| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.42360013_42360014del | CA912980491 | CAPN3 | c.208_209del (p.Glu70LysfsTer9) n.540+5560_540+5561del | |
| 15 | g.42360013G>A | CA391994833 | CAPN3 | c.208G>A (p.Glu70Lys) n.540+5560G>A | dbSNP gnomAD v4 |
| 15 | g.42360013G>C | CA391994838 | CAPN3 | c.208G>C (p.Glu70Gln) n.540+5560G>C | |
| 15 | g.42360013G= | CA2172697410 | CAPN3 | c.208G= (p.Glu70=) n.540+5560G= | |
| 15 | g.42360013G>T | CA391994835 | CAPN3 | c.208G>T (p.Glu70Ter) n.540+5560G>T | |
| 15 | g.42360013_42360014delinsGA | CA2172697409 | CAPN3 | c.208_209delinsGA (p.Glu70=) n.540+5560_540+5561delinsGA | |
| 15 | g.42360014A= | CA2172697411 | CAPN3 | c.209A= (p.Glu70=) n.540+5561A= | |
| 15 | g.42360014A>C | CA391994841 | CAPN3 | c.209A>C (p.Glu70Ala) n.540+5561A>C | |
| 15 | g.42360014A>G | CA391994843 | CAPN3 | c.209A>G (p.Glu70Gly) n.540+5561A>G | dbSNP gnomAD v4 |
| 15 | g.42360014A>T | CA391994845 | CAPN3 | c.209A>T (p.Glu70Val) n.540+5561A>T | |
| 15 | g.42360017del | CA658823859 | CAPN3 | c.212del (p.Lys71ArgfsTer?) n.540+5564del | ClinVar dbSNP |
| 15 | g.42360015A>C | CA391994848 | CAPN3 | c.210A>C (p.Glu70Asp) n.540+5562A>C | |
| 15 | g.42360015A>G | CA489999131 | CAPN3 | c.210A>G (p.Glu70=) n.540+5562A>G | ClinVar |
| 15 | g.42360015A>T | CA391994850 | CAPN3 | c.210A>T (p.Glu70Asp) n.540+5562A>T | |
| 15 | g.42360016A= | CA2172697412 | CAPN3 | c.211A= (p.Lys71=) n.540+5563A= | |
| 15 | g.42360016A>C | CA391994852 | CAPN3 | c.211A>C (p.Lys71Gln) n.540+5563A>C | |
| 15 | g.42360016A>G | CA391994854 | CAPN3 | c.211A>G (p.Lys71Glu) n.540+5563A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.42360016A>T | CA391994856 | CAPN3 | c.211A>T (p.Lys71Ter) n.540+5563A>T | |
| 15 | g.42360017A>C | CA391994858 | CAPN3 | c.212A>C (p.Lys71Thr) n.540+5564A>C | |
| 15 | g.42360017A>G | CA391994860 | CAPN3 | c.212A>G (p.Lys71Arg) n.540+5564A>G | |
| 15 | g.42360017A>T | CA391994862 | CAPN3 | c.212A>T (p.Lys71Met) n.540+5564A>T | |
| 15 | g.42360017_42360019delinsGG | CA2573053999 | CAPN3 | c.212_214delinsGG (p.Lys71ArgfsTer?) n.540+5564_540+5566delinsGG | ClinVar dbSNP |
| 15 | g.42360018G>A | CA489999137 | CAPN3 | c.213G>A (p.Lys71=) n.540+5565G>A | |
| 15 | g.42360018G>C | CA7510872 | CAPN3 | c.213G>C (p.Lys71Asn) n.540+5565G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42360018G= | CA2172697413 | CAPN3 | c.213G= (p.Lys71=) n.540+5565G= | |
| 15 | g.42360018G>T | CA391994865 | CAPN3 | c.213G>T (p.Lys71Asn) n.540+5565G>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42360019A= | CA2172697414 | CAPN3 | c.214A= (p.Lys72=) n.540+5566A= | |
