Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38580105_38580134dup | CA061321 | RYR1 | c.1424_1447+6dup c.2821_2844+6dup c.2793_2816+6dup c.14488_14511+6dup c.14473_14496+6dup c.14470_14493+6dup c.14455_14478+6dup c.14485_14508+6dup c.14401_14424+6dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38580120G>A | CA405687437 | RYR1 | c.1439G>A c.2836G>A c.2808G>A c.14503G>A (p.Gly4835Arg) c.14488G>A (p.Gly4830Arg) c.14485G>A (p.Gly4829Arg) c.14470G>A (p.Gly4824Arg) c.14500G>A (p.Gly4834Arg) c.14416G>A (p.Gly4806Arg) | |
19 | g.38580120G>C | CA405687439 | RYR1 | c.1439G>C c.2836G>C c.2808G>C c.14503G>C (p.Gly4835Arg) c.14488G>C (p.Gly4830Arg) c.14485G>C (p.Gly4829Arg) c.14470G>C (p.Gly4824Arg) c.14500G>C (p.Gly4834Arg) c.14416G>C (p.Gly4806Arg) | |
19 | g.38580120G>T | CA405687441 | RYR1 | c.1439G>T c.2836G>T c.2808G>T c.14503G>T (p.Gly4835Trp) c.14488G>T (p.Gly4830Trp) c.14485G>T (p.Gly4829Trp) c.14470G>T (p.Gly4824Trp) c.14500G>T (p.Gly4834Trp) c.14416G>T (p.Gly4806Trp) | |
19 | g.38580121G>A | CA405687447 | RYR1 | c.1440G>A c.2837G>A c.2809G>A c.14504G>A (p.Gly4835Glu) c.14489G>A (p.Gly4830Glu) c.14486G>A (p.Gly4829Glu) c.14471G>A (p.Gly4824Glu) c.14501G>A (p.Gly4834Glu) c.14417G>A (p.Gly4806Glu) | |
19 | g.38580121G>C | CA405687443 | RYR1 | c.1440G>C c.2837G>C c.2809G>C c.14504G>C (p.Gly4835Ala) c.14489G>C (p.Gly4830Ala) c.14486G>C (p.Gly4829Ala) c.14471G>C (p.Gly4824Ala) c.14501G>C (p.Gly4834Ala) c.14417G>C (p.Gly4806Ala) | |
19 | g.38580121G>T | CA405687445 | RYR1 | c.1440G>T c.2837G>T c.2809G>T c.14504G>T (p.Gly4835Val) c.14489G>T (p.Gly4830Val) c.14486G>T (p.Gly4829Val) c.14471G>T (p.Gly4824Val) c.14501G>T (p.Gly4834Val) c.14417G>T (p.Gly4806Val) | |
19 | g.38580122G>A | CA024159 | RYR1 | c.1441G>A c.2838G>A c.2810G>A c.14505G>A (p.Gly4835=) c.14490G>A (p.Gly4830=) c.14487G>A (p.Gly4829=) c.14472G>A (p.Gly4824=) c.14502G>A (p.Gly4834=) c.14418G>A (p.Gly4806=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38580122G>C | CA507356107 | RYR1 | c.1441G>C c.2838G>C c.2810G>C c.14505G>C (p.Gly4835=) c.14490G>C (p.Gly4830=) c.14487G>C (p.Gly4829=) c.14472G>C (p.Gly4824=) c.14502G>C (p.Gly4834=) c.14418G>C (p.Gly4806=) | gnomAD v4 |
19 | g.38580122G= | CA2335092310 | RYR1 | c.1441G= c.2838G= c.2810G= c.14505G= (p.Gly4835=) c.14490G= (p.Gly4830=) c.14487G= (p.Gly4829=) c.14472G= (p.Gly4824=) c.14502G= (p.Gly4834=) c.14418G= (p.Gly4806=) | |
