| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.42359960_42359962del | CA2628027666 | CAPN3 | c.155_157del (p.Pro52_Ile53delinsLeu) n.540+5507_540+5509del | gnomAD v4 |
| 15 | g.42359962A= | CA2172697387 | CAPN3 | c.157A= (p.Ile53=) n.540+5509A= | |
| 15 | g.42359962A>C | CA391994566 | CAPN3 | c.157A>C (p.Ile53Leu) n.540+5509A>C | |
| 15 | g.42359962A>G | CA7510863 | CAPN3 | c.157A>G (p.Ile53Val) n.540+5509A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359962A>T | CA391994570 | CAPN3 | c.157A>T (p.Ile53Phe) n.540+5509A>T | |
| 15 | g.42359963T>A | CA391994573 | CAPN3 | c.158T>A (p.Ile53Asn) n.540+5510T>A | |
| 15 | g.42359963T>C | CA391994577 | CAPN3 | c.158T>C (p.Ile53Thr) n.540+5510T>C | |
| 15 | g.42359963T>G | CA391994575 | CAPN3 | c.158T>G (p.Ile53Ser) n.540+5510T>G | |
| 15 | g.42359964T>A | CA489999040 | CAPN3 | c.159T>A (p.Ile53=) n.540+5511T>A | |
| 15 | g.42359964T>C | CA489999039 | CAPN3 | c.159T>C (p.Ile53=) n.540+5511T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359964T>G | CA391994579 | CAPN3 | c.159T>G (p.Ile53Met) n.540+5511T>G | |
| 15 | g.42359964T= | CA2172697389 | CAPN3 | c.159T= (p.Ile53=) n.540+5511T= | |
| 15 | g.42359964_42359967delinsTATC | CA2172697388 | CAPN3 | c.159_162delinsTATC (p.Ile53=) n.540+5511_540+5514delinsTATC | |
| 15 | g.42359965A= | CA2172697390 | CAPN3 | c.160A= (p.Ile54=) n.540+5512A= | |
| 15 | g.42359965A>C | CA391994583 | CAPN3 | c.160A>C (p.Ile54Leu) n.540+5512A>C | |
| 15 | g.42359965A>G | CA391994585 | CAPN3 | c.160A>G (p.Ile54Val) n.540+5512A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.42359965A>T | CA391994588 | CAPN3 | c.160A>T (p.Ile54Phe) n.540+5512A>T | |
| 15 | g.42359965_42359967del | CA618001481 | CAPN3 | c.160_162del (p.Ile54del) n.540+5512_540+5514del | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359965_42359970del | CA2628027674 | CAPN3 | c.160_165del (p.Ile54_Gly55del) n.540+5512_540+5517del | gnomAD v4 |
| 15 | g.42359966del | CA2695219976 | CAPN3 | c.161del (p.Ile54ThrfsTer3) n.540+5513del | |
| 15 | g.42359966T>A | CA391994594 | CAPN3 | c.161T>A (p.Ile54Asn) n.540+5513T>A | |
| 15 | g.42359966T>C | CA7510864 | CAPN3 | c.161T>C (p.Ile54Thr) n.540+5513T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359966T>G | CA391994591 | CAPN3 | c.161T>G (p.Ile54Ser) n.540+5513T>G | |
| 15 | g.42359966T= | CA2172697391 | CAPN3 | c.161T= (p.Ile54=) n.540+5513T= | |
| 15 | g.42359967C>A | CA489999042 | CAPN3 | c.162C>A (p.Ile54=) n.540+5514C>A | |
| 15 | g.42359967C= | CA2172697392 | CAPN3 | c.162C= (p.Ile54=) n.540+5514C= | |
| 15 | g.42359967C>G | CA391994596 | CAPN3 | c.162C>G (p.Ile54Met) n.540+5514C>G | |
| 15 | g.42359967C>T | CA7510865 | CAPN3 | c.162C>T (p.Ile54=) n.540+5514C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.42359968G>A | CA7510866 | CAPN3 | c.163G>A (p.Gly55Arg) n.540+5515G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.42359968G>C | CA391994601 | CAPN3 | c.163G>C (p.Gly55Arg) n.540+5515G>C | |
| 15 | g.42359968G= | CA2172697393 | CAPN3 | c.163G= (p.Gly55=) n.540+5515G= | |
| 15 | g.42359968G>T | CA391994603 | CAPN3 | c.163G>T (p.Gly55Ter) n.540+5515G>T | |
| 15 | g.42359969G>A | CA391994605 | CAPN3 | c.164G>A (p.Gly55Glu) n.540+5516G>A | |
| 15 | g.42359969G>C | CA269853887 | CAPN3 | c.164G>C (p.Gly55Ala) n.540+5516G>C | dbSNP |
| 15 | g.42359969G= | CA2172697394 | CAPN3 | c.164G= (p.Gly55=) n.540+5516G= | |
| 15 | g.42359969G>T | CA391994609 | CAPN3 | c.164G>T (p.Gly55Val) n.540+5516G>T | |
| 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= |