| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38587333del | CA2740096909 | RYR1 | c.1957+757del c.3363del c.3335del n.423del c.15030del (p.Tyr5010Ter) c.15015del (p.Tyr5005Ter) c.15012del (p.Tyr5004Ter) c.14997del (p.Tyr4999Ter) c.15027del (p.Tyr5009Ter) c.14943del (p.Tyr4981Ter) | ClinVar |
| 19 | g.38587333T>A | CA16621739 | RYR1 | c.1957+757T>A c.3363T>A c.3335T>A n.423T>A c.15030T>A (p.Tyr5010Ter) c.15015T>A (p.Tyr5005Ter) c.15012T>A (p.Tyr5004Ter) c.14997T>A (p.Tyr4999Ter) c.15027T>A (p.Tyr5009Ter) c.14943T>A (p.Tyr4981Ter) | ClinVar dbSNP |
| 19 | g.38587333T>C | CA507246899 | RYR1 | c.1957+757T>C c.3363T>C c.3335T>C n.423T>C c.15030T>C (p.Tyr5010=) c.15015T>C (p.Tyr5005=) c.15012T>C (p.Tyr5004=) c.14997T>C (p.Tyr4999=) c.15027T>C (p.Tyr5009=) c.14943T>C (p.Tyr4981=) | |
| 19 | g.38587333T>G | CA405693989 | RYR1 | c.1957+757T>G c.3363T>G c.3335T>G n.423T>G c.15030T>G (p.Tyr5010Ter) c.15015T>G (p.Tyr5005Ter) c.15012T>G (p.Tyr5004Ter) c.14997T>G (p.Tyr4999Ter) c.15027T>G (p.Tyr5009Ter) c.14943T>G (p.Tyr4981Ter) | |
| 19 | g.38587333T= | CA2335096106 | RYR1 | c.1957+757T= c.3363T= c.3335T= n.423T= c.15030T= (p.Tyr5010=) c.15015T= (p.Tyr5005=) c.15012T= (p.Tyr5004=) c.14997T= (p.Tyr4999=) c.15027T= (p.Tyr5009=) c.14943T= (p.Tyr4981=) | |
| 19 | g.38587334G>A | CA405693994 | RYR1 | c.1957+758G>A c.3364G>A c.3336G>A n.424G>A c.15031G>A (p.Val5011Ile) c.15016G>A (p.Val5006Ile) c.15013G>A (p.Val5005Ile) c.14998G>A (p.Val5000Ile) c.15028G>A (p.Val5010Ile) c.14944G>A (p.Val4982Ile) | dbSNP gnomAD v2 |
| 19 | g.38587334G>C | CA405693996 | RYR1 | c.1957+758G>C c.3364G>C c.3336G>C n.424G>C c.15031G>C (p.Val5011Leu) c.15016G>C (p.Val5006Leu) c.15013G>C (p.Val5005Leu) c.14998G>C (p.Val5000Leu) c.15028G>C (p.Val5010Leu) c.14944G>C (p.Val4982Leu) | |
| 19 | g.38587334G= | CA2335096107 | RYR1 | c.1957+758G= c.3364G= c.3336G= n.424G= c.15031G= (p.Val5011=) c.15016G= (p.Val5006=) c.15013G= (p.Val5005=) c.14998G= (p.Val5000=) c.15028G= (p.Val5010=) c.14944G= (p.Val4982=) | |
| 19 | g.38587334G>T | CA405693992 | RYR1 | c.1957+758G>T c.3364G>T c.3336G>T n.424G>T c.15031G>T (p.Val5011Phe) c.15016G>T (p.Val5006Phe) c.15013G>T (p.Val5005Phe) c.14998G>T (p.Val5000Phe) c.15028G>T (p.Val5010Phe) c.14944G>T (p.Val4982Phe) | |
| 19 | g.38587335T>A | CA405693999 | RYR1 | c.1957+759T>A c.3365T>A c.3337T>A n.425T>A c.15032T>A (p.Val5011Asp) c.15017T>A (p.Val5006Asp) c.15014T>A (p.Val5005Asp) c.14999T>A (p.Val5000Asp) c.15029T>A (p.Val5010Asp) c.14945T>A (p.Val4982Asp) | |
