Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.235052475_235052511delinsTCCTGCGCCGTCTGCTGGAATTCTGCGGGGAGCAGAG	CA1336501514	SH3BP4	c.2479-87_2479-51delinsTCCTGCGCCGTCTGCTGGAATTCTGCGGGGAGCAGAG (n.2479-87_2479-51delinsTCCTGCGCCGTCTGCTGGAATTCTGCGGGGAGCAGAG)
2	g.235052481_235052516del	CA766410861	SH3BP4	c.2479-81_2479-46del (n.2479-81_2479-46del)	dbSNP gnomAD v4
2	g.235052490T>A	CA2663754321	SH3BP4	c.2479-72T>A (n.2479-72T>A)	gnomAD v4
2	g.235052490T>C	CA2663754322	SH3BP4	c.2479-72T>C (n.2479-72T>C)	gnomAD v4
2	g.235052490T>G	CA766410874	SH3BP4	c.2479-72T>G (n.2479-72T>G)	dbSNP gnomAD v4
2	g.235052490T=	CA1336501522	SH3BP4	c.2479-72T= (n.2479-72T=)
2	g.235052491G>A	CA11266133	SH3BP4	c.2479-71G>A (n.2479-71G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052491G=	CA1336501523	SH3BP4	c.2479-71G= (n.2479-71G=)
2	g.235052491G>T	CA2577384618	SH3BP4	c.2479-71G>T (n.2479-71G>T)	gnomAD v4
2	g.235052492G>A	CA2663754323	SH3BP4	c.2479-70G>A (n.2479-70G>A)	gnomAD v4
2	g.235052492G>T	CA2663754324	SH3BP4	c.2479-70G>T (n.2479-70G>T)	gnomAD v4
2	g.235052493A>G	CA2663754325	SH3BP4	c.2479-69A>G (n.2479-69A>G)	gnomAD v4
2	g.235052493A>T	CA2663754326	SH3BP4	c.2479-69A>T (n.2479-69A>T)	gnomAD v4
2	g.235052497C>A	CA2663754327	SH3BP4	c.2479-65C>A (n.2479-65C>A)	gnomAD v4
2	g.235052497C=	CA1336501524	SH3BP4	c.2479-65C= (n.2479-65C=)
2	g.235052497C>G	CA2663754328	SH3BP4	c.2479-65C>G (n.2479-65C>G)	gnomAD v4
2	g.235052497C>T	CA540444710	SH3BP4	c.2479-65C>T (n.2479-65C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052498T>C	CA2577384619	SH3BP4	c.2479-64T>C (n.2479-64T>C)
2	g.235052499G>A	CA1043639747	SH3BP4	c.2479-63G>A (n.2479-63G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.235052499G=	CA1336501525	SH3BP4	c.2479-63G= (n.2479-63G=)
2	g.235052499G>T	CA2663754329	SH3BP4	c.2479-63G>T (n.2479-63G>T)	gnomAD v4
2	g.235052500del	CA2663754330	SH3BP4	c.2479-62del (n.2479-62del)	gnomAD v4
2	g.235052500C>A	CA2663754331	SH3BP4	c.2479-62C>A (n.2479-62C>A)	gnomAD v4
2	g.235052500C=	CA1336501526	SH3BP4	c.2479-62C= (n.2479-62C=)
2	g.235052500C>T	CA67671609	SH3BP4	c.2479-62C>T (n.2479-62C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.235052501G>A	CA766410880	SH3BP4	c.2479-61G>A (n.2479-61G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.235052501G>C	CA1043639753	SH3BP4	c.2479-61G>C (n.2479-61G>C)	dbSNP gnomAD v3 gnomAD v4
2	g.235052501G=	CA1336501527	SH3BP4	c.2479-61G= (n.2479-61G=)
2	g.235052501G>T	CA2577384620	SH3BP4	c.2479-61G>T (n.2479-61G>T)	gnomAD v4
2	g.235052504del	CA2663754332	SH3BP4	c.2479-58del (n.2479-58del)	gnomAD v4
2	g.235052502G>A	CA2577384621	SH3BP4	c.2479-60G>A (n.2479-60G>A)	gnomAD v4
2	g.235052502G>T	CA2577384622	SH3BP4	c.2479-60G>T (n.2479-60G>T)	gnomAD v4
