UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.42359939_42359942delinsCCAT | CA2172697373 | CAPN3 | c.134_137delinsCCAT (p.Ala45=) n.540+5486_540+5489delinsCCAT | |
| 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 | |
| 15 | g.42359950C>T | CA346852 | CAPN3 | c.145C>T (p.Arg49Cys) n.540+5497C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.42359951G>A | CA347493 | CAPN3 | c.146G>A (p.Arg49His) n.540+5498G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.42359951G>C | CA391994512 | CAPN3 | c.146G>C (p.Arg49Pro) n.540+5498G>C | |
| 15 | g.42359951G= | CA2172697382 | CAPN3 | c.146G= (p.Arg49=) n.540+5498G= | |
| 15 | g.42359951G>T | CA391994514 | CAPN3 | c.146G>T (p.Arg49Leu) n.540+5498G>T | |
| 15 | g.42359952C>A | CA489999022 | CAPN3 | c.147C>A (p.Arg49=) n.540+5499C>A | |
| 15 | g.42359952C>G | CA489999021 | CAPN3 | c.147C>G (p.Arg49=) n.540+5499C>G | |
| 15 | g.42359952C>T | CA489999019 | CAPN3 | c.147C>T (p.Arg49=) n.540+5499C>T | |
| 15 | g.42359953A>C | CA391994519 | CAPN3 | c.148A>C (p.Asn50His) n.540+5500A>C | |
| 15 | g.42359953A>G | CA391994522 | CAPN3 | c.148A>G (p.Asn50Asp) n.540+5500A>G | gnomAD v4 |
| 15 | g.42359953A>T | CA391994517 | CAPN3 | c.148A>T (p.Asn50Tyr) n.540+5500A>T | |
| 15 | g.42359954A= | CA2172697383 | CAPN3 | c.149A= (p.Asn50=) n.540+5501A= | |
| 15 | g.42359954A>C | CA391994530 | CAPN3 | c.149A>C (p.Asn50Thr) n.540+5501A>C | |
| 15 | g.42359954A>G | CA391994524 | CAPN3 | c.149A>G (p.Asn50Ser) n.540+5501A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42359954A>T | CA391994527 | CAPN3 | c.149A>T (p.Asn50Ile) n.540+5501A>T | |
| 15 | g.42359955T>A | CA391994532 | CAPN3 | c.150T>A (p.Asn50Lys) n.540+5502T>A | |
| 15 | g.42359955T>C | CA489999027 | CAPN3 | c.150T>C (p.Asn50=) n.540+5502T>C | dbSNP gnomAD v2 |
| 15 | g.42359955T>G | CA391994533 | CAPN3 | c.150T>G (p.Asn50Lys) n.540+5502T>G | |
| 15 | g.42359955T= | CA2172697384 | CAPN3 | c.150T= (p.Asn50=) n.540+5502T= | |
| 15 | g.42359956T>A | CA391994535 | CAPN3 | c.151T>A (p.Phe51Ile) n.540+5503T>A | |
| 15 | g.42359956T>C | CA391994537 | CAPN3 | c.151T>C (p.Phe51Leu) n.540+5503T>C | ClinVar gnomAD v4 |
| 15 | g.42359956T>G | CA391994539 | CAPN3 | c.151T>G (p.Phe51Val) n.540+5503T>G | |
| 15 | g.42359957T>A | CA391994542 | CAPN3 | c.152T>A (p.Phe51Tyr) n.540+5504T>A | |
| 15 | g.42359957T>C | CA391994543 | CAPN3 | c.152T>C (p.Phe51Ser) n.540+5504T>C | |
| 15 | g.42359957T>G | CA391994544 | CAPN3 | c.152T>G (p.Phe51Cys) n.540+5504T>G | |
| 15 | g.42359958T>A | CA391994548 | CAPN3 | c.153T>A (p.Phe51Leu) n.540+5505T>A | |