| 19 | g.38587335T>C | CA405694000 | RYR1 | c.1957+759T>C c.3365T>C c.3337T>C n.425T>C c.15032T>C (p.Val5011Ala) c.15017T>C (p.Val5006Ala) c.15014T>C (p.Val5005Ala) c.14999T>C (p.Val5000Ala) c.15029T>C (p.Val5010Ala) c.14945T>C (p.Val4982Ala) | |
| 19 | g.38587335T>G | CA405694002 | RYR1 | c.1957+759T>G c.3365T>G c.3337T>G n.425T>G c.15032T>G (p.Val5011Gly) c.15017T>G (p.Val5006Gly) c.15014T>G (p.Val5005Gly) c.14999T>G (p.Val5000Gly) c.15029T>G (p.Val5010Gly) c.14945T>G (p.Val4982Gly) | |
| 19 | g.38587336C>A | CA507246903 | RYR1 | c.1957+760C>A c.3366C>A c.3338C>A n.426C>A c.15033C>A (p.Val5011=) c.15018C>A (p.Val5006=) c.15015C>A (p.Val5005=) c.15000C>A (p.Val5000=) c.15030C>A (p.Val5010=) c.14946C>A (p.Val4982=) | gnomAD v4 |
| 19 | g.38587336C= | CA2335096108 | RYR1 | c.1957+760C= c.3366C= c.3338C= n.426C= c.15033C= (p.Val5011=) c.15018C= (p.Val5006=) c.15015C= (p.Val5005=) c.15000C= (p.Val5000=) c.15030C= (p.Val5010=) c.14946C= (p.Val4982=) | |
| 19 | g.38587336C>G | CA507246904 | RYR1 | c.1957+760C>G c.3366C>G c.3338C>G n.426C>G c.15033C>G (p.Val5011=) c.15018C>G (p.Val5006=) c.15015C>G (p.Val5005=) c.15000C>G (p.Val5000=) c.15030C>G (p.Val5010=) c.14946C>G (p.Val4982=) | |
| 19 | g.38587336C>T | CA507246905 | RYR1 | c.1957+760C>T c.3366C>T c.3338C>T n.426C>T c.15033C>T (p.Val5011=) c.15018C>T (p.Val5006=) c.15015C>T (p.Val5005=) c.15000C>T (p.Val5000=) c.15030C>T (p.Val5010=) c.14946C>T (p.Val4982=) | |
| 19 | g.38587337T>A | CA405694006 | RYR1 | c.1957+761T>A c.3367T>A c.3339T>A n.427T>A c.15034T>A (p.Trp5012Arg) c.15019T>A (p.Trp5007Arg) c.15016T>A (p.Trp5006Arg) c.15001T>A (p.Trp5001Arg) c.15031T>A (p.Trp5011Arg) c.14947T>A (p.Trp4983Arg) | ClinVar dbSNP |
| 19 | g.38587337T>C | CA405694008 | RYR1 | c.1957+761T>C c.3367T>C c.3339T>C n.427T>C c.15034T>C (p.Trp5012Arg) c.15019T>C (p.Trp5007Arg) c.15016T>C (p.Trp5006Arg) c.15001T>C (p.Trp5001Arg) c.15031T>C (p.Trp5011Arg) c.14947T>C (p.Trp4983Arg) | |
| 19 | g.38587337T>G | CA405694009 | RYR1 | c.1957+761T>G c.3367T>G c.3339T>G n.427T>G c.15034T>G (p.Trp5012Gly) c.15019T>G (p.Trp5007Gly) c.15016T>G (p.Trp5006Gly) c.15001T>G (p.Trp5001Gly) c.15031T>G (p.Trp5011Gly) c.14947T>G (p.Trp4983Gly) | |
| 19 | g.38587337T= | CA2335096109 | RYR1 | c.1957+761T= c.3367T= c.3339T= n.427T= c.15034T= (p.Trp5012=) c.15019T= (p.Trp5007=) c.15016T= (p.Trp5006=) c.15001T= (p.Trp5001=) c.15031T= (p.Trp5011=) c.14947T= (p.Trp4983=) | |
