Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48688838_48688840del | CA641901739 | WAS | n.354_356del c.1110_1112del (p.Pro371del) c.954_956del (p.Pro319del) | dbSNP gnomAD v2 gnomAD v4 |
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.48688838del | CA2695233775 | WAS | n.354del c.1110del (p.Pro372LeufsTer?) c.954del (p.Pro320LeufsTer?) | |
X | g.48688838A= | CA2428355703 | WAS | n.354A= c.1110A= (p.Pro370=) c.954A= (p.Pro318=) | |
X | g.48688838A>C | CA10404037 | WAS | n.354A>C c.1110A>C (p.Pro370=) c.954A>C (p.Pro318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688838A>G | CA516356441 | WAS | n.354A>G c.1110A>G (p.Pro370=) c.954A>G (p.Pro318=) | |
X | g.48688838A>T | CA516356439 | WAS | n.354A>T c.1110A>T (p.Pro370=) c.954A>T (p.Pro318=) | |
X | g.48688839C>A | CA412873310 | WAS | n.355C>A c.1111C>A (p.Pro371Thr) c.955C>A (p.Pro319Thr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48688839C= | CA2428355704 | WAS | n.355C= c.1111C= (p.Pro371=) c.955C= (p.Pro319=) | |
X | g.48688839C>G | CA412873311 | WAS | n.355C>G c.1111C>G (p.Pro371Ala) c.955C>G (p.Pro319Ala) | gnomAD v4 |
X | g.48688839C>T | CA412873312 | WAS | n.355C>T c.1111C>T (p.Pro371Ser) c.955C>T (p.Pro319Ser) | |
X | g.48688843del | CA2554499492 | WAS | n.359del c.1115del (p.Pro372LeufsTer?) c.959del (p.Pro320LeufsTer?) | gnomAD v4 |
X | g.48688841_48688843del | CA2693644793 | WAS | n.357_359del c.1113_1115del (p.Pro372del) c.957_959del (p.Pro320del) | gnomAD v4 |
X | g.48688840C>A | CA412873313 | WAS | n.356C>A c.1112C>A (p.Pro371His) c.956C>A (p.Pro319His) | gnomAD v4 |
X | g.48688840C= | CA2428355705 | WAS | n.356C= c.1112C= (p.Pro371=) c.956C= (p.Pro319=) | |
X | g.48688840C>G | CA412873314 | WAS | n.356C>G c.1112C>G (p.Pro371Arg) c.956C>G (p.Pro319Arg) | |
X | g.48688840C>T | CA412873315 | WAS | n.356C>T c.1112C>T (p.Pro371Leu) c.956C>T (p.Pro319Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688841C>A | CA516356444 | WAS | n.357C>A c.1113C>A (p.Pro371=) c.957C>A (p.Pro319=) | gnomAD v4 |
X | g.48688841C= | CA2428355706 | WAS | n.357C= c.1113C= (p.Pro371=) c.957C= (p.Pro319=) | |
X | g.48688841C>G | CA516356445 | WAS | n.357C>G c.1113C>G (p.Pro371=) c.957C>G (p.Pro319=) | gnomAD v4 |
X | g.48688841C>T | CA516356447 | WAS | n.357C>T c.1113C>T (p.Pro371=) c.957C>T (p.Pro319=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688842C>A | CA412873316 | WAS | n.358C>A c.1114C>A (p.Pro372Thr) c.958C>A (p.Pro320Thr) | |
X | g.48688842C>G | CA412873317 | WAS | n.358C>G c.1114C>G (p.Pro372Ala) c.958C>G (p.Pro320Ala) | |
X | g.48688842C>T | CA412873318 | WAS | n.358C>T c.1114C>T (p.Pro372Ser) c.958C>T (p.Pro320Ser) | |
X | g.48688843C>A | CA412873319 | WAS | n.359C>A c.1115C>A (p.Pro372His) c.959C>A (p.Pro320His) | gnomAD v4 |