| 15 | g.42360019A>C | CA391994868 | CAPN3 | c.214A>C (p.Lys72Gln) n.540+5566A>C | gnomAD v4 |
| 15 | g.42360019A>G | CA269853950 | CAPN3 | c.214A>G (p.Lys72Glu) n.540+5566A>G | dbSNP gnomAD v4 |
| 15 | g.42360019A>T | CA391994872 | CAPN3 | c.214A>T (p.Lys72Ter) n.540+5566A>T | |
| 15 | g.42360021del | CA2695219977 | CAPN3 | c.216del (p.Val73PhefsTer?) n.540+5568del | |
| 15 | g.42360020A>C | CA391994874 | CAPN3 | c.215A>C (p.Lys72Thr) n.540+5567A>C | |
| 15 | g.42360020A>G | CA391994876 | CAPN3 | c.215A>G (p.Lys72Arg) n.540+5567A>G | |
| 15 | g.42360020A>T | CA391994877 | CAPN3 | c.215A>T (p.Lys72Ile) n.540+5567A>T | |
| 15 | g.42360021_42360022insATAA | CA2546611267 | CAPN3 | c.216_217insATAA (p.Val73IlefsTer8) n.540+5568_540+5569insATAA | |
| 15 | g.42360021A>C | CA391994882 | CAPN3 | c.216A>C (p.Lys72Asn) n.540+5568A>C | |
| 15 | g.42360021A>G | CA489999143 | CAPN3 | c.216A>G (p.Lys72=) n.540+5568A>G | |
| 15 | g.42360021A>T | CA391994880 | CAPN3 | c.216A>T (p.Lys72Asn) n.540+5568A>T | |
| 15 | g.42360022G>A | CA391994884 | CAPN3 | c.217G>A (p.Val73Ile) n.540+5569G>A | |
| 15 | g.42360022G>C | CA391994886 | CAPN3 | c.217G>C (p.Val73Leu) n.540+5569G>C | |
| 15 | g.42360022G= | CA2172697415 | CAPN3 | c.217G= (p.Val73=) n.540+5569G= | |
| 15 | g.42360022G>T | CA7510873 | CAPN3 | c.217G>T (p.Val73Phe) n.540+5569G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42360023T>A | CA391994891 | CAPN3 | c.218T>A (p.Val73Asp) n.540+5570T>A | COSMIC COSMIC |
| 15 | g.42360023T>C | CA391994893 | CAPN3 | c.218T>C (p.Val73Ala) n.540+5570T>C | |
| 15 | g.42360023T>G | CA391994895 | CAPN3 | c.218T>G (p.Val73Gly) n.540+5570T>G | |
| 15 | g.42360024del | CA2499222909 | CAPN3 | c.219del (p.Leu74PhefsTer?) n.540+5571del | ClinVar dbSNP |
| 15 | g.42360024T>A | CA489999148 | CAPN3 | c.219T>A (p.Val73=) n.540+5571T>A | |
| 15 | g.42360024T>C | CA489999152 | CAPN3 | c.219T>C (p.Val73=) n.540+5571T>C | |
| 15 | g.42360024T>G | CA489999155 | CAPN3 | c.219T>G (p.Val73=) n.540+5571T>G | |
| 15 | g.42360025C>A | CA391994899 | CAPN3 | c.220C>A (p.Leu74Ile) n.540+5572C>A | gnomAD v4 COSMIC COSMIC |
| 15 | g.42360025C= | CA2172697416 | CAPN3 | c.220C= (p.Leu74=) n.540+5572C= | |
| 15 | g.42360025C>G | CA391994903 | CAPN3 | c.220C>G (p.Leu74Val) n.540+5572C>G | |
| 15 | g.42360025C>T | CA391994901 | CAPN3 | c.220C>T (p.Leu74Phe) n.540+5572C>T | |
| 15 | g.42360025dup | CA2695219978 | CAPN3 | c.220dup (p.Leu74ProfsTer6) n.540+5572dup | |
| 15 | g.42360026T>A | CA391994908 | CAPN3 | c.221T>A (p.Leu74His) n.540+5573T>A | |
| 15 | g.42360026T>C | CA391994910 | CAPN3 | c.221T>C (p.Leu74Pro) n.540+5573T>C | |
