Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6034818T>A | CA383520241 | VWF | c.2555A>T (p.Gln852Leu) n.421-40884A>T | dbSNP |
12 | g.6034818T>C | CA6403022 | VWF | c.2555A>G (p.Gln852Arg) n.421-40884A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034818T>G | CA383520240 | VWF | c.2555A>C (p.Gln852Pro) n.421-40884A>C | |
12 | g.6034818T= | CA645509542 | VWF | c.2555A= (p.Gln852=) n.421-40884A= | |
12 | g.6034819G>A | CA6403023 | VWF | c.2554C>T (p.Gln852Ter) n.421-40885C>T c.2554C>T (p.Arg852Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034819G>C | CA6403024 | VWF | c.2554C>G (p.Gln852Glu) n.421-40885C>G c.2554C>G (p.Arg852Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034819G= | CA2013880167 | VWF | c.2554C= (p.Gln852=) n.421-40885C= c.2554C= (p.Arg852=) | |
12 | g.6034819G>T | CA383520242 | VWF | c.2554C>A (p.Gln852Lys) n.421-40885C>A c.2554C>A (p.Arg852=) | |
12 | g.6034820A>C | CA383520243 | VWF | c.2553T>G (p.Cys851Trp) n.421-40886T>G | |
12 | g.6034820A>G | CA478103040 | VWF | c.2553T>C (p.Cys851=) n.421-40886T>C | |
12 | g.6034820A>T | CA383520244 | VWF | c.2553T>A (p.Cys851Ter) n.421-40886T>A | |
12 | g.6034821C>A | CA383520245 | VWF | c.2552G>T (p.Cys851Phe) n.421-40887G>T | gnomAD v4 |
12 | g.6034821C>G | CA383520246 | VWF | c.2552G>C (p.Cys851Ser) n.421-40887G>C | |
12 | g.6034821C>T | CA383520247 | VWF | c.2552G>A (p.Cys851Tyr) n.421-40887G>A | |
12 | g.6034822A= | CA2013880168 | VWF | c.2551T= (p.Cys851=) n.421-40888T= | |
12 | g.6034822A>C | CA383520248 | VWF | c.2551T>G (p.Cys851Gly) n.421-40888T>G | |
12 | g.6034822A>G | CA383520249 | VWF | c.2551T>C (p.Cys851Arg) n.421-40888T>C | dbSNP |
12 | g.6034822A>T | CA383520250 | VWF | c.2551T>A (p.Cys851Ser) n.421-40888T>A | |
12 | g.6034823G>A | CA478103042 | VWF | c.2550C>T (p.Val850=) n.421-40889C>T | |
12 | g.6034823G>C | CA478103044 | VWF | c.2550C>G (p.Val850=) n.421-40889C>G | |
12 | g.6034823G>T | CA478103046 | VWF | c.2550C>A (p.Val850=) n.421-40889C>A | |
12 | g.6034824A>C | CA383520251 | VWF | c.2549T>G (p.Val850Gly) n.421-40890T>G | |
12 | g.6034824A>G | CA383520252 | VWF | c.2549T>C (p.Val850Ala) n.421-40890T>C | |
12 | g.6034824A>T | CA383520253 | VWF | c.2549T>A (p.Val850Asp) n.421-40890T>A | |
12 | g.6034825C>A | CA383520254 | VWF | c.2548G>T (p.Val850Phe) n.421-40891G>T | |
12 | g.6034825C>G | CA383520255 | VWF | c.2548G>C (p.Val850Leu) n.421-40891G>C | |
12 | g.6034825C>T | CA383520256 | VWF | c.2548G>A (p.Val850Ile) n.421-40891G>A | gnomAD v4 |
12 | g.6034826A>C | CA383520258 | VWF | c.2547T>G (p.Cys849Trp) n.421-40892T>G | |
12 | g.6034826A>G | CA478103048 | VWF | c.2547T>C (p.Cys849=) n.421-40892T>C | |
12 | g.6034826A>T | CA383520257 | VWF | c.2547T>A (p.Cys849Ter) n.421-40892T>A | |
12 | g.6034827C>A | CA383520259 | VWF | c.2547-1G>T (n.2547-1G>T) n.421-40893G>T | |
12 | g.6034827C>G | CA383520260 | VWF | c.2547-1G>C (n.2547-1G>C) n.421-40893G>C | ClinVar dbSNP |
12 | g.6034827C>T | CA383520261 | VWF | c.2547-1G>A (n.2547-1G>A) n.421-40893G>A | |
12 | g.6034828T>A | CA383520262 | VWF | c.2547-2A>T (n.2547-2A>T) n.421-40894A>T | |
12 | g.6034828T>C | CA383520263 | VWF | c.2547-2A>G (n.2547-2A>G) n.421-40894A>G | |
12 | g.6034828T>G | CA383520264 | VWF | c.2547-2A>C (n.2547-2A>C) n.421-40894A>C | |
12 | g.6034828_6034829insGGGGAC | CA2794398168 | VWF | c.2547-3_2547-2insGTCCCC (n.2547-3_2547-2insGTCCCC) n.421-40895_421-40894insGTCCCC | |
12 | g.6034830G>A | CA2617231250 | VWF | c.2547-4C>T (n.2547-4C>T) n.421-40896C>T | gnomAD v4 |
12 | g.6034831G>A | CA6403025 | VWF | c.2547-5C>T (n.2547-5C>T) n.421-40897C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034831G= | CA2013880169 | VWF | c.2547-5C= (n.2547-5C=) n.421-40897C= | |
12 | g.6034831G>T | CA2013880170 | VWF | c.2547-5C>A (n.2547-5C>A) n.421-40897C>A | dbSNP |
12 | g.6034832A= | CA2013880171 | VWF | c.2547-6T= (n.2547-6T=) n.421-40898T= | |
12 | g.6034832A>G | CA2013880172 | VWF | c.2547-6T>C (n.2547-6T>C) n.421-40898T>C | dbSNP |
12 | g.6034833G>A | CA2617231252 | VWF | c.2547-7C>T (n.2547-7C>T) n.421-40899C>T | gnomAD v4 |
12 | g.6034833G>C | CA2617231251 | VWF | c.2547-7C>G (n.2547-7C>G) n.421-40899C>G | gnomAD v4 |
12 | g.6034833_6034834delinsGC | CA2013880173 | VWF | c.2547-8_2547-7delinsGC (n.2547-8_2547-7delinsGC) n.421-40900_421-40899delinsGC | |
12 | g.6034834del | CA6403026 | VWF | c.2547-8del (n.2547-8del) n.421-40900del | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6034834C>A | CA2617231253 | VWF | c.2547-8G>T (n.2547-8G>T) n.421-40900G>T | gnomAD v4 |
12 | g.6034834C= | CA2013880174 | VWF | c.2547-8G= (n.2547-8G=) n.421-40900G= | |
12 | g.6034834C>T | CA603102394 | VWF | c.2547-8G>A (n.2547-8G>A) n.421-40900G>A | dbSNP gnomAD v2 gnomAD v4 |