Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48688818C>A | CA516356406 | WAS | n.334C>A c.1090C>A (p.Arg364=) c.934C>A (p.Arg312=) | gnomAD v4 |
X | g.48688818C= | CA2428355691 | WAS | n.334C= c.1090C= (p.Arg364=) c.934C= (p.Arg312=) | |
X | g.48688818C>G | CA412873266 | WAS | n.334C>G c.1090C>G (p.Arg364Gly) c.934C>G (p.Arg312Gly) | |
X | g.48688818C>T | CA412873267 | WAS | n.334C>T c.1090C>T (p.Arg364Ter) c.934C>T (p.Arg312Ter) | ClinVar dbSNP gnomAD v4 |
X | g.48688818_48688819insTGGGG | CA2693644711 | WAS | n.334_335insTGGGG c.1090_1091insTGGGG (p.Arg364LeufsTer?) c.934_935insTGGGG (p.Arg312LeufsTer?) | gnomAD v4 |
X | g.48688819G>A | CA412873268 | WAS | n.335G>A c.1091G>A (p.Arg364Gln) c.935G>A (p.Arg312Gln) | dbSNP gnomAD v4 |
X | g.48688819G>C | CA412873269 | WAS | n.335G>C c.1091G>C (p.Arg364Pro) c.935G>C (p.Arg312Pro) | gnomAD v3 gnomAD v4 |
X | g.48688819G= | CA2428355692 | WAS | n.335G= c.1091G= (p.Arg364=) c.935G= (p.Arg312=) | |
X | g.48688819G>T | CA412873270 | WAS | n.335G>T c.1091G>T (p.Arg364Leu) c.935G>T (p.Arg312Leu) | gnomAD v4 |
X | g.48688819_48688825del | CA2693644713 | WAS | n.335_341del c.1091_1097del (p.Arg364ProfsTer?) c.935_941del (p.Arg312ProfsTer?) | gnomAD v4 |
X | g.48688820del | CA2695233774 | WAS | n.336del c.1092del (p.Gly366AlafsTer?) c.936del (p.Gly314AlafsTer?) | |
X | g.48688820A>C | CA516356408 | WAS | n.336A>C c.1092A>C (p.Arg364=) c.936A>C (p.Arg312=) | ClinVar gnomAD v4 |
X | g.48688820A>G | CA516356410 | WAS | n.336A>G c.1092A>G (p.Arg364=) c.936A>G (p.Arg312=) | gnomAD v4 |
X | g.48688820A>T | CA516356409 | WAS | n.336A>T c.1092A>T (p.Arg364=) c.936A>T (p.Arg312=) | gnomAD v4 |
X | g.48688820_48688821delinsAG | CA2428355693 | WAS | n.336_337delinsAG c.1092_1093delinsAG (p.Arg364=) c.936_937delinsAG (p.Arg312=) | |
X | g.48688821G>A | CA412873271 | WAS | n.337G>A c.1093G>A (p.Gly365Arg) c.937G>A (p.Gly313Arg) | |
X | g.48688821G>C | CA412873272 | WAS | n.337G>C c.1093G>C (p.Gly365Arg) c.937G>C (p.Gly313Arg) | |
X | g.48688821G>T | CA412873273 | WAS | n.337G>T c.1093G>T (p.Gly365Trp) c.937G>T (p.Gly313Trp) | |
X | g.48688825dup | CA2693644719 | WAS | n.341dup c.1097dup (p.Pro368SerfsTer?) c.941dup (p.Pro316SerfsTer?) | gnomAD v4 |
X | g.48688825del | CA341014 | WAS | n.341del c.1097del (p.Gly366AlafsTer?) c.941del (p.Gly314AlafsTer?) | ClinVar dbSNP |
X | g.48688822G>A | CA412873278 | WAS | n.338G>A c.1094G>A (p.Gly365Glu) c.938G>A (p.Gly313Glu) | gnomAD v4 |
X | g.48688822G>C | CA412873277 | WAS | n.338G>C c.1094G>C (p.Gly365Ala) c.938G>C (p.Gly313Ala) | |
X | g.48688822G>T | CA412873276 | WAS | n.338G>T c.1094G>T (p.Gly365Val) c.938G>T (p.Gly313Val) | gnomAD v4 |
X | g.48688823G>A | CA516356413 | WAS | n.339G>A c.1095G>A (p.Gly365=) c.939G>A (p.Gly313=) | dbSNP gnomAD v4 |
X | g.48688823G>C | CA516356414 | WAS | n.339G>C c.1095G>C (p.Gly365=) c.939G>C (p.Gly313=) | |