19 | g.38580122G>T | CA507356108 | RYR1 | c.1441G>T c.2838G>T c.2810G>T c.14505G>T (p.Gly4835=) c.14490G>T (p.Gly4830=) c.14487G>T (p.Gly4829=) c.14472G>T (p.Gly4824=) c.14502G>T (p.Gly4834=) c.14418G>T (p.Gly4806=) | |
19 | g.38580123A>C | CA405687451 | RYR1 | c.1442A>C c.2839A>C c.2811A>C c.14506A>C (p.Lys4836Gln) c.14491A>C (p.Lys4831Gln) c.14488A>C (p.Lys4830Gln) c.14473A>C (p.Lys4825Gln) c.14503A>C (p.Lys4835Gln) c.14419A>C (p.Lys4807Gln) | |
19 | g.38580123A>G | CA405687452 | RYR1 | c.1442A>G c.2839A>G c.2811A>G c.14506A>G (p.Lys4836Glu) c.14491A>G (p.Lys4831Glu) c.14488A>G (p.Lys4830Glu) c.14473A>G (p.Lys4825Glu) c.14503A>G (p.Lys4835Glu) c.14419A>G (p.Lys4807Glu) | |
19 | g.38580123A>T | CA405687454 | RYR1 | c.1442A>T c.2839A>T c.2811A>T c.14506A>T (p.Lys4836Ter) c.14491A>T (p.Lys4831Ter) c.14488A>T (p.Lys4830Ter) c.14473A>T (p.Lys4825Ter) c.14503A>T (p.Lys4835Ter) c.14419A>T (p.Lys4807Ter) | |
19 | g.38580124A>C | CA405687456 | RYR1 | c.1443A>C c.2840A>C c.2812A>C c.14507A>C (p.Lys4836Thr) c.14492A>C (p.Lys4831Thr) c.14489A>C (p.Lys4830Thr) c.14474A>C (p.Lys4825Thr) c.14504A>C (p.Lys4835Thr) c.14420A>C (p.Lys4807Thr) | |
19 | g.38580124A>G | CA405687457 | RYR1 | c.1443A>G c.2840A>G c.2812A>G c.14507A>G (p.Lys4836Arg) c.14492A>G (p.Lys4831Arg) c.14489A>G (p.Lys4830Arg) c.14474A>G (p.Lys4825Arg) c.14504A>G (p.Lys4835Arg) c.14420A>G (p.Lys4807Arg) | |
19 | g.38580124A>T | CA405687458 | RYR1 | c.1443A>T c.2840A>T c.2812A>T c.14507A>T (p.Lys4836Ile) c.14492A>T (p.Lys4831Ile) c.14489A>T (p.Lys4830Ile) c.14474A>T (p.Lys4825Ile) c.14504A>T (p.Lys4835Ile) c.14420A>T (p.Lys4807Ile) | |
19 | g.38580125A= | CA2335092311 | RYR1 | c.1444A= c.2841A= c.2813A= c.14508A= (p.Lys4836=) c.14493A= (p.Lys4831=) c.14490A= (p.Lys4830=) c.14475A= (p.Lys4825=) c.14505A= (p.Lys4835=) c.14421A= (p.Lys4807=) | |
19 | g.38580125A>C | CA405687460 | RYR1 | c.1444A>C c.2841A>C c.2813A>C c.14508A>C (p.Lys4836Asn) c.14493A>C (p.Lys4831Asn) c.14490A>C (p.Lys4830Asn) c.14475A>C (p.Lys4825Asn) c.14505A>C (p.Lys4835Asn) c.14421A>C (p.Lys4807Asn) | |
19 | g.38580125A>G | CA507356112 | RYR1 | c.1444A>G c.2841A>G c.2813A>G c.14508A>G (p.Lys4836=) c.14493A>G (p.Lys4831=) c.14490A>G (p.Lys4830=) c.14475A>G (p.Lys4825=) c.14505A>G (p.Lys4835=) c.14421A>G (p.Lys4807=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38580125A>T | CA405687461 | RYR1 | c.1444A>T c.2841A>T c.2813A>T c.14508A>T (p.Lys4836Asn) c.14493A>T (p.Lys4831Asn) c.14490A>T (p.Lys4830Asn) c.14475A>T (p.Lys4825Asn) c.14505A>T (p.Lys4835Asn) c.14421A>T (p.Lys4807Asn) | |