| 15 | g.42360026T>G | CA391994912 | CAPN3 | c.221T>G (p.Leu74Arg) n.540+5573T>G | |
| 15 | g.42360028dup | CA220346 | CAPN3 | c.223dup (p.Tyr75LeufsTer5) n.540+5575dup | ClinVar dbSNP gnomAD v4 |
| 15 | g.42360027T>A | CA489999158 | CAPN3 | c.222T>A (p.Leu74=) n.540+5574T>A | |
| 15 | g.42360027T>C | CA489999159 | CAPN3 | c.222T>C (p.Leu74=) n.540+5574T>C | ClinVar |
| 15 | g.42360027T>G | CA269853961 | CAPN3 | c.222T>G (p.Leu74=) n.540+5574T>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.42360027T= | CA2172697417 | CAPN3 | c.222T= (p.Leu74=) n.540+5574T= | |
| 15 | g.42360028T>A | CA391994915 | CAPN3 | c.223T>A (p.Tyr75Asn) n.540+5575T>A | |
| 15 | g.42360028T>C | CA391994918 | CAPN3 | c.223T>C (p.Tyr75His) n.540+5575T>C | |
| 15 | g.42360028T>G | CA391994920 | CAPN3 | c.223T>G (p.Tyr75Asp) n.540+5575T>G | |
| 15 | g.42360029A= | CA2172697418 | CAPN3 | c.224A= (p.Tyr75=) n.540+5576A= | |
| 15 | g.42360029A>C | CA391994923 | CAPN3 | c.224A>C (p.Tyr75Ser) n.540+5576A>C | |
| 15 | g.42360029A>G | CA391994924 | CAPN3 | c.224A>G (p.Tyr75Cys) n.540+5576A>G | ClinVar dbSNP |
| 15 | g.42360029A>T | CA391994926 | CAPN3 | c.224A>T (p.Tyr75Phe) n.540+5576A>T | gnomAD v4 |
| 15 | g.42360030T>A | CA391994930 | CAPN3 | c.225T>A (p.Tyr75Ter) n.540+5577T>A | |
| 15 | g.42360030T>C | CA489999162 | CAPN3 | c.225T>C (p.Tyr75=) n.540+5577T>C | |
| 15 | g.42360030T>G | CA391994928 | CAPN3 | c.225T>G (p.Tyr75Ter) n.540+5577T>G | |
| 15 | g.42360030dup | CA2695219979 | CAPN3 | c.225dup (p.Val76CysfsTer4) n.540+5577dup | |
| 15 | g.42360031G>A | CA391994933 | CAPN3 | c.226G>A (p.Val76Met) n.540+5578G>A | |
| 15 | g.42360031G>C | CA269853965 | CAPN3 | c.226G>C (p.Val76Leu) n.540+5578G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42360031G= | CA2172697419 | CAPN3 | c.226G= (p.Val76=) n.540+5578G= | |
| 15 | g.42360031G>T | CA391994935 | CAPN3 | c.226G>T (p.Val76Leu) n.540+5578G>T | dbSNP gnomAD v2 |
| 15 | g.42360032T>A | CA391994938 | CAPN3 | c.227T>A (p.Val76Glu) n.540+5579T>A | |
| 15 | g.42360032T>C | CA391994939 | CAPN3 | c.227T>C (p.Val76Ala) n.540+5579T>C | |
| 15 | g.42360032T>G | CA391994940 | CAPN3 | c.227T>G (p.Val76Gly) n.540+5579T>G | |
| 15 | g.42360033G>A | CA489999171 | CAPN3 | c.228G>A (p.Val76=) n.540+5580G>A | |
| 15 | g.42360033G>C | CA489999172 | CAPN3 | c.228G>C (p.Val76=) n.540+5580G>C | |
| 15 | g.42360033G>T | CA489999174 | CAPN3 | c.228G>T (p.Val76=) n.540+5580G>T | |
| 15 | g.42360034G>A | CA391994941 | CAPN3 | c.229G>A (p.Asp77Asn) n.540+5581G>A | ClinVar dbSNP |
| 15 | g.42360034G>C | CA391994942 | CAPN3 | c.229G>C (p.Asp77His) n.540+5581G>C | |