| 19 | g.38587337dup | CA632878475 | RYR1 | c.1957+761dup c.3367dup c.3339dup n.427dup c.15034dup (p.Trp5012LeufsTer16) c.15019dup (p.Trp5007LeufsTer16) c.15016dup (p.Trp5006LeufsTer16) c.15001dup (p.Trp5001LeufsTer16) c.15031dup (p.Trp5011LeufsTer16) c.14947dup (p.Trp4983LeufsTer16) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38587338G>A | CA081409 | RYR1 | c.1957+762G>A c.3368G>A c.3340G>A n.428G>A c.15035G>A (p.Trp5012Ter) c.15020G>A (p.Trp5007Ter) c.15017G>A (p.Trp5006Ter) c.15002G>A (p.Trp5001Ter) c.15032G>A (p.Trp5011Ter) c.14948G>A (p.Trp4983Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38587338G>C | CA405694011 | RYR1 | c.1957+762G>C c.3368G>C c.3340G>C n.428G>C c.15035G>C (p.Trp5012Ser) c.15020G>C (p.Trp5007Ser) c.15017G>C (p.Trp5006Ser) c.15002G>C (p.Trp5001Ser) c.15032G>C (p.Trp5011Ser) c.14948G>C (p.Trp4983Ser) | |
| 19 | g.38587338G= | CA2335096110 | RYR1 | c.1957+762G= c.3368G= c.3340G= n.428G= c.15035G= (p.Trp5012=) c.15020G= (p.Trp5007=) c.15017G= (p.Trp5006=) c.15002G= (p.Trp5001=) c.15032G= (p.Trp5011=) c.14948G= (p.Trp4983=) | |
| 19 | g.38587338G>T | CA405694012 | RYR1 | c.1957+762G>T c.3368G>T c.3340G>T n.428G>T c.15035G>T (p.Trp5012Leu) c.15020G>T (p.Trp5007Leu) c.15017G>T (p.Trp5006Leu) c.15002G>T (p.Trp5001Leu) c.15032G>T (p.Trp5011Leu) c.14948G>T (p.Trp4983Leu) | |
| 19 | g.38587339G>A | CA405694015 | RYR1 | c.1957+763G>A c.3369G>A c.3341G>A n.429G>A c.15036G>A (p.Trp5012Ter) c.15021G>A (p.Trp5007Ter) c.15018G>A (p.Trp5006Ter) c.15003G>A (p.Trp5001Ter) c.15033G>A (p.Trp5011Ter) c.14949G>A (p.Trp4983Ter) | |
| 19 | g.38587339G>C | CA405694018 | RYR1 | c.1957+763G>C c.3369G>C c.3341G>C n.429G>C c.15036G>C (p.Trp5012Cys) c.15021G>C (p.Trp5007Cys) c.15018G>C (p.Trp5006Cys) c.15003G>C (p.Trp5001Cys) c.15033G>C (p.Trp5011Cys) c.14949G>C (p.Trp4983Cys) | |
| 19 | g.38587339G>T | CA405694028 | RYR1 | c.1957+763G>T c.3369G>T c.3341G>T n.429G>T c.15036G>T (p.Trp5012Cys) c.15021G>T (p.Trp5007Cys) c.15018G>T (p.Trp5006Cys) c.15003G>T (p.Trp5001Cys) c.15033G>T (p.Trp5011Cys) c.14949G>T (p.Trp4983Cys) | ClinVar gnomAD v4 |
| 19 | g.38587340A>C | CA405694038 | RYR1 | c.1957+764A>C c.3370A>C c.3342A>C n.430A>C c.15037A>C (p.Lys5013Gln) c.15022A>C (p.Lys5008Gln) c.15019A>C (p.Lys5007Gln) c.15004A>C (p.Lys5002Gln) c.15034A>C (p.Lys5012Gln) c.14950A>C (p.Lys4984Gln) | |
| 19 | g.38587340A>G | CA405694035 | RYR1 | c.1957+764A>G c.3370A>G c.3342A>G n.430A>G c.15037A>G (p.Lys5013Glu) c.15022A>G (p.Lys5008Glu) c.15019A>G (p.Lys5007Glu) c.15004A>G (p.Lys5002Glu) c.15034A>G (p.Lys5012Glu) c.14950A>G (p.Lys4984Glu) | |