19 | g.38580126C>A | CA405687464 | RYR1 | c.1445C>A c.2842C>A c.2814C>A c.14509C>A (p.Gln4837Lys) c.14494C>A (p.Gln4832Lys) c.14491C>A (p.Gln4831Lys) c.14476C>A (p.Gln4826Lys) c.14506C>A (p.Gln4836Lys) c.14422C>A (p.Gln4808Lys) | ClinVar dbSNP |
19 | g.38580126C= | CA2335092313 | RYR1 | c.1445C= c.2842C= c.2814C= c.14509C= (p.Gln4837=) c.14494C= (p.Gln4832=) c.14491C= (p.Gln4831=) c.14476C= (p.Gln4826=) c.14506C= (p.Gln4836=) c.14422C= (p.Gln4808=) | |
19 | g.38580126C>G | CA405687465 | RYR1 | c.1445C>G c.2842C>G c.2814C>G c.14509C>G (p.Gln4837Glu) c.14494C>G (p.Gln4832Glu) c.14491C>G (p.Gln4831Glu) c.14476C>G (p.Gln4826Glu) c.14506C>G (p.Gln4836Glu) c.14422C>G (p.Gln4808Glu) | ClinVar dbSNP |
19 | g.38580126C>T | CA405687467 | RYR1 | c.1445C>T c.2842C>T c.2814C>T c.14509C>T (p.Gln4837Ter) c.14494C>T (p.Gln4832Ter) c.14491C>T (p.Gln4831Ter) c.14476C>T (p.Gln4826Ter) c.14506C>T (p.Gln4836Ter) c.14422C>T (p.Gln4808Ter) | |
19 | g.38580126_38580127delinsCA | CA2335092312 | RYR1 | c.1445_1446delinsCA c.2842_2843delinsCA c.2814_2815delinsCA c.14509_14510delinsCA (p.Gln4837=) c.14494_14495delinsCA (p.Gln4832=) c.14491_14492delinsCA (p.Gln4831=) c.14476_14477delinsCA (p.Gln4826=) c.14506_14507delinsCA (p.Gln4836=) c.14422_14423delinsCA (p.Gln4808=) | |
19 | g.38580127del | CA024161 | RYR1 | c.1446del c.2843del c.2815del c.14510del (p.Gln4837ArgfsTer3) c.14495del (p.Gln4832ArgfsTer3) c.14492del (p.Gln4831ArgfsTer3) c.14477del (p.Gln4826ArgfsTer3) c.14507del (p.Gln4836ArgfsTer3) c.14423del (p.Gln4808ArgfsTer3) | ClinVar dbSNP |
19 | g.38580127A>C | CA405687474 | RYR1 | c.1446A>C c.2843A>C c.2815A>C c.14510A>C (p.Gln4837Pro) c.14495A>C (p.Gln4832Pro) c.14492A>C (p.Gln4831Pro) c.14477A>C (p.Gln4826Pro) c.14507A>C (p.Gln4836Pro) c.14423A>C (p.Gln4808Pro) | |
19 | g.38580127A>G | CA405687476 | RYR1 | c.1446A>G c.2843A>G c.2815A>G c.14510A>G (p.Gln4837Arg) c.14495A>G (p.Gln4832Arg) c.14492A>G (p.Gln4831Arg) c.14477A>G (p.Gln4826Arg) c.14507A>G (p.Gln4836Arg) c.14423A>G (p.Gln4808Arg) | |
19 | g.38580127A>T | CA405687472 | RYR1 | c.1446A>T c.2843A>T c.2815A>T c.14510A>T (p.Gln4837Leu) c.14495A>T (p.Gln4832Leu) c.14492A>T (p.Gln4831Leu) c.14477A>T (p.Gln4826Leu) c.14507A>T (p.Gln4836Leu) c.14423A>T (p.Gln4808Leu) | |
19 | g.38580128G>A | CA507356119 | RYR1 | c.1447G>A c.2844G>A c.2816G>A c.14511G>A (p.Gln4837=) c.14496G>A (p.Gln4832=) c.14493G>A (p.Gln4831=) c.14478G>A (p.Gln4826=) c.14508G>A (p.Gln4836=) c.14424G>A (p.Gln4808=) | |