| 15 | g.42359958T>C | CA489999031 | CAPN3 | c.153T>C (p.Phe51=) n.540+5505T>C | |
| 15 | g.42359958T>G | CA391994550 | CAPN3 | c.153T>G (p.Phe51Leu) n.540+5505T>G | gnomAD v4 |
| 15 | g.42359959C>A | CA391994555 | CAPN3 | c.154C>A (p.Pro52Thr) n.540+5506C>A | |
| 15 | g.42359959C= | CA2172697385 | CAPN3 | c.154C= (p.Pro52=) n.540+5506C= | |
| 15 | g.42359959C>G | CA391994556 | CAPN3 | c.154C>G (p.Pro52Ala) n.540+5506C>G | |
| 15 | g.42359959C>T | CA391994553 | CAPN3 | c.154C>T (p.Pro52Ser) n.540+5506C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42359960C>A | CA391994559 | CAPN3 | c.155C>A (p.Pro52His) n.540+5507C>A | |
| 15 | g.42359960C= | CA2172697386 | CAPN3 | c.155C= (p.Pro52=) n.540+5507C= | |
| 15 | g.42359960C>G | CA391994561 | CAPN3 | c.155C>G (p.Pro52Arg) n.540+5507C>G | dbSNP |
| 15 | g.42359960C>T | CA391994563 | CAPN3 | c.155C>T (p.Pro52Leu) n.540+5507C>T | gnomAD v4 |
| 15 | g.42359960_42359962del | CA2628027666 | CAPN3 | c.155_157del (p.Pro52_Ile53delinsLeu) n.540+5507_540+5509del | gnomAD v4 |
| 15 | g.42359961T>A | CA489999034 | CAPN3 | c.156T>A (p.Pro52=) n.540+5508T>A | |
| 15 | g.42359961T>C | CA489999035 | CAPN3 | c.156T>C (p.Pro52=) n.540+5508T>C | |
| 15 | g.42359961T>G | CA489999036 | CAPN3 | c.156T>G (p.Pro52=) n.540+5508T>G | |
| 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= | |
| 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 | |
| 15 | g.42359984C>A | CA391994659 | CAPN3 | c.179C>A (p.Thr60Lys) n.540+5531C>A | |
| 15 | g.42359984C>G | CA391994662 | CAPN3 | c.179C>G (p.Thr60Arg) n.540+5531C>G | |
| 15 | g.42359984C>T | CA391994664 | CAPN3 | c.179C>T (p.Thr60Ile) n.540+5531C>T | |
| 15 | g.42359985A>C | CA489999072 | CAPN3 | c.180A>C (p.Thr60=) n.540+5532A>C | |
| 15 | g.42359985A>G | CA489999074 | CAPN3 | c.180A>G (p.Thr60=) n.540+5532A>G | |
| 15 | g.42359985A>T | CA489999073 | CAPN3 | c.180A>T (p.Thr60=) n.540+5532A>T | |
| 15 | g.42359986T>A | CA391994667 | CAPN3 | c.181T>A (p.Phe61Ile) n.540+5533T>A | |
| 15 | g.42359986T>C | CA391994669 | CAPN3 | c.181T>C (p.Phe61Leu) n.540+5533T>C | dbSNP |
| 15 | g.42359986T>G | CA391994672 | CAPN3 | c.181T>G (p.Phe61Val) n.540+5533T>G | |
| 15 | g.42359986T= | CA2172697400 | CAPN3 | c.181T= (p.Phe61=) n.540+5533T= | |
| 15 | g.42359987T>A | CA391994679 | CAPN3 | c.182T>A (p.Phe61Tyr) n.540+5534T>A | |
| 15 | g.42359987T>C | CA391994677 | CAPN3 | c.182T>C (p.Phe61Ser) n.540+5534T>C | |
| 15 | g.42359987T>G | CA391994674 | CAPN3 | c.182T>G (p.Phe61Cys) n.540+5534T>G | |
