Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.48755782G>A	CA2658995207	STON1-GTF2A1L	c.3442-20498G>A (n.3442-20498G>A)	gnomAD v4
2	g.48755782G>C	CA1030381961	STON1-GTF2A1L	c.3442-20498G>C (n.3442-20498G>C)	gnomAD v3 gnomAD v4
2	g.48755782G>T	CA2658995208	STON1-GTF2A1L	c.3442-20498G>T (n.3442-20498G>T)	gnomAD v4
2	g.48755783dup	CA916530998	STON1-GTF2A1L	c.3442-20497dup (n.3442-20497dup)	dbSNP gnomAD v3 gnomAD v4
2	g.48755783G>A	CA769618577	STON1-GTF2A1L	c.3442-20497G>A (n.3442-20497G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755783G=	CA1248636902	STON1-GTF2A1L	c.3442-20497G= (n.3442-20497G=)
2	g.48755783G>T	CA2658995209	STON1-GTF2A1L	c.3442-20497G>T (n.3442-20497G>T)	gnomAD v4
2	g.48755783_48755784insGCCCC	CA2749837930	STON1-GTF2A1L	c.3442-20497_3442-20496insGCCCC (n.3442-20497_3442-20496insGCCCC)
2	g.48755784C>A	CA2658995211	STON1-GTF2A1L	c.3442-20496C>A (n.3442-20496C>A)	gnomAD v4
2	g.48755784C>G	CA1030381965	STON1-GTF2A1L	c.3442-20496C>G (n.3442-20496C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.48755784C>T	CA2658995210	STON1-GTF2A1L	c.3442-20496C>T (n.3442-20496C>T)	gnomAD v4
2	g.48755785C>A	CA2658995212	STON1-GTF2A1L	c.3442-20495C>A (n.3442-20495C>A)	gnomAD v4
2	g.48755785C>G	CA2658995213	STON1-GTF2A1L	c.3442-20495C>G (n.3442-20495C>G)	gnomAD v4
2	g.48755785C>T	CA2658995214	STON1-GTF2A1L	c.3442-20495C>T (n.3442-20495C>T)	gnomAD v4
2	g.48755786C>A	CA2658995215	STON1-GTF2A1L	c.3442-20494C>A (n.3442-20494C>A)	gnomAD v4
2	g.48755786C=	CA1248636903	STON1-GTF2A1L	c.3442-20494C= (n.3442-20494C=)
2	g.48755786C>G	CA47295599	STON1-GTF2A1L	c.3442-20494C>G (n.3442-20494C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755786C>T	CA532559313	STON1-GTF2A1L	c.3442-20494C>T (n.3442-20494C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755787del	CA1030381971	STON1-GTF2A1L	c.3442-20493del (n.3442-20493del)	gnomAD v3 gnomAD v4
2	g.48755787G>A	CA2658995216	STON1-GTF2A1L	c.3442-20493G>A (n.3442-20493G>A)	gnomAD v4
2	g.48755787G>C	CA532559314	STON1-GTF2A1L	c.3442-20493G>C (n.3442-20493G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755787G=	CA1248636904	STON1-GTF2A1L	c.3442-20493G= (n.3442-20493G=)
2	g.48755787G>T	CA769618590	STON1-GTF2A1L	c.3442-20493G>T (n.3442-20493G>T)	dbSNP gnomAD v4
2	g.48755788C>A	CA2658995217	STON1-GTF2A1L	c.3442-20492C>A (n.3442-20492C>A)	gnomAD v4
2	g.48755788C>T	CA2658995218	STON1-GTF2A1L	c.3442-20492C>T (n.3442-20492C>T)	dbSNP gnomAD v4
2	g.48755789C>A	CA2658995219	STON1-GTF2A1L	c.3442-20491C>A (n.3442-20491C>A)	gnomAD v4
2	g.48755790C>T	CA2658995220	STON1-GTF2A1L	c.3442-20490C>T (n.3442-20490C>T)	gnomAD v4
2	g.48755791C>A	CA2658995221	STON1-GTF2A1L	c.3442-20489C>A (n.3442-20489C>A)	gnomAD v4
2	g.48755791C>G	CA2658995222	STON1-GTF2A1L	c.3442-20489C>G (n.3442-20489C>G)	gnomAD v4
2	g.48755792_48755794del	CA1030381978	STON1-GTF2A1L	c.3442-20488_3442-20486del (n.3442-20488_3442-20486del)	gnomAD v3 gnomAD v4
