Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.42359965_42359970del | CA2628027674 | CAPN3 | c.160_165del (p.Ile54_Gly55del) n.540+5512_540+5517del | gnomAD v4 |
15 | g.42359970A>C | CA489999048 | CAPN3 | c.165A>C (p.Gly55=) n.540+5517A>C | |
15 | g.42359970A>G | CA489999049 | CAPN3 | c.165A>G (p.Gly55=) n.540+5517A>G | |
15 | g.42359970A>T | CA489999050 | CAPN3 | c.165A>T (p.Gly55=) n.540+5517A>T | |
15 | g.42359971G>A | CA391994612 | CAPN3 | c.166G>A (p.Val56Met) n.540+5518G>A | |
15 | g.42359971G>C | CA391994614 | CAPN3 | c.166G>C (p.Val56Leu) n.540+5518G>C | |
15 | g.42359971G>T | CA391994616 | CAPN3 | c.166G>T (p.Val56Leu) n.540+5518G>T | |
15 | g.42359972T>A | CA391994620 | CAPN3 | c.167T>A (p.Val56Glu) n.540+5519T>A | |
15 | g.42359972T>C | CA391994621 | CAPN3 | c.167T>C (p.Val56Ala) n.540+5519T>C | |
15 | g.42359972T>G | CA391994623 | CAPN3 | c.167T>G (p.Val56Gly) n.540+5519T>G | |
15 | g.42359973G>A | CA7510867 | CAPN3 | c.168G>A (p.Val56=) n.540+5520G>A | dbSNP ExAC |
15 | g.42359973G>C | CA489999053 | CAPN3 | c.168G>C (p.Val56=) n.540+5520G>C | |
15 | g.42359973G= | CA2172697395 | CAPN3 | c.168G= (p.Val56=) n.540+5520G= | |
15 | g.42359973G>T | CA489999055 | CAPN3 | c.168G>T (p.Val56=) n.540+5520G>T | |
15 | g.42359974A= | CA2172697396 | CAPN3 | c.169A= (p.Lys57=) n.540+5521A= | |
15 | g.42359974A>C | CA391994626 | CAPN3 | c.169A>C (p.Lys57Gln) n.540+5521A>C | gnomAD v4 |
15 | g.42359974A>G | CA7510868 | CAPN3 | c.169A>G (p.Lys57Glu) n.540+5521A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.42359974A>T | CA391994627 | CAPN3 | c.169A>T (p.Lys57Ter) n.540+5521A>T | |
15 | g.42359975A>C | CA391994628 | CAPN3 | c.170A>C (p.Lys57Thr) n.540+5522A>C | gnomAD v4 |
15 | g.42359975A>G | CA391994629 | CAPN3 | c.170A>G (p.Lys57Arg) n.540+5522A>G | |
15 | g.42359975A>T | CA391994630 | CAPN3 | c.170A>T (p.Lys57Ile) n.540+5522A>T | |
15 | g.42359976A>C | CA391994631 | CAPN3 | c.171A>C (p.Lys57Asn) n.540+5523A>C | |
15 | g.42359976A>G | CA489999058 | CAPN3 | c.171A>G (p.Lys57=) n.540+5523A>G | |
15 | g.42359976A>T | CA391994632 | CAPN3 | c.171A>T (p.Lys57Asn) n.540+5523A>T | gnomAD v4 |
15 | g.42359977G>A | CA391994633 | CAPN3 | c.172G>A (p.Glu58Lys) n.540+5524G>A | ClinVar dbSNP |
15 | g.42359977G>C | CA391994634 | CAPN3 | c.172G>C (p.Glu58Gln) n.540+5524G>C | |
15 | g.42359977G= | CA2172697397 | CAPN3 | c.172G= (p.Glu58=) n.540+5524G= | |
15 | g.42359977G>T | CA7510869 | CAPN3 | c.172G>T (p.Glu58Ter) n.540+5524G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.42359978A= | CA2172697398 | CAPN3 | c.173A= (p.Glu58=) n.540+5525A= | |
15 | g.42359978A>C | CA391994635 | CAPN3 | c.173A>C (p.Glu58Ala) n.540+5525A>C | |
15 | g.42359978A>G | CA391994636 | CAPN3 | c.173A>G (p.Glu58Gly) n.540+5525A>G | dbSNP gnomAD v4 |
15 | g.42359978A>T | CA391994637 | CAPN3 | c.173A>T (p.Glu58Val) n.540+5525A>T | dbSNP |
15 | g.42359978_42359985del | CA2628027691 | CAPN3 | c.173_180del (p.Glu58ValfsTer19) n.540+5525_540+5532del | gnomAD v4 |
15 | g.42359979G>A | CA489999065 | CAPN3 | c.174G>A (p.Glu58=) n.540+5526G>A | ClinVar |
15 | g.42359979G>C | CA391994638 | CAPN3 | c.174G>C (p.Glu58Asp) n.540+5526G>C | |
15 | g.42359979G>T | CA391994639 | CAPN3 | c.174G>T (p.Glu58Asp) n.540+5526G>T | |
15 | g.42359980A>C | CA391994640 | CAPN3 | c.175A>C (p.Lys59Gln) n.540+5527A>C | |
15 | g.42359980A>G | CA391994642 | CAPN3 | c.175A>G (p.Lys59Glu) n.540+5527A>G | |
15 | g.42359980A>T | CA391994641 | CAPN3 | c.175A>T (p.Lys59Ter) n.540+5527A>T | |
15 | g.42359981A>C | CA391994643 | CAPN3 | c.176A>C (p.Lys59Thr) n.540+5528A>C | |
15 | g.42359981A>G | CA391994644 | CAPN3 | c.176A>G (p.Lys59Arg) n.540+5528A>G | |
15 | g.42359981A>T | CA391994645 | CAPN3 | c.176A>T (p.Lys59Met) n.540+5528A>T | |
15 | g.42359982G>A | CA489999069 | CAPN3 | c.177G>A (p.Lys59=) n.540+5529G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.42359982G>C | CA391994647 | CAPN3 | c.177G>C (p.Lys59Asn) n.540+5529G>C | |
15 | g.42359982G= | CA2172697399 | CAPN3 | c.177G= (p.Lys59=) n.540+5529G= | |
15 | g.42359982G>T | CA391994649 | CAPN3 | c.177G>T (p.Lys59Asn) n.540+5529G>T | |
15 | g.42359984_42359990del | CA2730812852 | CAPN3 | c.179_185del (p.Thr60SerfsTer8) n.540+5531_540+5537del | dbSNP |
15 | g.42359983A>C | CA391994652 | CAPN3 | c.178A>C (p.Thr60Pro) n.540+5530A>C | |
15 | g.42359983A>G | CA391994654 | CAPN3 | c.178A>G (p.Thr60Ala) n.540+5530A>G | |
15 | g.42359983A>T | CA391994657 | CAPN3 | c.178A>T (p.Thr60Ser) n.540+5530A>T |