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.38580115A>C | CA405687420 | RYR1 | c.1434A>C c.2831A>C c.2803A>C c.14498A>C (p.His4833Pro) c.14483A>C (p.His4828Pro) c.14480A>C (p.His4827Pro) c.14465A>C (p.His4822Pro) c.14495A>C (p.His4832Pro) c.14411A>C (p.His4804Pro) | |
19 | g.38580115A>G | CA405687419 | RYR1 | c.1434A>G c.2831A>G c.2803A>G c.14498A>G (p.His4833Arg) c.14483A>G (p.His4828Arg) c.14480A>G (p.His4827Arg) c.14465A>G (p.His4822Arg) c.14495A>G (p.His4832Arg) c.14411A>G (p.His4804Arg) | |
19 | g.38580115A>T | CA405687417 | RYR1 | c.1434A>T c.2831A>T c.2803A>T c.14498A>T (p.His4833Leu) c.14483A>T (p.His4828Leu) c.14480A>T (p.His4827Leu) c.14465A>T (p.His4822Leu) c.14495A>T (p.His4832Leu) c.14411A>T (p.His4804Leu) | |
19 | g.38580116C>A | CA405687422 | RYR1 | c.1435C>A c.2832C>A c.2804C>A c.14499C>A (p.His4833Gln) c.14484C>A (p.His4828Gln) c.14481C>A (p.His4827Gln) c.14466C>A (p.His4822Gln) c.14496C>A (p.His4832Gln) c.14412C>A (p.His4804Gln) | |
19 | g.38580116C>G | CA405687424 | RYR1 | c.1435C>G c.2832C>G c.2804C>G c.14499C>G (p.His4833Gln) c.14484C>G (p.His4828Gln) c.14481C>G (p.His4827Gln) c.14466C>G (p.His4822Gln) c.14496C>G (p.His4832Gln) c.14412C>G (p.His4804Gln) | |
19 | g.38580116C>T | CA081236 | RYR1 | c.1435C>T c.2832C>T c.2804C>T c.14499C>T (p.His4833=) c.14484C>T (p.His4828=) c.14481C>T (p.His4827=) c.14466C>T (p.His4822=) c.14496C>T (p.His4832=) c.14412C>T (p.His4804=) | |
19 | g.38580117A>C | CA405687425 | RYR1 | c.1436A>C c.2833A>C c.2805A>C c.14500A>C (p.Asn4834His) c.14485A>C (p.Asn4829His) c.14482A>C (p.Asn4828His) c.14467A>C (p.Asn4823His) c.14497A>C (p.Asn4833His) c.14413A>C (p.Asn4805His) | |
19 | g.38580117A>G | CA405687426 | RYR1 | c.1436A>G c.2833A>G c.2805A>G c.14500A>G (p.Asn4834Asp) c.14485A>G (p.Asn4829Asp) c.14482A>G (p.Asn4828Asp) c.14467A>G (p.Asn4823Asp) c.14497A>G (p.Asn4833Asp) c.14413A>G (p.Asn4805Asp) | |
19 | g.38580117A>T | CA405687428 | RYR1 | c.1436A>T c.2833A>T c.2805A>T c.14500A>T (p.Asn4834Tyr) c.14485A>T (p.Asn4829Tyr) c.14482A>T (p.Asn4828Tyr) c.14467A>T (p.Asn4823Tyr) c.14497A>T (p.Asn4833Tyr) c.14413A>T (p.Asn4805Tyr) | |
19 | g.38580118A>C | CA405687431 | RYR1 | c.1437A>C c.2834A>C c.2806A>C c.14501A>C (p.Asn4834Thr) c.14486A>C (p.Asn4829Thr) c.14483A>C (p.Asn4828Thr) c.14468A>C (p.Asn4823Thr) c.14498A>C (p.Asn4833Thr) c.14414A>C (p.Asn4805Thr) | |
19 | g.38580118A>G | CA405687432 | RYR1 | c.1437A>G c.2834A>G c.2806A>G c.14501A>G (p.Asn4834Ser) c.14486A>G (p.Asn4829Ser) c.14483A>G (p.Asn4828Ser) c.14468A>G (p.Asn4823Ser) c.14498A>G (p.Asn4833Ser) c.14414A>G (p.Asn4805Ser) | |
19 | g.38580118A>T | CA405687434 | RYR1 | c.1437A>T c.2834A>T c.2806A>T c.14501A>T (p.Asn4834Ile) c.14486A>T (p.Asn4829Ile) c.14483A>T (p.Asn4828Ile) c.14468A>T (p.Asn4823Ile) c.14498A>T (p.Asn4833Ile) c.14414A>T (p.Asn4805Ile) | |
19 | g.38580119T>A | CA405687435 | RYR1 | c.1438T>A c.2835T>A c.2807T>A c.14502T>A (p.Asn4834Lys) c.14487T>A (p.Asn4829Lys) c.14484T>A (p.Asn4828Lys) c.14469T>A (p.Asn4823Lys) c.14499T>A (p.Asn4833Lys) c.14415T>A (p.Asn4805Lys) | |
19 | g.38580119T>C | CA507356104 | RYR1 | c.1438T>C c.2835T>C c.2807T>C c.14502T>C (p.Asn4834=) c.14487T>C (p.Asn4829=) c.14484T>C (p.Asn4828=) c.14469T>C (p.Asn4823=) c.14499T>C (p.Asn4833=) c.14415T>C (p.Asn4805=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38580119T>G | CA405687436 | RYR1 | c.1438T>G c.2835T>G c.2807T>G c.14502T>G (p.Asn4834Lys) c.14487T>G (p.Asn4829Lys) c.14484T>G (p.Asn4828Lys) c.14469T>G (p.Asn4823Lys) c.14499T>G (p.Asn4833Lys) c.14415T>G (p.Asn4805Lys) | |
19 | g.38580119T= | CA2335092309 | RYR1 | c.1438T= c.2835T= c.2807T= c.14502T= (p.Asn4834=) c.14487T= (p.Asn4829=) c.14484T= (p.Asn4828=) c.14469T= (p.Asn4823=) c.14499T= (p.Asn4833=) c.14415T= (p.Asn4805=) | |
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) |