2	g.48755792T>A	CA1030381980	STON1-GTF2A1L	c.3442-20488T>A (n.3442-20488T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755792T>C	CA532559315	STON1-GTF2A1L	c.3442-20488T>C (n.3442-20488T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755792T>G	CA2749837931	STON1-GTF2A1L	c.3442-20488T>G (n.3442-20488T>G)
2	g.48755792T=	CA1248636905	STON1-GTF2A1L	c.3442-20488T= (n.3442-20488T=)
2	g.48755792_48755793del	CA1030381979	STON1-GTF2A1L	c.3442-20488_3442-20487del (n.3442-20488_3442-20487del)	gnomAD v3 gnomAD v4
2	g.48755793G>A	CA2658995223	STON1-GTF2A1L	c.3442-20487G>A (n.3442-20487G>A)	gnomAD v4
2	g.48755793G>C	CA532559317	STON1-GTF2A1L	c.3442-20487G>C (n.3442-20487G>C)	gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755793G=	CA1248636906	STON1-GTF2A1L	c.3442-20487G= (n.3442-20487G=)
2	g.48755793G>T	CA532559316	STON1-GTF2A1L	c.3442-20487G>T (n.3442-20487G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755794C>A	CA2658995224	STON1-GTF2A1L	c.3442-20486C>A (n.3442-20486C>A)	gnomAD v4
2	g.48755794C>T	CA2658995225	STON1-GTF2A1L	c.3442-20486C>T (n.3442-20486C>T)	gnomAD v4
2	g.48755794_48755796dup	CA1030381985	STON1-GTF2A1L	c.3442-20486_3442-20484dup (n.3442-20486_3442-20484dup)	gnomAD v3 gnomAD v4
2	g.48755795C>A	CA2658995226	STON1-GTF2A1L	c.3442-20485C>A (n.3442-20485C>A)	gnomAD v4
2	g.48755795C>G	CA2658995227	STON1-GTF2A1L	c.3442-20485C>G (n.3442-20485C>G)	gnomAD v4
2	g.48755796C>T	CA2658995228	STON1-GTF2A1L	c.3442-20484C>T (n.3442-20484C>T)	gnomAD v4
2	g.48755796_48755797insCCCCCCCCCCCT	CA2515836603	STON1-GTF2A1L	c.3442-20484_3442-20483insCCCCCCCCCCCT (n.3442-20484_3442-20483insCCCCCCCCCCCT)
2	g.48755797T>A	CA1030381987	STON1-GTF2A1L	c.3442-20483T>A (n.3442-20483T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755797T>C	CA532559318	STON1-GTF2A1L	c.3442-20483T>C (n.3442-20483T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755797T=	CA1248636907	STON1-GTF2A1L	c.3442-20483T= (n.3442-20483T=)
2	g.48755798C>A	CA532559319	STON1-GTF2A1L	c.3442-20482C>A (n.3442-20482C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755798C=	CA1248636908	STON1-GTF2A1L	c.3442-20482C= (n.3442-20482C=)
2	g.48755798C>T	CA2658995230	STON1-GTF2A1L	c.3442-20482C>T (n.3442-20482C>T)	gnomAD v4
2	g.48755802del	CA2658995229	STON1-GTF2A1L	c.3442-20478del (n.3442-20478del)	gnomAD v4
2	g.48755799C>A	CA2658995232	STON1-GTF2A1L	c.3442-20481C>A (n.3442-20481C>A)	gnomAD v4
2	g.48755799C=	CA1248636909	STON1-GTF2A1L	c.3442-20481C= (n.3442-20481C=)
2	g.48755799C>G	CA1248636910	STON1-GTF2A1L	c.3442-20481C>G (n.3442-20481C>G)	dbSNP gnomAD v4
2	g.48755799C>T	CA2658995231	STON1-GTF2A1L	c.3442-20481C>T (n.3442-20481C>T)	gnomAD v4
2	g.48755800C>A	CA2658995233	STON1-GTF2A1L	c.3442-20480C>A (n.3442-20480C>A)	gnomAD v4
2	g.48755800C=	CA1248636911	STON1-GTF2A1L	c.3442-20480C= (n.3442-20480C=)
2	g.48755800C>G	CA47295600	STON1-GTF2A1L	c.3442-20480C>G (n.3442-20480C>G)	dbSNP gnomAD v4
2	g.48755800C>T	CA2658995234	STON1-GTF2A1L	c.3442-20480C>T (n.3442-20480C>T)	gnomAD v4