19 | g.38580128G>C | CA405687481 | RYR1 | c.1447G>C c.2844G>C c.2816G>C c.14511G>C (p.Gln4837His) c.14496G>C (p.Gln4832His) c.14493G>C (p.Gln4831His) c.14478G>C (p.Gln4826His) c.14508G>C (p.Gln4836His) c.14424G>C (p.Gln4808His) | |
19 | g.38580128G>T | CA405687478 | RYR1 | c.1447G>T c.2844G>T c.2816G>T c.14511G>T (p.Gln4837His) c.14496G>T (p.Gln4832His) c.14493G>T (p.Gln4831His) c.14478G>T (p.Gln4826His) c.14508G>T (p.Gln4836His) c.14424G>T (p.Gln4808His) | |
19 | g.38580129G>A | CA405687486 | RYR1 | c.1447+1G>A c.2844+1G>A c.2816+1G>A c.14511+1G>A (n.14511+1G>A) c.14496+1G>A (n.14496+1G>A) c.14493+1G>A (n.14493+1G>A) c.14478+1G>A (n.14478+1G>A) c.14508+1G>A (n.14508+1G>A) c.14424+1G>A (n.14424+1G>A) | |
19 | g.38580129G>C | CA405687483 | RYR1 | c.1447+1G>C c.2844+1G>C c.2816+1G>C c.14511+1G>C (n.14511+1G>C) c.14496+1G>C (n.14496+1G>C) c.14493+1G>C (n.14493+1G>C) c.14478+1G>C (n.14478+1G>C) c.14508+1G>C (n.14508+1G>C) c.14424+1G>C (n.14424+1G>C) | |
19 | g.38580129G>T | CA405687485 | RYR1 | c.1447+1G>T c.2844+1G>T c.2816+1G>T c.14511+1G>T (n.14511+1G>T) c.14496+1G>T (n.14496+1G>T) c.14493+1G>T (n.14493+1G>T) c.14478+1G>T (n.14478+1G>T) c.14508+1G>T (n.14508+1G>T) c.14424+1G>T (n.14424+1G>T) | |
19 | g.38580132_38580133del | CA2584911010 | RYR1 | c.1447+4_1447+5del c.2844+4_2844+5del c.2816+4_2816+5del c.14511+4_14511+5del (n.14511+4_14511+5del) c.14496+4_14496+5del (n.14496+4_14496+5del) c.14493+4_14493+5del (n.14493+4_14493+5del) c.14478+4_14478+5del (n.14478+4_14478+5del) c.14508+4_14508+5del (n.14508+4_14508+5del) c.14424+4_14424+5del (n.14424+4_14424+5del) | gnomAD v4 |
19 | g.38580130T>A | CA405687488 | RYR1 | c.1447+2T>A c.2844+2T>A c.2816+2T>A c.14511+2T>A (n.14511+2T>A) c.14496+2T>A (n.14496+2T>A) c.14493+2T>A (n.14493+2T>A) c.14478+2T>A (n.14478+2T>A) c.14508+2T>A (n.14508+2T>A) c.14424+2T>A (n.14424+2T>A) | |
19 | g.38580130T>C | CA405687490 | RYR1 | c.1447+2T>C c.2844+2T>C c.2816+2T>C c.14511+2T>C (n.14511+2T>C) c.14496+2T>C (n.14496+2T>C) c.14493+2T>C (n.14493+2T>C) c.14478+2T>C (n.14478+2T>C) c.14508+2T>C (n.14508+2T>C) c.14424+2T>C (n.14424+2T>C) | |
19 | g.38580130T>G | CA405687492 | RYR1 | c.1447+2T>G c.2844+2T>G c.2816+2T>G c.14511+2T>G (n.14511+2T>G) c.14496+2T>G (n.14496+2T>G) c.14493+2T>G (n.14493+2T>G) c.14478+2T>G (n.14478+2T>G) c.14508+2T>G (n.14508+2T>G) c.14424+2T>G (n.14424+2T>G) | |
