Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38504232C>A | CA405675433 | RYR1 | c.7939C>A (p.His2647Asn) c.7936C>A (p.His2646Asn) c.1391C>A n.8022C>A | gnomAD v4 |
19 | g.38504232C>G | CA405675435 | RYR1 | c.7939C>G (p.His2647Asp) c.7936C>G (p.His2646Asp) c.1391C>G n.8022C>G | |
19 | g.38504232C>T | CA405675434 | RYR1 | c.7939C>T (p.His2647Tyr) c.7936C>T (p.His2646Tyr) c.1391C>T n.8022C>T | gnomAD v4 |
19 | g.38504233A>C | CA405675438 | RYR1 | c.7940A>C (p.His2647Pro) c.7937A>C (p.His2646Pro) c.1392A>C n.8023A>C | |
19 | g.38504233A>G | CA405675439 | RYR1 | c.7940A>G (p.His2647Arg) c.7937A>G (p.His2646Arg) c.1392A>G n.8023A>G | |
19 | g.38504233A>T | CA405675440 | RYR1 | c.7940A>T (p.His2647Leu) c.7937A>T (p.His2646Leu) c.1392A>T n.8023A>T | |
19 | g.38504234C>A | CA405675441 | RYR1 | c.7941C>A (p.His2647Gln) c.7938C>A (p.His2646Gln) c.1393C>A n.8024C>A | |
19 | g.38504234C= | CA2335055574 | RYR1 | c.7941C= (p.His2647=) c.7938C= (p.His2646=) c.1393C= n.8024C= | |
19 | g.38504234C>G | CA071151 | RYR1 | c.7941C>G (p.His2647Gln) c.7938C>G (p.His2646Gln) c.1393C>G n.8024C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38504234C>T | CA082944 | RYR1 | c.7941C>T (p.His2647=) c.7938C>T (p.His2646=) c.1393C>T n.8024C>T | gnomAD v4 |
19 | g.38504235T>A | CA405675447 | RYR1 | c.7942T>A (p.Tyr2648Asn) c.7939T>A (p.Tyr2647Asn) c.1394T>A n.8025T>A | |
19 | g.38504235T>C | CA405675444 | RYR1 | c.7942T>C (p.Tyr2648His) c.7939T>C (p.Tyr2647His) c.1394T>C n.8025T>C | |
19 | g.38504235T>G | CA405675443 | RYR1 | c.7942T>G (p.Tyr2648Asp) c.7939T>G (p.Tyr2647Asp) c.1394T>G n.8025T>G | |
19 | g.38504236A>C | CA405675454 | RYR1 | c.7943A>C (p.Tyr2648Ser) c.7940A>C (p.Tyr2647Ser) c.1395A>C n.8026A>C | |
19 | g.38504236A>G | CA405675451 | RYR1 | c.7943A>G (p.Tyr2648Cys) c.7940A>G (p.Tyr2647Cys) c.1395A>G n.8026A>G | ClinVar COSMIC |
19 | g.38504236A>T | CA405675457 | RYR1 | c.7943A>T (p.Tyr2648Phe) c.7940A>T (p.Tyr2647Phe) c.1395A>T n.8026A>T | |
19 | g.38504237T>A | CA405675458 | RYR1 | c.7944T>A (p.Tyr2648Ter) c.7941T>A (p.Tyr2647Ter) c.1396T>A n.8027T>A | |
19 | g.38504237T>C | CA507244147 | RYR1 | c.7944T>C (p.Tyr2648=) c.7941T>C (p.Tyr2647=) c.1396T>C n.8027T>C | |
19 | g.38504237T>G | CA405675461 | RYR1 | c.7944T>G (p.Tyr2648Ter) c.7941T>G (p.Tyr2647Ter) c.1396T>G n.8027T>G | gnomAD v4 |
19 | g.38504238G>A | CA405675466 | RYR1 | c.7945G>A (p.Glu2649Lys) c.7942G>A (p.Glu2648Lys) c.1397G>A n.8028G>A | |
19 | g.38504238G>C | CA405675470 | RYR1 | c.7945G>C (p.Glu2649Gln) c.7942G>C (p.Glu2648Gln) c.1397G>C n.8028G>C | |
19 | g.38504238G>T | CA405675476 | RYR1 | c.7945G>T (p.Glu2649Ter) c.7942G>T (p.Glu2648Ter) c.1397G>T n.8028G>T | |
19 | g.38504239A>C | CA405675478 | RYR1 | c.7946A>C (p.Glu2649Ala) c.7943A>C (p.Glu2648Ala) c.1398A>C n.8029A>C | |
19 | g.38504239A>G | CA405675482 | RYR1 | c.7946A>G (p.Glu2649Gly) c.7943A>G (p.Glu2648Gly) c.1398A>G n.8029A>G | |
19 | g.38504239A>T | CA405675484 | RYR1 | c.7946A>T (p.Glu2649Val) c.7943A>T (p.Glu2648Val) c.1398A>T n.8029A>T | |
