Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
15	g.42360050del	CA2697554356	CAPN3	c.245del (p.Pro82ArgfsTer?) n.540+5597del	ClinVar
15	g.42360050C>A	CA391995016	CAPN3	c.245C>A (p.Pro82Gln) n.540+5597C>A
15	g.42360050C=	CA2172697429	CAPN3	c.245C= (p.Pro82=) n.540+5597C=
15	g.42360050C>G	CA391995014	CAPN3	c.245C>G (p.Pro82Arg) n.540+5597C>G	gnomAD v4
15	g.42360050C>T	CA10604293	CAPN3	c.245C>T (p.Pro82Leu) n.540+5597C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360051G>A	CA7510877	CAPN3	c.246G>A (p.Pro82=) n.540+5598G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360051G>C	CA489999218	CAPN3	c.246G>C (p.Pro82=) n.540+5598G>C	gnomAD v4
15	g.42360051G=	CA2172697430	CAPN3	c.246G= (p.Pro82=) n.540+5598G=
15	g.42360051G>T	CA489999219	CAPN3	c.246G>T (p.Pro82=) n.540+5598G>T
15	g.42360051_42360057dup	CA2628027753	CAPN3	c.246_252dup (p.Thr85GlyfsTer2) n.540+5598_540+5604dup	gnomAD v4
15	g.42360052G>A	CA391995020	CAPN3	c.247G>A (p.Asp83Asn) n.540+5599G>A
15	g.42360052G>C	CA391995022	CAPN3	c.247G>C (p.Asp83His) n.540+5599G>C
15	g.42360052G>T	CA391995025	CAPN3	c.247G>T (p.Asp83Tyr) n.540+5599G>T
15	g.42360054_42360058del	CA2575694980	CAPN3	c.249_253del (p.Glu84LeufsTer5) n.540+5601_540+5605del
15	g.42360053A>C	CA391995027	CAPN3	c.248A>C (p.Asp83Ala) n.540+5600A>C
15	g.42360053A>G	CA391995029	CAPN3	c.248A>G (p.Asp83Gly) n.540+5600A>G
15	g.42360053A>T	CA391995031	CAPN3	c.248A>T (p.Asp83Val) n.540+5600A>T
15	g.42360054T>A	CA391995033	CAPN3	c.249T>A (p.Asp83Glu) n.540+5601T>A
15	g.42360054T>C	CA489999223	CAPN3	c.249T>C (p.Asp83=) n.540+5601T>C
15	g.42360054T>G	CA391995035	CAPN3	c.249T>G (p.Asp83Glu) n.540+5601T>G	gnomAD v4
15	g.42360055G>A	CA391995038	CAPN3	c.250G>A (p.Glu84Lys) n.540+5602G>A	COSMIC COSMIC COSMIC
15	g.42360055G>C	CA391995040	CAPN3	c.250G>C (p.Glu84Gln) n.540+5602G>C
15	g.42360055G>T	CA391995043	CAPN3	c.250G>T (p.Glu84Ter) n.540+5602G>T
15	g.42360056A>C	CA391995050	CAPN3	c.251A>C (p.Glu84Ala) n.540+5603A>C
15	g.42360056A>G	CA391995048	CAPN3	c.251A>G (p.Glu84Gly) n.540+5603A>G
15	g.42360056A>T	CA391995046	CAPN3	c.251A>T (p.Glu84Val) n.540+5603A>T
15	g.42360057G>A	CA489999228	CAPN3	c.252G>A (p.Glu84=) n.540+5604G>A	gnomAD v4
15	g.42360057G>C	CA391995056	CAPN3	c.252G>C (p.Glu84Asp) n.540+5604G>C
15	g.42360057G>T	CA391995053	CAPN3	c.252G>T (p.Glu84Asp) n.540+5604G>T
15	g.42360058A>C	CA391995062	CAPN3	c.253A>C (p.Thr85Pro) n.540+5605A>C
15	g.42360058A>G	CA391995058	CAPN3	c.253A>G (p.Thr85Ala) n.540+5605A>G
15	g.42360058A>T	CA391995060	CAPN3	c.253A>T (p.Thr85Ser) n.540+5605A>T
15	g.42360059C>A	CA391995066	CAPN3	c.254C>A (p.Thr85Asn) n.540+5606C>A	gnomAD v4
15	g.42360059C>G	CA391995067	CAPN3	c.254C>G (p.Thr85Ser) n.540+5606C>G
15	g.42360059C>T	CA391995069	CAPN3	c.254C>T (p.Thr85Ile) n.540+5606C>T
15	g.42360059_42360063delinsCCTCT	CA2172697431	CAPN3	c.254_258delinsCCTCT (p.Thr85=) n.540+5606_540+5610delinsCCTCT
15	g.42360060C>A	CA489999232	CAPN3	c.255C>A (p.Thr85=) n.540+5607C>A
15	g.42360060C=	CA2172697432	CAPN3	c.255C= (p.Thr85=) n.540+5607C=
15	g.42360060C>G	CA7510880	CAPN3	c.255C>G (p.Thr85=) n.540+5607C>G	dbSNP ExAC gnomAD v4