| 19 | g.38587340A>T | CA405694033 | RYR1 | c.1957+764A>T c.3370A>T c.3342A>T n.430A>T c.15037A>T (p.Lys5013Ter) c.15022A>T (p.Lys5008Ter) c.15019A>T (p.Lys5007Ter) c.15004A>T (p.Lys5002Ter) c.15034A>T (p.Lys5012Ter) c.14950A>T (p.Lys4984Ter) | |
| 19 | g.38587341A>C | CA405694042 | RYR1 | c.1957+765A>C c.3371A>C c.3343A>C n.431A>C c.15038A>C (p.Lys5013Thr) c.15023A>C (p.Lys5008Thr) c.15020A>C (p.Lys5007Thr) c.15005A>C (p.Lys5002Thr) c.15035A>C (p.Lys5012Thr) c.14951A>C (p.Lys4984Thr) | |
| 19 | g.38587341A>G | CA405694043 | RYR1 | c.1957+765A>G c.3371A>G c.3343A>G n.431A>G c.15038A>G (p.Lys5013Arg) c.15023A>G (p.Lys5008Arg) c.15020A>G (p.Lys5007Arg) c.15005A>G (p.Lys5002Arg) c.15035A>G (p.Lys5012Arg) c.14951A>G (p.Lys4984Arg) | gnomAD v4 |
| 19 | g.38587341A>T | CA405694045 | RYR1 | c.1957+765A>T c.3371A>T c.3343A>T n.431A>T c.15038A>T (p.Lys5013Met) c.15023A>T (p.Lys5008Met) c.15020A>T (p.Lys5007Met) c.15005A>T (p.Lys5002Met) c.15035A>T (p.Lys5012Met) c.14951A>T (p.Lys4984Met) | |
| 19 | g.38587342G>A | CA062029 | RYR1 | c.1957+766G>A c.3372G>A c.3344G>A n.432G>A c.15039G>A (p.Lys5013=) c.15024G>A (p.Lys5008=) c.15021G>A (p.Lys5007=) c.15006G>A (p.Lys5002=) c.15036G>A (p.Lys5012=) c.14952G>A (p.Lys4984=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38587342G>C | CA405694049 | RYR1 | c.1957+766G>C c.3372G>C c.3344G>C n.432G>C c.15039G>C (p.Lys5013Asn) c.15024G>C (p.Lys5008Asn) c.15021G>C (p.Lys5007Asn) c.15006G>C (p.Lys5002Asn) c.15036G>C (p.Lys5012Asn) c.14952G>C (p.Lys4984Asn) | |
| 19 | g.38587342G= | CA2335096111 | RYR1 | c.1957+766G= c.3372G= c.3344G= n.432G= c.15039G= (p.Lys5013=) c.15024G= (p.Lys5008=) c.15021G= (p.Lys5007=) c.15006G= (p.Lys5002=) c.15036G= (p.Lys5012=) c.14952G= (p.Lys4984=) | |
| 19 | g.38587342G>T | CA405694052 | RYR1 | c.1957+766G>T c.3372G>T c.3344G>T n.432G>T c.15039G>T (p.Lys5013Asn) c.15024G>T (p.Lys5008Asn) c.15021G>T (p.Lys5007Asn) c.15006G>T (p.Lys5002Asn) c.15036G>T (p.Lys5012Asn) c.14952G>T (p.Lys4984Asn) | |
| 19 | g.38587343A>C | CA405694056 | RYR1 | c.1957+767A>C c.3373A>C c.3345A>C n.433A>C c.15040A>C (p.Met5014Leu) c.15025A>C (p.Met5009Leu) c.15022A>C (p.Met5008Leu) c.15007A>C (p.Met5003Leu) c.15037A>C (p.Met5013Leu) c.14953A>C (p.Met4985Leu) | |
| 19 | g.38587343A>G | CA405694059 | RYR1 | c.1957+767A>G c.3373A>G c.3345A>G n.433A>G c.15040A>G (p.Met5014Val) c.15025A>G (p.Met5009Val) c.15022A>G (p.Met5008Val) c.15007A>G (p.Met5003Val) c.15037A>G (p.Met5013Val) c.14953A>G (p.Met4985Val) | gnomAD v4 |