19 | g.38580131G>A | CA061343 | RYR1 | c.1447+3G>A c.2844+3G>A c.2816+3G>A c.14511+3G>A (n.14511+3G>A) c.14496+3G>A (n.14496+3G>A) c.14493+3G>A (n.14493+3G>A) c.14478+3G>A (n.14478+3G>A) c.14508+3G>A (n.14508+3G>A) c.14424+3G>A (n.14424+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38580131G= | CA2335092314 | RYR1 | c.1447+3G= c.2844+3G= c.2816+3G= c.14511+3G= (n.14511+3G=) c.14496+3G= (n.14496+3G=) c.14493+3G= (n.14493+3G=) c.14478+3G= (n.14478+3G=) c.14508+3G= (n.14508+3G=) c.14424+3G= (n.14424+3G=) | |
19 | g.38580133G= | CA2335092315 | RYR1 | c.1447+5G= c.2844+5G= c.2816+5G= c.14511+5G= (n.14511+5G=) c.14496+5G= (n.14496+5G=) c.14493+5G= (n.14493+5G=) c.14478+5G= (n.14478+5G=) c.14508+5G= (n.14508+5G=) c.14424+5G= (n.14424+5G=) | |
19 | g.38580133G>T | CA061352 | RYR1 | c.1447+5G>T c.2844+5G>T c.2816+5G>T c.14511+5G>T (n.14511+5G>T) c.14496+5G>T (n.14496+5G>T) c.14493+5G>T (n.14493+5G>T) c.14478+5G>T (n.14478+5G>T) c.14508+5G>T (n.14508+5G>T) c.14424+5G>T (n.14424+5G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38580136G>A | CA308121711 | RYR1 | c.1447+8G>A c.2844+8G>A c.2816+8G>A c.14511+8G>A (n.14511+8G>A) c.14496+8G>A (n.14496+8G>A) c.14493+8G>A (n.14493+8G>A) c.14478+8G>A (n.14478+8G>A) c.14508+8G>A (n.14508+8G>A) c.14424+8G>A (n.14424+8G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38580136G= | CA2335092316 | RYR1 | c.1447+8G= c.2844+8G= c.2816+8G= c.14511+8G= (n.14511+8G=) c.14496+8G= (n.14496+8G=) c.14493+8G= (n.14493+8G=) c.14478+8G= (n.14478+8G=) c.14508+8G= (n.14508+8G=) c.14424+8G= (n.14424+8G=) | |
19 | g.38580137A>T | CA2697556515 | RYR1 | c.1447+9A>T c.2844+9A>T c.2816+9A>T c.14511+9A>T (n.14511+9A>T) c.14496+9A>T (n.14496+9A>T) c.14493+9A>T (n.14493+9A>T) c.14478+9A>T (n.14478+9A>T) c.14508+9A>T (n.14508+9A>T) c.14424+9A>T (n.14424+9A>T) | ClinVar |
19 | g.38580138G>A | CA2584911012 | RYR1 | c.1447+10G>A c.2844+10G>A c.2816+10G>A c.14511+10G>A (n.14511+10G>A) c.14496+10G>A (n.14496+10G>A) c.14493+10G>A (n.14493+10G>A) c.14478+10G>A (n.14478+10G>A) c.14508+10G>A (n.14508+10G>A) c.14424+10G>A (n.14424+10G>A) | gnomAD v4 |
19 | g.38580138G>C | CA061334 | RYR1 | c.1447+10G>C c.2844+10G>C c.2816+10G>C c.14511+10G>C (n.14511+10G>C) c.14496+10G>C (n.14496+10G>C) c.14493+10G>C (n.14493+10G>C) c.14478+10G>C (n.14478+10G>C) c.14508+10G>C (n.14508+10G>C) c.14424+10G>C (n.14424+10G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38580138G= | CA2335092317 | RYR1 | c.1447+10G= c.2844+10G= c.2816+10G= c.14511+10G= (n.14511+10G=) c.14496+10G= (n.14496+10G=) c.14493+10G= (n.14493+10G=) c.14478+10G= (n.14478+10G=) c.14508+10G= (n.14508+10G=) c.14424+10G= (n.14424+10G=) |