19 | g.38504240G>A | CA507244149 | RYR1 | c.7947G>A (p.Glu2649=) c.7944G>A (p.Glu2648=) c.1399G>A n.8030G>A | COSMIC |
19 | g.38504240G>C | CA405675488 | RYR1 | c.7947G>C (p.Glu2649Asp) c.7944G>C (p.Glu2648Asp) c.1399G>C n.8030G>C | |
19 | g.38504240G>T | CA405675490 | RYR1 | c.7947G>T (p.Glu2649Asp) c.7944G>T (p.Glu2648Asp) c.1399G>T n.8030G>T | |
19 | g.38504241C>A | CA405675496 | RYR1 | c.7948C>A (p.Arg2650Ser) c.7945C>A (p.Arg2649Ser) c.1400C>A n.8031C>A | gnomAD v4 |
19 | g.38504241C= | CA2335055575 | RYR1 | c.7948C= (p.Arg2650=) c.7945C= (p.Arg2649=) c.1400C= n.8031C= | |
19 | g.38504241C>G | CA405675498 | RYR1 | c.7948C>G (p.Arg2650Gly) c.7945C>G (p.Arg2649Gly) c.1400C>G n.8031C>G | gnomAD v4 |
19 | g.38504241C>T | CA405675509 | RYR1 | c.7948C>T (p.Arg2650Cys) c.7945C>T (p.Arg2649Cys) c.1400C>T n.8031C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38504242G>A | CA071152 | RYR1 | c.7949G>A (p.Arg2650His) c.7946G>A (p.Arg2649His) c.1401G>A n.8032G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38504242G>C | CA405675516 | RYR1 | c.7949G>C (p.Arg2650Pro) c.7946G>C (p.Arg2649Pro) c.1401G>C n.8032G>C | |
19 | g.38504242G= | CA2335055576 | RYR1 | c.7949G= (p.Arg2650=) c.7946G= (p.Arg2649=) c.1401G= n.8032G= | |
19 | g.38504242G>T | CA405675517 | RYR1 | c.7949G>T (p.Arg2650Leu) c.7946G>T (p.Arg2649Leu) c.1401G>T n.8032G>T | dbSNP COSMIC |
19 | g.38504243C>A | CA507244150 | RYR1 | c.7950C>A (p.Arg2650=) c.7947C>A (p.Arg2649=) c.1402C>A n.8033C>A | dbSNP |
19 | g.38504243C= | CA2335055577 | RYR1 | c.7950C= (p.Arg2650=) c.7947C= (p.Arg2649=) c.1402C= n.8033C= | |
19 | g.38504243C>G | CA507244151 | RYR1 | c.7950C>G (p.Arg2650=) c.7947C>G (p.Arg2649=) c.1402C>G n.8033C>G | |
19 | g.38504243C>T | CA507244152 | RYR1 | c.7950C>T (p.Arg2650=) c.7947C>T (p.Arg2649=) c.1402C>T n.8033C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.38504244T>A | CA405675518 | RYR1 | c.7951T>A (p.Cys2651Ser) c.7948T>A (p.Cys2650Ser) c.1403T>A n.8034T>A | gnomAD v4 |
19 | g.38504244T>C | CA405675519 | RYR1 | c.7951T>C (p.Cys2651Arg) c.7948T>C (p.Cys2650Arg) c.1403T>C n.8034T>C | |
19 | g.38504244T>G | CA405675522 | RYR1 | c.7951T>G (p.Cys2651Gly) c.7948T>G (p.Cys2650Gly) c.1403T>G n.8034T>G | |
19 | g.38504245G>A | CA071159 | RYR1 | c.7952G>A (p.Cys2651Tyr) c.7949G>A (p.Cys2650Tyr) c.1404G>A n.8035G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38504245G>C | CA405675525 | RYR1 | c.7952G>C (p.Cys2651Ser) c.7949G>C (p.Cys2650Ser) c.1404G>C n.8035G>C | gnomAD v4 |
19 | g.38504245G= | CA2335055578 | RYR1 | c.7952G= (p.Cys2651=) c.7949G= (p.Cys2650=) c.1404G= n.8035G= | |
19 | g.38504245G>T | CA405675526 | RYR1 | c.7952G>T (p.Cys2651Phe) c.7949G>T (p.Cys2650Phe) c.1404G>T n.8035G>T | |
19 | g.38504246T>A | CA082946 | RYR1 | c.7953T>A (p.Cys2651Ter) c.7950T>A (p.Cys2650Ter) c.1405T>A n.8036T>A | |
19 | g.38504246T>C | CA507244156 | RYR1 | c.7953T>C (p.Cys2651=) c.7950T>C (p.Cys2650=) c.1405T>C n.8036T>C | |
19 | g.38504246T>G | CA405675529 | RYR1 | c.7953T>G (p.Cys2651Trp) c.7950T>G (p.Cys2650Trp) c.1405T>G n.8036T>G |