| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.42359941_42359950del | CA2739278830 | CAPN3 | c.136_145del (p.Ile46AlafsTer8) n.540+5488_540+5497del | ClinVar |
| 15 | g.42359938G>A | CA347575 | CAPN3 | c.133G>A (p.Ala45Thr) n.540+5485G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359938G>C | CA391994442 | CAPN3 | c.133G>C (p.Ala45Pro) n.540+5485G>C | |
| 15 | g.42359938G= | CA2172697372 | CAPN3 | c.133G= (p.Ala45=) n.540+5485G= | |
| 15 | g.42359938G>T | CA391994444 | CAPN3 | c.133G>T (p.Ala45Ser) n.540+5485G>T | |
| 15 | g.42359939C>A | CA391994447 | CAPN3 | c.134C>A (p.Ala45Asp) n.540+5486C>A | |
| 15 | g.42359939C>G | CA391994449 | CAPN3 | c.134C>G (p.Ala45Gly) n.540+5486C>G | |
| 15 | g.42359939C>T | CA391994452 | CAPN3 | c.134C>T (p.Ala45Val) n.540+5486C>T | ClinVar gnomAD v4 |
| 15 | g.42359939_42359942delinsCCAT | CA2172697373 | CAPN3 | c.134_137delinsCCAT (p.Ala45=) n.540+5486_540+5489delinsCCAT | |
| 15 | g.42359940C>A | CA489998967 | CAPN3 | c.135C>A (p.Ala45=) n.540+5487C>A | |
| 15 | g.42359940C>G | CA489998968 | CAPN3 | c.135C>G (p.Ala45=) n.540+5487C>G | |
| 15 | g.42359940C>T | CA489998970 | CAPN3 | c.135C>T (p.Ala45=) n.540+5487C>T | |
| 15 | g.42359945_42359947del | CA7510860 | CAPN3 | c.140_142del (p.Ile47del) n.540+5492_540+5494del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359941A= | CA2172697374 | CAPN3 | c.136A= (p.Ile46=) n.540+5488A= | |
| 15 | g.42359941A>C | CA391994457 | CAPN3 | c.136A>C (p.Ile46Leu) n.540+5488A>C | |
| 15 | g.42359941A>G | CA269853824 | CAPN3 | c.136A>G (p.Ile46Val) n.540+5488A>G | dbSNP gnomAD v4 |
| 15 | g.42359941A>T | CA391994459 | CAPN3 | c.136A>T (p.Ile46Phe) n.540+5488A>T | |
| 15 | g.42359942T>A | CA391994462 | CAPN3 | c.137T>A (p.Ile46Asn) n.540+5489T>A | |
| 15 | g.42359942T>C | CA7510861 | CAPN3 | c.137T>C (p.Ile46Thr) n.540+5489T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42359942T>G | CA391994465 | CAPN3 | c.137T>G (p.Ile46Ser) n.540+5489T>G | |
| 15 | g.42359942T= | CA2172697375 | CAPN3 | c.137T= (p.Ile46=) n.540+5489T= | |
| 15 | g.42359943C>A | CA489998972 | CAPN3 | c.138C>A (p.Ile46=) n.540+5490C>A | |
| 15 | g.42359943C>G | CA391994468 | CAPN3 | c.138C>G (p.Ile46Met) n.540+5490C>G | |
| 15 | g.42359943C>T | CA489998973 | CAPN3 | c.138C>T (p.Ile46=) n.540+5490C>T | gnomAD v4 |
| 15 | g.42359944A= | CA2172697376 | CAPN3 | c.139A= (p.Ile47=) n.540+5491A= | |
| 15 | g.42359944A>C | CA391994470 | CAPN3 | c.139A>C (p.Ile47Leu) n.540+5491A>C | |
| 15 | g.42359944A>G | CA391994472 | CAPN3 | c.139A>G (p.Ile47Val) n.540+5491A>G | dbSNP |
| 15 | g.42359944A>T | CA391994474 | CAPN3 | c.139A>T (p.Ile47Phe) n.540+5491A>T | |
| 15 | g.42359945T>A | CA391994476 | CAPN3 | c.140T>A (p.Ile47Asn) n.540+5492T>A | |
| 15 | g.42359945T>C | CA391994477 | CAPN3 | c.140T>C (p.Ile47Thr) n.540+5492T>C | dbSNP |
| 15 | g.42359945T>G | CA391994479 | CAPN3 | c.140T>G (p.Ile47Ser) n.540+5492T>G | |
| 15 | g.42359945T= | CA2172697377 | CAPN3 | c.140T= (p.Ile47=) n.540+5492T= | |
| 15 | g.42359946C>A | CA489998976 | CAPN3 | c.141C>A (p.Ile47=) n.540+5493C>A | |
| 15 | g.42359946C= | CA2172697378 | CAPN3 | c.141C= (p.Ile47=) n.540+5493C= | |
| 15 | g.42359946C>G | CA391994481 | CAPN3 | c.141C>G (p.Ile47Met) n.540+5493C>G | |
| 15 | g.42359946C>T | CA489999007 | CAPN3 | c.141C>T (p.Ile47=) n.540+5493C>T | ClinVar dbSNP |
| 15 | g.42359947A= | CA2172697379 | CAPN3 | c.142A= (p.Ser48=) n.540+5494A= | |
| 15 | g.42359947A>C | CA391994488 | CAPN3 | c.142A>C (p.Ser48Arg) n.540+5494A>C | |
| 15 | g.42359947A>G | CA391994484 | CAPN3 | c.142A>G (p.Ser48Gly) n.540+5494A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359947A>T | CA391994486 | CAPN3 | c.142A>T (p.Ser48Cys) n.540+5494A>T | |
| 15 | g.42359948G>A | CA7510862 | CAPN3 | c.143G>A (p.Ser48Asn) n.540+5495G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42359948G>C | CA391994491 | CAPN3 | c.143G>C (p.Ser48Thr) n.540+5495G>C | |
| 15 | g.42359948G= | CA2172697380 | CAPN3 | c.143G= (p.Ser48=) n.540+5495G= | |
| 15 | g.42359948G>T | CA391994494 | CAPN3 | c.143G>T (p.Ser48Ile) n.540+5495G>T | |
| 15 | g.42359949C>A | CA391994497 | CAPN3 | c.144C>A (p.Ser48Arg) n.540+5496C>A | |
| 15 | g.42359949C>G | CA391994499 | CAPN3 | c.144C>G (p.Ser48Arg) n.540+5496C>G | |
| 15 | g.42359949C>T | CA489999011 | CAPN3 | c.144C>T (p.Ser48=) n.540+5496C>T | |
| 15 | g.42359950C>A | CA391994503 | CAPN3 | c.145C>A (p.Arg49Ser) n.540+5497C>A | |
| 15 | g.42359950C= | CA2172697381 | CAPN3 | c.145C= (p.Arg49=) n.540+5497C= | |
| 15 | g.42359950C>G | CA391994505 | CAPN3 | c.145C>G (p.Arg49Gly) n.540+5497C>G |