Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38504325C>A | CA405676045 | RYR1 | c.8032C>A (p.Leu2678Ile) c.8029C>A (p.Leu2677Ile) c.1484C>A n.8115C>A | |
19 | g.38504325C>G | CA405676048 | RYR1 | c.8032C>G (p.Leu2678Val) c.8029C>G (p.Leu2677Val) c.1484C>G n.8115C>G | |
19 | g.38504325C>T | CA405676051 | RYR1 | c.8032C>T (p.Leu2678Phe) c.8029C>T (p.Leu2677Phe) c.1484C>T n.8115C>T | gnomAD v4 |
19 | g.38504326T>A | CA405676052 | RYR1 | c.8033T>A (p.Leu2678His) c.8030T>A (p.Leu2677His) c.1485T>A n.8116T>A | dbSNP gnomAD v4 |
19 | g.38504326T>C | CA405676055 | RYR1 | c.8033T>C (p.Leu2678Pro) c.8030T>C (p.Leu2677Pro) c.1485T>C n.8116T>C | |
19 | g.38504326T>G | CA405676057 | RYR1 | c.8033T>G (p.Leu2678Arg) c.8030T>G (p.Leu2677Arg) c.1485T>G n.8116T>G | |
19 | g.38504326T= | CA2335055614 | RYR1 | c.8033T= (p.Leu2678=) c.8030T= (p.Leu2677=) c.1485T= n.8116T= | |
19 | g.38504327C>A | CA507244272 | RYR1 | c.8034C>A (p.Leu2678=) c.8031C>A (p.Leu2677=) c.1486C>A n.8117C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38504327C= | CA2335055615 | RYR1 | c.8034C= (p.Leu2678=) c.8031C= (p.Leu2677=) c.1486C= n.8117C= | |
19 | g.38504327C>G | CA507244273 | RYR1 | c.8034C>G (p.Leu2678=) c.8031C>G (p.Leu2677=) c.1486C>G n.8117C>G | |
19 | g.38504327C>T | CA507244274 | RYR1 | c.8034C>T (p.Leu2678=) c.8031C>T (p.Leu2677=) c.1486C>T n.8117C>T | |
19 | g.38504328T>A | CA071329 | RYR1 | c.8035T>A (p.Phe2679Ile) c.8032T>A (p.Phe2678Ile) c.1487T>A n.8118T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38504328T>C | CA405676061 | RYR1 | c.8035T>C (p.Phe2679Leu) c.8032T>C (p.Phe2678Leu) c.1487T>C n.8118T>C | |
19 | g.38504328T>G | CA405676058 | RYR1 | c.8035T>G (p.Phe2679Val) c.8032T>G (p.Phe2678Val) c.1487T>G n.8118T>G | |
19 | g.38504328T= | CA2335055616 | RYR1 | c.8035T= (p.Phe2679=) c.8032T= (p.Phe2678=) c.1487T= n.8118T= | |
19 | g.38504329T>A | CA405676064 | RYR1 | c.8036T>A (p.Phe2679Tyr) c.8033T>A (p.Phe2678Tyr) c.1488T>A n.8119T>A | dbSNP |
19 | g.38504329T>C | CA405676066 | RYR1 | c.8036T>C (p.Phe2679Ser) c.8033T>C (p.Phe2678Ser) c.1488T>C n.8119T>C | |
19 | g.38504329T>G | CA405676068 | RYR1 | c.8036T>G (p.Phe2679Cys) c.8033T>G (p.Phe2678Cys) c.1488T>G n.8119T>G | |
19 | g.38504329T= | CA2335055617 | RYR1 | c.8036T= (p.Phe2679=) c.8033T= (p.Phe2678=) c.1488T= n.8119T= | |
19 | g.38504330C>A | CA405676070 | RYR1 | c.8037C>A (p.Phe2679Leu) c.8034C>A (p.Phe2678Leu) c.1489C>A n.8120C>A | |
19 | g.38504330C>G | CA405676072 | RYR1 | c.8037C>G (p.Phe2679Leu) c.8034C>G (p.Phe2678Leu) c.1489C>G n.8120C>G | |
19 | g.38504330C>T | CA507244275 | RYR1 | c.8037C>T (p.Phe2679=) c.8034C>T (p.Phe2678=) c.1489C>T n.8120C>T | |
19 | g.38504331T>A | CA083041 | RYR1 | c.8038T>A (p.Trp2680Arg) c.8035T>A (p.Trp2679Arg) c.1490T>A n.8121T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38504331T>C | CA405676073 | RYR1 | c.8038T>C (p.Trp2680Arg) c.8035T>C (p.Trp2679Arg) c.1490T>C n.8121T>C | |
19 | g.38504331T>G | CA405676076 | RYR1 | c.8038T>G (p.Trp2680Gly) c.8035T>G (p.Trp2679Gly) c.1490T>G n.8121T>G | |
19 | g.38504331T= | CA2335055618 | RYR1 | c.8038T= (p.Trp2680=) c.8035T= (p.Trp2679=) c.1490T= n.8121T= | |
19 | g.38504332G>A | CA405676078 | RYR1 | c.8039G>A (p.Trp2680Ter) c.8036G>A (p.Trp2679Ter) c.1491G>A n.8122G>A | COSMIC |
19 | g.38504332G>C | CA405676086 | RYR1 | c.8039G>C (p.Trp2680Ser) c.8036G>C (p.Trp2679Ser) c.1491G>C n.8122G>C | |
19 | g.38504332G>T | CA405676087 | RYR1 | c.8039G>T (p.Trp2680Leu) c.8036G>T (p.Trp2679Leu) c.1491G>T n.8122G>T | |
19 | g.38504333G>A | CA405676090 | RYR1 | c.8040G>A (p.Trp2680Ter) c.8037G>A (p.Trp2679Ter) c.1492G>A n.8123G>A | |
19 | g.38504333G>C | CA405676089 | RYR1 | c.8040G>C (p.Trp2680Cys) c.8037G>C (p.Trp2679Cys) c.1492G>C n.8123G>C | |
19 | g.38504333G>T | CA405676088 | RYR1 | c.8040G>T (p.Trp2680Cys) c.8037G>T (p.Trp2679Cys) c.1492G>T n.8123G>T | |
19 | g.38504334G>A | CA308115932 | RYR1 | c.8041G>A (p.Gly2681Ser) c.8038G>A (p.Gly2680Ser) c.1493G>A n.8124G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38504334G>C | CA405676092 | RYR1 | c.8041G>C (p.Gly2681Arg) c.8038G>C (p.Gly2680Arg) c.1493G>C n.8124G>C | |
19 | g.38504334G= | CA2335055619 | RYR1 | c.8041G= (p.Gly2681=) c.8038G= (p.Gly2680=) c.1493G= n.8124G= | |
19 | g.38504334G>T | CA405676094 | RYR1 | c.8041G>T (p.Gly2681Cys) c.8038G>T (p.Gly2680Cys) c.1493G>T n.8124G>T | |
19 | g.38504335G>A | CA405676095 | RYR1 | c.8042G>A (p.Gly2681Asp) c.8039G>A (p.Gly2680Asp) c.1494G>A n.8125G>A | ClinVar gnomAD v4 |
19 | g.38504335G>C | CA405676096 | RYR1 | c.8042G>C (p.Gly2681Ala) c.8039G>C (p.Gly2680Ala) c.1494G>C n.8125G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38504335G= | CA2335055620 | RYR1 | c.8042G= (p.Gly2681=) c.8039G= (p.Gly2680=) c.1494G= n.8125G= | |
19 | g.38504335G>T | CA405676097 | RYR1 | c.8042G>T (p.Gly2681Val) c.8039G>T (p.Gly2680Val) c.1494G>T n.8125G>T | |
19 | g.38504336C>A | CA507244276 | RYR1 | c.8043C>A (p.Gly2681=) c.8040C>A (p.Gly2680=) c.1495C>A n.8126C>A | |
19 | g.38504336C>G | CA507244277 | RYR1 | c.8043C>G (p.Gly2681=) c.8040C>G (p.Gly2680=) c.1495C>G n.8126C>G | |
19 | g.38504336C>T | CA507244278 | RYR1 | c.8043C>T (p.Gly2681=) c.8040C>T (p.Gly2680=) c.1495C>T n.8126C>T | |
19 | g.38504339_38504357dup | CA1139666425 | RYR1 | c.8046_8064dup (p.Lys2689LeufsTer2) c.8043_8061dup (p.Lys2688LeufsTer2) c.1498_1516dup n.8129_8147dup | ClinVar dbSNP |
19 | g.38504337A= | CA2335055621 | RYR1 | c.8044A= (p.Ile2682=) c.8041A= (p.Ile2681=) c.1496A= n.8127A= | |
19 | g.38504337A>C | CA405676099 | RYR1 | c.8044A>C (p.Ile2682Leu) c.8041A>C (p.Ile2681Leu) c.1496A>C n.8127A>C | |
19 | g.38504337A>G | CA308115933 | RYR1 | c.8044A>G (p.Ile2682Val) c.8041A>G (p.Ile2681Val) c.1496A>G n.8127A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38504337A>T | CA405676102 | RYR1 | c.8044A>T (p.Ile2682Phe) c.8041A>T (p.Ile2681Phe) c.1496A>T n.8127A>T | |
19 | g.38504338T>A | CA405676104 | RYR1 | c.8045T>A (p.Ile2682Asn) c.8042T>A (p.Ile2681Asn) c.1497T>A n.8128T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38504338T>C | CA405676106 | RYR1 | c.8045T>C (p.Ile2682Thr) c.8042T>C (p.Ile2681Thr) c.1497T>C n.8128T>C |