC (p.Pro384=) c.996_997delinsAC (p.Pro332=) | |
X | g.48688881C>A | CA412873390 | WAS | n.397C>A c.1153C>A (p.Pro385Thr) c.997C>A (p.Pro333Thr) | gnomAD v4 |
X | g.48688881C= | CA2428355727 | WAS | n.397C= c.1153C= (p.Pro385=) c.997C= (p.Pro333=) | |
X | g.48688881C>G | CA412873391 | WAS | n.397C>G c.1153C>G (p.Pro385Ala) c.997C>G (p.Pro333Ala) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48688881C>T | CA412873392 | WAS | n.397C>T c.1153C>T (p.Pro385Ser) c.997C>T (p.Pro333Ser) | gnomAD v4 |
X | g.48688885dup | CA10603599 | WAS | n.401dup c.1157dup (p.Gly387TrpfsTer?) c.1001dup (p.Gly335TrpfsTer?) | ClinVar dbSNP gnomAD v4 |
X | g.48688885del | CA1139667532 | WAS | n.401del c.1157del (p.Pro386LeufsTer?) c.1001del (p.Pro334LeufsTer?) | ClinVar dbSNP gnomAD v4 |
X | g.48688882C>A | CA412873393 | WAS | n.398C>A c.1154C>A (p.Pro385His) c.998C>A (p.Pro333His) | gnomAD v4 |
X | g.48688882C= | CA2428355728 | WAS | n.398C= c.1154C= (p.Pro385=) c.998C= (p.Pro333=) | |
X | g.48688882C>G | CA412873394 | WAS | n.398C>G c.1154C>G (p.Pro385Arg) c.998C>G (p.Pro333Arg) | gnomAD v4 |
X | g.48688882C>T | CA412873395 | WAS | n.398C>T c.1154C>T (p.Pro385Leu) c.998C>T (p.Pro333Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.48688883C>A | CA516356295 | WAS | n.399C>A c.1155C>A (p.Pro385=) c.999C>A (p.Pro333=) | gnomAD v4 |
X | g.48688883C= | CA2428355729 | WAS | n.399C= c.1155C= (p.Pro385=) c.999C= (p.Pro333=) | |
X | g.48688883C>G | CA516356294 | WAS | n.399C>G c.1155C>G (p.Pro385=) c.999C>G (p.Pro333=) | |
X | g.48688883C>T | CA10404042 | WAS | n.399C>T c.1155C>T (p.Pro385=) c.999C>T (p.Pro333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48688884C>A | CA412873396 | WAS | n.400C>A c.1156C>A (p.Pro386Thr) c.1000C>A (p.Pro334Thr) | gnomAD v4 |
X | g.48688884C= | CA2428355730 | WAS | n.400C= c.1156C= (p.Pro386=) c.1000C= (p.Pro334=) | |
X | g.48688884C>G | CA412873397 | WAS | n.400C>G c.1156C>G (p.Pro386Ala) c.1000C>G (p.Pro334Ala) | gnomAD v4 |
X | g.48688884C>T | CA329102302 | WAS | n.400C>T c.1156C>T (p.Pro386Ser) c.1000C>T (p.Pro334Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48688885C>A | CA412873400 | WAS | n.401C>A c.1157C>A (p.Pro386His) c.1001C>A (p.Pro334His) | dbSNP gnomAD v4 |
X | g.48688885C= | CA2428355731 | WAS | n.401C= c.1157C= (p.Pro386=) c.1001C= (p.Pro334=) | |
X | g.48688885C>G | CA412873399 | WAS | n.401C>G c.1157C>G (p.Pro386Arg) c.1001C>G (p.Pro334Arg) | |
X | g.48688885C>T | CA412873398 | WAS | n.401C>T c.1157C>T (p.Pro386Leu) c.1001C>T (p.Pro334Leu) | gnomAD v4 |
X | g.48688886del | CA2695233782 | WAS | n.402del c.1158del (p.Gly387GlufsTer?) c.1002del (p.Gly335GlufsTer?) | |
X | g.48688886T>A | CA516356301 | WAS | n.402T>A c.1158T>A (p.Pro386=) c.1002T>A (p.Pro334=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48688886T>C | CA516356300 | WAS | n.402T>C c.1158T>C (p.Pro386=) c.1002T>C (p.Pro334=) | dbSNP gnomAD v4 |
X | g.48688886T>G | CA516356299 | WAS | n.402T>G c.1158T>G (p.Pro386=) c.1002T>G (p.Pro334=) | |
X | g.48688886T= | CA2428355732 | WAS | n.402T= c.1158T= (p.Pro386=) c.1002T= (p.Pro334=) | |
X | g.48688887G>A | CA412873401 | WAS | n.403G>A c.1159G>A (p.Gly387Arg) c.1003G>A (p.Gly335Arg) | gnomAD v4 |
X | g.48688887G>C | CA412873403 | WAS | n.403G>C c.1159G>C (p.Gly387Arg) c.1003G>C (p.Gly335Arg) | |
X | g.48688887G>T | CA412873405 | WAS | n.403G>T c.1159G>T (p.Gly387Ter) c.1003G>T (p.Gly335Ter) | gnomAD v4 |
X | g.48688888G>A | CA412873406 | WAS | n.404G>A c.1160G>A (p.Gly387Glu) c.1004G>A (p.Gly335Glu) | gnomAD v4 |
X | g.48688888G>C | CA412873407 | WAS | n.404G>C c.1160G>C (p.Gly387Ala) c.1004G>C (p.Gly335Ala) | |
X | g.48688888G>T | CA412873408 | WAS | n.404G>T c.1160G>T (p.Gly387Val) c.1004G>T (p.Gly335Val) | gnomAD v4 |
X | g.48688889A= | CA2428355733 | WAS | n.405A= c.1161A= (p.Gly387=) c.1005A= (p.Gly335=) | |
X | g.48688889A>C | CA516356305 | WAS | n.405A>C c.1161A>C (p.Gly387=) c.1005A>C (p.Gly335=) | |
X | g.48688889A>G | CA516356306 | WAS | n.405A>G c.1161A>G (p.Gly387=) c.1005A>G (p.Gly335=) | |
X | g.48688889A>T | CA329102333 | WAS | n.405A>T c.1161A>T (p.Gly387=) c.1005A>T (p.Gly335=) | dbSNP |
X | g.48688890G>A | CA412873411 | WAS | n.406G>A c.1162G>A (p.Ala388Thr) c.1006G>A (p.Ala336Thr) | gnomAD v4 |
X | g.48688890G>C | CA412873410 | WAS | n.406G>C c.1162G>C (p.Ala388Pro) c.1006G>C (p.Ala336Pro) | |
X | g.48688890G>T | CA412873409 | WAS | n.406G>T c.1162G>T (p.Ala388Ser) c.1006G>T (p.Ala336Ser) | gnomAD v4 |
X | g.48688891C>A | CA412873412 | WAS | n.407C>A c.1163C>A (p.Ala388Asp) c.1007C>A (p.Ala336Asp) | gnomAD v4 |
X | g.48688891C>G | CA412873413 | WAS | n.407C>G c.1163C>G (p.Ala388Gly) c.1007C>G (p.Ala336Gly) | gnomAD v4 |
X | g.48688891C>T | CA412873414 | WAS | n.407C>T c.1163C>T (p.Ala388Val) c.1007C>T (p.Ala336Val) | gnomAD v4 |
X | g.48688892T>A | CA516356310 | WAS | n.408T>A c.1164T>A (p.Ala388=) c.1008T>A (p.Ala336=) | |
X | g.48688892T>C | CA516356311 | WAS | n.408T>C c.1164T>C (p.Ala388=) c.1008T>C (p.Ala336=) | gnomAD v4 |