2	g.48755801C>A	CA2658995236	STON1-GTF2A1L	c.3442-20479C>A (n.3442-20479C>A)	gnomAD v4
2	g.48755801C=	CA1248636912	STON1-GTF2A1L	c.3442-20479C= (n.3442-20479C=)
2	g.48755801C>G	CA1030381991	STON1-GTF2A1L	c.3442-20479C>G (n.3442-20479C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.48755801_48755805del	CA2658995235	STON1-GTF2A1L	c.3442-20479_3442-20475del (n.3442-20479_3442-20475del)	gnomAD v4
2	g.48755802C>A	CA2658995237	STON1-GTF2A1L	c.3442-20478C>A (n.3442-20478C>A)	gnomAD v4
2	g.48755802C=	CA1248636913	STON1-GTF2A1L	c.3442-20478C= (n.3442-20478C=)
2	g.48755802C>G	CA769618608	STON1-GTF2A1L	c.3442-20478C>G (n.3442-20478C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.48755802C>T	CA532559320	STON1-GTF2A1L	c.3442-20478C>T (n.3442-20478C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755803T>A	CA1030381995	STON1-GTF2A1L	c.3442-20477T>A (n.3442-20477T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755803T>C	CA532559321	STON1-GTF2A1L	c.3442-20477T>C (n.3442-20477T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755803T=	CA1248636914	STON1-GTF2A1L	c.3442-20477T= (n.3442-20477T=)
2	g.48755804C=	CA1248636915	STON1-GTF2A1L	c.3442-20476C= (n.3442-20476C=)
2	g.48755804C>G	CA2658995238	STON1-GTF2A1L	c.3442-20476C>G (n.3442-20476C>G)	gnomAD v4
2	g.48755804C>T	CA47295601	STON1-GTF2A1L	c.3442-20476C>T (n.3442-20476C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755805T>A	CA1030382008	STON1-GTF2A1L	c.3442-20475T>A (n.3442-20475T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755805T>C	CA1030382015	STON1-GTF2A1L	c.3442-20475T>C (n.3442-20475T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.48755805T>G	CA2749837937	STON1-GTF2A1L	c.3442-20475T>G (n.3442-20475T>G)
2	g.48755805T=	CA1248636916	STON1-GTF2A1L	c.3442-20475T= (n.3442-20475T=)
2	g.48755806T>G	CA2658995239	STON1-GTF2A1L	c.3442-20474T>G (n.3442-20474T>G)	gnomAD v4
2	g.48755807A=	CA1248636917	STON1-GTF2A1L	c.3442-20473A= (n.3442-20473A=)
2	g.48755807A>C	CA1030382020	STON1-GTF2A1L	c.3442-20473A>C (n.3442-20473A>C)	gnomAD v3 gnomAD v4
2	g.48755807A>G	CA2658995240	STON1-GTF2A1L	c.3442-20473A>G (n.3442-20473A>G)	gnomAD v4
2	g.48755807A>T	CA1030382022	STON1-GTF2A1L	c.3442-20473A>T (n.3442-20473A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.48755808C>A	CA1030382023	STON1-GTF2A1L	c.3442-20472C>A (n.3442-20472C>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755808C>G	CA2658995241	STON1-GTF2A1L	c.3442-20472C>G (n.3442-20472C>G)	gnomAD v4
2	g.48755808C>T	CA2658995242	STON1-GTF2A1L	c.3442-20472C>T (n.3442-20472C>T)	gnomAD v4
2	g.48755809C>A	CA2658995244	STON1-GTF2A1L	c.3442-20471C>A (n.3442-20471C>A)	gnomAD v4
2	g.48755809C=	CA1248636918	STON1-GTF2A1L	c.3442-20471C= (n.3442-20471C=)
2	g.48755809C>T	CA47295602	STON1-GTF2A1L	c.3442-20471C>T (n.3442-20471C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.48755809_48755824del	CA2658995243	STON1-GTF2A1L	c.3442-20471_3442-20456del (n.3442-20471_3442-20456del)	gnomAD v4
2	g.48755810G>A	CA47295603	STON1-GTF2A1L	c.3442-20470G>A (n.3442-20470G>A)	dbSNP gnomAD v4
2	g.48755810G>C	CA1030382028	STON1-GTF2A1L	c.3442-20470G>C (n.3442-20470G>C)	dbSNP gnomAD v3 gnomAD v4
2	g.48755810G=	CA1248636919	STON1-GTF2A1L	c.3442-20470G= (n.3442-20470G=)
2	g.48755810G>T	CA2658995245	STON1-GTF2A1L	c.3442-20470G>T (n.3442-20470G>T)	gnomAD v4
2	g.48755811C>A	CA47295604	STON1-GTF2A1L	c.3442-20469C>A (n.3442-20469C>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755811C=	CA1248636920	STON1-GTF2A1L	c.3442-20469C= (n.3442-20469C=)
2	g.48755811C>G	CA1248636921	STON1-GTF2A1L	c.3442-20469C>G (n.3442-20469C>G)	dbSNP
2	g.48755811C>T	CA2658995246	STON1-GTF2A1L	c.3442-20469C>T (n.3442-20469C>T)	gnomAD v4
2	g.48755812G>A	CA2658995247	STON1-GTF2A1L	c.3442-20468G>A (n.3442-20468G>A)	gnomAD v4
2	g.48755812G>C	CA1030382033	STON1-GTF2A1L	c.3442-20468G>C (n.3442-20468G>C)	gnomAD v3 gnomAD v4
2	g.48755812G>T	CA2658995248	STON1-GTF2A1L	c.3442-20468G>T (n.3442-20468G>T)	gnomAD v4
2	g.48755813C>A	CA2658995249	STON1-GTF2A1L	c.3442-20467C>A (n.3442-20467C>A)	gnomAD v4
2	g.48755814A=	CA1248636922	STON1-GTF2A1L	c.3442-20466A= (n.3442-20466A=)
2	g.48755814A>C	CA1030382035	STON1-GTF2A1L	c.3442-20466A>C (n.3442-20466A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.48755814A>G	CA2658995250	STON1-GTF2A1L	c.3442-20466A>G (n.3442-20466A>G)	gnomAD v4
2	g.48755814A>T	CA2658995251	STON1-GTF2A1L	c.3442-20466A>T (n.3442-20466A>T)	gnomAD v4
2	g.48755815C>A	CA2658995252	STON1-GTF2A1L	c.3442-20465C>A (n.3442-20465C>A)	gnomAD v4
2	g.48755815C=	CA1248636923	STON1-GTF2A1L	c.3442-20465C= (n.3442-20465C=)
2	g.48755815C>G	CA769618627	STON1-GTF2A1L	c.3442-20465C>G (n.3442-20465C>G)	dbSNP
2	g.48755816C>A	CA2658995253	STON1-GTF2A1L	c.3442-20464C>A (n.3442-20464C>A)	gnomAD v4
2	g.48755816C>T	CA2658995254	STON1-GTF2A1L	c.3442-20464C>T (n.3442-20464C>T)	gnomAD v4
2	g.48755817C>A	CA769618638	STON1-GTF2A1L	c.3442-20463C>A (n.3442-20463C>A)	dbSNP
2	g.48755817C=	CA1248636924	STON1-GTF2A1L	c.3442-20463C= (n.3442-20463C=)
2	g.48755817C>T	CA2749837939	STON1-GTF2A1L	c.3442-20463C>T (n.3442-20463C>T)
2	g.48755818C>A	CA2658995255	STON1-GTF2A1L	c.3442-20462C>A (n.3442-20462C>A)	gnomAD v4
2	g.48755818C=	CA1248636927	STON1-GTF2A1L	c.3442-20462C= (n.3442-20462C=)
2	g.48755818C>G	CA1248636926	STON1-GTF2A1L	c.3442-20462C>G (n.3442-20462C>G)	dbSNP gnomAD v4
2	g.48755818C>T	CA1248636925	STON1-GTF2A1L	c.3442-20462C>T (n.3442-20462C>T)	dbSNP gnomAD v4
2	g.48755819G>A	CA2658995256	STON1-GTF2A1L	c.3442-20461G>A (n.3442-20461G>A)	gnomAD v4
2	g.48755819G>C	CA1030382041	STON1-GTF2A1L	c.3442-20461G>C (n.3442-20461G>C)	gnomAD v3 gnomAD v4
2	g.48755819G>T	CA2658995257	STON1-GTF2A1L	c.3442-20461G>T (n.3442-20461G>T)	gnomAD v4
2	g.48755820C>A	CA2658995259	STON1-GTF2A1L	c.3442-20460C>A (n.3442-20460C>A)	gnomAD v4
2	g.48755820C>G	CA2658995260	STON1-GTF2A1L	c.3442-20460C>G (n.3442-20460C>G)	gnomAD v4
2	g.48755820C>T	CA2658995258	STON1-GTF2A1L	c.3442-20460C>T (n.3442-20460C>T)	gnomAD v4
2	g.48755821T>A	CA1248636929	STON1-GTF2A1L	c.3442-20459T>A (n.3442-20459T>A)	dbSNP gnomAD v4
2	g.48755821T>C	CA1030382043	STON1-GTF2A1L	c.3442-20459T>C (n.3442-20459T>C)	gnomAD v3 gnomAD v4
2	g.48755821T=	CA1248636928	STON1-GTF2A1L	c.3442-20459T= (n.3442-20459T=)
2	g.48755822G>C	CA1030382046	STON1-GTF2A1L	c.3442-20458G>C (n.3442-20458G>C)	gnomAD v3 gnomAD v4
2	g.48755822G>T	CA2658995261	STON1-GTF2A1L	c.3442-20458G>T (n.3442-20458G>T)	gnomAD v4
2	g.48755823A=	CA1248636930	STON1-GTF2A1L	c.3442-20457A= (n.3442-20457A=)
2	g.48755823A>G	CA769618639	STON1-GTF2A1L	c.3442-20457A>G (n.3442-20457A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.48755823A>T	CA2658995262	STON1-GTF2A1L	c.3442-20457A>T (n.3442-20457A>T)	gnomAD v4
2	g.48755824G>A	CA2658995264	STON1-GTF2A1L	c.3442-20456G>A (n.3442-20456G>A)	gnomAD v4
2	g.48755824G>C	CA2658995265	STON1-GTF2A1L	c.3442-20456G>C (n.3442-20456G>C)	gnomAD v4
2	g.48755824G>T	CA2658995266	STON1-GTF2A1L	c.3442-20456G>T (n.3442-20456G>T)	gnomAD v4
2	g.48755824_48755825insCAGACTCAGCGGGG	CA2658995263	STON1-GTF2A1L	c.3442-20456_3442-20455insCAGACTCAGCGGGG (n.3442-20456_3442-20455insCAGACTCAGCGGGG)	gnomAD v4
2	g.48755826C>A	CA2658995267	STON1-GTF2A1L	c.3442-20454C>A (n.3442-20454C>A)	gnomAD v4
2	g.48755826C>T	CA2658995268	STON1-GTF2A1L	c.3442-20454C>T (n.3442-20454C>T)	gnomAD v4
2	g.48755827T>C	CA2658995270	STON1-GTF2A1L	c.3442-20453T>C (n.3442-20453T>C)	gnomAD v4
2	g.48755827T>G	CA47295605	STON1-GTF2A1L	c.3442-20453T>G (n.3442-20453T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.48755827T=	CA1248636931	STON1-GTF2A1L	c.3442-20453T= (n.3442-20453T=)
2	g.48755827_48755828del	CA2658995269	STON1-GTF2A1L	c.3442-20453_3442-20452del (n.3442-20453_3442-20452del)	gnomAD v4
2	g.48755828G>A	CA2658995272	STON1-GTF2A1L	c.3442-20452G>A (n.3442-20452G>A)	gnomAD v4
2	g.48755828G>T	CA2658995271	STON1-GTF2A1L	c.3442-20452G>T (n.3442-20452G>T)	gnomAD v4
2	g.48755829C>A	CA2658995273	STON1-GTF2A1L	c.3442-20451C>A (n.3442-20451C>A)	gnomAD v4
2	g.48755829C>G	CA2658995274	STON1-GTF2A1L	c.3442-20451C>G (n.3442-20451C>G)	gnomAD v4
2	g.48755829C>T	CA2658995275	STON1-GTF2A1L	c.3442-20451C>T (n.3442-20451C>T)	gnomAD v4
2	g.48755830T>C	CA2658995276	STON1-GTF2A1L	c.3442-20450T>C (n.3442-20450T>C)	gnomAD v4
2	g.48755831C>A	CA2658995278	STON1-GTF2A1L	c.3442-20449C>A (n.3442-20449C>A)	gnomAD v4
2	g.48755831C>T	CA2658995279	STON1-GTF2A1L	c.3442-20449C>T (n.3442-20449C>T)	gnomAD v4
2	g.48755831_48755835del	CA2658995277	STON1-GTF2A1L	c.3442-20449_3442-20445del (n.3442-20449_3442-20445del)	gnomAD v4
2	g.48755832T>C	CA2658995280	STON1-GTF2A1L	c.3442-20448T>C (n.3442-20448T>C)	gnomAD v4
2	g.48755833G>A	CA2658995281	STON1-GTF2A1L	c.3442-20447G>A (n.3442-20447G>A)	gnomAD v4
2	g.48755833G>T	CA2658995282	STON1-GTF2A1L	c.3442-20447G>T (n.3442-20447G>T)	gnomAD v4
2	g.48755834C>A	CA2658995283	STON1-GTF2A1L	c.3442-20446C>A (n.3442-20446C>A)	gnomAD v4
2	g.48755834C>T	CA2658995284	STON1-GTF2A1L	c.3442-20446C>T (n.3442-20446C>T)	gnomAD v4
2	g.48755835C>A	CA2658995285	STON1-GTF2A1L	c.3442-20445C>A (n.3442-20445C>A)	gnomAD v4
2	g.48755835C=	CA1248636932	STON1-GTF2A1L	c.3442-20445C= (n.3442-20445C=)
2	g.48755835C>T	CA47295606	STON1-GTF2A1L	c.3442-20445C>T (n.3442-20445C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.48755836T>C	CA2658995286	STON1-GTF2A1L	c.3442-20444T>C (n.3442-20444T>C)	gnomAD v4
2	g.48755838G>A	CA2658995287	STON1-GTF2A1L	c.3442-20442G>A (n.3442-20442G>A)	gnomAD v4
2	g.48755838G>T	CA2658995288	STON1-GTF2A1L	c.3442-20442G>T (n.3442-20442G>T)	gnomAD v4
2	g.48755839A>G	CA2658995290	STON1-GTF2A1L	c.3442-20441A>G (n.3442-20441A>G)	gnomAD v4
2	g.48755839_48755850del	CA2658995289	STON1-GTF2A1L	c.3442-20441_3442-20430del (n.3442-20441_3442-20430del)	gnomAD v4
2	g.48755840C>A	CA2658995291	STON1-GTF2A1L	c.3442-20440C>A (n.3442-20440C>A)	gnomAD v4
2	g.48755840C>T	CA2749837942	STON1-GTF2A1L	c.3442-20440C>T (n.3442-20440C>T)
2	g.48755841C>A	CA2658995292	STON1-GTF2A1L	c.3442-20439C>A (n.3442-20439C>A)	gnomAD v4
2	g.48755841C=	CA1248636933	STON1-GTF2A1L	c.3442-20439C= (n.3442-20439C=)
2	g.48755841C>T	CA47295607	STON1-GTF2A1L	c.3442-20439C>T (n.3442-20439C>T)	dbSNP
2	g.48755842T>A	CA2658995293	STON1-GTF2A1L	c.3442-20438T>A (n.3442-20438T>A)	gnomAD v4
2	g.48755842T>C	CA2658995294	STON1-GTF2A1L	c.3442-20438T>C (n.3442-20438T>C)	gnomAD v4
2	g.48755842_48755845dup	CA532559322	STON1-GTF2A1L	c.3442-20438_3442-20435dup (n.3442-20438_3442-20435dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755843G>A	CA2658995295	STON1-GTF2A1L	c.3442-20437G>A (n.3442-20437G>A)	gnomAD v4
2	g.48755843G>T	CA2658995296	STON1-GTF2A1L	c.3442-20437G>T (n.3442-20437G>T)	gnomAD v4
2	g.48755844C>A	CA2658995297	STON1-GTF2A1L	c.3442-20436C>A (n.3442-20436C>A)	gnomAD v4
2	g.48755844C>T	CA2658995298	STON1-GTF2A1L	c.3442-20436C>T (n.3442-20436C>T)	gnomAD v4
2	g.48755845G>A	CA1248636935	STON1-GTF2A1L	c.3442-20435G>A (n.3442-20435G>A)	dbSNP gnomAD v4
2	g.48755845G=	CA1248636934	STON1-GTF2A1L	c.3442-20435G= (n.3442-20435G=)
2	g.48755845G>T	CA2658995299	STON1-GTF2A1L	c.3442-20435G>T (n.3442-20435G>T)	gnomAD v4
2	g.48755846A=	CA1248636936	STON1-GTF2A1L	c.3442-20434A= (n.3442-20434A=)
2	g.48755846A>G	CA47295608	STON1-GTF2A1L	c.3442-20434A>G (n.3442-20434A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755847C>A	CA2658995300	STON1-GTF2A1L	c.3442-20433C>A (n.3442-20433C>A)	gnomAD v4
2	g.48755848A=	CA1248636937	STON1-GTF2A1L	c.3442-20432A= (n.3442-20432A=)
2	g.48755848A>G	CA1248636938	STON1-GTF2A1L	c.3442-20432A>G (n.3442-20432A>G)	dbSNP gnomAD v4
2	g.48755848A>T	CA1030382055	STON1-GTF2A1L	c.3442-20432A>T (n.3442-20432A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.48755849G>A	CA2658995301	STON1-GTF2A1L	c.3442-20431G>A (n.3442-20431G>A)	gnomAD v4
2	g.48755849G>T	CA2658995302	STON1-GTF2A1L	c.3442-20431G>T (n.3442-20431G>T)	gnomAD v4
2	g.48755850T>A	CA2658995303	STON1-GTF2A1L	c.3442-20430T>A (n.3442-20430T>A)	gnomAD v4