15	g.42360060C>T	CA7510879	CAPN3	c.255C>T (p.Thr85=) n.540+5607C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360066_42360067dup	CA2628027762	CAPN3	c.261_262dup (p.Phe88SerfsTer?) n.540+5613_540+5614dup	gnomAD v4
15	g.42360066_42360067del	CA618001482	CAPN3	c.261_262del (p.Phe88LeufsTer2) n.540+5613_540+5614del	ClinVar dbSNP gnomAD v2 gnomAD v4
15	g.42360064_42360067del	CA7510878	CAPN3	c.259_262del (p.Leu87PhefsTer?) n.540+5611_540+5614del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15	g.42360061T>A	CA391995084	CAPN3	c.256T>A (p.Ser86Thr) n.540+5608T>A
15	g.42360061T>C	CA391995086	CAPN3	c.256T>C (p.Ser86Pro) n.540+5608T>C
15	g.42360061T>G	CA391995088	CAPN3	c.256T>G (p.Ser86Ala) n.540+5608T>G
15	g.42360061_42360062delinsTC	CA2172697433	CAPN3	c.256_257delinsTC (p.Ser86=) n.540+5608_540+5609delinsTC
15	g.42360062del	CA618001483	CAPN3	c.257del (p.Ser86PhefsTer?) n.540+5609del	ClinVar dbSNP gnomAD v2 gnomAD v4
15	g.42360062C>A	CA391995090	CAPN3	c.257C>A (p.Ser86Tyr) n.540+5609C>A
15	g.42360062C=	CA2172697434	CAPN3	c.257C= (p.Ser86=) n.540+5609C=
15	g.42360062C>G	CA391995092	CAPN3	c.257C>G (p.Ser86Cys) n.540+5609C>G
15	g.42360062C>T	CA341473	CAPN3	c.257C>T (p.Ser86Phe) n.540+5609C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
15	g.42360063T>A	CA489999239	CAPN3	c.258T>A (p.Ser86=) n.540+5610T>A
15	g.42360063T>C	CA489999241	CAPN3	c.258T>C (p.Ser86=) n.540+5610T>C	ClinVar dbSNP
15	g.42360063T>G	CA489999244	CAPN3	c.258T>G (p.Ser86=) n.540+5610T>G
15	g.42360063dup	CA7510881	CAPN3	c.258dup (p.Leu87SerfsTer4) n.540+5610dup	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360064C>A	CA391995100	CAPN3	c.259C>A (p.Leu87Ile) n.540+5611C>A
15	g.42360064C=	CA2172697435	CAPN3	c.259C= (p.Leu87=) n.540+5611C=
15	g.42360064C>G	CA7510882	CAPN3	c.259C>G (p.Leu87Val) n.540+5611C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360064C>T	CA391995099	CAPN3	c.259C>T (p.Leu87Phe) n.540+5611C>T	dbSNP
15	g.42360064_42360070delinsCTCTTTT	CA2172697436	CAPN3	c.259_265delinsCTCTTTT (p.Leu87=) n.540+5611_540+5617delinsCTCTTTT
15	g.42360065T>A	CA391995103	CAPN3	c.260T>A (p.Leu87His) n.540+5612T>A
15	g.42360065T>C	CA391995105	CAPN3	c.260T>C (p.Leu87Pro) n.540+5612T>C	gnomAD v4
15	g.42360065T>G	CA391995107	CAPN3	c.260T>G (p.Leu87Arg) n.540+5612T>G
15	g.42360065dup	CA2695219980	CAPN3	c.260dup (p.Phe88LeufsTer3) n.540+5612dup
15	g.42360065_42360070del	CA618001484	CAPN3	c.260_265del (p.Leu87_Tyr89delinsHis) n.540+5612_540+5617del	dbSNP gnomAD v2 gnomAD v4
15	g.42360065_42360070delinsGA	CA2695219981	CAPN3	c.260_265delinsGA (p.Leu87ArgfsTer?) n.540+5612_540+5617delinsGA
15	g.42360066C>A	CA489999250	CAPN3	c.261C>A (p.Leu87=) n.540+5613C>A
15	g.42360066C>G	CA489999251	CAPN3	c.261C>G (p.Leu87=) n.540+5613C>G
15	g.42360066C>T	CA489999252	CAPN3	c.261C>T (p.Leu87=) n.540+5613C>T
15	g.42360067T>A	CA391995110	CAPN3	c.262T>A (p.Phe88Ile) n.540+5614T>A
15	g.42360067T>C	CA391995112	CAPN3	c.262T>C (p.Phe88Leu) n.540+5614T>C
15	g.42360067T>G	CA391995114	CAPN3	c.262T>G (p.Phe88Val) n.540+5614T>G
15	g.42360069_42360070del	CA2573150743	CAPN3	c.264_265del (p.Phe88LeufsTer2) n.540+5616_540+5617del	ClinVar dbSNP