| 19 | g.38587343A>T | CA405694061 | RYR1 | c.1957+767A>T c.3373A>T c.3345A>T n.433A>T c.15040A>T (p.Met5014Leu) c.15025A>T (p.Met5009Leu) c.15022A>T (p.Met5008Leu) c.15007A>T (p.Met5003Leu) c.15037A>T (p.Met5013Leu) c.14953A>T (p.Met4985Leu) | |
| 19 | g.38587344T>A | CA405694065 | RYR1 | c.1957+768T>A c.3374T>A c.3346T>A n.434T>A c.15041T>A (p.Met5014Lys) c.15026T>A (p.Met5009Lys) c.15023T>A (p.Met5008Lys) c.15008T>A (p.Met5003Lys) c.15038T>A (p.Met5013Lys) c.14954T>A (p.Met4985Lys) | |
| 19 | g.38587344T>C | CA405694067 | RYR1 | c.1957+768T>C c.3374T>C c.3346T>C n.434T>C c.15041T>C (p.Met5014Thr) c.15026T>C (p.Met5009Thr) c.15023T>C (p.Met5008Thr) c.15008T>C (p.Met5003Thr) c.15038T>C (p.Met5013Thr) c.14954T>C (p.Met4985Thr) | |
| 19 | g.38587344T>G | CA405694069 | RYR1 | c.1957+768T>G c.3374T>G c.3346T>G n.434T>G c.15041T>G (p.Met5014Arg) c.15026T>G (p.Met5009Arg) c.15023T>G (p.Met5008Arg) c.15008T>G (p.Met5003Arg) c.15038T>G (p.Met5013Arg) c.14954T>G (p.Met4985Arg) | ClinVar dbSNP |
| 19 | g.38587345G>A | CA081428 | RYR1 | c.1957+769G>A c.3375G>A c.3347G>A n.435G>A c.15042G>A (p.Met5014Ile) c.15027G>A (p.Met5009Ile) c.15024G>A (p.Met5008Ile) c.15009G>A (p.Met5003Ile) c.15039G>A (p.Met5013Ile) c.14955G>A (p.Met4985Ile) | |
| 19 | g.38587345G>C | CA405694075 | RYR1 | c.1957+769G>C c.3375G>C c.3347G>C n.435G>C c.15042G>C (p.Met5014Ile) c.15027G>C (p.Met5009Ile) c.15024G>C (p.Met5008Ile) c.15009G>C (p.Met5003Ile) c.15039G>C (p.Met5013Ile) c.14955G>C (p.Met4985Ile) | |
| 19 | g.38587345G>T | CA405694073 | RYR1 | c.1957+769G>T c.3375G>T c.3347G>T n.435G>T c.15042G>T (p.Met5014Ile) c.15027G>T (p.Met5009Ile) c.15024G>T (p.Met5008Ile) c.15009G>T (p.Met5003Ile) c.15039G>T (p.Met5013Ile) c.14955G>T (p.Met4985Ile) | |
| 19 | g.38587346T>A | CA405694080 | RYR1 | c.1957+770T>A c.3376T>A c.3348T>A n.436T>A c.15043T>A (p.Tyr5015Asn) c.15028T>A (p.Tyr5010Asn) c.15025T>A (p.Tyr5009Asn) c.15010T>A (p.Tyr5004Asn) c.15040T>A (p.Tyr5014Asn) c.14956T>A (p.Tyr4986Asn) | |
| 19 | g.38587346T>C | CA405694085 | RYR1 | c.1957+770T>C c.3376T>C c.3348T>C n.436T>C c.15043T>C (p.Tyr5015His) c.15028T>C (p.Tyr5010His) c.15025T>C (p.Tyr5009His) c.15010T>C (p.Tyr5004His) c.15040T>C (p.Tyr5014His) c.14956T>C (p.Tyr4986His) | |
| 19 | g.38587346T>G | CA405694083 | RYR1 | c.1957+770T>G c.3376T>G c.3348T>G n.436T>G c.15043T>G (p.Tyr5015Asp) c.15028T>G (p.Tyr5010Asp) c.15025T>G (p.Tyr5009Asp) c.15010T>G (p.Tyr5004Asp) c.15040T>G (p.Tyr5014Asp) c.14956T>G (p.Tyr4986Asp) |