2	g.235052503G>A	CA2577384623	SH3BP4	c.2479-59G>A (n.2479-59G>A)	gnomAD v4
2	g.235052503G>C	CA67671613	SH3BP4	c.2479-59G>C (n.2479-59G>C)	dbSNP gnomAD v4
2	g.235052503G=	CA1336501528	SH3BP4	c.2479-59G= (n.2479-59G=)
2	g.235052503G>T	CA2663754333	SH3BP4	c.2479-59G>T (n.2479-59G>T)	gnomAD v4
2	g.235052504G>A	CA2663754334	SH3BP4	c.2479-58G>A (n.2479-58G>A)	gnomAD v4
2	g.235052504G>T	CA2663754335	SH3BP4	c.2479-58G>T (n.2479-58G>T)	gnomAD v4
2	g.235052506G>A	CA2551236590	SH3BP4	c.2479-56G>A (n.2479-56G>A)	gnomAD v4
2	g.235052506G>T	CA2663754336	SH3BP4	c.2479-56G>T (n.2479-56G>T)	dbSNP gnomAD v4
2	g.235052507C>A	CA2663754337	SH3BP4	c.2479-55C>A (n.2479-55C>A)	gnomAD v4
2	g.235052507C>T	CA2663754338	SH3BP4	c.2479-55C>T (n.2479-55C>T)	gnomAD v4
2	g.235052508A=	CA1336501529	SH3BP4	c.2479-54A= (n.2479-54A=)
2	g.235052508A>C	CA2663754340	SH3BP4	c.2479-54A>C (n.2479-54A>C)	gnomAD v4
2	g.235052508A>T	CA1336501530	SH3BP4	c.2479-54A>T (n.2479-54A>T)	dbSNP
2	g.235052508_235052522del	CA2663754339	SH3BP4	c.2479-54_2479-40del (n.2479-54_2479-40del)	gnomAD v4
2	g.235052509G>T	CA2663754341	SH3BP4	c.2479-53G>T (n.2479-53G>T)	gnomAD v4
2	g.235052511G>A	CA2663754342	SH3BP4	c.2479-51G>A (n.2479-51G>A)	gnomAD v4
2	g.235052511G>T	CA2663754343	SH3BP4	c.2479-51G>T (n.2479-51G>T)	gnomAD v4
2	g.235052512C>A	CA540444711	SH3BP4	c.2479-50C>A (n.2479-50C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052512C=	CA1336501531	SH3BP4	c.2479-50C= (n.2479-50C=)
2	g.235052512C>G	CA2663754344	SH3BP4	c.2479-50C>G (n.2479-50C>G)	gnomAD v4
2	g.235052512C>T	CA2663754345	SH3BP4	c.2479-50C>T (n.2479-50C>T)	gnomAD v4
2	g.235052513C>A	CA2663754346	SH3BP4	c.2479-49C>A (n.2479-49C>A)	gnomAD v4
2	g.235052513C>G	CA2663754347	SH3BP4	c.2479-49C>G (n.2479-49C>G)	gnomAD v4
2	g.235052514T>C	CA2663754348	SH3BP4	c.2479-48T>C (n.2479-48T>C)	gnomAD v4
2	g.235052515G>A	CA2577384624	SH3BP4	c.2479-47G>A (n.2479-47G>A)	gnomAD v4
2	g.235052515G>T	CA2663754349	SH3BP4	c.2479-47G>T (n.2479-47G>T)	dbSNP gnomAD v4
2	g.235052516C>A	CA540444712	SH3BP4	c.2479-46C>A (n.2479-46C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052516C=	CA1336501532	SH3BP4	c.2479-46C= (n.2479-46C=)
2	g.235052516C>T	CA2663754351	SH3BP4	c.2479-46C>T (n.2479-46C>T)	gnomAD v4
2	g.235052519del	CA2663754350	SH3BP4	c.2479-43del (n.2479-43del)	gnomAD v4
2	g.235052517C>A	CA2663754352	SH3BP4	c.2479-45C>A (n.2479-45C>A)	gnomAD v4
2	g.235052517C>T	CA2577384625	SH3BP4	c.2479-45C>T (n.2479-45C>T)	gnomAD v4
2	g.235052518C>A	CA540444714	SH3BP4	c.2479-44C>A (n.2479-44C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052518C=	CA1336501533	SH3BP4	c.2479-44C= (n.2479-44C=)