| 15 | g.42359987_42359994del | CA2628027692 | CAPN3 | c.182_189del (p.Phe61SerfsTer16) n.540+5534_540+5541del | gnomAD v4 |
| 15 | g.42359988C>A | CA391994682 | CAPN3 | c.183C>A (p.Phe61Leu) n.540+5535C>A | |
| 15 | g.42359988C= | CA2172697401 | CAPN3 | c.183C= (p.Phe61=) n.540+5535C= | |
| 15 | g.42359988C>G | CA391994684 | CAPN3 | c.183C>G (p.Phe61Leu) n.540+5535C>G | |
| 15 | g.42359988C>T | CA7510870 | CAPN3 | c.183C>T (p.Phe61=) n.540+5535C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.42359989G>A | CA7510871 | CAPN3 | c.184G>A (p.Glu62Lys) n.540+5536G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.42359989G>C | CA391994691 | CAPN3 | c.184G>C (p.Glu62Gln) n.540+5536G>C | |
| 15 | g.42359989G= | CA2172697402 | CAPN3 | c.184G= (p.Glu62=) n.540+5536G= | |
| 15 | g.42359989G>T | CA391994693 | CAPN3 | c.184G>T (p.Glu62Ter) n.540+5536G>T | gnomAD v4 |
| 15 | g.42359990A>C | CA391994696 | CAPN3 | c.185A>C (p.Glu62Ala) n.540+5537A>C | |
| 15 | g.42359990A>G | CA391994698 | CAPN3 | c.185A>G (p.Glu62Gly) n.540+5537A>G | |
| 15 | g.42359990A>T | CA391994700 | CAPN3 | c.185A>T (p.Glu62Val) n.540+5537A>T | |
| 15 | g.42359991G>A | CA489999086 | CAPN3 | c.186G>A (p.Glu62=) n.540+5538G>A | COSMIC COSMIC |
| 15 | g.42359991G>C | CA391994702 | CAPN3 | c.186G>C (p.Glu62Asp) n.540+5538G>C | |
| 15 | g.42359991G>T | CA391994704 | CAPN3 | c.186G>T (p.Glu62Asp) n.540+5538G>T | |
| 15 | g.42359992C>A | CA391994707 | CAPN3 | c.187C>A (p.Gln63Lys) n.540+5539C>A | |
| 15 | g.42359992C>G | CA391994710 | CAPN3 | c.187C>G (p.Gln63Glu) n.540+5539C>G | |
| 15 | g.42359992C>T | CA391994712 | CAPN3 | c.187C>T (p.Gln63Ter) n.540+5539C>T | |
| 15 | g.42359993A>C | CA391994718 | CAPN3 | c.188A>C (p.Gln63Pro) n.540+5540A>C | |
| 15 | g.42359993A>G | CA391994721 | CAPN3 | c.188A>G (p.Gln63Arg) n.540+5540A>G | |
| 15 | g.42359993A>T | CA391994716 | CAPN3 | c.188A>T (p.Gln63Leu) n.540+5540A>T | gnomAD v4 |
| 15 | g.42359994A>C | CA391994723 | CAPN3 | c.189A>C (p.Gln63His) n.540+5541A>C | |
| 15 | g.42359994A>G | CA489999089 | CAPN3 | c.189A>G (p.Gln63=) n.540+5541A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.42359994A>T | CA391994726 | CAPN3 | c.189A>T (p.Gln63His) n.540+5541A>T | |
| 15 | g.42359995C>A | CA391994729 | CAPN3 | c.190C>A (p.Leu64Ile) n.540+5542C>A | |
| 15 | g.42359995C>G | CA391994731 | CAPN3 | c.190C>G (p.Leu64Val) n.540+5542C>G | |
| 15 | g.42359995C>T | CA391994733 | CAPN3 | c.190C>T (p.Leu64Phe) n.540+5542C>T | gnomAD v4 |
| 15 | g.42359996T>A | CA391994737 | CAPN3 | c.191T>A (p.Leu64His) n.540+5543T>A | dbSNP gnomAD v4 |