X | g.48688892T>G | CA516356312 | WAS | n.408T>G c.1164T>G (p.Ala388=) c.1008T>G (p.Ala336=) | |
X | g.48688893G>A | CA412873415 | WAS | n.409G>A c.1165G>A (p.Gly389Ser) c.1009G>A (p.Gly337Ser) | gnomAD v4 |
X | g.48688893G>C | CA412873416 | WAS | n.409G>C c.1165G>C (p.Gly389Arg) c.1009G>C (p.Gly337Arg) | |
X | g.48688893G>T | CA412873417 | WAS | n.409G>T c.1165G>T (p.Gly389Cys) c.1009G>T (p.Gly337Cys) | gnomAD v4 |
X | g.48688894G>A | CA412873418 | WAS | n.410G>A c.1166G>A (p.Gly389Asp) c.1010G>A (p.Gly337Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688894G>C | CA412873420 | WAS | n.410G>C c.1166G>C (p.Gly389Ala) c.1010G>C (p.Gly337Ala) | |
X | g.48688894G= | CA2428355734 | WAS | n.410G= c.1166G= (p.Gly389=) c.1010G= (p.Gly337=) | |
X | g.48688894G>T | CA412873419 | WAS | n.410G>T c.1166G>T (p.Gly389Val) c.1010G>T (p.Gly337Val) | gnomAD v4 |
X | g.48688895T>A | CA516356316 | WAS | n.411T>A c.1167T>A (p.Gly389=) c.1011T>A (p.Gly337=) | gnomAD v4 |
X | g.48688895T>C | CA516356317 | WAS | n.411T>C c.1167T>C (p.Gly389=) c.1011T>C (p.Gly337=) | gnomAD v4 |
X | g.48688895T>G | CA516356318 | WAS | n.411T>G c.1167T>G (p.Gly389=) c.1011T>G (p.Gly337=) | |
X | g.48688896G>A | CA412873421 | WAS | n.412G>A c.1168G>A (p.Gly390Arg) c.1012G>A (p.Gly338Arg) | |
X | g.48688896G>C | CA412873422 | WAS | n.412G>C c.1168G>C (p.Gly390Arg) c.1012G>C (p.Gly338Arg) | |
X | g.48688896G>T | CA412873423 | WAS | n.412G>T c.1168G>T (p.Gly390Trp) c.1012G>T (p.Gly338Trp) | gnomAD v4 |
X | g.48688897G>A | CA412873424 | WAS | n.413G>A c.1169G>A (p.Gly390Glu) c.1013G>A (p.Gly338Glu) | gnomAD v4 |
X | g.48688897G>C | CA412873425 | WAS | n.413G>C c.1169G>C (p.Gly390Ala) c.1013G>C (p.Gly338Ala) | |
X | g.48688897G>T | CA412873426 | WAS | n.413G>T c.1169G>T (p.Gly390Val) c.1013G>T (p.Gly338Val) | gnomAD v4 |
X | g.48688898G>A | CA516356320 | WAS | n.414G>A c.1170G>A (p.Gly390=) c.1014G>A (p.Gly338=) | dbSNP gnomAD v4 |
X | g.48688898G>C | CA516356321 | WAS | n.414G>C c.1170G>C (p.Gly390=) c.1014G>C (p.Gly338=) | |
X | g.48688898G= | CA2428355735 | WAS | n.414G= c.1170G= (p.Gly390=) c.1014G= (p.Gly338=) | |
X | g.48688898G>T | CA516356322 | WAS | n.414G>T c.1170G>T (p.Gly390=) c.1014G>T (p.Gly338=) | |
X | g.48688899C>A | CA412873427 | WAS | n.415C>A c.1171C>A (p.Pro391Thr) c.1015C>A (p.Pro339Thr) | gnomAD v4 |
X | g.48688899C>G | CA412873428 | WAS | n.415C>G c.1171C>G (p.Pro391Ala) c.1015C>G (p.Pro339Ala) | |
X | g.48688899C>T | CA412873429 | WAS | n.415C>T c.1171C>T (p.Pro391Ser) c.1015C>T (p.Pro339Ser) | gnomAD v4 |
X | g.48688901_48688903del | CA2499214011 | WAS | n.417_419del c.1173_1175del (p.Pro392del) c.1017_1019del (p.Pro340del) | gnomAD v4 |
X | g.48688900C>A | CA412873430 | WAS | n.416C>A c.1172C>A (p.Pro391Gln) c.1016C>A (p.Pro339Gln) | |
X | g.48688900C= | CA2428355736 | WAS | n.416C= c.1172C= (p.Pro391=) c.1016C= (p.Pro339=) | |
X | g.48688900C>G | CA412873431 | WAS | n.416C>G c.1172C>G (p.Pro391Arg) c.1016C>G (p.Pro339Arg) | |
X | g.48688900C>T | CA412873432 | WAS | n.416C>T c.1172C>T (p.Pro391Leu) c.1016C>T (p.Pro339Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688901A>C | CA516356326 | WAS | n.417A>C c.1173A>C (p.Pro391=) c.1017A>C (p.Pro339=) | dbSNP |
X | g.48688901A>G | CA516356327 | WAS | n.417A>G c.1173A>G (p.Pro391=) c.1017A>G (p.Pro339=) | |
X | g.48688901A>T | CA516356328 | WAS | n.417A>T c.1173A>T (p.Pro391=) c.1017A>T (p.Pro339=) | |
X | g.48688902C>A | CA329102334 | WAS | n.418C>A c.1174C>A (p.Pro392Thr) c.1018C>A (p.Pro340Thr) | ClinVar dbSNP gnomAD v4 |
X | g.48688902C= | CA2428355737 | WAS | n.418C= c.1174C= (p.Pro392=) c.1018C= (p.Pro340=) | |
X | g.48688902C>G | CA412873434 | WAS | n.418C>G c.1174C>G (p.Pro392Ala) c.1018C>G (p.Pro340Ala) | |
X | g.48688902C>T | CA412873433 | WAS | n.418C>T c.1174C>T (p.Pro392Ser) c.1018C>T (p.Pro340Ser) | gnomAD v4 |
X | g.48688904del | CA2693644932 | WAS | n.420del c.1176del (p.Met393CysfsTer?) c.1020del (p.Met341CysfsTer?) | gnomAD v4 |
X | g.48688903C>A | CA412873435 | WAS | n.419C>A c.1175C>A (p.Pro392His) c.1019C>A (p.Pro340His) | gnomAD v4 |
X | g.48688903C= | CA2428355738 | WAS | n.419C= c.1175C= (p.Pro392=) c.1019C= (p.Pro340=) | |
X | g.48688903C>G | CA412873437 | WAS | n.419C>G c.1175C>G (p.Pro392Arg) c.1019C>G (p.Pro340Arg) | gnomAD v4 |
X | g.48688903C>T | CA10404043 | WAS | n.419C>T c.1175C>T (p.Pro392Leu) c.1019C>T (p.Pro340Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48688904C>A | CA516356332 | WAS | n.420C>A c.1176C>A (p.Pro392=) c.1020C>A (p.Pro340=) | |
X | g.48688904C>G | CA516356333 | WAS | n.420C>G c.1176C>G (p.Pro392=) c.1020C>G (p.Pro340=) | |
X | g.48688904C>T | CA516356331 | WAS | n.420C>T c.1176C>T (p.Pro392=) c.1020C>T (p.Pro340=) | |
X | g.48688905A>C | CA412873438 | WAS | n.421A>C c.1177A>C (p.Met393Leu) c.1021A>C (p.Met341Leu) | dbSNP |
X | g.48688905A>G | CA412873439 | WAS | n.421A>G c.1177A>G (p.Met393Val) c.1021A>G (p.Met341Val) | |
X | g.48688905A>T | CA412873440 | WAS | n.421A>T c.1177A>T (p.Met393Leu) c.1021A>T (p.Met341Leu) | |
X | g.48688906T>A | CA412873441 | WAS | n.422T>A c.1178T>A (p.Met393Lys) c.1022T>A (p.Met341Lys) | |