X | g.48688843C= | CA2428355707 | WAS | n.359C= c.1115C= (p.Pro372=) c.959C= (p.Pro320=) | |
X | g.48688843C>G | CA412873320 | WAS | n.359C>G c.1115C>G (p.Pro372Arg) c.959C>G (p.Pro320Arg) | |
X | g.48688843C>T | CA10404038 | WAS | n.359C>T c.1115C>T (p.Pro372Leu) c.959C>T (p.Pro320Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48688844del | CA2695233776 | WAS | n.360del c.1116del (p.Pro373GlnfsTer?) c.960del (p.Pro321GlnfsTer?) | |
X | g.48688844T>A | CA516356450 | WAS | n.360T>A c.1116T>A (p.Pro372=) c.960T>A (p.Pro320=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48688844T>C | CA516356452 | WAS | n.360T>C c.1116T>C (p.Pro372=) c.960T>C (p.Pro320=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48688844T>G | CA516356454 | WAS | n.360T>G c.1116T>G (p.Pro372=) c.960T>G (p.Pro320=) | gnomAD v4 |
X | g.48688844T= | CA2428355708 | WAS | n.360T= c.1116T= (p.Pro372=) c.960T= (p.Pro320=) | |
X | g.48688845C>A | CA412873323 | WAS | n.361C>A c.1117C>A (p.Pro373Thr) c.961C>A (p.Pro321Thr) | gnomAD v4 |
X | g.48688845C= | CA2428355709 | WAS | n.361C= c.1117C= (p.Pro373=) c.961C= (p.Pro321=) | |
X | g.48688845C>G | CA412873322 | WAS | n.361C>G c.1117C>G (p.Pro373Ala) c.961C>G (p.Pro321Ala) | |
X | g.48688845C>T | CA412873321 | WAS | n.361C>T c.1117C>T (p.Pro373Ser) c.961C>T (p.Pro321Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48688846C>A | CA412873324 | WAS | n.362C>A c.1118C>A (p.Pro373Gln) c.962C>A (p.Pro321Gln) | gnomAD v4 |
X | g.48688846C= | CA2428355710 | WAS | n.362C= c.1118C= (p.Pro373=) c.962C= (p.Pro321=) | |
X | g.48688846C>G | CA412873325 | WAS | n.362C>G c.1118C>G (p.Pro373Arg) c.962C>G (p.Pro321Arg) | |
X | g.48688846C>T | CA412873326 | WAS | n.362C>T c.1118C>T (p.Pro373Leu) c.962C>T (p.Pro321Leu) | dbSNP gnomAD v4 |
X | g.48688847A= | CA2428355711 | WAS | n.363A= c.1119A= (p.Pro373=) c.963A= (p.Pro321=) | |
X | g.48688847A>C | CA516356231 | WAS | n.363A>C c.1119A>C (p.Pro373=) c.963A>C (p.Pro321=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48688847A>G | CA516356233 | WAS | n.363A>G c.1119A>G (p.Pro373=) c.963A>G (p.Pro321=) | gnomAD v4 |
X | g.48688847A>T | CA516356234 | WAS | n.363A>T c.1119A>T (p.Pro373=) c.963A>T (p.Pro321=) | |
X | g.48688847dup | CA2580101062 | WAS | n.363dup c.1119dup (p.Ala374SerfsTer?) c.963dup (p.Ala322SerfsTer?) | ClinVar |
X | g.48688848G>A | CA10404039 | WAS | n.364G>A c.1120G>A (p.Ala374Thr) c.964G>A (p.Ala322Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48688848G>C | CA412873327 | WAS | n.364G>C c.1120G>C (p.Ala374Pro) c.964G>C (p.Ala322Pro) | gnomAD v4 |
X | g.48688848G= | CA2428355712 | WAS | n.364G= c.1120G= (p.Ala374=) c.964G= (p.Ala322=) |