| 15 | g.42359996T>C | CA391994738 | CAPN3 | c.191T>C (p.Leu64Pro) n.540+5543T>C | |
| 15 | g.42359996T>G | CA391994741 | CAPN3 | c.191T>G (p.Leu64Arg) n.540+5543T>G | |
| 15 | g.42359996T= | CA2172697403 | CAPN3 | c.191T= (p.Leu64=) n.540+5543T= | |
| 15 | g.42359997T>A | CA489999095 | CAPN3 | c.192T>A (p.Leu64=) n.540+5544T>A | |
| 15 | g.42359997T>C | CA489999097 | CAPN3 | c.192T>C (p.Leu64=) n.540+5544T>C | |
| 15 | g.42359997T>G | CA489999099 | CAPN3 | c.192T>G (p.Leu64=) n.540+5544T>G | |
| 15 | g.42359998del | CA2573150742 | CAPN3 | c.193del (p.His65ThrfsTer5) n.540+5545del | ClinVar dbSNP |
| 15 | g.42359998C>A | CA391994745 | CAPN3 | c.193C>A (p.His65Asn) n.540+5545C>A | |
| 15 | g.42359998C= | CA2172697404 | CAPN3 | c.193C= (p.His65=) n.540+5545C= | |
| 15 | g.42359998C>G | CA269853942 | CAPN3 | c.193C>G (p.His65Asp) n.540+5545C>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.42359998C>T | CA391994748 | CAPN3 | c.193C>T (p.His65Tyr) n.540+5545C>T | gnomAD v4 |
| 15 | g.42359999A>C | CA391994751 | CAPN3 | c.194A>C (p.His65Pro) n.540+5546A>C | |
| 15 | g.42359999A>G | CA391994753 | CAPN3 | c.194A>G (p.His65Arg) n.540+5546A>G | |
| 15 | g.42359999A>T | CA391994756 | CAPN3 | c.194A>T (p.His65Leu) n.540+5546A>T | |
| 15 | g.42360000C>A | CA391994758 | CAPN3 | c.195C>A (p.His65Gln) n.540+5547C>A | gnomAD v4 |
| 15 | g.42360000C>G | CA391994760 | CAPN3 | c.195C>G (p.His65Gln) n.540+5547C>G | |
| 15 | g.42360000C>T | CA489999104 | CAPN3 | c.195C>T (p.His65=) n.540+5547C>T | |
| 15 | g.42360001A= | CA2172697405 | CAPN3 | c.196A= (p.Lys66=) n.540+5548A= | |
| 15 | g.42360001A>C | CA391994763 | CAPN3 | c.196A>C (p.Lys66Gln) n.540+5548A>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.42360001A>G | CA391994765 | CAPN3 | c.196A>G (p.Lys66Glu) n.540+5548A>G | |
| 15 | g.42360001A>T | CA391994767 | CAPN3 | c.196A>T (p.Lys66Ter) n.540+5548A>T | |
| 15 | g.42360002A>C | CA391994771 | CAPN3 | c.197A>C (p.Lys66Thr) n.540+5549A>C | |
| 15 | g.42360002A>G | CA391994773 | CAPN3 | c.197A>G (p.Lys66Arg) n.540+5549A>G | |
| 15 | g.42360002A>T | CA391994775 | CAPN3 | c.197A>T (p.Lys66Met) n.540+5549A>T | |
| 15 | g.42360003G>A | CA489999108 | CAPN3 | c.198G>A (p.Lys66=) n.540+5550G>A | |
| 15 | g.42360003G>C | CA391994778 | CAPN3 | c.198G>C (p.Lys66Asn) n.540+5550G>C | |
| 15 | g.42360003G>T | CA391994780 | CAPN3 | c.198G>T (p.Lys66Asn) n.540+5550G>T | |
| 15 | g.42360004A>C | CA391994783 | CAPN3 | c.199A>C (p.Lys67Gln) n.540+5551A>C | |
| 15 | g.42360004A>G | CA391994785 | CAPN3 | c.199A>G (p.Lys67Glu) n.540+5551A>G | |