X | g.48688906T>C | CA412873442 | WAS | n.422T>C c.1178T>C (p.Met393Thr) c.1022T>C (p.Met341Thr) | |
X | g.48688906T>G | CA412873443 | WAS | n.422T>G c.1178T>G (p.Met393Arg) c.1022T>G (p.Met341Arg) | |
X | g.48688906dup | CA2695233783 | WAS | n.422dup c.1178dup (p.Met393IlefsTer?) c.1022dup (p.Met341IlefsTer?) | |
X | g.48688907G>A | CA412873444 | WAS | n.423G>A c.1179G>A (p.Met393Ile) c.1023G>A (p.Met341Ile) | gnomAD v4 |
X | g.48688907G>C | CA412873445 | WAS | n.423G>C c.1179G>C (p.Met393Ile) c.1023G>C (p.Met341Ile) | gnomAD v4 |
X | g.48688907G= | CA2428355740 | WAS | n.423G= c.1179G= (p.Met393=) c.1023G= (p.Met341=) | |
X | g.48688907G>T | CA412873446 | WAS | n.423G>T c.1179G>T (p.Met393Ile) c.1023G>T (p.Met341Ile) | gnomAD v4 |
X | g.48688907_48688912dup | CA2693644933 | WAS | n.423_428dup c.1179_1184dup (p.Pro395_Pro396insProPro) c.1023_1028dup (p.Pro343_Pro344insProPro) | gnomAD v4 |
X | g.48688907_48688915dup | CA2740092136 | WAS | n.423_431dup c.1179_1187dup (p.Pro396_Pro397insProProPro) c.1023_1031dup (p.Pro344_Pro345insProProPro) | ClinVar |
X | g.48688907_48688916delinsGCCACCACCA | CA2428355739 | WAS | n.423_432delinsGCCACCACCA c.1179_1188delinsGCCACCACCA (p.Met393=) c.1023_1032delinsGCCACCACCA (p.Met341=) | |
X | g.48688916_48688927dup | CA2693644934 | WAS | n.432_443dup c.1188_1199dup (p.Pro400_Pro401insProProProPro) c.1032_1043dup (p.Pro348_Pro349insProProProPro) | gnomAD v4 |
X | g.48688916_48688927del | CA2695233784 | WAS | n.432_443del c.1188_1199del (p.Pro397_Pro400del) c.1032_1043del (p.Pro345_Pro348del) | |
X | g.48688908C>A | CA412873449 | WAS | n.424C>A c.1180C>A (p.Pro394Thr) c.1024C>A (p.Pro342Thr) | gnomAD v4 |
X | g.48688908C= | CA2428355741 | WAS | n.424C= c.1180C= (p.Pro394=) c.1024C= (p.Pro342=) | |
X | g.48688908C>G | CA412873447 | WAS | n.424C>G c.1180C>G (p.Pro394Ala) c.1024C>G (p.Pro342Ala) | |
X | g.48688908C>T | CA412873448 | WAS | n.424C>T c.1180C>T (p.Pro394Ser) c.1024C>T (p.Pro342Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48688909_48688910insTCC | CA2428355742 | WAS | n.425_426insTCC c.1181_1182insTCC (p.Pro394_Pro395insPro) c.1025_1026insTCC (p.Pro342_Pro343insPro) | dbSNP |
X | g.48688910_48688918dup | CA2428355744 | WAS | n.426_434dup c.1182_1190dup (p.Pro397_Pro398insProProPro) c.1026_1034dup (p.Pro345_Pro346insProProPro) | dbSNP gnomAD v4 |
X | g.48688916_48688918del | CA641901768 | WAS | n.432_434del c.1188_1190del (p.Pro397del) c.1032_1034del (p.Pro345del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48688910_48688918del | CA2428355743 | WAS | n.426_434del c.1182_1190del (p.Pro395_Pro397del) c.1026_1034del (p.Pro343_Pro345del) | dbSNP gnomAD v4 |
X | g.48688913_48688927del | CA516356337 | WAS | n.429_443del c.1185_1199del (p.Pro396_Pro400del) c.1029_1043del (p.Pro344_Pro348del) | |
X | g.48688909C>A | CA412873450 | WAS | n.425C>A c.1181C>A (p.Pro394Gln) c.1025C>A (p.Pro342Gln) | gnomAD v4 |
X | g.48688909C= | CA2428355745 | WAS | n.425C= c.1181C= (p.Pro394=) c.1025C= (p.Pro342=) | |
X | g.48688909C>G | CA412873451 | WAS | n.425C>G c.1181C>G (p.Pro394Arg) c.1025C>G (p.Pro342Arg) | |
X | g.48688909C>T | CA10404044 | WAS | n.425C>T c.1181C>T (p.Pro394Leu) c.1025C>T (p.Pro342Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688910A= | CA2428355747 | WAS | n.426A= c.1182A= (p.Pro394=) c.1026A= (p.Pro342=) | |
X | g.48688910A>C | CA516356342 | WAS | n.426A>C c.1182A>C (p.Pro394=) c.1026A>C (p.Pro342=) | dbSNP |
X | g.48688910A>G | CA516356343 | WAS | n.426A>G c.1182A>G (p.Pro394=) c.1026A>G (p.Pro342=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688910A>T | CA516356344 | WAS | n.426A>T c.1182A>T (p.Pro394=) c.1026A>T (p.Pro342=) | |
X | g.48688910_48688919delinsACCACCACCG | CA2428355746 | WAS | n.426_435delinsACCACCACCG c.1182_1191delinsACCACCACCG (p.Pro394=) c.1026_1035delinsACCACCACCG (p.Pro342=) | |
X | g.48688911C>A | CA412873452 | WAS | n.427C>A c.1183C>A (p.Pro395Thr) c.1027C>A (p.Pro343Thr) | |
X | g.48688911C= | CA2428355748 | WAS | n.427C= c.1183C= (p.Pro395=) c.1027C= (p.Pro343=) | |
X | g.48688911C>G | CA412873453 | WAS | n.427C>G c.1183C>G (p.Pro395Ala) c.1027C>G (p.Pro343Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48688911C>T | CA412873454 | WAS | n.427C>T c.1183C>T (p.Pro395Ser) c.1027C>T (p.Pro343Ser) | gnomAD v4 |
X | g.48688911_48688918dup | CA16043275 | WAS | n.427_434dup c.1183_1190dup (p.Pro398HisfsTer?) c.1027_1034dup (p.Pro346HisfsTer?) | ClinVar dbSNP |
X | g.48688925_48688933dup | CA10404045 | WAS | n.441_449dup c.1197_1205dup (p.Pro402_Pro403insProProPro) c.1041_1049dup (p.Pro350_Pro351insProProPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688925_48688933del | CA342890 | WAS | n.441_449del c.1197_1205del (p.Pro400_Pro402del) c.1041_1049del (p.Pro348_Pro350del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688912C>A | CA412873455 | WAS | n.428C>A c.1184C>A (p.Pro395Gln) c.1028C>A (p.Pro343Gln) | gnomAD v4 |
X | g.48688912C>G | CA412873456 | WAS | n.428C>G c.1184C>G (p.Pro395Arg) c.1028C>G (p.Pro343Arg) | |