| 15 | g.42360034G>T | CA391994943 | CAPN3 | c.229G>T (p.Asp77Tyr) n.540+5581G>T | |
| 15 | g.42360035A>C | CA391994946 | CAPN3 | c.230A>C (p.Asp77Ala) n.540+5582A>C | |
| 15 | g.42360035A>G | CA391994944 | CAPN3 | c.230A>G (p.Asp77Gly) n.540+5582A>G | |
| 15 | g.42360035A>T | CA391994945 | CAPN3 | c.230A>T (p.Asp77Val) n.540+5582A>T | |
| 15 | g.42360035_42360036delinsAC | CA2172697420 | CAPN3 | c.230_231delinsAC (p.Asp77=) n.540+5582_540+5583delinsAC | |
| 15 | g.42360036C>A | CA391994947 | CAPN3 | c.231C>A (p.Asp77Glu) n.540+5583C>A | |
| 15 | g.42360036C>G | CA391994948 | CAPN3 | c.231C>G (p.Asp77Glu) n.540+5583C>G | |
| 15 | g.42360036C>T | CA489999177 | CAPN3 | c.231C>T (p.Asp77=) n.540+5583C>T | |
| 15 | g.42360038del | CA969122179 | CAPN3 | c.233del (p.Pro78LeufsTer?) n.540+5585del | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42360037C>A | CA7510874 | CAPN3 | c.232C>A (p.Pro78Thr) n.540+5584C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42360037C= | CA2172697421 | CAPN3 | c.232C= (p.Pro78=) n.540+5584C= | |
| 15 | g.42360037C>G | CA391994949 | CAPN3 | c.232C>G (p.Pro78Ala) n.540+5584C>G | gnomAD v4 |
| 15 | g.42360037C>T | CA7510875 | CAPN3 | c.232C>T (p.Pro78Ser) n.540+5584C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42360038C>A | CA391994952 | CAPN3 | c.233C>A (p.Pro78His) n.540+5585C>A | |
| 15 | g.42360038C>G | CA391994950 | CAPN3 | c.233C>G (p.Pro78Arg) n.540+5585C>G | |
| 15 | g.42360038C>T | CA391994951 | CAPN3 | c.233C>T (p.Pro78Leu) n.540+5585C>T | |
| 15 | g.42360039T>A | CA489999185 | CAPN3 | c.234T>A (p.Pro78=) n.540+5586T>A | |
| 15 | g.42360039T>C | CA489999187 | CAPN3 | c.234T>C (p.Pro78=) n.540+5586T>C | |
| 15 | g.42360039T>G | CA489999188 | CAPN3 | c.234T>G (p.Pro78=) n.540+5586T>G | |
| 15 | g.42360040G>A | CA391994953 | CAPN3 | c.235G>A (p.Glu79Lys) n.540+5587G>A | |
| 15 | g.42360040G>C | CA391994954 | CAPN3 | c.235G>C (p.Glu79Gln) n.540+5587G>C | ClinVar dbSNP |
| 15 | g.42360040G= | CA2172697422 | CAPN3 | c.235G= (p.Glu79=) n.540+5587G= | |
| 15 | g.42360040G>T | CA391994956 | CAPN3 | c.235G>T (p.Glu79Ter) n.540+5587G>T | |
| 15 | g.42360041A= | CA2172697424 | CAPN3 | c.236A= (p.Glu79=) n.540+5588A= | |
| 15 | g.42360041A>C | CA391994959 | CAPN3 | c.236A>C (p.Glu79Ala) n.540+5588A>C | |
| 15 | g.42360041A>G | CA391994961 | CAPN3 | c.236A>G (p.Glu79Gly) n.540+5588A>G | dbSNP gnomAD v4 |
| 15 | g.42360041A>T | CA391994964 | CAPN3 | c.236A>T (p.Glu79Val) n.540+5588A>T | |
| 15 | g.42360041_42360042delinsAG | CA2172697423 | CAPN3 | c.236_237delinsAG (p.Glu79=) n.540+5588_540+5589delinsAG | |