| 15 | g.42360004A>T | CA391994787 | CAPN3 | c.199A>T (p.Lys67Ter) n.540+5551A>T | |
| 15 | g.42360005A>C | CA391994790 | CAPN3 | c.200A>C (p.Lys67Thr) n.540+5552A>C | |
| 15 | g.42360005A>G | CA391994795 | CAPN3 | c.200A>G (p.Lys67Arg) n.540+5552A>G | |
| 15 | g.42360005A>T | CA391994792 | CAPN3 | c.200A>T (p.Lys67Ile) n.540+5552A>T | |
| 15 | g.42360006A= | CA2172697406 | CAPN3 | c.201A= (p.Lys67=) n.540+5553A= | |
| 15 | g.42360006A>C | CA391994798 | CAPN3 | c.201A>C (p.Lys67Asn) n.540+5553A>C | |
| 15 | g.42360006A>G | CA489999112 | CAPN3 | c.201A>G (p.Lys67=) n.540+5553A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42360006A>T | CA391994800 | CAPN3 | c.201A>T (p.Lys67Asn) n.540+5553A>T | |
| 15 | g.42360007T>A | CA391994802 | CAPN3 | c.202T>A (p.Cys68Ser) n.540+5554T>A | |
| 15 | g.42360007T>C | CA391994806 | CAPN3 | c.202T>C (p.Cys68Arg) n.540+5554T>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.42360007T>G | CA391994808 | CAPN3 | c.202T>G (p.Cys68Gly) n.540+5554T>G | |
| 15 | g.42360008G>A | CA391994811 | CAPN3 | c.203G>A (p.Cys68Tyr) n.540+5555G>A | |
| 15 | g.42360008G>C | CA391994812 | CAPN3 | c.203G>C (p.Cys68Ser) n.540+5555G>C | |
| 15 | g.42360008G= | CA2172697407 | CAPN3 | c.203G= (p.Cys68=) n.540+5555G= | |
| 15 | g.42360008G>T | CA391994814 | CAPN3 | c.203G>T (p.Cys68Phe) n.540+5555G>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42360009T>A | CA391994816 | CAPN3 | c.204T>A (p.Cys68Ter) n.540+5556T>A | |
| 15 | g.42360009T>C | CA489999116 | CAPN3 | c.204T>C (p.Cys68=) n.540+5556T>C | gnomAD v4 |
| 15 | g.42360009T>G | CA391994818 | CAPN3 | c.204T>G (p.Cys68Trp) n.540+5556T>G | |
| 15 | g.42360010C>A | CA391994821 | CAPN3 | c.205C>A (p.Leu69Ile) n.540+5557C>A | |
| 15 | g.42360010C>G | CA391994824 | CAPN3 | c.205C>G (p.Leu69Val) n.540+5557C>G | |
| 15 | g.42360010C>T | CA489999119 | CAPN3 | c.205C>T (p.Leu69=) n.540+5557C>T | |
| 15 | g.42360011T>A | CA391994827 | CAPN3 | c.206T>A (p.Leu69Gln) n.540+5558T>A | |
| 15 | g.42360011T>C | CA391994829 | CAPN3 | c.206T>C (p.Leu69Pro) n.540+5558T>C | |
| 15 | g.42360011T>G | CA391994831 | CAPN3 | c.206T>G (p.Leu69Arg) n.540+5558T>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42360011T= | CA2172697408 | CAPN3 | c.206T= (p.Leu69=) n.540+5558T= | |
| 15 | g.42360012A>C | CA489999121 | CAPN3 | c.207A>C (p.Leu69=) n.540+5559A>C | |
| 15 | g.42360012A>G | CA489999123 | CAPN3 | c.207A>G (p.Leu69=) n.540+5559A>G | gnomAD v4 |
| 15 | g.42360012A>T | CA489999122 | CAPN3 | c.207A>T (p.Leu69=) n.540+5559A>T | |
| 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 |