2	g.48755850T>G	CA2658995304	STON1-GTF2A1L	c.3442-20430T>G (n.3442-20430T>G)	gnomAD v4
2	g.48755851G>A	CA2658995305	STON1-GTF2A1L	c.3442-20429G>A (n.3442-20429G>A)	gnomAD v4
2	g.48755851G=	CA1248636939	STON1-GTF2A1L	c.3442-20429G= (n.3442-20429G=)
2	g.48755851G>T	CA1248636940	STON1-GTF2A1L	c.3442-20429G>T (n.3442-20429G>T)	dbSNP gnomAD v4
2	g.48755852C>A	CA2597586190	STON1-GTF2A1L	c.3442-20428C>A (n.3442-20428C>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755852C>T	CA2658995307	STON1-GTF2A1L	c.3442-20428C>T (n.3442-20428C>T)	gnomAD v4
2	g.48755854del	CA2658995306	STON1-GTF2A1L	c.3442-20426del (n.3442-20426del)	gnomAD v4
2	g.48755853C>A	CA2658995308	STON1-GTF2A1L	c.3442-20427C>A (n.3442-20427C>A)	gnomAD v4
2	g.48755854C>A	CA2658995309	STON1-GTF2A1L	c.3442-20426C>A (n.3442-20426C>A)	gnomAD v4
2	g.48755854C=	CA1248636941	STON1-GTF2A1L	c.3442-20426C= (n.3442-20426C=)
2	g.48755854C>G	CA769618646	STON1-GTF2A1L	c.3442-20426C>G (n.3442-20426C>G)	dbSNP
2	g.48755854C>T	CA2749837946	STON1-GTF2A1L	c.3442-20426C>T (n.3442-20426C>T)
2	g.48755856del	CA2658995310	STON1-GTF2A1L	c.3442-20424del (n.3442-20424del)	gnomAD v4
2	g.48755856G>A	CA2658995311	STON1-GTF2A1L	c.3442-20424G>A (n.3442-20424G>A)	gnomAD v4
2	g.48755856G>T	CA2658995312	STON1-GTF2A1L	c.3442-20424G>T (n.3442-20424G>T)	gnomAD v4
2	g.48755857T>C	CA2658995313	STON1-GTF2A1L	c.3442-20423T>C (n.3442-20423T>C)	dbSNP gnomAD v4
2	g.48755858G>A	CA2658995316	STON1-GTF2A1L	c.3442-20422G>A (n.3442-20422G>A)	gnomAD v4
2	g.48755858G>C	CA2658995314	STON1-GTF2A1L	c.3442-20422G>C (n.3442-20422G>C)	gnomAD v4
2	g.48755858G>T	CA2658995315	STON1-GTF2A1L	c.3442-20422G>T (n.3442-20422G>T)	gnomAD v4
2	g.48755860_48755863dup	CA2658995317	STON1-GTF2A1L	c.3442-20420_3442-20417dup (n.3442-20420_3442-20417dup)	gnomAD v4
2	g.48755860C>A	CA47295609	STON1-GTF2A1L	c.3442-20420C>A (n.3442-20420C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755860C=	CA1248636942	STON1-GTF2A1L	c.3442-20420C= (n.3442-20420C=)
2	g.48755862del	CA2658995318	STON1-GTF2A1L	c.3442-20418del (n.3442-20418del)	gnomAD v4
2	g.48755861C>A	CA2658995319	STON1-GTF2A1L	c.3442-20419C>A (n.3442-20419C>A)	gnomAD v4
2	g.48755861C>T	CA2658995320	STON1-GTF2A1L	c.3442-20419C>T (n.3442-20419C>T)	gnomAD v4
2	g.48755862C>A	CA2658995321	STON1-GTF2A1L	c.3442-20418C>A (n.3442-20418C>A)	gnomAD v4
2	g.48755862C=	CA1248636943	STON1-GTF2A1L	c.3442-20418C= (n.3442-20418C=)
2	g.48755862C>G	CA2658995322	STON1-GTF2A1L	c.3442-20418C>G (n.3442-20418C>G)	gnomAD v4
2	g.48755862C>T	CA1248636944	STON1-GTF2A1L	c.3442-20418C>T (n.3442-20418C>T)	dbSNP gnomAD v4
2	g.48755863A=	CA1248636945	STON1-GTF2A1L	c.3442-20417A= (n.3442-20417A=)
2	g.48755863A>G	CA47295610	STON1-GTF2A1L	c.3442-20417A>G (n.3442-20417A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755864A=	CA1248636946	STON1-GTF2A1L	c.3442-20416A= (n.3442-20416A=)
2	g.48755864A>C	CA2658995323	STON1-GTF2A1L	c.3442-20416A>C (n.3442-20416A>C)	gnomAD v4
2	g.48755864A>G	CA1248636947	STON1-GTF2A1L	c.3442-20416A>G (n.3442-20416A>G)	dbSNP gnomAD v4