| 15 | g.42360042del | CA7510876 | CAPN3 | c.237del (p.Glu79AspfsTer?) n.540+5589del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42360042G>A | CA489999194 | CAPN3 | c.237G>A (p.Glu79=) n.540+5589G>A | |
| 15 | g.42360042G>C | CA391994967 | CAPN3 | c.237G>C (p.Glu79Asp) n.540+5589G>C | |
| 15 | g.42360042G>T | CA391994969 | CAPN3 | c.237G>T (p.Glu79Asp) n.540+5589G>T | |
| 15 | g.42360043T>A | CA391994972 | CAPN3 | c.238T>A (p.Phe80Ile) n.540+5590T>A | |
| 15 | g.42360043T>C | CA391994974 | CAPN3 | c.238T>C (p.Phe80Leu) n.540+5590T>C | gnomAD v4 |
| 15 | g.42360043T>G | CA391994976 | CAPN3 | c.238T>G (p.Phe80Val) n.540+5590T>G | ClinVar |
| 15 | g.42360044T>A | CA391994979 | CAPN3 | c.239T>A (p.Phe80Tyr) n.540+5591T>A | |
| 15 | g.42360044T>C | CA10604698 | CAPN3 | c.239T>C (p.Phe80Ser) n.540+5591T>C | ClinVar dbSNP |
| 15 | g.42360044T>G | CA391994981 | CAPN3 | c.239T>G (p.Phe80Cys) n.540+5591T>G | |
| 15 | g.42360044T= | CA2172697425 | CAPN3 | c.239T= (p.Phe80=) n.540+5591T= | |
| 15 | g.42360045C>A | CA391994985 | CAPN3 | c.240C>A (p.Phe80Leu) n.540+5592C>A | |
| 15 | g.42360045C= | CA2172697426 | CAPN3 | c.240C= (p.Phe80=) n.540+5592C= | |
| 15 | g.42360045C>G | CA391994987 | CAPN3 | c.240C>G (p.Phe80Leu) n.540+5592C>G | ClinVar dbSNP |
| 15 | g.42360045C>T | CA489999202 | CAPN3 | c.240C>T (p.Phe80=) n.540+5592C>T | gnomAD v4 |
| 15 | g.42360046C>A | CA391994991 | CAPN3 | c.241C>A (p.Pro81Thr) n.540+5593C>A | |
| 15 | g.42360046C>G | CA391994993 | CAPN3 | c.241C>G (p.Pro81Ala) n.540+5593C>G | |
| 15 | g.42360046C>T | CA391994995 | CAPN3 | c.241C>T (p.Pro81Ser) n.540+5593C>T | |
| 15 | g.42360047C>A | CA391994999 | CAPN3 | c.242C>A (p.Pro81Gln) n.540+5594C>A | |
| 15 | g.42360047C>G | CA391995000 | CAPN3 | c.242C>G (p.Pro81Arg) n.540+5594C>G | |
| 15 | g.42360047C>T | CA391995002 | CAPN3 | c.242C>T (p.Pro81Leu) n.540+5594C>T | |
| 15 | g.42360048A= | CA2172697427 | CAPN3 | c.243A= (p.Pro81=) n.540+5595A= | |
| 15 | g.42360048A>C | CA489999208 | CAPN3 | c.243A>C (p.Pro81=) n.540+5595A>C | |
| 15 | g.42360048A>G | CA489999209 | CAPN3 | c.243A>G (p.Pro81=) n.540+5595A>G | ClinVar dbSNP |
| 15 | g.42360048A>T | CA489999210 | CAPN3 | c.243A>T (p.Pro81=) n.540+5595A>T | |
| 15 | g.42360049C>A | CA391995005 | CAPN3 | c.244C>A (p.Pro82Thr) n.540+5596C>A | |
| 15 | g.42360049C= | CA2172697428 | CAPN3 | c.244C= (p.Pro82=) n.540+5596C= | |
| 15 | g.42360049C>G | CA391995008 | CAPN3 | c.244C>G (p.Pro82Ala) n.540+5596C>G | |
| 15 | g.42360049C>T | CA391995010 | CAPN3 | c.244C>T (p.Pro82Ser) n.540+5596C>T | dbSNP |
| 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 |