X | g.48688912C>T | CA412873457 | WAS | n.428C>T c.1184C>T (p.Pro395Leu) c.1028C>T (p.Pro343Leu) | gnomAD v4 |
X | g.48688913del | CA2738505179 | WAS | n.429del c.1185del (p.Pro396HisfsTer?) c.1029del (p.Pro344HisfsTer?) | dbSNP |
X | g.48688913A>C | CA516356351 | WAS | n.429A>C c.1185A>C (p.Pro395=) c.1029A>C (p.Pro343=) | dbSNP |
X | g.48688913A>G | CA516356352 | WAS | n.429A>G c.1185A>G (p.Pro395=) c.1029A>G (p.Pro343=) | |
X | g.48688913A>T | CA516356353 | WAS | n.429A>T c.1185A>T (p.Pro395=) c.1029A>T (p.Pro343=) | gnomAD v4 |
X | g.48688914C>A | CA412873460 | WAS | n.430C>A c.1186C>A (p.Pro396Thr) c.1030C>A (p.Pro344Thr) | gnomAD v4 |
X | g.48688914C>G | CA412873458 | WAS | n.430C>G c.1186C>G (p.Pro396Ala) c.1030C>G (p.Pro344Ala) | |
X | g.48688914C>T | CA412873459 | WAS | n.430C>T c.1186C>T (p.Pro396Ser) c.1030C>T (p.Pro344Ser) | gnomAD v4 |
X | g.48688922_48688936del | CA2693644960 | WAS | n.438_452del c.1194_1208del (p.Pro399_Pro403del) c.1038_1052del (p.Pro347_Pro351del) | gnomAD v4 |
X | g.48688915C>A | CA412873461 | WAS | n.431C>A c.1187C>A (p.Pro396Gln) c.1031C>A (p.Pro344Gln) | ClinVar gnomAD v4 |
X | g.48688915C= | CA2428355749 | WAS | n.431C= c.1187C= (p.Pro396=) c.1031C= (p.Pro344=) | |
X | g.48688915C>G | CA412873462 | WAS | n.431C>G c.1187C>G (p.Pro396Arg) c.1031C>G (p.Pro344Arg) | |
X | g.48688915C>T | CA412873463 | WAS | n.431C>T c.1187C>T (p.Pro396Leu) c.1031C>T (p.Pro344Leu) | dbSNP gnomAD v2 |
X | g.48688916A= | CA2428355750 | WAS | n.432A= c.1188A= (p.Pro396=) c.1032A= (p.Pro344=) | |
X | g.48688916A>C | CA516356357 | WAS | n.432A>C c.1188A>C (p.Pro396=) c.1032A>C (p.Pro344=) | ClinVar dbSNP |
X | g.48688916A>G | CA516356358 | WAS | n.432A>G c.1188A>G (p.Pro396=) c.1032A>G (p.Pro344=) | gnomAD v4 |
X | g.48688916A>T | CA516356359 | WAS | n.432A>T c.1188A>T (p.Pro396=) c.1032A>T (p.Pro344=) | |
X | g.48688917C>A | CA412873464 | WAS | n.433C>A c.1189C>A (p.Pro397Thr) c.1033C>A (p.Pro345Thr) | gnomAD v4 |
X | g.48688917C>G | CA412873466 | WAS | n.433C>G c.1189C>G (p.Pro397Ala) c.1033C>G (p.Pro345Ala) | |
X | g.48688917C>T | CA412873465 | WAS | n.433C>T c.1189C>T (p.Pro397Ser) c.1033C>T (p.Pro345Ser) | gnomAD v4 |
X | g.48688918del | CA2695233785 | WAS | n.434del c.1190del (p.Pro397ArgfsTer?) c.1034del (p.Pro345ArgfsTer?) | |
X | g.48688918C>A | CA412873467 | WAS | n.434C>A c.1190C>A (p.Pro397Gln) c.1034C>A (p.Pro345Gln) | gnomAD v4 |
X | g.48688918C= | CA2428355751 | WAS | n.434C= c.1190C= (p.Pro397=) c.1034C= (p.Pro345=) | |
X | g.48688918C>G | CA412873468 | WAS | n.434C>G c.1190C>G (p.Pro397Arg) c.1034C>G (p.Pro345Arg) | |
X | g.48688918C>T | CA412873469 | WAS | n.434C>T c.1190C>T (p.Pro397Leu) c.1034C>T (p.Pro345Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688919G>A | CA10404046 | WAS | n.435G>A c.1191G>A (p.Pro397=) c.1035G>A (p.Pro345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688919G>C | CA516356363 | WAS | n.435G>C c.1191G>C (p.Pro397=) c.1035G>C (p.Pro345=) | ClinVar dbSNP gnomAD v4 |
X | g.48688919G= | CA2428355752 | WAS | n.435G= c.1191G= (p.Pro397=) c.1035G= (p.Pro345=) | |
X | g.48688919G>T | CA516356364 | WAS | n.435G>T c.1191G>T (p.Pro397=) c.1035G>T (p.Pro345=) | gnomAD v4 |
X | g.48688920C>A | CA412873470 | WAS | n.436C>A c.1192C>A (p.Pro398Thr) c.1036C>A (p.Pro346Thr) | gnomAD v4 |
X | g.48688920C>G | CA412873471 | WAS | n.436C>G c.1192C>G (p.Pro398Ala) c.1036C>G (p.Pro346Ala) | |
X | g.48688920C>T | CA412873472 | WAS | n.436C>T c.1192C>T (p.Pro398Ser) c.1036C>T (p.Pro346Ser) | |
X | g.48688921C>A | CA412873473 | WAS | n.437C>A c.1193C>A (p.Pro398Gln) c.1037C>A (p.Pro346Gln) | gnomAD v4 |
X | g.48688921C>G | CA412873474 | WAS | n.437C>G c.1193C>G (p.Pro398Arg) c.1037C>G (p.Pro346Arg) | |
X | g.48688921C>T | CA412873475 | WAS | n.437C>T c.1193C>T (p.Pro398Leu) c.1037C>T (p.Pro346Leu) | |
X | g.48688922A= | CA2428355753 | WAS | n.438A= c.1194A= (p.Pro398=) c.1038A= (p.Pro346=) | |
X | g.48688922A>C | CA516356369 | WAS | n.438A>C c.1194A>C (p.Pro398=) c.1038A>C (p.Pro346=) | dbSNP gnomAD v4 |
X | g.48688922A>G | CA10404047 | WAS | n.438A>G c.1194A>G (p.Pro398=) c.1038A>G (p.Pro346=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48688922A>T | CA516356370 | WAS | n.438A>T c.1194A>T (p.Pro398=) c.1038A>T (p.Pro346=) | |
X | g.48688923C>A | CA412873476 | WAS | n.439C>A c.1195C>A (p.Pro399Thr) c.1039C>A (p.Pro347Thr) | |
X | g.48688923C>G | CA412873478 | WAS | n.439C>G c.1195C>G (p.Pro399Ala) c.1039C>G (p.Pro347Ala) | |
X | g.48688923C>T | CA412873477 | WAS | n.439C>T c.1195C>T (p.Pro399Ser) c.1039C>T (p.Pro347Ser) | gnomAD v4 |
X | g.48688931_48688936dup | CA2693644986 | WAS | n.447_452dup c.1203_1208dup (p.Pro403_Pro404insProPro) c.1047_1052dup (p.Pro351_Pro352insProPro) | gnomAD v4 |
X | g.48688931_48688936del | CA2693644988 | WAS | n.447_452del c.1203_1208del (p.Pro402_Pro403del) c.1047_1052del (p.Pro350_Pro351del) | gnomAD v4 |
X | g.48688924C>A | CA412873479 | WAS | n.440C>A c.1196C>A (p.Pro399Gln) c.1040C>A (p.Pro347Gln) | |
X | g.48688924C= | CA2428355754 | WAS | n.440C= c.1196C= (p.Pro399=) c.1040C= (p.Pro347=) | |
X | g.48688924C>G | CA412873480 | WAS | n.440C>G c.1196C>G (p.Pro399Arg) c.1040C>G (p.Pro347Arg) | ClinVar dbSNP |
X | g.48688924C>T | CA412873481 | WAS | n.440C>T c.1196C>T (p.Pro399Leu) c.1040C>T (p.Pro347Leu) | |
X | g.48688925A= | CA2428355755 | WAS | n.441A= c.1197A= (p.Pro399=) c.1041A= (p.Pro347=) | |
X | g.48688925A>C | CA516356374 | WAS | n.441A>C c.1197A>C (p.Pro399=) c.1041A>C (p.Pro347=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48688925A>G | CA516356375 | WAS | n.441A>G c.1197A>G (p.Pro399=) c.1041A>G (p.Pro347=) | ClinVar dbSNP gnomAD v4 |
X | g.48688925A>T | CA516356376 | WAS | n.441A>T c.1197A>T (p.Pro399=) c.1041A>T (p.Pro347=) | |
X | g.48688926C>A | CA412873482 | WAS | n.442C>A c.1198C>A (p.Pro400Thr) c.1042C>A (p.Pro348Thr) | |
X | g.48688926C= | CA2428355757 | WAS | n.442C= c.1198C= (p.Pro400=) c.1042C= (p.Pro348=) | |
X | g.48688926C>G | CA412873483 | WAS | n.442C>G c.1198C>G (p.Pro400Ala) c.1042C>G (p.Pro348Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688926C>T | CA412873484 | WAS | n.442C>T c.1198C>T (p.Pro400Ser) c.1042C>T (p.Pro348Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48688931_48688939dup | CA2428355756 | WAS | n.447_455dup c.1203_1211dup (p.Pro404_Ser405insProProPro) c.1047_1055dup (p.Pro352_Ser353insProProPro) | ClinVar dbSNP gnomAD v4 |
X | g.48688927C>A | CA412873485 | WAS | n.443C>A c.1199C>A (p.Pro400Gln) c.1043C>A (p.Pro348Gln) | |
X | g.48688927C= | CA2428355758 | WAS | n.443C= c.1199C= (p.Pro400=) c.1043C= (p.Pro348=) | |
X | g.48688927C>G | CA412873486 | WAS | n.443C>G c.1199C>G (p.Pro400Arg) c.1043C>G (p.Pro348Arg) | |
X | g.48688927C>T | CA10404048 | WAS | n.443C>T c.1199C>T (p.Pro400Leu) c.1043C>T (p.Pro348Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688928G>A | CA10404049 | WAS | n.444G>A c.1200G>A (p.Pro400=) c.1044G>A (p.Pro348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688928G>C | CA516356380 | WAS | n.444G>C c.1200G>C (p.Pro400=) c.1044G>C (p.Pro348=) | dbSNP |
X | g.48688928G= | CA2428355759 | WAS | n.444G= c.1200G= (p.Pro400=) c.1044G= (p.Pro348=) | |
X | g.48688928G>T | CA516356381 | WAS | n.444G>T c.1200G>T (p.Pro400=) c.1044G>T (p.Pro348=) | |
X | g.48688929C>A | CA412873487 | WAS | n.445C>A c.1201C>A (p.Pro401Thr) c.1045C>A (p.Pro349Thr) | |
X | g.48688929C>G | CA412873489 | WAS | n.445C>G c.1201C>G (p.Pro401Ala) c.1045C>G (p.Pro349Ala) | |
X | g.48688929C>T | CA412873488 | WAS | n.445C>T c.1201C>T (p.Pro401Ser) c.1045C>T (p.Pro349Ser) | |
X | g.48688932_48688941del | CA2695233786 | WAS | n.448_457del c.1204_1213del (p.Pro402AlafsTer?) c.1048_1057del (p.Pro350AlafsTer?) | |
X | g.48688930C>A | CA412873490 | WAS | n.446C>A c.1202C>A (p.Pro401Gln) c.1046C>A (p.Pro349Gln) | gnomAD v4 |
X | g.48688930C>G | CA412873491 | WAS | n.446C>G c.1202C>G (p.Pro401Arg) c.1046C>G (p.Pro349Arg) | |
X | g.48688930C>T | CA412873492 | WAS | n.446C>T c.1202C>T (p.Pro401Leu) c.1046C>T (p.Pro349Leu) | |
X | g.48688931del | CA2580101064 | WAS | n.447del c.1203del (p.Pro402ArgfsTer?) c.1047del (p.Pro350ArgfsTer?) | ClinVar |
X | g.48688931A= | CA2428355760 | WAS | n.447A= c.1203A= (p.Pro401=) c.1047A= (p.Pro349=) | |
X | g.48688931A>C | CA516356384 | WAS | n.447A>C c.1203A>C (p.Pro401=) c.1047A>C (p.Pro349=) | dbSNP |
X | g.48688931A>G | CA10404050 | WAS | n.447A>G c.1203A>G (p.Pro401=) c.1047A>G (p.Pro349=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48688931A>T | CA516356385 | WAS | n.447A>T c.1203A>T (p.Pro401=) c.1047A>T (p.Pro349=) | |
X | g.48688932C>A | CA412873493 | WAS | n.448C>A c.1204C>A (p.Pro402Thr) c.1048C>A (p.Pro350Thr) | |
X | g.48688932C>G | CA412873494 | WAS | n.448C>G c.1204C>G (p.Pro402Ala) c.1048C>G (p.Pro350Ala) | |
X | g.48688932C>T | CA412873495 | WAS | n.448C>T c.1204C>T (p.Pro402Ser) c.1048C>T (p.Pro350Ser) | |
X | g.48688934_48688939dup | CA2693645009 | WAS | n.450_455dup c.1206_1211dup (p.Pro404_Ser405insProPro) c.1050_1055dup (p.Pro352_Ser353insProPro) | gnomAD v4 |
X | g.48688934_48688939del | CA2579600725 | WAS | n.450_455del c.1206_1211del (p.Pro403_Pro404del) c.1050_1055del (p.Pro351_Pro352del) | |
X | g.48688933C>A | CA412873496 | WAS | n.449C>A c.1205C>A (p.Pro402Gln) c.1049C>A (p.Pro350Gln) | |
X | g.48688933C= | CA2428355761 | WAS | n.449C= c.1205C= (p.Pro402=) c.1049C= (p.Pro350=) | |
X | g.48688933C>G | CA412873497 | WAS | n.449C>G c.1205C>G (p.Pro402Arg) c.1049C>G (p.Pro350Arg) | |
X | g.48688933C>T | CA412873498 | WAS | n.449C>T c.1205C>T (p.Pro402Leu) c.1049C>T (p.Pro350Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48688934G>A | CA516356389 | WAS | n.450G>A c.1206G>A (p.Pro402=) c.1050G>A (p.Pro350=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688934G>C | CA516356390 | WAS | n.450G>C c.1206G>C (p.Pro402=) c.1050G>C (p.Pro350=) | dbSNP |
X | g.48688934G= | CA2428355762 | WAS | n.450G= c.1206G= (p.Pro402=) c.1050G= (p.Pro350=) | |
X | g.48688934G>T | CA516356391 | WAS | n.450G>T c.1206G>T (p.Pro402=) c.1050G>T (p.Pro350=) | |
X | g.48688935C>A | CA412873499 | WAS | n.451C>A c.1207C>A (p.Pro403Thr) c.1051C>A (p.Pro351Thr) | gnomAD v4 |
X | g.48688935C>G | CA412873500 | WAS | n.451C>G c.1207C>G (p.Pro403Ala) c.1051C>G (p.Pro351Ala) | |
X | g.48688935C>T | CA412873501 | WAS | n.451C>T c.1207C>T (p.Pro403Ser) c.1051C>T (p.Pro351Ser) | |
X | g.48688936C>A | CA412873502 | WAS | n.452C>A c.1208C>A (p.Pro403Gln) c.1052C>A (p.Pro351Gln) | gnomAD v4 |
X | g.48688936C= | CA2428355763 | WAS | n.452C= c.1208C= (p.Pro403=) c.1052C= (p.Pro351=) | |
X | g.48688936C>G | CA412873503 | WAS | n.452C>G c.1208C>G (p.Pro403Arg) c.1052C>G (p.Pro351Arg) | |
X | g.48688936C>T | CA10404051 | WAS | n.452C>T c.1208C>T (p.Pro403Leu) c.1052C>T (p.Pro351Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688937G>A | CA10404052 | WAS | n.453G>A c.1209G>A (p.Pro403=) c.1053G>A (p.Pro351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48688937G>C | CA516356395 | WAS | n.453G>C c.1209G>C (p.Pro403=) c.1053G>C (p.Pro351=) | dbSNP |
X | g.48688937G= | CA2428355764 | WAS | n.453G= c.1209G= (p.Pro403=) c.1053G= (p.Pro351=) | |
X | g.48688937G>T | CA516356396 | WAS | n.453G>T c.1209G>T (p.Pro403=) c.1053G>T (p.Pro351=) | |
X | g.48688938C>A | CA412873504 | WAS | n.454C>A c.1210C>A (p.Pro404Thr) c.1054C>A (p.Pro352Thr) | |
X | g.48688938C>G | CA412873505 | WAS | n.454C>G c.1210C>G (p.Pro404Ala) c.1054C>G (p.Pro352Ala) | |
X | g.48688938C>T | CA412873506 | WAS | n.454C>T c.1210C>T (p.Pro404Ser) c.1054C>T (p.Pro352Ser) | |
X | g.48688939C>A | CA412873507 | WAS | n.455C>A c.1211C>A (p.Pro404His) c.1055C>A (p.Pro352His) | |
X | g.48688939C= | CA2428355765 | WAS | n.455C= c.1211C= (p.Pro404=) c.1055C= (p.Pro352=) | |
X | g.48688939C>G | CA412873508 | WAS | n.455C>G c.1211C>G (p.Pro404Arg) c.1055C>G (p.Pro352Arg) | gnomAD v4 |
X | g.48688939C>T | CA412873509 | WAS | n.455C>T c.1211C>T (p.Pro404Leu) c.1055C>T (p.Pro352Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48688939_48688940insGC | CA2695233787 | WAS | n.455_456insGC c.1211_1212insGC (p.Ser405ProfsTer?) c.1055_1056insGC (p.Ser353ProfsTer?) | |
X | g.48688940C>A | CA516356402 | WAS | n.456C>A c.1212C>A (p.Pro404=) c.1056C>A (p.Pro352=) | |
X | g.48688940C>G | CA516356401 | WAS | n.456C>G c.1212C>G (p.Pro404=) c.1056C>G (p.Pro352=) | |
X | g.48688940C>T | CA516356400 | WAS | n.456C>T c.1212C>T (p.Pro404=) c.1056C>T (p.Pro352=) | |
X | g.48688941A>C | CA412873510 | WAS | n.457A>C c.1213A>C (p.Ser405Arg) c.1057A>C (p.Ser353Arg) | dbSNP |
X | g.48688941A>G | CA412873511 | WAS | n.457A>G c.1213A>G (p.Ser405Gly) c.1057A>G (p.Ser353Gly) | |
X | g.48688941A>T | CA412873512 | WAS | n.457A>T c.1213A>T (p.Ser405Cys) c.1057A>T (p.Ser353Cys) | |
X | g.48688942G>A | CA412873514 | WAS | n.458G>A c.1214G>A (p.Ser405Asn) c.1058G>A (p.Ser353Asn) | |
X | g.48688942G>C | CA412873515 | WAS | n.458G>C c.1214G>C (p.Ser405Thr) c.1058G>C (p.Ser353Thr) | dbSNP |
X | g.48688942G>T | CA412873513 | WAS | n.458G>T c.1214G>T (p.Ser405Ile) c.1058G>T (p.Ser353Ile) | |
X | g.48688943C>A | CA412873516 | WAS | n.459C>A c.1215C>A (p.Ser405Arg) c.1059C>A (p.Ser353Arg) | gnomAD v4 |
X | g.48688943C>G | CA412873517 | WAS | n.459C>G c.1215C>G (p.Ser405Arg) c.1059C>G (p.Ser353Arg) | |
X | g.48688943C>T | CA516356407 | WAS | n.459C>T c.1215C>T (p.Ser405=) c.1059C>T (p.Ser353=) | |
X | g.48688944T>A | CA412873518 | WAS | n.460T>A c.1216T>A (p.Ser406Thr) c.1060T>A (p.Ser354Thr) | dbSNP |
X | g.48688944T>C | CA412873519 | WAS | n.460T>C c.1216T>C (p.Ser406Pro) c.1060T>C (p.Ser354Pro) | |
X | g.48688944T>G | CA412873520 | WAS | n.460T>G c.1216T>G (p.Ser406Ala) c.1060T>G (p.Ser354Ala) | |
X | g.48688944T= | CA2428355766 | WAS | n.460T= c.1216T= (p.Ser406=) c.1060T= (p.Ser354=) | |
X | g.48688945C>A | CA412873523 | WAS | n.461C>A c.1217C>A (p.Ser406Tyr) c.1061C>A (p.Ser354Tyr) | |
X | g.48688945C>G | CA412873522 | WAS | n.461C>G c.1217C>G (p.Ser406Cys) c.1061C>G (p.Ser354Cys) | |
X | g.48688945C>T | CA412873521 | WAS | n.461C>T c.1217C>T (p.Ser406Phe) c.1061C>T (p.Ser354Phe) | |
X | g.48688947_48688963dup | CA16621419 | WAS | n.463_479dup c.1219_1235dup (p.Pro413GlyfsTer?) c.1063_1079dup (p.Pro361GlyfsTer?) | ClinVar dbSNP |
X | g.48688947_48688963del | CA2695233788 | WAS | n.463_479del c.1219_1235del (p.Gly407SerfsTer?) c.1063_1079del (p.Gly355SerfsTer?) | |
X | g.48688946C>A | CA516356411 | WAS | n.462C>A c.1218C>A (p.Ser406=) c.1062C>A (p.Ser354=) | gnomAD v4 |
X | g.48688946C= | CA2428355767 | WAS | n.462C= c.1218C= (p.Ser406=) c.1062C= (p.Ser354=) | |
X | g.48688946C>G | CA516356412 | WAS | n.462C>G c.1218C>G (p.Ser406=) c.1062C>G (p.Ser354=) | |
X | g.48688946C>T | CA10404053 | WAS | n.462C>T c.1218C>T (p.Ser406=) c.1062C>T (p.Ser354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688947G>A | CA10404054 | WAS | n.463G>A c.1219G>A (p.Gly407Arg) c.1063G>A (p.Gly355Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688947G>C | CA412873524 | WAS | n.463G>C c.1219G>C (p.Gly407Arg) c.1063G>C (p.Gly355Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48688947G= | CA2428355768 | WAS | n.463G= c.1219G= (p.Gly407=) c.1063G= (p.Gly355=) | |