15	g.42360068T>A	CA391995116	CAPN3	c.263T>A (p.Phe88Tyr) n.540+5615T>A
15	g.42360068T>C	CA7510883	CAPN3	c.263T>C (p.Phe88Ser) n.540+5615T>C	dbSNP ExAC gnomAD v2 gnomAD v4
15	g.42360068T>G	CA391995119	CAPN3	c.263T>G (p.Phe88Cys) n.540+5615T>G
15	g.42360068T=	CA2172697437	CAPN3	c.263T= (p.Phe88=) n.540+5615T=
15	g.42360069T>A	CA391995121	CAPN3	c.264T>A (p.Phe88Leu) n.540+5616T>A
15	g.42360069T>C	CA489999265	CAPN3	c.264T>C (p.Phe88=) n.540+5616T>C
15	g.42360069T>G	CA238547	CAPN3	c.264T>G (p.Phe88Leu) n.540+5616T>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360069T=	CA2172697438	CAPN3	c.264T= (p.Phe88=) n.540+5616T=
15	g.42360070T>A	CA391995123	CAPN3	c.265T>A (p.Tyr89Asn) n.540+5617T>A
15	g.42360070T>C	CA391995125	CAPN3	c.265T>C (p.Tyr89His) n.540+5617T>C	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
15	g.42360070T>G	CA391995127	CAPN3	c.265T>G (p.Tyr89Asp) n.540+5617T>G
15	g.42360070T=	CA2172697439	CAPN3	c.265T= (p.Tyr89=) n.540+5617T=
15	g.42360070_42360071insGA	CA618001485	CAPN3	c.265_266insGA (p.Tyr89Ter) n.540+5617_540+5618insGA	dbSNP gnomAD v2
15	g.42360071A=	CA2172697440	CAPN3	c.266A= (p.Tyr89=) n.540+5618A=
15	g.42360071A>C	CA391995129	CAPN3	c.266A>C (p.Tyr89Ser) n.540+5618A>C
15	g.42360071A>G	CA391995131	CAPN3	c.266A>G (p.Tyr89Cys) n.540+5618A>G	ClinVar dbSNP gnomAD v4
15	g.42360071A>T	CA391995133	CAPN3	c.266A>T (p.Tyr89Phe) n.540+5618A>T
15	g.42360072T>A	CA391995135	CAPN3	c.267T>A (p.Tyr89Ter) n.540+5619T>A
15	g.42360072T>C	CA7510884	CAPN3	c.267T>C (p.Tyr89=) n.540+5619T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360072T>G	CA391995139	CAPN3	c.267T>G (p.Tyr89Ter) n.540+5619T>G
15	g.42360072T=	CA2172697441	CAPN3	c.267T= (p.Tyr89=) n.540+5619T=
15	g.42360073A>C	CA391995141	CAPN3	c.268A>C (p.Ser90Arg) n.540+5620A>C
15	g.42360073A>G	CA391995143	CAPN3	c.268A>G (p.Ser90Gly) n.540+5620A>G
15	g.42360073A>T	CA391995145	CAPN3	c.268A>T (p.Ser90Cys) n.540+5620A>T
15	g.42360074G>A	CA391995149	CAPN3	c.269G>A (p.Ser90Asn) n.540+5621G>A
15	g.42360074G>C	CA391995152	CAPN3	c.269G>C (p.Ser90Thr) n.540+5621G>C
15	g.42360074G>T	CA391995148	CAPN3	c.269G>T (p.Ser90Ile) n.540+5621G>T
15	g.42360075C>A	CA391995154	CAPN3	c.270C>A (p.Ser90Arg) n.540+5622C>A
15	g.42360075C=	CA2172697442	CAPN3	c.270C= (p.Ser90=) n.540+5622C=
15	g.42360075C>G	CA391995156	CAPN3	c.270C>G (p.Ser90Arg) n.540+5622C>G
15	g.42360075C>T	CA7510885	CAPN3	c.270C>T (p.Ser90=) n.540+5622C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360076C>A	CA391995160	CAPN3	c.271C>A (p.Gln91Lys) n.540+5623C>A
15	g.42360076C>G	CA391995162	CAPN3	c.271C>G (p.Gln91Glu) n.540+5623C>G
15	g.42360076C>T	CA391995164	CAPN3	c.271C>T (p.Gln91Ter) n.540+5623C>T	gnomAD v4
15	g.42360077A=	CA2172697443	CAPN3	c.272A= (p.Gln91=) n.540+5624A=
15	g.42360077A>C	CA391995167	CAPN3	c.272A>C (p.Gln91Pro) n.540+5624A>C
15	g.42360077A>G	CA391995170	CAPN3	c.272A>G (p.Gln91Arg) n.540+5624A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360077A>T	CA391995168	CAPN3	c.272A>T (p.Gln91Leu) n.540+5624A>T
15	g.42360078G>A	CA489878140	CAPN3	c.273G>A (p.Gln91=) n.540+5625G>A
15	g.42360078G>C	CA391995173	CAPN3	c.273G>C (p.Gln91His) n.540+5625G>C
15	g.42360078G>T	CA391995174	CAPN3	c.273G>T (p.Gln91His) n.540+5625G>T
15	g.42360082_42360105del	CA2695219982	CAPN3	c.277_300del (p.Phe93_Lys100del) n.540+5629_540+5652del
15	g.42360079A>C	CA391995177	CAPN3	c.274A>C (p.Lys92Gln) n.540+5626A>C
15	g.42360079A>G	CA391995178	CAPN3	c.274A>G (p.Lys92Glu) n.540+5626A>G
15	g.42360079A>T	CA391995180	CAPN3	c.274A>T (p.Lys92Ter) n.540+5626A>T
15	g.42360080del	CA2695219983	CAPN3	c.275del (p.Lys92SerfsTer?) n.540+5627del
15	g.42360080A>C	CA391995185	CAPN3	c.275A>C (p.Lys92Thr) n.540+5627A>C
15	g.42360080A>G	CA391995187	CAPN3	c.275A>G (p.Lys92Arg) n.540+5627A>G
15	g.42360080A>T	CA391995183	CAPN3	c.275A>T (p.Lys92Met) n.540+5627A>T
15	g.42360081G>A	CA489878141	CAPN3	c.276G>A (p.Lys92=) n.540+5628G>A
15	g.42360081G>C	CA391995189	CAPN3	c.276G>C (p.Lys92Asn) n.540+5628G>C
15	g.42360081G>T	CA391995191	CAPN3	c.276G>T (p.Lys92Asn) n.540+5628G>T
15	g.42360082T>A	CA391995194	CAPN3	c.277T>A (p.Phe93Ile) n.540+5629T>A
15	g.42360082T>C	CA391995197	CAPN3	c.277T>C (p.Phe93Leu) n.540+5629T>C
15	g.42360082T>G	CA391995195	CAPN3	c.277T>G (p.Phe93Val) n.540+5629T>G
15	g.42360083T>A	CA391995199	CAPN3	c.278T>A (p.Phe93Tyr) n.540+5630T>A
15	g.42360083T>C	CA391995203	CAPN3	c.278T>C (p.Phe93Ser) n.540+5630T>C
15	g.42360083T>G	CA391995201	CAPN3	c.278T>G (p.Phe93Cys) n.540+5630T>G
15	g.42360084C>A	CA391995205	CAPN3	c.279C>A (p.Phe93Leu) n.540+5631C>A
15	g.42360084C=	CA2172697444	CAPN3	c.279C= (p.Phe93=) n.540+5631C=
15	g.42360084C>G	CA7510886	CAPN3	c.279C>G (p.Phe93Leu) n.540+5631C>G	dbSNP ExAC gnomAD v2 gnomAD v4
15	g.42360084C>T	CA489878143	CAPN3	c.279C>T (p.Phe93=) n.540+5631C>T	ClinVar dbSNP gnomAD v2
15	g.42360085C>A	CA269854086	CAPN3	c.280C>A (p.Pro94Thr) n.540+5632C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360085C=	CA2172697445	CAPN3	c.280C= (p.Pro94=) n.540+5632C=
15	g.42360085C>G	CA391995209	CAPN3	c.280C>G (p.Pro94Ala) n.540+5632C>G
15	g.42360085C>T	CA391995211	CAPN3	c.280C>T (p.Pro94Ser) n.540+5632C>T
15	g.42360086C>A	CA391995214	CAPN3	c.281C>A (p.Pro94His) n.540+5633C>A	COSMIC COSMIC COSMIC
15	g.42360086C=	CA2172697446	CAPN3	c.281C= (p.Pro94=) n.540+5633C=
15	g.42360086C>G	CA391995217	CAPN3	c.281C>G (p.Pro94Arg) n.540+5633C>G
15	g.42360086C>T	CA391995219	CAPN3	c.281C>T (p.Pro94Leu) n.540+5633C>T	ClinVar dbSNP COSMIC COSMIC COSMIC
15	g.42360087C>A	CA489878144	CAPN3	c.282C>A (p.Pro94=) n.540+5634C>A
15	g.42360087C>G	CA489878145	CAPN3	c.282C>G (p.Pro94=) n.540+5634C>G
15	g.42360087C>T	CA489878146	CAPN3	c.282C>T (p.Pro94=) n.540+5634C>T	ClinVar dbSNP
15	g.42360088A=	CA2172697447	CAPN3	c.283A= (p.Ile95=) n.540+5635A=
15	g.42360088A>C	CA391995222	CAPN3	c.283A>C (p.Ile95Leu) n.540+5635A>C
15	g.42360088A>G	CA391995224	CAPN3	c.283A>G (p.Ile95Val) n.540+5635A>G	dbSNP
15	g.42360088A>T	CA391995227	CAPN3	c.283A>T (p.Ile95Phe) n.540+5635A>T
15	g.42360089T>A	CA391995233	CAPN3	c.284T>A (p.Ile95Asn) n.540+5636T>A
15	g.42360089T>C	CA391995229	CAPN3	c.284T>C (p.Ile95Thr) n.540+5636T>C
15	g.42360089T>G	CA391995231	CAPN3	c.284T>G (p.Ile95Ser) n.540+5636T>G
15	g.42360090C>A	CA489878147	CAPN3	c.285C>A (p.Ile95=) n.540+5637C>A	gnomAD v4
15	g.42360090C=	CA2172697448	CAPN3	c.285C= (p.Ile95=) n.540+5637C=
15	g.42360090C>G	CA391995235	CAPN3	c.285C>G (p.Ile95Met) n.540+5637C>G
15	g.42360090C>T	CA7510887	CAPN3	c.285C>T (p.Ile95=) n.540+5637C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15	g.42360091del	CA2695219984	CAPN3	c.286del (p.Gln96SerfsTer?) n.540+5638del
15	g.42360091C>A	CA391995238	CAPN3	c.286C>A (p.Gln96Lys) n.540+5638C>A
15	g.42360091C=	CA2172697449	CAPN3	c.286C= (p.Gln96=) n.540+5638C=
15	g.42360091C>G	CA391995240	CAPN3	c.286C>G (p.Gln96Glu) n.540+5638C>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360091C>T	CA391995242	CAPN3	c.286C>T (p.Gln96Ter) n.540+5638C>T	ClinVar dbSNP
15	g.42360092A>C	CA391995244	CAPN3	c.287A>C (p.Gln96Pro) n.540+5639A>C
15	g.42360092A>G	CA391995246	CAPN3	c.287A>G (p.Gln96Arg) n.540+5639A>G	ClinVar dbSNP
15	g.42360092A>T	CA391995248	CAPN3	c.287A>T (p.Gln96Leu) n.540+5639A>T
15	g.42360093G>A	CA489878148	CAPN3	c.288G>A (p.Gln96=) n.540+5640G>A	ClinVar dbSNP
15	g.42360093G>C	CA391995251	CAPN3	c.288G>C (p.Gln96His) n.540+5640G>C
15	g.42360093G=	CA2172697450	CAPN3	c.288G= (p.Gln96=) n.540+5640G=
15	g.42360093G>T	CA7510888	CAPN3	c.288G>T (p.Gln96His) n.540+5640G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360094T>A	CA391995260	CAPN3	c.289T>A (p.Phe97Ile) n.540+5641T>A
15	g.42360094T>C	CA391995258	CAPN3	c.289T>C (p.Phe97Leu) n.540+5641T>C
15	g.42360094T>G	CA391995256	CAPN3	c.289T>G (p.Phe97Val) n.540+5641T>G
15	g.42360095dup	CA915946533	CAPN3	c.290dup (p.Val98ArgfsTer17) n.540+5642dup	ClinVar dbSNP
15	g.42360095T>A	CA391995263	CAPN3	c.290T>A (p.Phe97Tyr) n.540+5642T>A
15	g.42360095T>C	CA391995265	CAPN3	c.290T>C (p.Phe97Ser) n.540+5642T>C
15	g.42360095T>G	CA391995267	CAPN3	c.290T>G (p.Phe97Cys) n.540+5642T>G
15	g.42360096C>A	CA391995269	CAPN3	c.291C>A (p.Phe97Leu) n.540+5643C>A	ClinVar dbSNP gnomAD v4
15	g.42360096C=	CA2172697451	CAPN3	c.291C= (p.Phe97=) n.540+5643C=
15	g.42360096C>G	CA391995272	CAPN3	c.291C>G (p.Phe97Leu) n.540+5643C>G
15	g.42360096C>T	CA7510889	CAPN3	c.291C>T (p.Phe97=) n.540+5643C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15	g.42360097G>A	CA7510890	CAPN3	c.292G>A (p.Val98Ile) n.540+5644G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15	g.42360097G>C	CA391995279	CAPN3	c.292G>C (p.Val98Leu) n.540+5644G>C	gnomAD v4
15	g.42360097G=	CA2172697452	CAPN3	c.292G= (p.Val98=) n.540+5644G=
15	g.42360097G>T	CA391995281	CAPN3	c.292G>T (p.Val98Phe) n.540+5644G>T	dbSNP gnomAD v4
15	g.42360098T>A	CA391995284	CAPN3	c.293T>A (p.Val98Asp) n.540+5645T>A
15	g.42360098T>C	CA391995286	CAPN3	c.293T>C (p.Val98Ala) n.540+5645T>C
15	g.42360098T>G	CA391995288	CAPN3	c.293T>G (p.Val98Gly) n.540+5645T>G
15	g.42360099C>A	CA7510892	CAPN3	c.294C>A (p.Val98=) n.540+5646C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15	g.42360099C=	CA2172697453	CAPN3	c.294C= (p.Val98=) n.540+5646C=
15	g.42360099C>G	CA7510891	CAPN3	c.294C>G (p.Val98=) n.540+5646C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360099C>T	CA489878149	CAPN3	c.294C>T (p.Val98=) n.540+5646C>T
15	g.42360100T>A	CA391995290	CAPN3	c.295T>A (p.Trp99Arg) n.540+5647T>A
15	g.42360100T>C	CA391995291	CAPN3	c.295T>C (p.Trp99Arg) n.540+5647T>C
15	g.42360100T>G	CA391995292	CAPN3	c.295T>G (p.Trp99Gly) n.540+5647T>G
15	g.42360101G>A	CA391995293	CAPN3	c.296G>A (p.Trp99Ter) n.540+5648G>A
15	g.42360101G>C	CA391995294	CAPN3	c.296G>C (p.Trp99Ser) n.540+5648G>C
15	g.42360101G>T	CA391995295	CAPN3	c.296G>T (p.Trp99Leu) n.540+5648G>T
15	g.42360102G>A	CA391995296	CAPN3	c.297G>A (p.Trp99Ter) n.540+5649G>A
15	g.42360102G>C	CA391995297	CAPN3	c.297G>C (p.Trp99Cys) n.540+5649G>C
15	g.42360102G>T	CA391995298	CAPN3	c.297G>T (p.Trp99Cys) n.540+5649G>T
15	g.42360103A>C	CA391995299	CAPN3	c.298A>C (p.Lys100Gln) n.540+5650A>C
15	g.42360103A>G	CA391995301	CAPN3	c.298A>G (p.Lys100Glu) n.540+5650A>G
15	g.42360103A>T	CA391995304	CAPN3	c.298A>T (p.Lys100Ter) n.540+5650A>T
15	g.42360104A=	CA2172697454	CAPN3	c.299A= (p.Lys100=) n.540+5651A=
15	g.42360104A>C	CA391995309	CAPN3	c.299A>C (p.Lys100Thr) n.540+5651A>C
15	g.42360104A>G	CA391995312	CAPN3	c.299A>G (p.Lys100Arg) n.540+5651A>G	dbSNP gnomAD v2 gnomAD v4
15	g.42360104A>T	CA391995307	CAPN3	c.299A>T (p.Lys100Met) n.540+5651A>T
15	g.42360105G>A	CA489878150	CAPN3	c.300G>A (p.Lys100=) n.540+5652G>A
15	g.42360105G>C	CA391995317	CAPN3	c.300G>C (p.Lys100Asn) n.540+5652G>C
15	g.42360105G>T	CA391995315	CAPN3	c.300G>T (p.Lys100Asn) n.540+5652G>T
15	g.42360106A>C	CA489878151	CAPN3	c.301A>C (p.Arg101=) n.540+5653A>C
15	g.42360106A>G	CA391995320	CAPN3	c.301A>G (p.Arg101Gly) n.540+5653A>G
15	g.42360106A>T	CA391995322	CAPN3	c.301A>T (p.Arg101Ter) n.540+5653A>T
15	g.42360107G>A	CA391995325	CAPN3	c.302G>A (p.Arg101Lys) n.540+5654G>A
15	g.42360107G>C	CA391995327	CAPN3	c.302G>C (p.Arg101Thr) n.540+5654G>C
15	g.42360107G>T	CA391995330	CAPN3	c.302G>T (p.Arg101Ile) n.540+5654G>T
15	g.42360108A>C	CA391995335	CAPN3	c.303A>C (p.Arg101Ser) n.540+5655A>C
15	g.42360108A>G	CA489878152	CAPN3	c.303A>G (p.Arg101=) n.540+5655A>G
15	g.42360108A>T	CA391995332	CAPN3	c.303A>T (p.Arg101Ser) n.540+5655A>T
15	g.42360109C>A	CA391995338	CAPN3	c.304C>A (p.Pro102Thr) n.540+5656C>A	gnomAD v4
15	g.42360109C>G	CA391995339	CAPN3	c.304C>G (p.Pro102Ala) n.540+5656C>G	gnomAD v4
15	g.42360109C>T	CA391995342	CAPN3	c.304C>T (p.Pro102Ser) n.540+5656C>T	ClinVar dbSNP
15	g.42360110C>A	CA391995345	CAPN3	c.305C>A (p.Pro102His) n.540+5657C>A
15	g.42360110C=	CA2172697455	CAPN3	c.305C= (p.Pro102=) n.540+5657C=
15	g.42360110C>G	CA391995347	CAPN3	c.305C>G (p.Pro102Arg) n.540+5657C>G
15	g.42360110C>T	CA10604073	CAPN3	c.305C>T (p.Pro102Leu) n.540+5657C>T	ClinVar dbSNP
15	g.42360111T>A	CA489878153	CAPN3	c.306T>A (p.Pro102=) n.540+5658T>A
15	g.42360111T>C	CA489878154	CAPN3	c.306T>C (p.Pro102=) n.540+5658T>C
15	g.42360111T>G	CA489878155	CAPN3	c.306T>G (p.Pro102=) n.540+5658T>G
15	g.42360112C>A	CA391995351	CAPN3	c.307C>A (p.Pro103Thr) n.540+5659C>A
15	g.42360112C>G	CA391995356	CAPN3	c.307C>G (p.Pro103Ala) n.540+5659C>G
15	g.42360112C>T	CA391995353	CAPN3	c.307C>T (p.Pro103Ser) n.540+5659C>T
15	g.42360113C>A	CA391995359	CAPN3	c.308C>A (p.Pro103Gln) n.540+5660C>A
15	g.42360113C=	CA2172697456	CAPN3	c.308C= (p.Pro103=) n.540+5660C=
15	g.42360113C>G	CA391995361	CAPN3	c.308C>G (p.Pro103Arg) n.540+5660C>G
15	g.42360113C>T	CA7510893	CAPN3	c.308C>T (p.Pro103Leu) n.540+5660C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360114G>A	CA7510894	CAPN3	c.309G>A (p.Pro103=) n.540+5661G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360114G>C	CA489878156	CAPN3	c.309G>C (p.Pro103=) n.540+5661G>C
15	g.42360114G=	CA2172697457	CAPN3	c.309G= (p.Pro103=) n.540+5661G=
15	g.42360114G>T	CA489878157	CAPN3	c.309G>T (p.Pro103=) n.540+5661G>T	gnomAD v4
15	g.42360115G>A	CA391995369	CAPN3	c.309+1G>A (n.309+1G>A) n.540+5662G>A	ClinVar
15	g.42360115G>C	CA391995371	CAPN3	c.309+1G>C (n.309+1G>C) n.540+5662G>C
15	g.42360115G>T	CA391995373	CAPN3	c.309+1G>T (n.309+1G>T) n.540+5662G>T
15	g.42360116T>A	CA391995376	CAPN3	c.309+2T>A (n.309+2T>A) n.540+5663T>A
15	g.42360116T>C	CA391995378	CAPN3	c.309+2T>C (n.309+2T>C) n.540+5663T>C
15	g.42360116T>G	CA391995381	CAPN3	c.309+2T>G (n.309+2T>G) n.540+5663T>G
15	g.42360118A=	CA2172697458	CAPN3	c.309+4A= (n.309+4A=) n.540+5665A=
15	g.42360118A>C	CA891844447	CAPN3	c.309+4A>C (n.309+4A>C) n.540+5665A>C	ClinVar dbSNP
15	g.42360119G>A	CA2739290626	CAPN3	c.309+5G>A (n.309+5G>A) n.540+5666G>A
15	g.42360120T>C	CA2628027835	CAPN3	c.309+6T>C (n.309+6T>C) n.540+5667T>C	gnomAD v4
15	g.42360121A=	CA2172697459	CAPN3	c.309+7A= (n.309+7A=) n.540+5668A=
15	g.42360121A>G	CA2172697460	CAPN3	c.309+7A>G (n.309+7A>G) n.540+5668A>G	ClinVar dbSNP
15	g.42360122G>A	CA2580089465	CAPN3	c.309+8G>A (n.309+8G>A) n.540+5669G>A	ClinVar
15	g.42360122G>C	CA2628027836	CAPN3	c.309+8G>C (n.309+8G>C) n.540+5669G>C	gnomAD v4
15	g.42360123C=	CA2172697461	CAPN3	c.309+9C= (n.309+9C=) n.540+5670C=
15	g.42360123C>T	CA712875269	CAPN3	c.309+9C>T (n.309+9C>T) n.540+5670C>T	dbSNP gnomAD v4
15	g.42360126C=	CA2172697462	CAPN3	c.309+12C= (n.309+12C=) n.540+5673C=
15	g.42360126C>T	CA7510895	CAPN3	c.309+12C>T (n.309+12C>T) n.540+5673C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360129G>A	CA7510896	CAPN3	c.309+15G>A (n.309+15G>A) n.540+5676G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15	g.42360129G=	CA2172697463	CAPN3	c.309+15G= (n.309+15G=) n.540+5676G=
15	g.42360131T>C	CA269854167	CAPN3	c.309+17T>C (n.309+17T>C) n.540+5678T>C	dbSNP
15	g.42360131T=	CA2172697464	CAPN3	c.309+17T= (n.309+17T=) n.540+5678T=
15	g.42360134C>A	CA2730572423	CAPN3	c.309+20C>A (n.309+20C>A) n.540+5681C>A	dbSNP
15	g.42360134C=	CA2172697465	CAPN3	c.309+20C= (n.309+20C=) n.540+5681C=
15	g.42360134C>G	CA7510897	CAPN3	c.309+20C>G (n.309+20C>G) n.540+5681C>G	dbSNP ExAC gnomAD v3 gnomAD v4
15	g.42360135T>C	CA7510898	CAPN3	c.309+21T>C (n.309+21T>C) n.540+5682T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360135T=	CA2172697466	CAPN3	c.309+21T= (n.309+21T=) n.540+5682T=
15	g.42360136G>A	CA2803912945	CAPN3	c.309+22G>A (n.309+22G>A) n.540+5683G>A
15	g.42360137G>T	CA2628027842	CAPN3	c.309+23G>T (n.309+23G>T) n.540+5684G>T	gnomAD v4
15	g.42360139T>C	CA2591988135	CAPN3	c.309+25T>C (n.309+25T>C) n.540+5686T>C	dbSNP gnomAD v3 gnomAD v4
15	g.42360140G>A	CA2172697468	CAPN3	c.309+26G>A (n.309+26G>A) n.540+5687G>A	dbSNP
15	g.42360140G=	CA2172697467	CAPN3	c.309+26G= (n.309+26G=) n.540+5687G=
15	g.42360141G>A	CA2575695009	CAPN3	c.309+27G>A (n.309+27G>A) n.540+5688G>A
15	g.42360141G>T	CA2628027843	CAPN3	c.309+27G>T (n.309+27G>T) n.540+5688G>T	gnomAD v4
15	g.42360142_42360143delinsGT	CA2172697469	CAPN3	c.309+28_309+29delinsGT (n.309+28_309+29delinsGT) n.540+5689_540+5690delinsGT
15	g.42360143T>A	CA617606529	CAPN3	c.309+29T>A (n.309+29T>A) n.540+5690T>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360143T>C	CA2628027846	CAPN3	c.309+29T>C (n.309+29T>C) n.540+5690T>C	gnomAD v4
15	g.42360143T>G	CA2172697472	CAPN3	c.309+29T>G (n.309+29T>G) n.540+5690T>G	dbSNP gnomAD v4
15	g.42360143T=	CA2172697471	CAPN3	c.309+29T= (n.309+29T=) n.540+5690T=
15	g.42360146dup	CA617606530	CAPN3	c.309+32dup (n.309+32dup) n.540+5693dup	dbSNP gnomAD v2 gnomAD v4
15	g.42360146del	CA7510899	CAPN3	c.309+32del (n.309+32del) n.540+5693del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360143_42360147delinsTTTTC	CA2172697470	CAPN3	c.309+29_309+33delinsTTTTC (n.309+29_309+33delinsTTTTC) n.540+5690_540+5694delinsTTTTC
15	g.42360144T>A	CA2628027847	CAPN3	c.309+30T>A (n.309+30T>A) n.540+5691T>A	gnomAD v4
15	g.42360144T>G	CA7510901	CAPN3	c.309+30T>G (n.309+30T>G) n.540+5691T>G	dbSNP ExAC gnomAD v2 gnomAD v4
15	g.42360144T=	CA2172697473	CAPN3	c.309+30T= (n.309+30T=) n.540+5691T=
15	g.42360144_42360147del	CA617606531	CAPN3	c.309+30_309+33del (n.309+30_309+33del) n.540+5691_540+5694del	dbSNP gnomAD v2 gnomAD v4
15	g.42360144_42360145insG	CA7510900	CAPN3	c.309+30_309+31insG (n.309+30_309+31insG) n.540+5691_540+5692insG	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360145T>C	CA269854194	CAPN3	c.309+31T>C (n.309+31T>C) n.540+5692T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360145T>G	CA7510902	CAPN3	c.309+31T>G (n.309+31T>G) n.540+5692T>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360145T=	CA2172697474	CAPN3	c.309+31T= (n.309+31T=) n.540+5692T=
15	g.42360146T>A	CA2628027852	CAPN3	c.309+32T>A (n.309+32T>A) n.540+5693T>A	gnomAD v4
15	g.42360146T>C	CA7510903	CAPN3	c.309+32T>C (n.309+32T>C) n.540+5693T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.42360146T=	CA2172697475	CAPN3	c.309+32T= (n.309+32T=) n.540+5693T=
15	g.42360147C>A	CA712875293	CAPN3	c.309+33C>A (n.309+33C>A) n.540+5694C>A	dbSNP gnomAD v3 gnomAD v4
15	g.42360147C=	CA2172697476	CAPN3	c.309+33C= (n.309+33C=) n.540+5694C=
15	g.42360147C>T	CA7510904	CAPN3	c.309+33C>T (n.309+33C>T) n.540+5694C>T	dbSNP ExAC gnomAD v2 gnomAD v4
15	g.42360152dup	CA269854208	CAPN3	c.309+38dup (n.309+38dup) n.540+5699dup	dbSNP gnomAD v4
15	g.42360151_42360152dup	CA2628027855	CAPN3	c.309+37_309+38dup (n.309+37_309+38dup) n.540+5698_540+5699dup	gnomAD v4
15	g.42360152del	CA2575695018	CAPN3	c.309+38del (n.309+38del) n.540+5699del	gnomAD v4
15	g.42360149C=	CA2172697477	CAPN3	c.309+35C= (n.309+35C=) n.540+5696C=
15	g.42360149C>T	CA2172697478	CAPN3	c.309+35C>T (n.309+35C>T) n.540+5696C>T	dbSNP
15	g.42360150C>A	CA2628027858	CAPN3	c.309+36C>A (n.309+36C>A) n.540+5697C>A	gnomAD v4
15	g.42360150C=	CA2172697479	CAPN3	c.309+36C= (n.309+36C=) n.540+5697C=
15	g.42360150C>T	CA7510905	CAPN3	c.309+36C>T (n.309+36C>T) n.540+5697C>T	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched