Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.96293092del	CA2751317105	SNRNP200	c.2041del (p.Arg681ValfsTer24)
2	g.96293092G>A	CA52399865	SNRNP200	c.2040C>T (p.Phe680=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.96293092G>C	CA347679562	SNRNP200	c.2040C>G (p.Phe680Leu)	gnomAD v4
2	g.96293092G=	CA1272543504	SNRNP200	c.2040C= (p.Phe680=)
2	g.96293092G>T	CA347679564	SNRNP200	c.2040C>A (p.Phe680Leu)
2	g.96293093A>C	CA347679568	SNRNP200	c.2039T>G (p.Phe680Cys)
2	g.96293093A>G	CA347679569	SNRNP200	c.2039T>C (p.Phe680Ser)
2	g.96293093A>T	CA347679572	SNRNP200	c.2039T>A (p.Phe680Tyr)
2	g.96293094A>C	CA347679574	SNRNP200	c.2038T>G (p.Phe680Val)
2	g.96293094A>G	CA347679577	SNRNP200	c.2038T>C (p.Phe680Leu)
2	g.96293094A>T	CA347679580	SNRNP200	c.2038T>A (p.Phe680Ile)
2	g.96293095G>A	CA427500174	SNRNP200	c.2037C>T (p.Ser679=)
2	g.96293095G>C	CA347679583	SNRNP200	c.2037C>G (p.Ser679Arg)
2	g.96293095G>T	CA347679585	SNRNP200	c.2037C>A (p.Ser679Arg)
2	g.96293096C>A	CA347679593	SNRNP200	c.2037-1G>T (n.2037-1G>T)
2	g.96293096C>G	CA347679591	SNRNP200	c.2037-1G>C (n.2037-1G>C)
2	g.96293096C>T	CA347679588	SNRNP200	c.2037-1G>A (n.2037-1G>A)
2	g.96293097T>A	CA347679595	SNRNP200	c.2037-2A>T (n.2037-2A>T)
2	g.96293097T>C	CA347679598	SNRNP200	c.2037-2A>G (n.2037-2A>G)
2	g.96293097T>G	CA347679600	SNRNP200	c.2037-2A>C (n.2037-2A>C)
2	g.96293100_96293102del	CA427500176	SNRNP200	c.2037-5_2037-3del (n.2037-5_2037-3del)
2	g.96293099G>A	CA1272543506	SNRNP200	c.2037-4C>T (n.2037-4C>T)	dbSNP
2	g.96293099G>C	CA534376450	SNRNP200	c.2037-4C>G (n.2037-4C>G)	dbSNP gnomAD v2
2	g.96293099G=	CA1272543505	SNRNP200	c.2037-4C= (n.2037-4C=)
2	g.96293099G>T	CA2660186180	SNRNP200	c.2037-4C>A (n.2037-4C>A)	gnomAD v4
2	g.96293103T>A	CA2660186181	SNRNP200	c.2037-8A>T (n.2037-8A>T)	gnomAD v4
2	g.96293103_96293106del	CA2751317109	SNRNP200	c.2037-11_2037-8del (n.2037-11_2037-8del)
2	g.96293104_96293138dup	CA2660186183	SNRNP200	c.2037-42_2037-8dup (n.2037-42_2037-8dup)	gnomAD v4
2	g.96293104T>C	CA2660186184	SNRNP200	c.2037-9A>G (n.2037-9A>G)	gnomAD v4
2	g.96293105C=	CA1272543507	SNRNP200	c.2037-10G= (n.2037-10G=)
2	g.96293105C>G	CA534376451	SNRNP200	c.2037-10G>C (n.2037-10G>C)	dbSNP gnomAD v2 gnomAD v4
2	g.96293105C>T	CA2660186185	SNRNP200	c.2037-10G>A (n.2037-10G>A)	gnomAD v4
2	g.96293108C>A	CA534376452	SNRNP200	c.2037-13G>T (n.2037-13G>T)	dbSNP gnomAD v2 gnomAD v4
2	g.96293108C=	CA1272543508	SNRNP200	c.2037-13G= (n.2037-13G=)
2	g.96293108C>G	CA1272543509	SNRNP200	c.2037-13G>C (n.2037-13G>C)	dbSNP gnomAD v4
2	g.96293108C>T	CA1272543510	SNRNP200	c.2037-13G>A (n.2037-13G>A)	dbSNP gnomAD v4
2	g.96293109A>G	CA2660186186	SNRNP200	c.2037-14T>C (n.2037-14T>C)	gnomAD v4
2	g.96293111T>C	CA534376453	SNRNP200	c.2037-16A>G (n.2037-16A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.96293111T=	CA1272543511	SNRNP200	c.2037-16A= (n.2037-16A=)
2	g.96293112T=	CA1272543512	SNRNP200	c.2037-17A= (n.2037-17A=)
2	g.96293113A>G	CA2660186187	SNRNP200	c.2037-18T>C (n.2037-18T>C)	gnomAD v4
2	g.96293113dup	CA1778783	SNRNP200	c.2037-18dup (n.2037-18dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.96293114G>A	CA2660186188	SNRNP200	c.2037-19C>T (n.2037-19C>T)	gnomAD v4
2	g.96293119dup	CA2660186189	SNRNP200	c.2037-22dup (n.2037-22dup)	gnomAD v4
2	g.96293118A=	CA1272543513	SNRNP200	c.2037-23T= (n.2037-23T=)
2	g.96293118A>T	CA1778784	SNRNP200	c.2037-23T>A (n.2037-23T>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96293120T>C	CA52399892	SNRNP200	c.2037-25A>G (n.2037-25A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.96293120T=	CA1272543514	SNRNP200	c.2037-25A= (n.2037-25A=)
2	g.96293121G>A	CA1272543516	SNRNP200	c.2037-26C>T (n.2037-26C>T)	dbSNP
2	g.96293121G>C	CA1778785	SNRNP200	c.2037-26C>G (n.2037-26C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.96293121G=	CA1272543515	SNRNP200	c.2037-26C= (n.2037-26C=)
2	g.96293122A>G	CA2660186190	SNRNP200	c.2037-27T>C (n.2037-27T>C)	gnomAD v4
2	g.96293124del	CA2751317113	SNRNP200	c.2037-28del (n.2037-28del)
2	g.96293124G>A	CA2660186191	SNRNP200	c.2037-29C>T (n.2037-29C>T)	gnomAD v4
2	g.96293124G=	CA1272543517	SNRNP200	c.2037-29C= (n.2037-29C=)
2	g.96293124G>T	CA534376456	SNRNP200	c.2037-29C>A (n.2037-29C>A)	dbSNP gnomAD v2 gnomAD v4
2	g.96293136_96293292del	CA2751317116	SNRNP200	c.2036+33_2037-32del (n.2036+33_2037-32del)
2	g.96293128T>C	CA895728792	SNRNP200	c.2037-33A>G (n.2037-33A>G)	dbSNP gnomAD v4
2	g.96293128T=	CA1272543518	SNRNP200	c.2037-33A= (n.2037-33A=)
2	g.96293129G>A	CA2660186192	SNRNP200	c.2037-34C>T (n.2037-34C>T)	gnomAD v4
2	g.96293129G>C	CA2660186193	SNRNP200	c.2037-34C>G (n.2037-34C>G)	gnomAD v4
2	g.96293129_96293135del	CA2751317117	SNRNP200	c.2037-40_2037-34del (n.2037-40_2037-34del)
2	g.96293131C=	CA1272543519	SNRNP200	c.2037-36G= (n.2037-36G=)
2	g.96293131C>G	CA534376459	SNRNP200	c.2037-36G>C (n.2037-36G>C)	dbSNP gnomAD v2
2	g.96293132A>T	CA2660186194	SNRNP200	c.2037-37T>A (n.2037-37T>A)	gnomAD v4
2	g.96293132_96293133insCAC	CA2751317118	SNRNP200	c.2037-38_2037-37insGTG (n.2037-38_2037-37insGTG)
2	g.96293132_96293133insCAG	CA2751317119	SNRNP200	c.2037-38_2037-37insCTG (n.2037-38_2037-37insCTG)
2	g.96293133G>C	CA2660186195	SNRNP200	c.2037-38C>G (n.2037-38C>G)	gnomAD v4
2	g.96293133G=	CA1272543520	SNRNP200	c.2037-38C= (n.2037-38C=)
2	g.96293137dup	CA1272543521	SNRNP200	c.2037-39dup (n.2037-39dup)	dbSNP
2	g.96293135A>C	CA2751317120	SNRNP200	c.2037-40T>G (n.2037-40T>G)
2	g.96293137A>C	CA2751317122	SNRNP200	c.2037-42T>G (n.2037-42T>G)
2	g.96293137_96293143del	CA2751317121	SNRNP200	c.2037-48_2037-42del (n.2037-48_2037-42del)
2	g.96293138del	CA2751317123	SNRNP200	c.2037-43del (n.2037-43del)
2	g.96293138T>C	CA1272543523	SNRNP200	c.2037-43A>G (n.2037-43A>G)	dbSNP gnomAD v4
2	g.96293138T=	CA1272543522	SNRNP200	c.2037-43A= (n.2037-43A=)
2	g.96293139A=	CA1272543524	SNRNP200	c.2037-44T= (n.2037-44T=)
2	g.96293139A>C	CA895728793	SNRNP200	c.2037-44T>G (n.2037-44T>G)	dbSNP
2	g.96293139_96293140insG	CA2751317126	SNRNP200	c.2037-45_2037-44insC (n.2037-45_2037-44insC)
2	g.96293139_96293140insGAT	CA2751317124	SNRNP200	c.2037-45_2037-44insATC (n.2037-45_2037-44insATC)
2	g.96293140C>A	CA2660186196	SNRNP200	c.2037-45G>T (n.2037-45G>T)	gnomAD v4
2	g.96293140_96293145del	CA2751317125	SNRNP200	c.2037-50_2037-45del (n.2037-50_2037-45del)
2	g.96293144_96293242del	CA2751317127	SNRNP200	c.2036+76_2037-47del (n.2036+76_2037-47del)
2	g.96293143_96293266del	CA2751317128	SNRNP200	c.2036+51_2037-47del (n.2036+51_2037-47del)
2	g.96293142_96293143insACTT	CA2751317129	SNRNP200	c.2037-48_2037-47insAAGT (n.2037-48_2037-47insAAGT)
2	g.96293143T>A	CA427500178	SNRNP200	c.2037-48A>T (n.2037-48A>T)	dbSNP gnomAD v2
2	g.96293143T>C	CA2751317130	SNRNP200	c.2037-48A>G (n.2037-48A>G)
2	g.96293143T=	CA1272543525	SNRNP200	c.2037-48A= (n.2037-48A=)
2	g.96293143_96293144insAGA	CA2751317131	SNRNP200	c.2037-49_2037-48insTCT (n.2037-49_2037-48insTCT)
2	g.96293144G>A	CA895728794	SNRNP200	c.2037-49C>T (n.2037-49C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.96293144G=	CA1272543526	SNRNP200	c.2037-49C= (n.2037-49C=)
2	g.96293145G>A	CA2660186197	SNRNP200	c.2037-50C>T (n.2037-50C>T)	gnomAD v4
2	g.96293145_96293146insA	CA2751317132	SNRNP200	c.2037-51_2037-50insT (n.2037-51_2037-50insT)
2	g.96293146G>A	CA2660186198	SNRNP200	c.2037-51C>T (n.2037-51C>T)	gnomAD v4
2	g.96293146_96293149del	CA2751317133	SNRNP200	c.2037-54_2037-51del (n.2037-54_2037-51del)
2	g.96293149_96293151del	CA2751317134	SNRNP200	c.2037-54_2037-52del (n.2037-54_2037-52del)
2	g.96293151A>C	CA2751317135	SNRNP200	c.2037-56T>G (n.2037-56T>G)
2	g.96293151A>G	CA2751317136	SNRNP200	c.2037-56T>C (n.2037-56T>C)
2	g.96293151A>T	CA2577035105	SNRNP200	c.2037-56T>A (n.2037-56T>A)
2	g.96293151_96293153delinsAAC	CA1272543527	SNRNP200	c.2037-58_2037-56delinsGTT (n.2037-58_2037-56delinsGTT)
2	g.96293153_96293154del	CA895728796	SNRNP200	c.2037-58_2037-57del (n.2037-58_2037-57del)	dbSNP gnomAD v3 gnomAD v4
2	g.96293154A=	CA1272543528	SNRNP200	c.2037-59T= (n.2037-59T=)
2	g.96293154A>C	CA1272543529	SNRNP200	c.2037-59T>G (n.2037-59T>G)	dbSNP
2	g.96293154A>T	CA2751317137	SNRNP200	c.2037-59T>A (n.2037-59T>A)
2	g.96293156T>A	CA895728800	SNRNP200	c.2037-61A>T (n.2037-61A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.96293156T>C	CA895728797	SNRNP200	c.2037-61A>G (n.2037-61A>G)	dbSNP
2	g.96293156T=	CA1272543530	SNRNP200	c.2037-61A= (n.2037-61A=)
2	g.96293157C=	CA1272543531	SNRNP200	c.2037-62G= (n.2037-62G=)
2	g.96293157C>G	CA52399905	SNRNP200	c.2037-62G>C (n.2037-62G>C)	dbSNP
2	g.96293157_96293158insACA	CA2751317138	SNRNP200	c.2037-63_2037-62insTGT (n.2037-63_2037-62insTGT)
2	g.96293159_96293163del	CA2751317139	SNRNP200	c.2037-68_2037-64del (n.2037-68_2037-64del)
2	g.96293159_96293160insAG	CA2751317141	SNRNP200	c.2037-65_2037-64insCT (n.2037-65_2037-64insCT)
2	g.96293159_96293160insACC	CA2751317140	SNRNP200	c.2037-65_2037-64insGGT (n.2037-65_2037-64insGGT)
2	g.96293159_96293160insAGA	CA2751317142	SNRNP200	c.2037-65_2037-64insTCT (n.2037-65_2037-64insTCT)
2	g.96293160T>A	CA2751317143	SNRNP200	c.2037-65A>T (n.2037-65A>T)
2	g.96293160_96293161insACA	CA2751317144	SNRNP200	c.2037-66_2037-65insTGT (n.2037-66_2037-65insTGT)
2	g.96293161T>C	CA1033977801	SNRNP200	c.2037-66A>G (n.2037-66A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.96293161T>G	CA2751317145	SNRNP200	c.2037-66A>C (n.2037-66A>C)
2	g.96293161T=	CA1272543532	SNRNP200	c.2037-66A= (n.2037-66A=)
2	g.96293161_96293162insAGA	CA2751317146	SNRNP200	c.2037-67_2037-66insTCT (n.2037-67_2037-66insTCT)
2	g.96293162T>C	CA2660186199	SNRNP200	c.2037-67A>G (n.2037-67A>G)	gnomAD v4
2	g.96293162_96293163insACC	CA2751317147	SNRNP200	c.2037-68_2037-67insGGT (n.2037-68_2037-67insGGT)
2	g.96293163del	CA2751317148	SNRNP200	c.2037-68del (n.2037-68del)
2	g.96293166_96293169del	CA2751317149	SNRNP200	c.2037-73_2037-70del (n.2037-73_2037-70del)
2	g.96293166T>C	CA2660186200	SNRNP200	c.2037-71A>G (n.2037-71A>G)	gnomAD v4
2	g.96293166_96293167delinsTG	CA1272543533	SNRNP200	c.2037-72_2037-71delinsCA (n.2037-72_2037-71delinsCA)
2	g.96293166_96293172del	CA2751317150	SNRNP200	c.2037-77_2037-71del (n.2037-77_2037-71del)
2	g.96293171_96293300del	CA2751317151	SNRNP200	c.2036+21_2037-71del (n.2036+21_2037-71del)
2	g.96293167del	CA895728803	SNRNP200	c.2037-72del (n.2037-72del)	dbSNP
2	g.96293167G>A	CA2660186201	SNRNP200	c.2037-72C>T (n.2037-72C>T)	gnomAD v4
2	g.96293167G>T	CA2577035106	SNRNP200	c.2037-72C>A (n.2037-72C>A)	gnomAD v4
2	g.96293168_96293259del	CA2751317152	SNRNP200	c.2036+58_2037-72del (n.2036+58_2037-72del)
2	g.96293168C>T	CA2660186202	SNRNP200	c.2037-73G>A (n.2037-73G>A)	gnomAD v4
2	g.96293169C>A	CA2751317154	SNRNP200	c.2037-74G>T (n.2037-74G>T)
2	g.96293169C=	CA1272543534	SNRNP200	c.2037-74G= (n.2037-74G=)
2	g.96293169C>T	CA895728820	SNRNP200	c.2037-74G>A (n.2037-74G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.96293169_96293172del	CA2751317153	SNRNP200	c.2037-77_2037-74del (n.2037-77_2037-74del)
2	g.96293169_96293170insAG	CA2751317155	SNRNP200	c.2037-75_2037-74insCT (n.2037-75_2037-74insCT)
2	g.96293170C>A	CA2751317157	SNRNP200	c.2037-75G>T (n.2037-75G>T)
2	g.96293170C>T	CA2751317158	SNRNP200	c.2037-75G>A (n.2037-75G>A)
2	g.96293170_96293172del	CA2751317156	SNRNP200	c.2037-77_2037-75del (n.2037-77_2037-75del)
2	g.96293172_96293188dup	CA2660186203	SNRNP200	c.2037-91_2037-75dup (n.2037-91_2037-75dup)	dbSNP gnomAD v4
2	g.96293171C>G	CA2751317161	SNRNP200	c.2037-76G>C (n.2037-76G>C)
2	g.96293171C>T	CA2699990165	SNRNP200	c.2037-76G>A (n.2037-76G>A)	dbSNP
2	g.96293171_96293172del	CA2751317160	SNRNP200	c.2037-77_2037-76del (n.2037-77_2037-76del)
2	g.96293172A>G	CA2660186204	SNRNP200	c.2037-77T>C (n.2037-77T>C)	gnomAD v4
2	g.96293173del	CA2751317163	SNRNP200	c.2037-77del (n.2037-77del)
2	g.96293172_96293173insCAT	CA2751317164	SNRNP200	c.2037-78_2037-77insATG (n.2037-78_2037-77insATG)
2	g.96293173A>C	CA2751317166	SNRNP200	c.2037-78T>G (n.2037-78T>G)
2	g.96293173_96293176del	CA2751317165	SNRNP200	c.2037-81_2037-78del (n.2037-81_2037-78del)
2	g.96293174G>A	CA52399911	SNRNP200	c.2037-79C>T (n.2037-79C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96293174G>C	CA2751317168	SNRNP200	c.2037-79C>G (n.2037-79C>G)
2	g.96293174G=	CA1272543535	SNRNP200	c.2037-79C= (n.2037-79C=)
2	g.96293175A>G	CA2577035107	SNRNP200	c.2037-80T>C (n.2037-80T>C)	gnomAD v4
2	g.96293175A>T	CA2751317174	SNRNP200	c.2037-80T>A (n.2037-80T>A)
2	g.96293175dup	CA2751317171	SNRNP200	c.2037-80dup (n.2037-80dup)
2	g.96293176_96293178del	CA2751317172	SNRNP200	c.2037-82_2037-80del (n.2037-82_2037-80del)
2	g.96293175_96293179del	CA2751317173	SNRNP200	c.2037-84_2037-80del (n.2037-84_2037-80del)
2	g.96293175_96293176insACT	CA2751317176	SNRNP200	c.2037-81_2037-80insAGT (n.2037-81_2037-80insAGT)
2	g.96293175_96293176insCAG	CA2751317177	SNRNP200	c.2037-81_2037-80insCTG (n.2037-81_2037-80insCTG)
2	g.96293176del	CA2751317178	SNRNP200	c.2037-81del (n.2037-81del)
2	g.96293176G>A	CA2751317179	SNRNP200	c.2037-81C>T (n.2037-81C>T)
2	g.96293176_96293177insA	CA2751317181	SNRNP200	c.2037-82_2037-81insT (n.2037-82_2037-81insT)
2	g.96293177C>A	CA2751317182	SNRNP200	c.2037-82G>T (n.2037-82G>T)
2	g.96293177C>G	CA2751317183	SNRNP200	c.2037-82G>C (n.2037-82G>C)
2	g.96293179A=	CA1272543536	SNRNP200	c.2037-84T= (n.2037-84T=)
2	g.96293179A>G	CA534376460	SNRNP200	c.2037-84T>C (n.2037-84T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.96293179A>T	CA2751317185	SNRNP200	c.2037-84T>A (n.2037-84T>A)
2	g.96293180T>A	CA2660186205	SNRNP200	c.2037-85A>T (n.2037-85A>T)	gnomAD v4
2	g.96293181A>G	CA2660186206	SNRNP200	c.2037-86T>C (n.2037-86T>C)	gnomAD v4
2	g.96293182T>A	CA2751317188	SNRNP200	c.2037-87A>T (n.2037-87A>T)
2	g.96293182T>C	CA2660186207	SNRNP200	c.2037-87A>G (n.2037-87A>G)	gnomAD v4
2	g.96293182T>G	CA2660186208	SNRNP200	c.2037-87A>C (n.2037-87A>C)	gnomAD v4
2	g.96293182_96293183insAC	CA2751317189	SNRNP200	c.2037-88_2037-87insGT (n.2037-88_2037-87insGT)
2	g.96293183T>A	CA2660186209	SNRNP200	c.2037-88A>T (n.2037-88A>T)	gnomAD v4
2	g.96293183T>C	CA2751317190	SNRNP200	c.2037-88A>G (n.2037-88A>G)
2	g.96293184C>T	CA2660186210	SNRNP200	c.2037-89G>A (n.2037-89G>A)	gnomAD v4
2	g.96293184_96293185insAGTG	CA2751317192	SNRNP200	c.2037-90_2037-89insCACT (n.2037-90_2037-89insCACT)
2	g.96293185_96293191del	CA2751317193	SNRNP200	c.2037-96_2037-90del (n.2037-96_2037-90del)
2	g.96293187C>A	CA2751317194	SNRNP200	c.2037-92G>T (n.2037-92G>T)
2	g.96293188C>A	CA2751317196	SNRNP200	c.2037-93G>T (n.2037-93G>T)
2	g.96293188C>T	CA2577035108	SNRNP200	c.2037-93G>A (n.2037-93G>A)
2	g.96293188_96293194del	CA2751317197	SNRNP200	c.2037-99_2037-93del (n.2037-99_2037-93del)
2	g.96293189T>A	CA2751317201	SNRNP200	c.2037-94A>T (n.2037-94A>T)
2	g.96293189T>C	CA2751317203	SNRNP200	c.2037-94A>G (n.2037-94A>G)
2	g.96293191del	CA2699990168	SNRNP200	c.2037-94del (n.2037-94del)	dbSNP
2	g.96293189_96293190insACC	CA2751317207	SNRNP200	c.2037-95_2037-94insGGT (n.2037-95_2037-94insGGT)
2	g.96293190T>G	CA2751317210	SNRNP200	c.2037-95A>C (n.2037-95A>C)
2	g.96293190_96293194del	CA2751317208	SNRNP200	c.2037-99_2037-95del (n.2037-99_2037-95del)
2	g.96293191T>C	CA2513201077	SNRNP200	c.2037-96A>G (n.2037-96A>G)

Number of alleles fetched