X | g.48688823G= | CA2428355694 | WAS | n.339G= c.1095G= (p.Gly365=) c.939G= (p.Gly313=) | |
X | g.48688823G>T | CA516356415 | WAS | n.339G>T c.1095G>T (p.Gly365=) c.939G>T (p.Gly313=) | gnomAD v4 |
X | g.48688824G>A | CA412873279 | WAS | n.340G>A c.1096G>A (p.Gly366Ser) c.940G>A (p.Gly314Ser) | gnomAD v4 |
X | g.48688824G>C | CA412873280 | WAS | n.340G>C c.1096G>C (p.Gly366Arg) c.940G>C (p.Gly314Arg) | |
X | g.48688824G>T | CA412873281 | WAS | n.340G>T c.1096G>T (p.Gly366Cys) c.940G>T (p.Gly314Cys) | |
X | g.48688825G>A | CA412873282 | WAS | n.341G>A c.1097G>A (p.Gly366Asp) c.941G>A (p.Gly314Asp) | dbSNP gnomAD v4 |
X | g.48688825G>C | CA412873283 | WAS | n.341G>C c.1097G>C (p.Gly366Ala) c.941G>C (p.Gly314Ala) | gnomAD v4 |
X | g.48688825G= | CA2428355695 | WAS | n.341G= c.1097G= (p.Gly366=) c.941G= (p.Gly314=) | |
X | g.48688825G>T | CA412873284 | WAS | n.341G>T c.1097G>T (p.Gly366Val) c.941G>T (p.Gly314Val) | |
X | g.48688826C>A | CA516356419 | WAS | n.342C>A c.1098C>A (p.Gly366=) c.942C>A (p.Gly314=) | gnomAD v4 |
X | g.48688826C>G | CA516356420 | WAS | n.342C>G c.1098C>G (p.Gly366=) c.942C>G (p.Gly314=) | gnomAD v4 |
X | g.48688826C>T | CA516356421 | WAS | n.342C>T c.1098C>T (p.Gly366=) c.942C>T (p.Gly314=) | gnomAD v4 |
X | g.48688828_48688829insCCCCCC | CA2693644729 | WAS | n.344_345insCCCCCC c.1100_1101insCCCCCC (p.Pro367_Pro368insProPro) c.944_945insCCCCCC (p.Pro315_Pro316insProPro) | gnomAD v4 |
X | g.48688827C>A | CA412873285 | WAS | n.343C>A c.1099C>A (p.Pro367Thr) c.943C>A (p.Pro315Thr) | gnomAD v4 |
X | g.48688827C>G | CA412873286 | WAS | n.343C>G c.1099C>G (p.Pro367Ala) c.943C>G (p.Pro315Ala) | |
X | g.48688827C>T | CA412873287 | WAS | n.343C>T c.1099C>T (p.Pro367Ser) c.943C>T (p.Pro315Ser) | gnomAD v4 |
X | g.48688829_48688831del | CA2579600722 | WAS | n.345_347del c.1101_1103del (p.Pro368del) c.945_947del (p.Pro316del) | |
X | g.48688828C>A | CA412873288 | WAS | n.344C>A c.1100C>A (p.Pro367His) c.944C>A (p.Pro315His) | gnomAD v4 |
X | g.48688828C>G | CA412873289 | WAS | n.344C>G c.1100C>G (p.Pro367Arg) c.944C>G (p.Pro315Arg) | |
X | g.48688828C>T | CA412873290 | WAS | n.344C>T c.1100C>T (p.Pro367Leu) c.944C>T (p.Pro315Leu) | |
X | g.48688829T>A | CA516356423 | WAS | n.345T>A c.1101T>A (p.Pro367=) c.945T>A (p.Pro315=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48688829T>C | CA516356424 | WAS | n.345T>C c.1101T>C (p.Pro367=) c.945T>C (p.Pro315=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48688829T>G | CA516356425 | WAS | n.345T>G c.1101T>G (p.Pro367=) c.945T>G (p.Pro315=) | ClinVar |
X | g.48688829T= | CA2428355697 | WAS | n.345T= c.1101T= (p.Pro367=) c.945T= (p.Pro315=) | |
X | g.48688829_48688832delinsTCCA | CA2428355696 | WAS | n.345_348delinsTCCA c.1101_1104delinsTCCA (p.Pro367=) c.945_948delinsTCCA (p.Pro315=) |