X | g.48688947G>T | CA412873525 | WAS | n.463G>T c.1219G>T (p.Gly407Trp) c.1063G>T (p.Gly355Trp) | gnomAD v4 |
X | g.48688948_48688949dup | CA2695233789 | WAS | n.464_465dup c.1220_1221dup (p.Asn408GlyfsTer?) c.1064_1065dup (p.Asn356GlyfsTer?) | |
X | g.48688949del | CA2580101065 | WAS | n.465del c.1221del (p.Asn408MetfsTer?) c.1065del (p.Asn356MetfsTer?) | ClinVar |
X | g.48688948G>A | CA412873526 | WAS | n.464G>A c.1220G>A (p.Gly407Glu) c.1064G>A (p.Gly355Glu) | |
X | g.48688948G>C | CA412873527 | WAS | n.464G>C c.1220G>C (p.Gly407Ala) c.1064G>C (p.Gly355Ala) | |
X | g.48688948G>T | CA412873528 | WAS | n.464G>T c.1220G>T (p.Gly407Val) c.1064G>T (p.Gly355Val) | gnomAD v4 |
X | g.48688949G>A | CA516356416 | WAS | n.465G>A c.1221G>A (p.Gly407=) c.1065G>A (p.Gly355=) | |
X | g.48688949G>C | CA516356417 | WAS | n.465G>C c.1221G>C (p.Gly407=) c.1065G>C (p.Gly355=) | |
X | g.48688949G>T | CA516356418 | WAS | n.465G>T c.1221G>T (p.Gly407=) c.1065G>T (p.Gly355=) | |
X | g.48688950A>C | CA412873529 | WAS | n.466A>C c.1222A>C (p.Asn408His) c.1066A>C (p.Asn356His) | |
X | g.48688950A>G | CA412873531 | WAS | n.466A>G c.1222A>G (p.Asn408Asp) c.1066A>G (p.Asn356Asp) | |
X | g.48688950A>T | CA412873530 | WAS | n.466A>T c.1222A>T (p.Asn408Tyr) c.1066A>T (p.Asn356Tyr) | gnomAD v4 |
X | g.48688951A>C | CA412873532 | WAS | n.467A>C c.1223A>C (p.Asn408Thr) c.1067A>C (p.Asn356Thr) | |
X | g.48688951A>G | CA412873533 | WAS | n.467A>G c.1223A>G (p.Asn408Ser) c.1067A>G (p.Asn356Ser) | |
X | g.48688951A>T | CA412873534 | WAS | n.467A>T c.1223A>T (p.Asn408Ile) c.1067A>T (p.Asn356Ile) | |
X | g.48688951_48688952del | CA2695233790 | WAS | n.467_468del c.1223_1224del (p.Asn408ArgfsTer?) c.1067_1068del (p.Asn356ArgfsTer?) | |
X | g.48688952T>A | CA412873535 | WAS | n.468T>A c.1224T>A (p.Asn408Lys) c.1068T>A (p.Asn356Lys) | |
X | g.48688952T>C | CA516356422 | WAS | n.468T>C c.1224T>C (p.Asn408=) c.1068T>C (p.Asn356=) | |
X | g.48688952T>G | CA412873536 | WAS | n.468T>G c.1224T>G (p.Asn408Lys) c.1068T>G (p.Asn356Lys) | |
X | g.48688953G>A | CA412873537 | WAS | n.469G>A c.1225G>A (p.Gly409Arg) c.1069G>A (p.Gly357Arg) | gnomAD v4 |
X | g.48688953G>C | CA412873538 | WAS | n.469G>C c.1225G>C (p.Gly409Arg) c.1069G>C (p.Gly357Arg) | |
X | g.48688953G>T | CA412873539 | WAS | n.469G>T c.1225G>T (p.Gly409Ter) c.1069G>T (p.Gly357Ter) | gnomAD v4 |
X | g.48688954G>A | CA10404055 | WAS | n.470G>A c.1226G>A (p.Gly409Glu) c.1070G>A (p.Gly357Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48688954G>C | CA412873540 | WAS | n.470G>C c.1226G>C (p.Gly409Ala) c.1070G>C (p.Gly357Ala) | |
X | g.48688954G= | CA2428355769 | WAS | n.470G= c.1226G= (p.Gly409=) c.1070G= (p.Gly357=) | |
X | g.48688954G>T | CA412873541 | WAS | n.470G>T c.1226G>T (p.Gly409Val) c.1070G>T (p.Gly357Val) | |
X | g.48688955A= | CA2428355770 | WAS | n.471A= c.1227A= (p.Gly409=) c.1071A= (p.Gly357=) | |
X | g.48688955A>C | CA10404056 | WAS | n.471A>C c.1227A>C (p.Gly409=) c.1071A>C (p.Gly357=) | dbSNP ExAC gnomAD v4 |
X | g.48688955A>G | CA516356426 | WAS | n.471A>G c.1227A>G (p.Gly409=) c.1071A>G (p.Gly357=) | |
X | g.48688955A>T | CA516356427 | WAS | n.471A>T c.1227A>T (p.Gly409=) c.1071A>T (p.Gly357=) | |
X | g.48688956C>A | CA412873542 | WAS | n.472C>A c.1228C>A (p.Pro410Thr) c.1072C>A (p.Pro358Thr) | |
X | g.48688956C>G | CA412873544 | WAS | n.472C>G c.1228C>G (p.Pro410Ala) c.1072C>G (p.Pro358Ala) | |
X | g.48688956C>T | CA412873543 | WAS | n.472C>T c.1228C>T (p.Pro410Ser) c.1072C>T (p.Pro358Ser) | |
X | g.48688957C>A | CA412873545 | WAS | n.473C>A c.1229C>A (p.Pro410Gln) c.1073C>A (p.Pro358Gln) | gnomAD v4 |
X | g.48688957C= | CA2428355771 | WAS | n.473C= c.1229C= (p.Pro410=) c.1073C= (p.Pro358=) | |
X | g.48688957C>G | CA412873546 | WAS | n.473C>G c.1229C>G (p.Pro410Arg) c.1073C>G (p.Pro358Arg) | ClinVar dbSNP |
X | g.48688957C>T | CA412873547 | WAS | n.473C>T c.1229C>T (p.Pro410Leu) c.1073C>T (p.Pro358Leu) | |
X | g.48688958A>C | CA516356431 | WAS | n.474A>C c.1230A>C (p.Pro410=) c.1074A>C (p.Pro358=) | |
X | g.48688958A>G | CA516356432 | WAS | n.474A>G c.1230A>G (p.Pro410=) c.1074A>G (p.Pro358=) | |
X | g.48688958A>T | CA516356433 | WAS | n.474A>T c.1230A>T (p.Pro410=) c.1074A>T (p.Pro358=) | |
X | g.48688959G>A | CA412873548 | WAS | n.475G>A c.1231G>A (p.Ala411Thr) c.1075G>A (p.Ala359Thr) | dbSNP |
X | g.48688959G>C | CA412873549 | WAS | n.475G>C c.1231G>C (p.Ala411Pro) c.1075G>C (p.Ala359Pro) | |
X | g.48688959G= | CA2428355772 | WAS | n.475G= c.1231G= (p.Ala411=) c.1075G= (p.Ala359=) | |
X | g.48688959G>T | CA412873550 | WAS | n.475G>T c.1231G>T (p.Ala411Ser) c.1075G>T (p.Ala359Ser) | |
X | g.48688960C>A | CA412873551 | WAS | n.476C>A c.1232C>A (p.Ala411Asp) c.1076C>A (p.Ala359Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48688960C= | CA2428355773 | WAS | n.476C= c.1232C= (p.Ala411=) c.1076C= (p.Ala359=) | |
X | g.48688960C>G | CA412873552 | WAS | n.476C>G c.1232C>G (p.Ala411Gly) c.1076C>G (p.Ala359Gly) | |
X | g.48688960C>T | CA10404057 | WAS | n.476C>T c.1232C>T (p.Ala411Val) c.1076C>T (p.Ala359Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688960_48688961delinsG | CA2695233792 | WAS | n.476_477delinsG c.1232_1233delinsG (p.Ala411GlyfsTer?) c.1076_1077delinsG (p.Ala359GlyfsTer?) | |
X | g.48688963dup | CA2695233794 | WAS | n.479dup c.1235dup (p.Pro413SerfsTer?) c.1079dup (p.Pro361SerfsTer?) | |
X | g.48688962_48688963dup | CA2695233793 | WAS | n.478_479dup c.1234_1235dup (p.Pro413LeufsTer?) c.1078_1079dup (p.Pro361LeufsTer?) | |
X | g.48688963del | CA2695233791 | WAS | n.479del c.1235del (p.Pro412LeufsTer?) c.1079del (p.Pro360LeufsTer?) | |
X | g.48688961C>A | CA516356438 | WAS | n.477C>A c.1233C>A (p.Ala411=) c.1077C>A (p.Ala359=) | gnomAD v4 |
X | g.48688961C>G | CA516356436 | WAS | n.477C>G c.1233C>G (p.Ala411=) c.1077C>G (p.Ala359=) | |
X | g.48688961C>T | CA516356437 | WAS | n.477C>T c.1233C>T (p.Ala411=) c.1077C>T (p.Ala359=) | gnomAD v4 |
X | g.48688962C>A | CA412873553 | WAS | n.478C>A c.1234C>A (p.Pro412Thr) c.1078C>A (p.Pro360Thr) | |
X | g.48688962C>G | CA412873554 | WAS | n.478C>G c.1234C>G (p.Pro412Ala) c.1078C>G (p.Pro360Ala) | |
X | g.48688962C>T | CA412873555 | WAS | n.478C>T c.1234C>T (p.Pro412Ser) c.1078C>T (p.Pro360Ser) | |
X | g.48688963C>A | CA412873558 | WAS | n.479C>A c.1235C>A (p.Pro412His) c.1079C>A (p.Pro360His) | |
X | g.48688963C>G | CA412873557 | WAS | n.479C>G c.1235C>G (p.Pro412Arg) c.1079C>G (p.Pro360Arg) | |
X | g.48688963C>T | CA412873556 | WAS | n.479C>T c.1235C>T (p.Pro412Leu) c.1079C>T (p.Pro360Leu) | |
X | g.48688968_48688975del | CA2695233795 | WAS | n.484_491del c.1240_1247del (p.Pro414SerfsTer?) c.1084_1091del (p.Pro362SerfsTer?) | |
X | g.48688964T>A | CA516356440 | WAS | n.480T>A c.1236T>A (p.Pro412=) c.1080T>A (p.Pro360=) | |
X | g.48688964T>C | CA516356442 | WAS | n.480T>C c.1236T>C (p.Pro412=) c.1080T>C (p.Pro360=) | gnomAD v4 |
X | g.48688964T>G | CA516356443 | WAS | n.480T>G c.1236T>G (p.Pro412=) c.1080T>G (p.Pro360=) | |
X | g.48688965C>A | CA412873559 | WAS | n.481C>A c.1237C>A (p.Pro413Thr) c.1081C>A (p.Pro361Thr) | |
X | g.48688965C>G | CA412873560 | WAS | n.481C>G c.1237C>G (p.Pro413Ala) c.1081C>G (p.Pro361Ala) | |
X | g.48688965C>T | CA412873561 | WAS | n.481C>T c.1237C>T (p.Pro413Ser) c.1081C>T (p.Pro361Ser) | |
X | g.48688969dup | CA2695233796 | WAS | n.485dup c.1241dup (p.Leu415ThrfsTer?) c.1085dup (p.Leu363ThrfsTer?) | |
X | g.48688969del | CA2693645043 | WAS | n.485del c.1241del (p.Pro414HisfsTer?) c.1085del (p.Pro362HisfsTer?) | gnomAD v4 |
X | g.48688966C>A | CA412873562 | WAS | n.482C>A c.1238C>A (p.Pro413His) c.1082C>A (p.Pro361His) | gnomAD v4 |
X | g.48688966C>G | CA412873563 | WAS | n.482C>G c.1238C>G (p.Pro413Arg) c.1082C>G (p.Pro361Arg) | |
X | g.48688966C>T | CA412873564 | WAS | n.482C>T c.1238C>T (p.Pro413Leu) c.1082C>T (p.Pro361Leu) | gnomAD v4 |
X | g.48688967C>A | CA516356446 | WAS | n.483C>A c.1239C>A (p.Pro413=) c.1083C>A (p.Pro361=) | |
X | g.48688967C>G | CA516356448 | WAS | n.483C>G c.1239C>G (p.Pro413=) c.1083C>G (p.Pro361=) | gnomAD v4 |
X | g.48688967C>T | CA516356449 | WAS | n.483C>T c.1239C>T (p.Pro413=) c.1083C>T (p.Pro361=) | gnomAD v4 |
X | g.48688968C>A | CA412873565 | WAS | n.484C>A c.1240C>A (p.Pro414Thr) c.1084C>A (p.Pro362Thr) | dbSNP |
X | g.48688968C>G | CA412873566 | WAS | n.484C>G c.1240C>G (p.Pro414Ala) c.1084C>G (p.Pro362Ala) | |
X | g.48688968C>T | CA412873567 | WAS | n.484C>T c.1240C>T (p.Pro414Ser) c.1084C>T (p.Pro362Ser) | dbSNP gnomAD v4 |
X | g.48688969C>A | CA412873568 | WAS | n.485C>A c.1241C>A (p.Pro414Gln) c.1085C>A (p.Pro362Gln) | gnomAD v4 |
X | g.48688969C= | CA2428355774 | WAS | n.485C= c.1241C= (p.Pro414=) c.1085C= (p.Pro362=) | |
X | g.48688969C>G | CA329102421 | WAS | n.485C>G c.1241C>G (p.Pro414Arg) c.1085C>G (p.Pro362Arg) | dbSNP |
X | g.48688969C>T | CA412873569 | WAS | n.485C>T c.1241C>T (p.Pro414Leu) c.1085C>T (p.Pro362Leu) | |
X | g.48688970A>C | CA516356451 | WAS | n.486A>C c.1242A>C (p.Pro414=) c.1086A>C (p.Pro362=) | |
X | g.48688970A>G | CA516356453 | WAS | n.486A>G c.1242A>G (p.Pro414=) c.1086A>G (p.Pro362=) | |
X | g.48688970A>T | CA516356455 | WAS | n.486A>T c.1242A>T (p.Pro414=) c.1086A>T (p.Pro362=) | |
X | g.48688970dup | CA2695233797 | WAS | n.486dup c.1242dup (p.Leu415ThrfsTer?) c.1086dup (p.Leu363ThrfsTer?) | |
X | g.48688971C>A | CA412873572 | WAS | n.487C>A c.1243C>A (p.Leu415Ile) c.1087C>A (p.Leu363Ile) | |
X | g.48688971C>G | CA412873571 | WAS | n.487C>G c.1243C>G (p.Leu415Val) c.1087C>G (p.Leu363Val) | |
X | g.48688971C>T | CA412873570 | WAS | n.487C>T c.1243C>T (p.Leu415Phe) c.1087C>T (p.Leu363Phe) | |
X | g.48688972T>A | CA412873573 | WAS | n.488T>A c.1244T>A (p.Leu415His) c.1088T>A (p.Leu363His) | |
X | g.48688972T>C | CA10404058 | WAS | n.488T>C c.1244T>C (p.Leu415Pro) c.1088T>C (p.Leu363Pro) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.48688972T>G | CA412873574 | WAS | n.488T>G c.1244T>G (p.Leu415Arg) c.1088T>G (p.Leu363Arg) | |
X | g.48688972T= | CA2428355775 | WAS | n.488T= c.1244T= (p.Leu415=) c.1088T= (p.Leu363=) |