2	g.235052518C>T	CA540444713	SH3BP4	c.2479-44C>T (n.2479-44C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.235052519C>A	CA2663754353	SH3BP4	c.2479-43C>A (n.2479-43C>A)	gnomAD v4
2	g.235052519C=	CA1336501534	SH3BP4	c.2479-43C= (n.2479-43C=)
2	g.235052519C>T	CA540444715	SH3BP4	c.2479-43C>T (n.2479-43C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052520A>T	CA2663754354	SH3BP4	c.2479-42A>T (n.2479-42A>T)	gnomAD v4
2	g.235052521C>A	CA2663754356	SH3BP4	c.2479-41C>A (n.2479-41C>A)	gnomAD v4
2	g.235052521C>T	CA2663754355	SH3BP4	c.2479-41C>T (n.2479-41C>T)	gnomAD v4
2	g.235052522T>A	CA2577384626	SH3BP4	c.2479-40T>A (n.2479-40T>A)
2	g.235052522T>C	CA2663754357	SH3BP4	c.2479-40T>C (n.2479-40T>C)	gnomAD v4
2	g.235052523C>A	CA2663754359	SH3BP4	c.2479-39C>A (n.2479-39C>A)	gnomAD v4
2	g.235052523C=	CA1336501535	SH3BP4	c.2479-39C= (n.2479-39C=)
2	g.235052523C>G	CA540444716	SH3BP4	c.2479-39C>G (n.2479-39C>G)	dbSNP gnomAD v2 gnomAD v4
2	g.235052523C>T	CA1336501536	SH3BP4	c.2479-39C>T (n.2479-39C>T)	dbSNP gnomAD v4
2	g.235052525del	CA2663754360	SH3BP4	c.2479-37del (n.2479-37del)	gnomAD v4
2	g.235052524_235052525del	CA2663754358	SH3BP4	c.2479-38_2479-37del (n.2479-38_2479-37del)	gnomAD v4
2	g.235052525C>A	CA2663754361	SH3BP4	c.2479-37C>A (n.2479-37C>A)	gnomAD v4
2	g.235052526del	CA2663754362	SH3BP4	c.2479-36del (n.2479-36del)	gnomAD v4
2	g.235052526T>C	CA2663754363	SH3BP4	c.2479-36T>C (n.2479-36T>C)	gnomAD v4
2	g.235052527del	CA2663754364	SH3BP4	c.2479-35del (n.2479-35del)	gnomAD v4
2	g.235052527A=	CA1336501537	SH3BP4	c.2479-35A= (n.2479-35A=)
2	g.235052527A>G	CA2184010	SH3BP4	c.2479-35A>G (n.2479-35A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052528C>A	CA2663754365	SH3BP4	c.2479-34C>A (n.2479-34C>A)	gnomAD v4
2	g.235052528C=	CA1336501538	SH3BP4	c.2479-34C= (n.2479-34C=)
2	g.235052528C>T	CA540444717	SH3BP4	c.2479-34C>T (n.2479-34C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.235052529A=	CA1336501539	SH3BP4	c.2479-33A= (n.2479-33A=)
2	g.235052529A>G	CA540444718	SH3BP4	c.2479-33A>G (n.2479-33A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052530C>A	CA2663754366	SH3BP4	c.2479-32C>A (n.2479-32C>A)	gnomAD v4
2	g.235052530C=	CA1336501540	SH3BP4	c.2479-32C= (n.2479-32C=)
2	g.235052530C>T	CA540444719	SH3BP4	c.2479-32C>T (n.2479-32C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.235052531T>C	CA2663754368	SH3BP4	c.2479-31T>C (n.2479-31T>C)	gnomAD v4
2	g.235052532G>T	CA2663754369	SH3BP4	c.2479-30G>T (n.2479-30G>T)	gnomAD v4
2	g.235052533T>A	CA1336501542	SH3BP4	c.2479-29T>A (n.2479-29T>A)	dbSNP
2	g.235052533T>C	CA2663754370	SH3BP4	c.2479-29T>C (n.2479-29T>C)	gnomAD v4
2	g.235052533T=	CA1336501541	SH3BP4	c.2479-29T= (n.2479-29T=)
2	g.235052534C>A	CA2663754371	SH3BP4	c.2479-28C>A (n.2479-28C>A)	gnomAD v4
2	g.235052534C=	CA1336501543	SH3BP4	c.2479-28C= (n.2479-28C=)
2	g.235052534C>T	CA1043639760	SH3BP4	c.2479-28C>T (n.2479-28C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.235052536C>A	CA2663754372	SH3BP4	c.2479-26C>A (n.2479-26C>A)	gnomAD v4
2	g.235052536C>G	CA2663754373	SH3BP4	c.2479-26C>G (n.2479-26C>G)	dbSNP gnomAD v4
2	g.235052536C>T	CA2663754374	SH3BP4	c.2479-26C>T (n.2479-26C>T)	gnomAD v4
2	g.235052537A>G	CA2663754375	SH3BP4	c.2479-25A>G (n.2479-25A>G)	gnomAD v4
2	g.235052538C=	CA1336501544	SH3BP4	c.2479-24C= (n.2479-24C=)
2	g.235052538C>G	CA540444721	SH3BP4	c.2479-24C>G (n.2479-24C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052538C>T	CA540444720	SH3BP4	c.2479-24C>T (n.2479-24C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.235052539G>A	CA2184012	SH3BP4	c.2479-23G>A (n.2479-23G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052539G=	CA1336501545	SH3BP4	c.2479-23G= (n.2479-23G=)
2	g.235052539G>T	CA2184011	SH3BP4	c.2479-23G>T (n.2479-23G>T)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.235052540C>A	CA2663754376	SH3BP4	c.2479-22C>A (n.2479-22C>A)	gnomAD v4
2	g.235052541T>C	CA2663754377	SH3BP4	c.2479-21T>C (n.2479-21T>C)	gnomAD v4
2	g.235052541T>G	CA766410901	SH3BP4	c.2479-21T>G (n.2479-21T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.235052541T=	CA1336501546	SH3BP4	c.2479-21T= (n.2479-21T=)
2	g.235052542G>A	CA766410904	SH3BP4	c.2479-20G>A (n.2479-20G>A)	dbSNP
2	g.235052542G=	CA1336501547	SH3BP4	c.2479-20G= (n.2479-20G=)
2	g.235052542G>T	CA2663754378	SH3BP4	c.2479-20G>T (n.2479-20G>T)	gnomAD v4
2	g.235052544G>A	CA540444722	SH3BP4	c.2479-18G>A (n.2479-18G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052544G=	CA1336501548	SH3BP4	c.2479-18G= (n.2479-18G=)
2	g.235052546G>A	CA2577384627	SH3BP4	c.2479-16G>A (n.2479-16G>A)	gnomAD v4
2	g.235052546G>T	CA2663754379	SH3BP4	c.2479-16G>T (n.2479-16G>T)	gnomAD v4
2	g.235052547C>A	CA2663754380	SH3BP4	c.2479-15C>A (n.2479-15C>A)	gnomAD v4
2	g.235052547C>T	CA2663754381	SH3BP4	c.2479-15C>T (n.2479-15C>T)	gnomAD v4
2	g.235052548C=	CA1336501549	SH3BP4	c.2479-14C= (n.2479-14C=)
2	g.235052548C>G	CA540444723	SH3BP4	c.2479-14C>G (n.2479-14C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052548C>T	CA2663754382	SH3BP4	c.2479-14C>T (n.2479-14C>T)	gnomAD v4
2	g.235052551T>A	CA2754728198	SH3BP4	c.2479-11T>A (n.2479-11T>A)
2	g.235052554_235052556del	CA2663754383	SH3BP4	c.2479-8_2479-6del (n.2479-8_2479-6del)	gnomAD v4
2	g.235052553C=	CA1336501550	SH3BP4	c.2479-9C= (n.2479-9C=)
2	g.235052553C>T	CA1336501551	SH3BP4	c.2479-9C>T (n.2479-9C>T)	dbSNP
2	g.235052554C>A	CA2663754384	SH3BP4	c.2479-8C>A (n.2479-8C>A)	gnomAD v4
2	g.235052554C>T	CA2663754385	SH3BP4	c.2479-8C>T (n.2479-8C>T)	gnomAD v4
2	g.235052555T>C	CA2663754386	SH3BP4	c.2479-7T>C (n.2479-7T>C)	gnomAD v4
2	g.235052556C>A	CA2663754387	SH3BP4	c.2479-6C>A (n.2479-6C>A)	gnomAD v4
2	g.235052556C=	CA1336501552	SH3BP4	c.2479-6C= (n.2479-6C=)
2	g.235052556C>T	CA1336501553	SH3BP4	c.2479-6C>T (n.2479-6C>T)	dbSNP gnomAD v4
2	g.235052558G>A	CA2184013	SH3BP4	c.2479-4G>A (n.2479-4G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052558G=	CA1336501554	SH3BP4	c.2479-4G= (n.2479-4G=)
2	g.235052558G>T	CA2663754388	SH3BP4	c.2479-4G>T (n.2479-4G>T)	gnomAD v4
2	g.235052559C>A	CA540444724	SH3BP4	c.2479-3C>A (n.2479-3C>A)	dbSNP gnomAD v2 gnomAD v4
2	g.235052559C=	CA1336501555	SH3BP4	c.2479-3C= (n.2479-3C=)
2	g.235052559C>T	CA2663754390	SH3BP4	c.2479-3C>T (n.2479-3C>T)	gnomAD v4
2	g.235052560A>C	CA351164762	SH3BP4	c.2479-2A>C (n.2479-2A>C)
2	g.235052560A>G	CA351164763	SH3BP4	c.2479-2A>G (n.2479-2A>G)
2	g.235052560A>T	CA351164764	SH3BP4	c.2479-2A>T (n.2479-2A>T)	gnomAD v4
2	g.235052561G>A	CA351164765	SH3BP4	c.2479-1G>A (n.2479-1G>A)
2	g.235052561G>C	CA351164766	SH3BP4	c.2479-1G>C (n.2479-1G>C)
2	g.235052561G=	CA1336501556	SH3BP4	c.2479-1G= (n.2479-1G=)
2	g.235052561G>T	CA351164767	SH3BP4	c.2479-1G>T (n.2479-1G>T)	dbSNP gnomAD v2
2	g.235052562G>A	CA351164768	SH3BP4	c.2479G>A (p.Ala827Thr)	gnomAD v4
2	g.235052562G>C	CA351164769	SH3BP4	c.2479G>C (p.Ala827Pro)
2	g.235052562G>T	CA351164770	SH3BP4	c.2479G>T (p.Ala827Ser)
2	g.235052563C>A	CA351164771	SH3BP4	c.2480C>A (p.Ala827Asp)	gnomAD v4
2	g.235052563C>G	CA351164773	SH3BP4	c.2480C>G (p.Ala827Gly)
2	g.235052563C>T	CA351164772	SH3BP4	c.2480C>T (p.Ala827Val)	gnomAD v4
2	g.235052565del	CA2754728199	SH3BP4	c.2482del (p.Leu828TyrfsTer2)
2	g.235052564C>A	CA431875737	SH3BP4	c.2481C>A (p.Ala827=)	gnomAD v4
2	g.235052564C=	CA1336501557	SH3BP4	c.2481C= (p.Ala827=)
2	g.235052564C>G	CA431875738	SH3BP4	c.2481C>G (p.Ala827=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052564C>T	CA431875739	SH3BP4	c.2481C>T (p.Ala827=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052565C>A	CA351164774	SH3BP4	c.2482C>A (p.Leu828Ile)	gnomAD v4
2	g.235052565C=	CA1336501558	SH3BP4	c.2482C= (p.Leu828=)
2	g.235052565C>G	CA351164775	SH3BP4	c.2482C>G (p.Leu828Val)
2	g.235052565C>T	CA2184014	SH3BP4	c.2482C>T (p.Leu828=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052566T>A	CA351164776	SH3BP4	c.2483T>A (p.Leu828Gln)
2	g.235052566T>C	CA351164778	SH3BP4	c.2483T>C (p.Leu828Pro)	dbSNP gnomAD v2 gnomAD v4
2	g.235052566T>G	CA351164777	SH3BP4	c.2483T>G (p.Leu828Arg)
2	g.235052566T=	CA1336501559	SH3BP4	c.2483T= (p.Leu828=)
2	g.235052567A=	CA1336501560	SH3BP4	c.2484A= (p.Leu828=)
2	g.235052567A>C	CA431875741	SH3BP4	c.2484A>C (p.Leu828=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052567A>G	CA431875742	SH3BP4	c.2484A>G (p.Leu828=)	dbSNP gnomAD v3 gnomAD v4
2	g.235052567A>T	CA431875740	SH3BP4	c.2484A>T (p.Leu828=)
2	g.235052568C>A	CA351164779	SH3BP4	c.2485C>A (p.Leu829Met)
2	g.235052568C>G	CA351164780	SH3BP4	c.2485C>G (p.Leu829Val)
2	g.235052568C>T	CA431875743	SH3BP4	c.2485C>T (p.Leu829=)
2	g.235052569T>A	CA351164781	SH3BP4	c.2486T>A (p.Leu829Gln)
2	g.235052569T>C	CA351164782	SH3BP4	c.2486T>C (p.Leu829Pro)
2	g.235052569T>G	CA351164783	SH3BP4	c.2486T>G (p.Leu829Arg)
2	g.235052570G>A	CA431875745	SH3BP4	c.2487G>A (p.Leu829=)	dbSNP gnomAD v2 gnomAD v4
2	g.235052570G>C	CA431875744	SH3BP4	c.2487G>C (p.Leu829=)
2	g.235052570G=	CA1336501561	SH3BP4	c.2487G= (p.Leu829=)
2	g.235052570G>T	CA431875746	SH3BP4	c.2487G>T (p.Leu829=)	gnomAD v4
2	g.235052571A=	CA1336501562	SH3BP4	c.2488A= (p.Lys830=)
2	g.235052571A>C	CA351164784	SH3BP4	c.2488A>C (p.Lys830Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052571A>G	CA351164785	SH3BP4	c.2488A>G (p.Lys830Glu)
2	g.235052571A>T	CA351164786	SH3BP4	c.2488A>T (p.Lys830Ter)
2	g.235052572del	CA2663754392	SH3BP4	c.2489del (p.Lys830ArgfsTer18)	gnomAD v4
2	g.235052572A>C	CA351164787	SH3BP4	c.2489A>C (p.Lys830Thr)
2	g.235052572A>G	CA351164788	SH3BP4	c.2489A>G (p.Lys830Arg)	gnomAD v4
2	g.235052572A>T	CA351164789	SH3BP4	c.2489A>T (p.Lys830Met)
2	g.235052573G>A	CA431875747	SH3BP4	c.2490G>A (p.Lys830=)
2	g.235052573G>C	CA351164790	SH3BP4	c.2490G>C (p.Lys830Asn)
2	g.235052573G>T	CA351164791	SH3BP4	c.2490G>T (p.Lys830Asn)	gnomAD v4
2	g.235052574A>C	CA351164794	SH3BP4	c.2491A>C (p.Met831Leu)
2	g.235052574A>G	CA351164792	SH3BP4	c.2491A>G (p.Met831Val)	gnomAD v4
2	g.235052574A>T	CA351164793	SH3BP4	c.2491A>T (p.Met831Leu)	gnomAD v4
2	g.235052575T>A	CA351164795	SH3BP4	c.2492T>A (p.Met831Lys)
2	g.235052575T>C	CA351164796	SH3BP4	c.2492T>C (p.Met831Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.235052575T>G	CA351164797	SH3BP4	c.2492T>G (p.Met831Arg)
2	g.235052575T=	CA1336501563	SH3BP4	c.2492T= (p.Met831=)
2	g.235052576G>A	CA351164798	SH3BP4	c.2493G>A (p.Met831Ile)	dbSNP gnomAD v4
2	g.235052576G>C	CA351164799	SH3BP4	c.2493G>C (p.Met831Ile)
2	g.235052576G=	CA1336501564	SH3BP4	c.2493G= (p.Met831=)
2	g.235052576G>T	CA351164800	SH3BP4	c.2493G>T (p.Met831Ile)	gnomAD v4
2	g.235052577G>A	CA351164801	SH3BP4	c.2494G>A (p.Asp832Asn)	dbSNP gnomAD v4
2	g.235052577G>C	CA351164802	SH3BP4	c.2494G>C (p.Asp832His)
2	g.235052577G=	CA1336501565	SH3BP4	c.2494G= (p.Asp832=)
2	g.235052577G>T	CA351164803	SH3BP4	c.2494G>T (p.Asp832Tyr)
2	g.235052578A>C	CA351164804	SH3BP4	c.2495A>C (p.Asp832Ala)
2	g.235052578A>G	CA351164805	SH3BP4	c.2495A>G (p.Asp832Gly)
2	g.235052578A>T	CA351164806	SH3BP4	c.2495A>T (p.Asp832Val)
2	g.235052579C>A	CA351164807	SH3BP4	c.2496C>A (p.Asp832Glu)
2	g.235052579C=	CA1336501566	SH3BP4	c.2496C= (p.Asp832=)
2	g.235052579C>G	CA351164808	SH3BP4	c.2496C>G (p.Asp832Glu)
2	g.235052579C>T	CA431875748	SH3BP4	c.2496C>T (p.Asp832=)	dbSNP gnomAD v2 gnomAD v4
2	g.235052580T>A	CA351164809	SH3BP4	c.2497T>A (p.Cys833Ser)
2	g.235052580T>C	CA351164810	SH3BP4	c.2497T>C (p.Cys833Arg)
2	g.235052580T>G	CA351164811	SH3BP4	c.2497T>G (p.Cys833Gly)
2	g.235052581G>A	CA351164812	SH3BP4	c.2498G>A (p.Cys833Tyr)	gnomAD v4 COSMIC
2	g.235052581G>C	CA351164813	SH3BP4	c.2498G>C (p.Cys833Ser)
2	g.235052581G>T	CA351164814	SH3BP4	c.2498G>T (p.Cys833Phe)	gnomAD v4
2	g.235052582C>A	CA351164815	SH3BP4	c.2499C>A (p.Cys833Ter)
2	g.235052582C>G	CA351164816	SH3BP4	c.2499C>G (p.Cys833Trp)
2	g.235052582C>T	CA431875749	SH3BP4	c.2499C>T (p.Cys833=)	gnomAD v4
2	g.235052583C>A	CA351164817	SH3BP4	c.2500C>A (p.Gln834Lys)
2	g.235052583C=	CA1336501567	SH3BP4	c.2500C= (p.Gln834=)
2	g.235052583C>G	CA351164818	SH3BP4	c.2500C>G (p.Gln834Glu)
2	g.235052583C>T	CA351164819	SH3BP4	c.2500C>T (p.Gln834Ter)	dbSNP gnomAD v2 gnomAD v4
2	g.235052584A>C	CA351164820	SH3BP4	c.2501A>C (p.Gln834Pro)
2	g.235052584A>G	CA351164821	SH3BP4	c.2501A>G (p.Gln834Arg)	gnomAD v4
2	g.235052584A>T	CA351164822	SH3BP4	c.2501A>T (p.Gln834Leu)	gnomAD v4
2	g.235052585G>A	CA431875750	SH3BP4	c.2502G>A (p.Gln834=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.235052585G>C	CA351164823	SH3BP4	c.2502G>C (p.Gln834His)
2	g.235052585G=	CA1336501568	SH3BP4	c.2502G= (p.Gln834=)
2	g.235052585G>T	CA351164824	SH3BP4	c.2502G>T (p.Gln834His)
2	g.235052587del	CA2663754393	SH3BP4	c.2504del (p.Gly835AlafsTer13)	gnomAD v4
2	g.235052586G>A	CA351164825	SH3BP4	c.2503G>A (p.Gly835Ser)	dbSNP gnomAD v2
2	g.235052586G>C	CA351164826	SH3BP4	c.2503G>C (p.Gly835Arg)
2	g.235052586G=	CA1336501569	SH3BP4	c.2503G= (p.Gly835=)
2	g.235052586G>T	CA351164827	SH3BP4	c.2503G>T (p.Gly835Cys)	gnomAD v4
2	g.235052587G>A	CA351164828	SH3BP4	c.2504G>A (p.Gly835Asp)
2	g.235052587G>C	CA351164829	SH3BP4	c.2504G>C (p.Gly835Ala)
2	g.235052587G>T	CA351164830	SH3BP4	c.2504G>T (p.Gly835Val)	gnomAD v4
2	g.235052588C>A	CA431875751	SH3BP4	c.2505C>A (p.Gly835=)
2	g.235052588C>G	CA431875752	SH3BP4	c.2505C>G (p.Gly835=)
2	g.235052588C>T	CA431875753	SH3BP4	c.2505C>T (p.Gly835=)	gnomAD v4
2	g.235052589C>A	CA351164831	SH3BP4	c.2506C>A (p.Leu836Met)
2	g.235052589C>G	CA351164832	SH3BP4	c.2506C>G (p.Leu836Val)
2	g.235052589C>T	CA431875754	SH3BP4	c.2506C>T (p.Leu836=)
2	g.235052590T>A	CA351164833	SH3BP4	c.2507T>A (p.Leu836Gln)
2	g.235052590T>C	CA351164834	SH3BP4	c.2507T>C (p.Leu836Pro)	gnomAD v4
2	g.235052590T>G	CA351164835	SH3BP4	c.2507T>G (p.Leu836Arg)

Number of alleles fetched