2	g.48755865T>A	CA2658995324	STON1-GTF2A1L	c.3442-20415T>A (n.3442-20415T>A)	gnomAD v4
2	g.48755865T>G	CA2658995325	STON1-GTF2A1L	c.3442-20415T>G (n.3442-20415T>G)	gnomAD v4
2	g.48755866A>C	CA2658995326	STON1-GTF2A1L	c.3442-20414A>C (n.3442-20414A>C)	gnomAD v4
2	g.48755867A>C	CA1030382061	STON1-GTF2A1L	c.3442-20413A>C (n.3442-20413A>C)	gnomAD v3 gnomAD v4
2	g.48755868C>A	CA47295612	STON1-GTF2A1L	c.3442-20412C>A (n.3442-20412C>A)	dbSNP gnomAD v3 gnomAD v4
2	g.48755868C=	CA1248636948	STON1-GTF2A1L	c.3442-20412C= (n.3442-20412C=)
2	g.48755868C>T	CA47295611	STON1-GTF2A1L	c.3442-20412C>T (n.3442-20412C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.48755871_48755873del	CA2658995327	STON1-GTF2A1L	c.3442-20409_3442-20407del (n.3442-20409_3442-20407del)	gnomAD v4
2	g.48755869C>A	CA2658995328	STON1-GTF2A1L	c.3442-20411C>A (n.3442-20411C>A)	gnomAD v4
2	g.48755869C>T	CA2658995329	STON1-GTF2A1L	c.3442-20411C>T (n.3442-20411C>T)	gnomAD v4
2	g.48755870T>A	CA2658995330	STON1-GTF2A1L	c.3442-20410T>A (n.3442-20410T>A)	gnomAD v4
2	g.48755870T>C	CA2658995331	STON1-GTF2A1L	c.3442-20410T>C (n.3442-20410T>C)	gnomAD v4
2	g.48755870T>G	CA2658995332	STON1-GTF2A1L	c.3442-20410T>G (n.3442-20410T>G)	gnomAD v4
2	g.48755871C>T	CA2658995333	STON1-GTF2A1L	c.3442-20409C>T (n.3442-20409C>T)	gnomAD v4
2	g.48755872C=	CA1248636949	STON1-GTF2A1L	c.3442-20408C= (n.3442-20408C=)
2	g.48755872C>T	CA1030382065	STON1-GTF2A1L	c.3442-20408C>T (n.3442-20408C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.48755873T>A	CA2658995334	STON1-GTF2A1L	c.3442-20407T>A (n.3442-20407T>A)	gnomAD v4
2	g.48755875C>A	CA2658995335	STON1-GTF2A1L	c.3442-20405C>A (n.3442-20405C>A)	gnomAD v4
2	g.48755876C>A	CA2658995336	STON1-GTF2A1L	c.3442-20404C>A (n.3442-20404C>A)	gnomAD v4
2	g.48755876C>G	CA2658995337	STON1-GTF2A1L	c.3442-20404C>G (n.3442-20404C>G)	gnomAD v4
2	g.48755876C>T	CA2699222936	STON1-GTF2A1L	c.3442-20404C>T (n.3442-20404C>T)	dbSNP
2	g.48755877del	CA2658995338	STON1-GTF2A1L	c.3442-20403del (n.3442-20403del)	gnomAD v4
2	g.48755877T>A	CA2658995339	STON1-GTF2A1L	c.3442-20403T>A (n.3442-20403T>A)	gnomAD v4
2	g.48755877T>C	CA1030382066	STON1-GTF2A1L	c.3442-20403T>C (n.3442-20403T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.48755877T=	CA1248636950	STON1-GTF2A1L	c.3442-20403T= (n.3442-20403T=)
2	g.48755878G>A	CA2699222938	STON1-GTF2A1L	c.3442-20402G>A (n.3442-20402G>A)	dbSNP
2	g.48755878G>T	CA2658995340	STON1-GTF2A1L	c.3442-20402G>T (n.3442-20402G>T)	gnomAD v4
2	g.48755879C>A	CA2658995342	STON1-GTF2A1L	c.3442-20401C>A (n.3442-20401C>A)	gnomAD v4
2	g.48755879C>T	CA2658995341	STON1-GTF2A1L	c.3442-20401C>T (n.3442-20401C>T)	gnomAD v4
2	g.48755880T>C	CA2658995343	STON1-GTF2A1L	c.3442-20400T>C (n.3442-20400T>C)	gnomAD v4
2	g.48755881A=	CA1248636951	STON1-GTF2A1L	c.3442-20399A= (n.3442-20399A=)
2	g.48755881A>G	CA769618651	STON1-GTF2A1L	c.3442-20399A>G (n.3442-20399A>G)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched