Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38500798_38500801del | CA2584900540 | RYR1 | c.7445-23_7445-20del (n.7445-23_7445-20del) c.7442-23_7442-20del (n.7442-23_7442-20del) c.897-23_897-20del n.7528-23_7528-20del | gnomAD v4 |
19 | g.38500798_38500800del | CA2573320719 | RYR1 | c.7445-23_7445-21del (n.7445-23_7445-21del) c.7442-23_7442-21del (n.7442-23_7442-21del) c.897-23_897-21del n.7528-23_7528-21del | gnomAD v4 |
19 | g.38500799A= | CA2335053436 | RYR1 | c.7445-22A= (n.7445-22A=) c.7442-22A= (n.7442-22A=) c.897-22A= n.7528-22A= | |
19 | g.38500799A>C | CA995716198 | RYR1 | c.7445-22A>C (n.7445-22A>C) c.7442-22A>C (n.7442-22A>C) c.897-22A>C n.7528-22A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500800A= | CA2335053437 | RYR1 | c.7445-21A= (n.7445-21A=) c.7442-21A= (n.7442-21A=) c.897-21A= n.7528-21A= | |
19 | g.38500800A>G | CA069665 | RYR1 | c.7445-21A>G (n.7445-21A>G) c.7442-21A>G (n.7442-21A>G) c.897-21A>G n.7528-21A>G | dbSNP ExAC gnomAD v2 |
19 | g.38500801C>A | CA995716199 | RYR1 | c.7445-20C>A (n.7445-20C>A) c.7442-20C>A (n.7442-20C>A) c.897-20C>A n.7528-20C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500801C= | CA2335053438 | RYR1 | c.7445-20C= (n.7445-20C=) c.7442-20C= (n.7442-20C=) c.897-20C= n.7528-20C= | |
19 | g.38500803_38500804insCCCC | CA2584900542 | RYR1 | c.7445-18_7445-17insCCCC (n.7445-18_7445-17insCCCC) c.7442-18_7442-17insCCCC (n.7442-18_7442-17insCCCC) c.897-18_897-17insCCCC n.7528-18_7528-17insCCCC | gnomAD v4 |
19 | g.38500807_38500808insACCCAGCCAGCAACCACCC | CA2584900543 | RYR1 | c.7445-14_7445-13insACCCAGCCAGCAACCACCC (n.7445-14_7445-13insACCCAGCCAGCAACCACCC) c.7442-14_7442-13insACCCAGCCAGCAACCACCC (n.7442-14_7442-13insACCCAGCCAGCAACCACCC) c.897-14_897-13insACCCAGCCAGCAACCACCC n.7528-14_7528-13insACCCAGCCAGCAACCACCC | gnomAD v4 |
19 | g.38500803C>A | CA2584900544 | RYR1 | c.7445-18C>A (n.7445-18C>A) c.7442-18C>A (n.7442-18C>A) c.897-18C>A n.7528-18C>A | gnomAD v4 |
19 | g.38500803C= | CA2335053439 | RYR1 | c.7445-18C= (n.7445-18C=) c.7442-18C= (n.7442-18C=) c.897-18C= n.7528-18C= | |
19 | g.38500803C>T | CA633066128 | RYR1 | c.7445-18C>T (n.7445-18C>T) c.7442-18C>T (n.7442-18C>T) c.897-18C>T n.7528-18C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500804del | CA2584900545 | RYR1 | c.7445-17del (n.7445-17del) c.7442-17del (n.7442-17del) c.897-17del n.7528-17del | gnomAD v4 |
19 | g.38500804A= | CA2335053440 | RYR1 | c.7445-17A= (n.7445-17A=) c.7442-17A= (n.7442-17A=) c.897-17A= n.7528-17A= | |
19 | g.38500804A>C | CA995716203 | RYR1 | c.7445-17A>C (n.7445-17A>C) c.7442-17A>C (n.7442-17A>C) c.897-17A>C n.7528-17A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500805C= | CA2335053441 | RYR1 | c.7445-16C= (n.7445-16C=) c.7442-16C= (n.7442-16C=) c.897-16C= n.7528-16C= | |
19 | g.38500805C>T | CA308110596 | RYR1 | c.7445-16C>T (n.7445-16C>T) c.7442-16C>T (n.7442-16C>T) c.897-16C>T n.7528-16C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38500806C>A | CA2584900546 | RYR1 | c.7445-15C>A (n.7445-15C>A) c.7442-15C>A (n.7442-15C>A) c.897-15C>A n.7528-15C>A | gnomAD v4 |
19 | g.38500806C>T | CA2576770884 | RYR1 | c.7445-15C>T (n.7445-15C>T) c.7442-15C>T (n.7442-15C>T) c.897-15C>T n.7528-15C>T | ClinVar gnomAD v4 |
19 | g.38500807C>A | CA2335053443 | RYR1 | c.7445-14C>A (n.7445-14C>A) c.7442-14C>A (n.7442-14C>A) c.897-14C>A n.7528-14C>A | dbSNP gnomAD v4 |
19 | g.38500807C= | CA2335053442 | RYR1 | c.7445-14C= (n.7445-14C=) c.7442-14C= (n.7442-14C=) c.897-14C= n.7528-14C= | |
19 | g.38500808T>A | CA995716205 | RYR1 | c.7445-13T>A (n.7445-13T>A) c.7442-13T>A (n.7442-13T>A) c.897-13T>A n.7528-13T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500808T>C | CA2335053445 | RYR1 | c.7445-13T>C (n.7445-13T>C) c.7442-13T>C (n.7442-13T>C) c.897-13T>C n.7528-13T>C | dbSNP gnomAD v4 |
19 | g.38500808T>G | CA2584900547 | RYR1 | c.7445-13T>G (n.7445-13T>G) c.7442-13T>G (n.7442-13T>G) c.897-13T>G n.7528-13T>G | gnomAD v4 |
19 | g.38500808T= | CA2335053444 | RYR1 | c.7445-13T= (n.7445-13T=) c.7442-13T= (n.7442-13T=) c.897-13T= n.7528-13T= | |
19 | g.38500809C>A | CA2335053446 | RYR1 | c.7445-12C>A (n.7445-12C>A) c.7442-12C>A (n.7442-12C>A) c.897-12C>A n.7528-12C>A | dbSNP gnomAD v4 |
19 | g.38500809C= | CA2335053447 | RYR1 | c.7445-12C= (n.7445-12C=) c.7442-12C= (n.7442-12C=) c.897-12C= n.7528-12C= | |
19 | g.38500809C>G | CA995716210 | RYR1 | c.7445-12C>G (n.7445-12C>G) c.7442-12C>G (n.7442-12C>G) c.897-12C>G n.7528-12C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500809C>T | CA633066129 | RYR1 | c.7445-12C>T (n.7445-12C>T) c.7442-12C>T (n.7442-12C>T) c.897-12C>T n.7528-12C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500810C= | CA2335053448 | RYR1 | c.7445-11C= (n.7445-11C=) c.7442-11C= (n.7442-11C=) c.897-11C= n.7528-11C= | |
19 | g.38500810C>T | CA633066130 | RYR1 | c.7445-11C>T (n.7445-11C>T) c.7442-11C>T (n.7442-11C>T) c.897-11C>T n.7528-11C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500811_38500812insAACC | CA2814346340 | RYR1 | c.7445-10_7445-9insAACC (n.7445-10_7445-9insAACC) c.7442-10_7442-9insAACC (n.7442-10_7442-9insAACC) c.897-10_897-9insAACC n.7528-10_7528-9insAACC | |
19 | g.38500811C>G | CA2576770885 | RYR1 | c.7445-10C>G (n.7445-10C>G) c.7442-10C>G (n.7442-10C>G) c.897-10C>G n.7528-10C>G | gnomAD v4 |
19 | g.38500812T>A | CA995716217 | RYR1 | c.7445-9T>A (n.7445-9T>A) c.7442-9T>A (n.7442-9T>A) c.897-9T>A n.7528-9T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500812T>C | CA995716220 | RYR1 | c.7445-9T>C (n.7445-9T>C) c.7442-9T>C (n.7442-9T>C) c.897-9T>C n.7528-9T>C | gnomAD v3 gnomAD v4 |
19 | g.38500812T>G | CA2584900548 | RYR1 | c.7445-9T>G (n.7445-9T>G) c.7442-9T>G (n.7442-9T>G) c.897-9T>G n.7528-9T>G | gnomAD v4 |
19 | g.38500812T= | CA2335053449 | RYR1 | c.7445-9T= (n.7445-9T=) c.7442-9T= (n.7442-9T=) c.897-9T= n.7528-9T= | |
19 | g.38500813G>C | CA633066131 | RYR1 | c.7445-8G>C (n.7445-8G>C) c.7442-8G>C (n.7442-8G>C) c.897-8G>C n.7528-8G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500813G= | CA2335053450 | RYR1 | c.7445-8G= (n.7445-8G=) c.7442-8G= (n.7442-8G=) c.897-8G= n.7528-8G= | |
19 | g.38500813G>T | CA2584900549 | RYR1 | c.7445-8G>T (n.7445-8G>T) c.7442-8G>T (n.7442-8G>T) c.897-8G>T n.7528-8G>T | gnomAD v4 |
19 | g.38500814C>A | CA2584900550 | RYR1 | c.7445-7C>A (n.7445-7C>A) c.7442-7C>A (n.7442-7C>A) c.897-7C>A n.7528-7C>A | gnomAD v4 |
19 | g.38500814C>G | CA2584900551 | RYR1 | c.7445-7C>G (n.7445-7C>G) c.7442-7C>G (n.7442-7C>G) c.897-7C>G n.7528-7C>G | gnomAD v4 |
19 | g.38500815C= | CA2335053451 | RYR1 | c.7445-6C= (n.7445-6C=) c.7442-6C= (n.7442-6C=) c.897-6C= n.7528-6C= | |
19 | g.38500815C>T | CA069689 | RYR1 | c.7445-6C>T (n.7445-6C>T) c.7442-6C>T (n.7442-6C>T) c.897-6C>T n.7528-6C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500816T>A | CA995716222 | RYR1 | c.7445-5T>A (n.7445-5T>A) c.7442-5T>A (n.7442-5T>A) c.897-5T>A n.7528-5T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500816T>C | CA2584900552 | RYR1 | c.7445-5T>C (n.7445-5T>C) c.7442-5T>C (n.7442-5T>C) c.897-5T>C n.7528-5T>C | dbSNP gnomAD v4 |
19 | g.38500816T>G | CA2584900553 | RYR1 | c.7445-5T>G (n.7445-5T>G) c.7442-5T>G (n.7442-5T>G) c.897-5T>G n.7528-5T>G | ClinVar gnomAD v4 |
19 | g.38500816T= | CA2335053452 | RYR1 | c.7445-5T= (n.7445-5T=) c.7442-5T= (n.7442-5T=) c.897-5T= n.7528-5T= | |
19 | g.38500818C>T | CA082462 | RYR1 | c.7445-3C>T (n.7445-3C>T) c.7442-3C>T (n.7442-3C>T) c.897-3C>T n.7528-3C>T | COSMIC |
19 | g.38500819A>C | CA405670216 | RYR1 | c.7445-2A>C (n.7445-2A>C) c.7442-2A>C (n.7442-2A>C) c.897-2A>C n.7528-2A>C | gnomAD v4 |
19 | g.38500819A>G | CA405670217 | RYR1 | c.7445-2A>G (n.7445-2A>G) c.7442-2A>G (n.7442-2A>G) c.897-2A>G n.7528-2A>G | |
19 | g.38500819A>T | CA405670218 | RYR1 | c.7445-2A>T (n.7445-2A>T) c.7442-2A>T (n.7442-2A>T) c.897-2A>T n.7528-2A>T | |
19 | g.38500820G>A | CA405670219 | RYR1 | c.7445-1G>A (n.7445-1G>A) c.7442-1G>A (n.7442-1G>A) c.897-1G>A n.7528-1G>A | gnomAD v4 COSMIC |
19 | g.38500820G>C | CA405670220 | RYR1 | c.7445-1G>C (n.7445-1G>C) c.7442-1G>C (n.7442-1G>C) c.897-1G>C n.7528-1G>C | gnomAD v3 gnomAD v4 |
19 | g.38500820G>T | CA405670221 | RYR1 | c.7445-1G>T (n.7445-1G>T) c.7442-1G>T (n.7442-1G>T) c.897-1G>T n.7528-1G>T | |
19 | g.38500821A= | CA2335053453 | RYR1 | c.7445A= (p.Asp2482=) c.7442A= (p.Asp2481=) c.897A= n.7528A= | |
19 | g.38500821A>C | CA405670222 | RYR1 | c.7445A>C (p.Asp2482Ala) c.7442A>C (p.Asp2481Ala) c.897A>C n.7528A>C | |
19 | g.38500821A>G | CA069694 | RYR1 | c.7445A>G (p.Asp2482Gly) c.7442A>G (p.Asp2481Gly) c.897A>G n.7528A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500821A>T | CA405670223 | RYR1 | c.7445A>T (p.Asp2482Val) c.7442A>T (p.Asp2481Val) c.897A>T n.7528A>T | gnomAD v4 |
19 | g.38500822T>A | CA405670224 | RYR1 | c.7446T>A (p.Asp2482Glu) c.7443T>A (p.Asp2481Glu) c.898T>A n.7529T>A | gnomAD v4 |
19 | g.38500822T>C | CA069698 | RYR1 | c.7446T>C (p.Asp2482=) c.7443T>C (p.Asp2481=) c.898T>C n.7529T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500822T>G | CA405670225 | RYR1 | c.7446T>G (p.Asp2482Glu) c.7443T>G (p.Asp2481Glu) c.898T>G n.7529T>G | |
19 | g.38500822T= | CA2335053454 | RYR1 | c.7446T= (p.Asp2482=) c.7443T= (p.Asp2481=) c.898T= n.7529T= | |
19 | g.38500823G>A | CA082453 | RYR1 | c.7447G>A (p.Gly2483Arg) c.7444G>A (p.Gly2482Arg) c.899G>A n.7530G>A | |
19 | g.38500823G>C | CA405670226 | RYR1 | c.7447G>C (p.Gly2483Arg) c.7444G>C (p.Gly2482Arg) c.899G>C n.7530G>C | |
19 | g.38500823G>T | CA405670227 | RYR1 | c.7447G>T (p.Gly2483Trp) c.7444G>T (p.Gly2482Trp) c.899G>T n.7530G>T | gnomAD v3 gnomAD v4 |
19 | g.38500824G>A | CA405670228 | RYR1 | c.7448G>A (p.Gly2483Glu) c.7445G>A (p.Gly2482Glu) c.900G>A n.7531G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500824G>C | CA405670229 | RYR1 | c.7448G>C (p.Gly2483Ala) c.7445G>C (p.Gly2482Ala) c.900G>C n.7531G>C | |
19 | g.38500824G= | CA2335053455 | RYR1 | c.7448G= (p.Gly2483=) c.7445G= (p.Gly2482=) c.900G= n.7531G= | |
19 | g.38500824G>T | CA405670230 | RYR1 | c.7448G>T (p.Gly2483Val) c.7445G>T (p.Gly2482Val) c.900G>T n.7531G>T | |
19 | g.38500825G>A | CA507353995 | RYR1 | c.7449G>A (p.Gly2483=) c.7446G>A (p.Gly2482=) c.901G>A n.7532G>A | |
19 | g.38500825G>C | CA507353996 | RYR1 | c.7449G>C (p.Gly2483=) c.7446G>C (p.Gly2482=) c.901G>C n.7532G>C | |
19 | g.38500825G>T | CA507353997 | RYR1 | c.7449G>T (p.Gly2483=) c.7446G>T (p.Gly2482=) c.901G>T n.7532G>T | |
19 | g.38500826G>A | CA405670231 | RYR1 | c.7450G>A (p.Ala2484Thr) c.7447G>A (p.Ala2483Thr) c.902G>A n.7533G>A | dbSNP |
19 | g.38500826G>C | CA405670232 | RYR1 | c.7450G>C (p.Ala2484Pro) c.7447G>C (p.Ala2483Pro) c.902G>C n.7533G>C | |
19 | g.38500826G= | CA2335053456 | RYR1 | c.7450G= (p.Ala2484=) c.7447G= (p.Ala2483=) c.902G= n.7533G= | |
19 | g.38500826G>T | CA405670233 | RYR1 | c.7450G>T (p.Ala2484Ser) c.7447G>T (p.Ala2483Ser) c.902G>T n.7533G>T | ClinVar |
19 | g.38500827C>A | CA405670234 | RYR1 | c.7451C>A (p.Ala2484Asp) c.7448C>A (p.Ala2483Asp) c.903C>A n.7534C>A | |
19 | g.38500827C>G | CA405670235 | RYR1 | c.7451C>G (p.Ala2484Gly) c.7448C>G (p.Ala2483Gly) c.903C>G n.7534C>G | |
19 | g.38500827C>T | CA405670236 | RYR1 | c.7451C>T (p.Ala2484Val) c.7448C>T (p.Ala2483Val) c.903C>T n.7534C>T | ClinVar gnomAD v4 |
19 | g.38500828T>A | CA507353998 | RYR1 | c.7452T>A (p.Ala2484=) c.7449T>A (p.Ala2483=) c.904T>A n.7535T>A | |
19 | g.38500828T>C | CA507353999 | RYR1 | c.7452T>C (p.Ala2484=) c.7449T>C (p.Ala2483=) c.904T>C n.7535T>C | |
19 | g.38500828T>G | CA507354000 | RYR1 | c.7452T>G (p.Ala2484=) c.7449T>G (p.Ala2483=) c.904T>G n.7535T>G | gnomAD v4 |
19 | g.38500829C>A | CA405670237 | RYR1 | c.7453C>A (p.Leu2485Met) c.7450C>A (p.Leu2484Met) c.905C>A n.7536C>A | |
19 | g.38500829C= | CA2335053457 | RYR1 | c.7453C= (p.Leu2485=) c.7450C= (p.Leu2484=) c.905C= n.7536C= | |
19 | g.38500829C>G | CA405670238 | RYR1 | c.7453C>G (p.Leu2485Val) c.7450C>G (p.Leu2484Val) c.905C>G n.7536C>G | |
19 | g.38500829C>T | CA507354001 | RYR1 | c.7453C>T (p.Leu2485=) c.7450C>T (p.Leu2484=) c.905C>T n.7536C>T | dbSNP |
19 | g.38500830T>A | CA405670241 | RYR1 | c.7454T>A (p.Leu2485Gln) c.7451T>A (p.Leu2484Gln) c.906T>A n.7537T>A | |
19 | g.38500830T>C | CA405670240 | RYR1 | c.7454T>C (p.Leu2485Pro) c.7451T>C (p.Leu2484Pro) c.906T>C n.7537T>C | |
19 | g.38500830T>G | CA405670239 | RYR1 | c.7454T>G (p.Leu2485Arg) c.7451T>G (p.Leu2484Arg) c.906T>G n.7537T>G | |
19 | g.38500831G>A | CA507354002 | RYR1 | c.7455G>A (p.Leu2485=) c.7452G>A (p.Leu2484=) c.907G>A n.7538G>A | dbSNP gnomAD v4 |
19 | g.38500831G>C | CA507354003 | RYR1 | c.7455G>C (p.Leu2485=) c.7452G>C (p.Leu2484=) c.907G>C n.7538G>C | |
19 | g.38500831G= | CA2335053458 | RYR1 | c.7455G= (p.Leu2485=) c.7452G= (p.Leu2484=) c.907G= n.7538G= | |
19 | g.38500831G>T | CA507354004 | RYR1 | c.7455G>T (p.Leu2485=) c.7452G>T (p.Leu2484=) c.907G>T n.7538G>T | |
19 | g.38500832G>A | CA082452 | RYR1 | c.7456G>A (p.Val2486Met) c.7453G>A (p.Val2485Met) c.908G>A n.7539G>A | dbSNP |
19 | g.38500832G>C | CA405670242 | RYR1 | c.7456G>C (p.Val2486Leu) c.7453G>C (p.Val2485Leu) c.908G>C n.7539G>C | |
19 | g.38500832G>T | CA405670243 | RYR1 | c.7456G>T (p.Val2486Leu) c.7453G>T (p.Val2485Leu) c.908G>T n.7539G>T | |
19 | g.38500833T>A | CA405670244 | RYR1 | c.7457T>A (p.Val2486Glu) c.7454T>A (p.Val2485Glu) c.909T>A n.7540T>A | |
19 | g.38500833T>C | CA405670245 | RYR1 | c.7457T>C (p.Val2486Ala) c.7454T>C (p.Val2485Ala) c.909T>C n.7540T>C | |
19 | g.38500833T>G | CA405670246 | RYR1 | c.7457T>G (p.Val2486Gly) c.7454T>G (p.Val2485Gly) c.909T>G n.7540T>G | dbSNP |
19 | g.38500833T= | CA2335053459 | RYR1 | c.7457T= (p.Val2486=) c.7454T= (p.Val2485=) c.909T= n.7540T= | |
19 | g.38500834G>A | CA507354005 | RYR1 | c.7458G>A (p.Val2486=) c.7455G>A (p.Val2485=) c.910G>A n.7541G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500834G>C | CA507354006 | RYR1 | c.7458G>C (p.Val2486=) c.7455G>C (p.Val2485=) c.910G>C n.7541G>C | |
19 | g.38500834G= | CA2335053461 | RYR1 | c.7458G= (p.Val2486=) c.7455G= (p.Val2485=) c.910G= n.7541G= | |
19 | g.38500834G>T | CA507354007 | RYR1 | c.7458G>T (p.Val2486=) c.7455G>T (p.Val2485=) c.910G>T n.7541G>T | |
19 | g.38500834_38500847delinsGCAGCCAAAGATGT | CA2335053460 | RYR1 | c.7458_7471delinsGCAGCCAAAGATGT (p.Val2486=) c.7455_7468delinsGCAGCCAAAGATGT (p.Val2485=) c.910_923delinsGCAGCCAAAGATGT n.7541_7554delinsGCAGCCAAAGATGT | |
19 | g.38500835C>A | CA069702 | RYR1 | c.7459C>A (p.Gln2487Lys) c.7456C>A (p.Gln2486Lys) c.911C>A n.7542C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500835C= | CA2335053462 | RYR1 | c.7459C= (p.Gln2487=) c.7456C= (p.Gln2486=) c.911C= n.7542C= | |
19 | g.38500835C>G | CA405670247 | RYR1 | c.7459C>G (p.Gln2487Glu) c.7456C>G (p.Gln2486Glu) c.911C>G n.7542C>G | ClinVar dbSNP |
19 | g.38500835C>T | CA405670248 | RYR1 | c.7459C>T (p.Gln2487Ter) c.7456C>T (p.Gln2486Ter) c.911C>T n.7542C>T | gnomAD v4 |
19 | g.38500839_38500851del | CA024801 | RYR1 | c.7463_7475del (p.Pro2488HisfsTer?) c.7460_7472del (p.Pro2487HisfsTer?) c.915_927del n.7546_7558del | ClinVar dbSNP |
19 | g.38500836A>C | CA405670249 | RYR1 | c.7460A>C (p.Gln2487Pro) c.7457A>C (p.Gln2486Pro) c.912A>C n.7543A>C | |
19 | g.38500836A>G | CA405670250 | RYR1 | c.7460A>G (p.Gln2487Arg) c.7457A>G (p.Gln2486Arg) c.912A>G n.7543A>G | |
19 | g.38500836A>T | CA405670251 | RYR1 | c.7460A>T (p.Gln2487Leu) c.7457A>T (p.Gln2486Leu) c.912A>T n.7543A>T | |
19 | g.38500837G>A | CA507354008 | RYR1 | c.7461G>A (p.Gln2487=) c.7458G>A (p.Gln2486=) c.913G>A n.7544G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500837G>C | CA405670252 | RYR1 | c.7461G>C (p.Gln2487His) c.7458G>C (p.Gln2486His) c.913G>C n.7544G>C | |
19 | g.38500837G= | CA2335053463 | RYR1 | c.7461G= (p.Gln2487=) c.7458G= (p.Gln2486=) c.913G= n.7544G= | |
19 | g.38500837G>T | CA069706 | RYR1 | c.7461G>T (p.Gln2487His) c.7458G>T (p.Gln2486His) c.913G>T n.7544G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500838C>A | CA082465 | RYR1 | c.7462C>A (p.Pro2488Thr) c.7459C>A (p.Pro2487Thr) c.914C>A n.7545C>A | |
19 | g.38500838C>G | CA405670253 | RYR1 | c.7462C>G (p.Pro2488Ala) c.7459C>G (p.Pro2487Ala) c.914C>G n.7545C>G | |
19 | g.38500838C>T | CA405670254 | RYR1 | c.7462C>T (p.Pro2488Ser) c.7459C>T (p.Pro2487Ser) c.914C>T n.7545C>T | gnomAD v4 |
19 | g.38500839C>A | CA405670255 | RYR1 | c.7463C>A (p.Pro2488Gln) c.7460C>A (p.Pro2487Gln) c.915C>A n.7546C>A | |
19 | g.38500839C>G | CA405670256 | RYR1 | c.7463C>G (p.Pro2488Arg) c.7460C>G (p.Pro2487Arg) c.915C>G n.7546C>G | gnomAD v4 |
19 | g.38500839C>T | CA405670257 | RYR1 | c.7463C>T (p.Pro2488Leu) c.7460C>T (p.Pro2487Leu) c.915C>T n.7546C>T | |
19 | g.38500840A>C | CA507354010 | RYR1 | c.7464A>C (p.Pro2488=) c.7461A>C (p.Pro2487=) c.916A>C n.7547A>C | |
19 | g.38500840A>G | CA507354011 | RYR1 | c.7464A>G (p.Pro2488=) c.7461A>G (p.Pro2487=) c.916A>G n.7547A>G | |
19 | g.38500840A>T | CA507354009 | RYR1 | c.7464A>T (p.Pro2488=) c.7461A>T (p.Pro2487=) c.916A>T n.7547A>T | |
19 | g.38500841A>C | CA405670258 | RYR1 | c.7465A>C (p.Lys2489Gln) c.7462A>C (p.Lys2488Gln) c.917A>C n.7548A>C | |
19 | g.38500841A>G | CA405670259 | RYR1 | c.7465A>G (p.Lys2489Glu) c.7462A>G (p.Lys2488Glu) c.917A>G n.7548A>G | |
19 | g.38500841A>T | CA405670260 | RYR1 | c.7465A>T (p.Lys2489Ter) c.7462A>T (p.Lys2488Ter) c.917A>T n.7548A>T | |
19 | g.38500842A>C | CA405670261 | RYR1 | c.7466A>C (p.Lys2489Thr) c.7463A>C (p.Lys2488Thr) c.918A>C n.7549A>C | |
19 | g.38500842A>G | CA405670262 | RYR1 | c.7466A>G (p.Lys2489Arg) c.7463A>G (p.Lys2488Arg) c.918A>G n.7549A>G | |
19 | g.38500842A>T | CA405670263 | RYR1 | c.7466A>T (p.Lys2489Met) c.7463A>T (p.Lys2488Met) c.918A>T n.7549A>T | |
19 | g.38500843G>A | CA507354012 | RYR1 | c.7467G>A (p.Lys2489=) c.7464G>A (p.Lys2488=) c.919G>A n.7550G>A | ClinVar |
19 | g.38500843G>C | CA405670265 | RYR1 | c.7467G>C (p.Lys2489Asn) c.7464G>C (p.Lys2488Asn) c.919G>C n.7550G>C | dbSNP |
19 | g.38500843G>T | CA405670264 | RYR1 | c.7467G>T (p.Lys2489Asn) c.7464G>T (p.Lys2488Asn) c.919G>T n.7550G>T | COSMIC |
19 | g.38500844A>C | CA405670266 | RYR1 | c.7468A>C (p.Met2490Leu) c.7465A>C (p.Met2489Leu) c.920A>C n.7551A>C | |
19 | g.38500844A>G | CA405670267 | RYR1 | c.7468A>G (p.Met2490Val) c.7465A>G (p.Met2489Val) c.920A>G n.7551A>G | COSMIC |
19 | g.38500844A>T | CA405670268 | RYR1 | c.7468A>T (p.Met2490Leu) c.7465A>T (p.Met2489Leu) c.920A>T n.7551A>T | |
19 | g.38500845T>A | CA405670269 | RYR1 | c.7469T>A (p.Met2490Lys) c.7466T>A (p.Met2489Lys) c.921T>A n.7552T>A | |
19 | g.38500845T>C | CA405670270 | RYR1 | c.7469T>C (p.Met2490Thr) c.7466T>C (p.Met2489Thr) c.921T>C n.7552T>C | |
19 | g.38500845T>G | CA405670271 | RYR1 | c.7469T>G (p.Met2490Arg) c.7466T>G (p.Met2489Arg) c.921T>G n.7552T>G | dbSNP |
19 | g.38500845T= | CA2335053464 | RYR1 | c.7469T= (p.Met2490=) c.7466T= (p.Met2489=) c.921T= n.7552T= | |
19 | g.38500846G>A | CA405670274 | RYR1 | c.7470G>A (p.Met2490Ile) c.7467G>A (p.Met2489Ile) c.922G>A n.7553G>A | |
19 | g.38500846G>C | CA405670273 | RYR1 | c.7470G>C (p.Met2490Ile) c.7467G>C (p.Met2489Ile) c.922G>C n.7553G>C | |
19 | g.38500846G>T | CA405670272 | RYR1 | c.7470G>T (p.Met2490Ile) c.7467G>T (p.Met2489Ile) c.922G>T n.7553G>T | |
19 | g.38500847T>A | CA405670275 | RYR1 | c.7471T>A (p.Ser2491Thr) c.7468T>A (p.Ser2490Thr) c.923T>A n.7554T>A | |
19 | g.38500847T>C | CA405670276 | RYR1 | c.7471T>C (p.Ser2491Pro) c.7468T>C (p.Ser2490Pro) c.923T>C n.7554T>C | |
19 | g.38500847T>G | CA405670277 | RYR1 | c.7471T>G (p.Ser2491Ala) c.7468T>G (p.Ser2490Ala) c.923T>G n.7554T>G | |
19 | g.38500848C>A | CA405670278 | RYR1 | c.7472C>A (p.Ser2491Ter) c.7469C>A (p.Ser2490Ter) c.924C>A n.7555C>A | |
19 | g.38500848C>G | CA405670279 | RYR1 | c.7472C>G (p.Ser2491Ter) c.7469C>G (p.Ser2490Ter) c.924C>G n.7555C>G | |
19 | g.38500848C>T | CA405670280 | RYR1 | c.7472C>T (p.Ser2491Leu) c.7469C>T (p.Ser2490Leu) c.924C>T n.7555C>T | |
19 | g.38500849A>C | CA507354013 | RYR1 | c.7473A>C (p.Ser2491=) c.7470A>C (p.Ser2490=) c.925A>C n.7556A>C | |
19 | g.38500849A>G | CA507354014 | RYR1 | c.7473A>G (p.Ser2491=) c.7470A>G (p.Ser2490=) c.925A>G n.7556A>G | |
19 | g.38500849A>T | CA507354015 | RYR1 | c.7473A>T (p.Ser2491=) c.7470A>T (p.Ser2490=) c.925A>T n.7556A>T | |
19 | g.38500850G>A | CA405670281 | RYR1 | c.7474G>A (p.Ala2492Thr) c.7471G>A (p.Ala2491Thr) c.926G>A n.7557G>A | gnomAD v4 |
19 | g.38500850G>C | CA405670283 | RYR1 | c.7474G>C (p.Ala2492Pro) c.7471G>C (p.Ala2491Pro) c.926G>C n.7557G>C | |
19 | g.38500850G>T | CA405670282 | RYR1 | c.7474G>T (p.Ala2492Ser) c.7471G>T (p.Ala2491Ser) c.926G>T n.7557G>T | gnomAD v4 |
19 | g.38500850_38500851insT | CA2736030409 | RYR1 | c.7474_7475insT (p.Ala2492ValfsTer?) c.7471_7472insT (p.Ala2491ValfsTer?) c.926_927insT n.7557_7558insT | dbSNP |
19 | g.38500851C>A | CA405670284 | RYR1 | c.7475C>A (p.Ala2492Glu) c.7472C>A (p.Ala2491Glu) c.927C>A n.7558C>A | |
19 | g.38500851C= | CA2335053465 | RYR1 | c.7475C= (p.Ala2492=) c.7472C= (p.Ala2491=) c.927C= n.7558C= | |
19 | g.38500851C>G | CA405670285 | RYR1 | c.7475C>G (p.Ala2492Gly) c.7472C>G (p.Ala2491Gly) c.927C>G n.7558C>G | |
19 | g.38500851C>T | CA405670286 | RYR1 | c.7475C>T (p.Ala2492Val) c.7472C>T (p.Ala2491Val) c.927C>T n.7558C>T | dbSNP gnomAD v4 |
19 | g.38500852A= | CA2335053466 | RYR1 | c.7476A= (p.Ala2492=) c.7473A= (p.Ala2491=) c.928A= n.7559A= | |
19 | g.38500852A>C | CA507354016 | RYR1 | c.7476A>C (p.Ala2492=) c.7473A>C (p.Ala2491=) c.928A>C n.7559A>C | |
19 | g.38500852A>G | CA082447 | RYR1 | c.7476A>G (p.Ala2492=) c.7473A>G (p.Ala2491=) c.928A>G n.7559A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500852A>T | CA507354017 | RYR1 | c.7476A>T (p.Ala2492=) c.7473A>T (p.Ala2491=) c.928A>T n.7559A>T | |
19 | g.38500853T>A | CA405670287 | RYR1 | c.7477T>A (p.Ser2493Thr) c.7474T>A (p.Ser2492Thr) c.929T>A n.7560T>A | COSMIC |
19 | g.38500853T>C | CA405670288 | RYR1 | c.7477T>C (p.Ser2493Pro) c.7474T>C (p.Ser2492Pro) c.929T>C n.7560T>C | |
19 | g.38500853T>G | CA405670289 | RYR1 | c.7477T>G (p.Ser2493Ala) c.7474T>G (p.Ser2492Ala) c.929T>G n.7560T>G | |
19 | g.38500853_38500854delinsTC | CA2335053467 | RYR1 | c.7477_7478delinsTC (p.Ser2493=) c.7474_7475delinsTC (p.Ser2492=) c.929_930delinsTC n.7560_7561delinsTC | |
19 | g.38500854C>A | CA405670290 | RYR1 | c.7478C>A (p.Ser2493Tyr) c.7475C>A (p.Ser2492Tyr) c.930C>A n.7561C>A | |
19 | g.38500854C>G | CA405670291 | RYR1 | c.7478C>G (p.Ser2493Cys) c.7475C>G (p.Ser2492Cys) c.930C>G n.7561C>G | |
19 | g.38500854C>T | CA405670292 | RYR1 | c.7478C>T (p.Ser2493Phe) c.7475C>T (p.Ser2492Phe) c.930C>T n.7561C>T | COSMIC |
19 | g.38500855del | CA995716238 | RYR1 | c.7479del (p.Phe2494SerfsTer?) c.7476del (p.Phe2493SerfsTer?) c.931del n.7562del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500855C>A | CA507354018 | RYR1 | c.7479C>A (p.Ser2493=) c.7476C>A (p.Ser2492=) c.931C>A n.7562C>A | |
19 | g.38500855C= | CA2335053468 | RYR1 | c.7479C= (p.Ser2493=) c.7476C= (p.Ser2492=) c.931C= n.7562C= | |
19 | g.38500855C>G | CA507354019 | RYR1 | c.7479C>G (p.Ser2493=) c.7476C>G (p.Ser2492=) c.931C>G n.7562C>G | ClinVar gnomAD v4 |
19 | g.38500855C>T | CA507354020 | RYR1 | c.7479C>T (p.Ser2493=) c.7476C>T (p.Ser2492=) c.931C>T n.7562C>T | dbSNP |
19 | g.38500856T>A | CA069709 | RYR1 | c.7480T>A (p.Phe2494Ile) c.7477T>A (p.Phe2493Ile) c.932T>A n.7563T>A | dbSNP ExAC gnomAD v2 |
19 | g.38500856T>C | CA405670293 | RYR1 | c.7480T>C (p.Phe2494Leu) c.7477T>C (p.Phe2493Leu) c.932T>C n.7563T>C | |
19 | g.38500856T>G | CA405670294 | RYR1 | c.7480T>G (p.Phe2494Val) c.7477T>G (p.Phe2493Val) c.932T>G n.7563T>G | |
19 | g.38500856T= | CA2335053470 | RYR1 | c.7480T= (p.Phe2494=) c.7477T= (p.Phe2493=) c.932T= n.7563T= | |
19 | g.38500856_38500859delinsTTCG | CA2335053469 | RYR1 | c.7480_7483delinsTTCG (p.Phe2494=) c.7477_7480delinsTTCG (p.Phe2493=) c.932_935delinsTTCG n.7563_7566delinsTTCG | |
19 | g.38500857T>A | CA405670295 | RYR1 | c.7481T>A (p.Phe2494Tyr) c.7478T>A (p.Phe2493Tyr) c.933T>A n.7564T>A | |
19 | g.38500857T>C | CA405670296 | RYR1 | c.7481T>C (p.Phe2494Ser) c.7478T>C (p.Phe2493Ser) c.933T>C n.7564T>C | |
19 | g.38500857T>G | CA082448 | RYR1 | c.7481T>G (p.Phe2494Cys) c.7478T>G (p.Phe2493Cys) c.933T>G n.7564T>G | |
19 | g.38500857_38500859delinsTCG | CA2335053472 | RYR1 | c.7481_7483delinsTCG (p.Phe2494=) c.7478_7480delinsTCG (p.Phe2493=) c.933_935delinsTCG n.7564_7566delinsTCG | |
19 | g.38500858_38500860del | CA2335053471 | RYR1 | c.7482_7484del (p.Phe2494_Val2495delinsLeu) c.7479_7481del (p.Phe2493_Val2494delinsLeu) c.934_936del n.7565_7567del | dbSNP |
19 | g.38500858C>A | CA405670297 | RYR1 | c.7482C>A (p.Phe2494Leu) c.7479C>A (p.Phe2493Leu) c.934C>A n.7565C>A | |
19 | g.38500858C= | CA2335053473 | RYR1 | c.7482C= (p.Phe2494=) c.7479C= (p.Phe2493=) c.934C= n.7565C= | |
19 | g.38500858C>G | CA069713 | RYR1 | c.7482C>G (p.Phe2494Leu) c.7479C>G (p.Phe2493Leu) c.934C>G n.7565C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500858C>T | CA069717 | RYR1 | c.7482C>T (p.Phe2494=) c.7479C>T (p.Phe2493=) c.934C>T n.7565C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38500858_38500859del | CA995716251 | RYR1 | c.7482_7483del (p.Val2495AlafsTer?) c.7479_7480del (p.Val2494AlafsTer?) c.934_935del n.7565_7566del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500859G>A | CA082467 | RYR1 | c.7483G>A (p.Val2495Met) c.7480G>A (p.Val2494Met) c.935G>A n.7566G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500859G>C | CA405670298 | RYR1 | c.7483G>C (p.Val2495Leu) c.7480G>C (p.Val2494Leu) c.935G>C n.7566G>C | dbSNP gnomAD v4 |
19 | g.38500859G= | CA2335053474 | RYR1 | c.7483G= (p.Val2495=) c.7480G= (p.Val2494=) c.935G= n.7566G= | |
19 | g.38500859G>T | CA405670299 | RYR1 | c.7483G>T (p.Val2495Leu) c.7480G>T (p.Val2494Leu) c.935G>T n.7566G>T | |
19 | g.38500860T>A | CA405670300 | RYR1 | c.7484T>A (p.Val2495Glu) c.7481T>A (p.Val2494Glu) c.936T>A n.7567T>A | |
19 | g.38500860T>C | CA405670301 | RYR1 | c.7484T>C (p.Val2495Ala) c.7481T>C (p.Val2494Ala) c.936T>C n.7567T>C | |
19 | g.38500860T>G | CA405670302 | RYR1 | c.7484T>G (p.Val2495Gly) c.7481T>G (p.Val2494Gly) c.936T>G n.7567T>G | |
19 | g.38500861G>A | CA507354027 | RYR1 | c.7485G>A (p.Val2495=) c.7482G>A (p.Val2494=) c.937G>A n.7568G>A | |
19 | g.38500861G>C | CA507354028 | RYR1 | c.7485G>C (p.Val2495=) c.7482G>C (p.Val2494=) c.937G>C n.7568G>C | |
19 | g.38500861G>T | CA507354029 | RYR1 | c.7485G>T (p.Val2495=) c.7482G>T (p.Val2494=) c.937G>T n.7568G>T | |
19 | g.38500862C>A | CA405670303 | RYR1 | c.7486C>A (p.Pro2496Thr) c.7483C>A (p.Pro2495Thr) c.938C>A n.7569C>A | |
19 | g.38500862C>G | CA405670304 | RYR1 | c.7486C>G (p.Pro2496Ala) c.7483C>G (p.Pro2495Ala) c.938C>G n.7569C>G | |
19 | g.38500862C>T | CA405670305 | RYR1 | c.7486C>T (p.Pro2496Ser) c.7483C>T (p.Pro2495Ser) c.938C>T n.7569C>T | ClinVar |
19 | g.38500863C>A | CA405670306 | RYR1 | c.7487C>A (p.Pro2496Gln) c.7484C>A (p.Pro2495Gln) c.939C>A n.7570C>A | |
19 | g.38500863C= | CA2335053475 | RYR1 | c.7487C= (p.Pro2496=) c.7484C= (p.Pro2495=) c.939C= n.7570C= | |
19 | g.38500863C>G | CA024804 | RYR1 | c.7487C>G (p.Pro2496Arg) c.7484C>G (p.Pro2495Arg) c.939C>G n.7570C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38500863C>T | CA024807 | RYR1 | c.7487C>T (p.Pro2496Leu) c.7484C>T (p.Pro2495Leu) c.939C>T n.7570C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500864G>A | CA069727 | RYR1 | c.7488G>A (p.Pro2496=) c.7485G>A (p.Pro2495=) c.940G>A n.7571G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500864G>C | CA507354032 | RYR1 | c.7488G>C (p.Pro2496=) c.7485G>C (p.Pro2495=) c.940G>C n.7571G>C | |
19 | g.38500864G= | CA2335053476 | RYR1 | c.7488G= (p.Pro2496=) c.7485G= (p.Pro2495=) c.940G= n.7571G= | |
19 | g.38500864G>T | CA507354033 | RYR1 | c.7488G>T (p.Pro2496=) c.7485G>T (p.Pro2495=) c.940G>T n.7571G>T | gnomAD v4 |
19 | g.38500865G>A | CA405670307 | RYR1 | c.7489G>A (p.Asp2497Asn) c.7486G>A (p.Asp2496Asn) c.941G>A n.7572G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500865G>C | CA405670308 | RYR1 | c.7489G>C (p.Asp2497His) c.7486G>C (p.Asp2496His) c.941G>C n.7572G>C | ClinVar dbSNP |
19 | g.38500865G= | CA2335053477 | RYR1 | c.7489G= (p.Asp2497=) c.7486G= (p.Asp2496=) c.941G= n.7572G= | |
19 | g.38500865G>T | CA405670309 | RYR1 | c.7489G>T (p.Asp2497Tyr) c.7486G>T (p.Asp2496Tyr) c.941G>T n.7572G>T | |
19 | g.38500866A>C | CA405670310 | RYR1 | c.7490A>C (p.Asp2497Ala) c.7487A>C (p.Asp2496Ala) c.942A>C n.7573A>C | |
19 | g.38500866A>G | CA405670311 | RYR1 | c.7490A>G (p.Asp2497Gly) c.7487A>G (p.Asp2496Gly) c.942A>G n.7573A>G | |
19 | g.38500866A>T | CA405670312 | RYR1 | c.7490A>T (p.Asp2497Val) c.7487A>T (p.Asp2496Val) c.942A>T n.7573A>T | |
19 | g.38500867C>A | CA405670313 | RYR1 | c.7491C>A (p.Asp2497Glu) c.7488C>A (p.Asp2496Glu) c.943C>A n.7574C>A | gnomAD v4 |
19 | g.38500867C>G | CA405670314 | RYR1 | c.7491C>G (p.Asp2497Glu) c.7488C>G (p.Asp2496Glu) c.943C>G n.7574C>G | gnomAD v4 |
19 | g.38500867C>T | CA507354035 | RYR1 | c.7491C>T (p.Asp2497=) c.7488C>T (p.Asp2496=) c.943C>T n.7574C>T | |
19 | g.38500868C>A | CA405670315 | RYR1 | c.7492C>A (p.His2498Asn) c.7489C>A (p.His2497Asn) c.944C>A n.7575C>A | |
19 | g.38500868C>G | CA405670316 | RYR1 | c.7492C>G (p.His2498Asp) c.7489C>G (p.His2497Asp) c.944C>G n.7575C>G | |
19 | g.38500868C>T | CA405670317 | RYR1 | c.7492C>T (p.His2498Tyr) c.7489C>T (p.His2497Tyr) c.944C>T n.7575C>T | |
19 | g.38500869A>C | CA405670319 | RYR1 | c.7493A>C (p.His2498Pro) c.7490A>C (p.His2497Pro) c.945A>C n.7576A>C | |
19 | g.38500869A>G | CA405670320 | RYR1 | c.7493A>G (p.His2498Arg) c.7490A>G (p.His2497Arg) c.945A>G n.7576A>G | gnomAD v4 |
19 | g.38500869A>T | CA405670318 | RYR1 | c.7493A>T (p.His2498Leu) c.7490A>T (p.His2497Leu) c.945A>T n.7576A>T | |
19 | g.38500870C>A | CA405670322 | RYR1 | c.7494C>A (p.His2498Gln) c.7491C>A (p.His2497Gln) c.946C>A n.7577C>A | |
19 | g.38500870C= | CA2335053478 | RYR1 | c.7494C= (p.His2498=) c.7491C= (p.His2497=) c.946C= n.7577C= | |
19 | g.38500870C>G | CA405670321 | RYR1 | c.7494C>G (p.His2498Gln) c.7491C>G (p.His2497Gln) c.946C>G n.7577C>G | |
19 | g.38500870C>T | CA069730 | RYR1 | c.7494C>T (p.His2498=) c.7491C>T (p.His2497=) c.946C>T n.7577C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500871A>C | CA405670323 | RYR1 | c.7495A>C (p.Lys2499Gln) c.7492A>C (p.Lys2498Gln) c.947A>C n.7578A>C | |
19 | g.38500871A>G | CA405670324 | RYR1 | c.7495A>G (p.Lys2499Glu) c.7492A>G (p.Lys2498Glu) c.947A>G n.7578A>G | |
19 | g.38500871A>T | CA405670325 | RYR1 | c.7495A>T (p.Lys2499Ter) c.7492A>T (p.Lys2498Ter) c.947A>T n.7578A>T | |
19 | g.38500871_38500872dup | CA2825002782 | RYR1 | c.7495_7496dup (p.Ala2500ArgfsTer?) c.7492_7493dup (p.Ala2499ArgfsTer?) c.947_948dup n.7578_7579dup | ClinVar |
19 | g.38500872A= | CA2335053479 | RYR1 | c.7496A= (p.Lys2499=) c.7493A= (p.Lys2498=) c.948A= n.7579A= | |
19 | g.38500872A>C | CA405670326 | RYR1 | c.7496A>C (p.Lys2499Thr) c.7493A>C (p.Lys2498Thr) c.948A>C n.7579A>C | |
19 | g.38500872A>G | CA405670327 | RYR1 | c.7496A>G (p.Lys2499Arg) c.7493A>G (p.Lys2498Arg) c.948A>G n.7579A>G | ClinVar dbSNP gnomAD v4 |
19 | g.38500872A>T | CA405670328 | RYR1 | c.7496A>T (p.Lys2499Met) c.7493A>T (p.Lys2498Met) c.948A>T n.7579A>T | |
19 | g.38500873G>A | CA507354038 | RYR1 | c.7497G>A (p.Lys2499=) c.7494G>A (p.Lys2498=) c.949G>A n.7580G>A | |
19 | g.38500873G>C | CA405670329 | RYR1 | c.7497G>C (p.Lys2499Asn) c.7494G>C (p.Lys2498Asn) c.949G>C n.7580G>C | |
19 | g.38500873G= | CA2335053480 | RYR1 | c.7497G= (p.Lys2499=) c.7494G= (p.Lys2498=) c.949G= n.7580G= | |
19 | g.38500873G>T | CA405670330 | RYR1 | c.7497G>T (p.Lys2499Asn) c.7494G>T (p.Lys2498Asn) c.949G>T n.7580G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38500874G>A | CA405670331 | RYR1 | c.7498G>A (p.Ala2500Thr) c.7495G>A (p.Ala2499Thr) c.950G>A n.7581G>A | dbSNP gnomAD v4 |
19 | g.38500874G>C | CA405670332 | RYR1 | c.7498G>C (p.Ala2500Pro) c.7495G>C (p.Ala2499Pro) c.950G>C n.7581G>C | |
19 | g.38500874G= | CA2335053481 | RYR1 | c.7498G= (p.Ala2500=) c.7495G= (p.Ala2499=) c.950G= n.7581G= | |
19 | g.38500874G>T | CA405670333 | RYR1 | c.7498G>T (p.Ala2500Ser) c.7495G>T (p.Ala2499Ser) c.950G>T n.7581G>T | |
19 | g.38500875C>A | CA405670335 | RYR1 | c.7499C>A (p.Ala2500Glu) c.7496C>A (p.Ala2499Glu) c.951C>A n.7582C>A | dbSNP gnomAD v4 |
19 | g.38500875C= | CA2335053482 | RYR1 | c.7499C= (p.Ala2500=) c.7496C= (p.Ala2499=) c.951C= n.7582C= | |
19 | g.38500875C>G | CA405670334 | RYR1 | c.7499C>G (p.Ala2500Gly) c.7496C>G (p.Ala2499Gly) c.951C>G n.7582C>G | |
19 | g.38500875C>T | CA069734 | RYR1 | c.7499C>T (p.Ala2500Val) c.7496C>T (p.Ala2499Val) c.951C>T n.7582C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500876G>A | CA024810 | RYR1 | c.7500G>A (p.Ala2500=) c.7497G>A (p.Ala2499=) c.952G>A n.7583G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500876G>C | CA507354041 | RYR1 | c.7500G>C (p.Ala2500=) c.7497G>C (p.Ala2499=) c.952G>C n.7583G>C | |
19 | g.38500876G= | CA2335053483 | RYR1 | c.7500G= (p.Ala2500=) c.7497G= (p.Ala2499=) c.952G= n.7583G= | |
19 | g.38500876G>T | CA024813 | RYR1 | c.7500G>T (p.Ala2500=) c.7497G>T (p.Ala2499=) c.952G>T n.7583G>T | ClinVar dbSNP |
19 | g.38500877T>A | CA405670336 | RYR1 | c.7501T>A (p.Ser2501Thr) c.7498T>A (p.Ser2500Thr) c.953T>A n.7584T>A | |
19 | g.38500877T>C | CA405670337 | RYR1 | c.7501T>C (p.Ser2501Pro) c.7498T>C (p.Ser2500Pro) c.953T>C n.7584T>C | dbSNP |
19 | g.38500877T>G | CA405670338 | RYR1 | c.7501T>G (p.Ser2501Ala) c.7498T>G (p.Ser2500Ala) c.953T>G n.7584T>G | |
19 | g.38500877T= | CA2335053484 | RYR1 | c.7501T= (p.Ser2501=) c.7498T= (p.Ser2500=) c.953T= n.7584T= | |
19 | g.38500878C>A | CA405670339 | RYR1 | c.7502C>A (p.Ser2501Tyr) c.7499C>A (p.Ser2500Tyr) c.954C>A n.7585C>A | |
19 | g.38500878C= | CA2335053485 | RYR1 | c.7502C= (p.Ser2501=) c.7499C= (p.Ser2500=) c.954C= n.7585C= | |
19 | g.38500878C>G | CA405670340 | RYR1 | c.7502C>G (p.Ser2501Cys) c.7499C>G (p.Ser2500Cys) c.954C>G n.7585C>G | |
19 | g.38500878C>T | CA082474 | RYR1 | c.7502C>T (p.Ser2501Phe) c.7499C>T (p.Ser2500Phe) c.954C>T n.7585C>T | dbSNP COSMIC |
19 | g.38500879C>A | CA507354042 | RYR1 | c.7503C>A (p.Ser2501=) c.7500C>A (p.Ser2500=) c.955C>A n.7586C>A | |
19 | g.38500879C= | CA2335053486 | RYR1 | c.7503C= (p.Ser2501=) c.7500C= (p.Ser2500=) c.955C= n.7586C= | |
19 | g.38500879C>G | CA507354043 | RYR1 | c.7503C>G (p.Ser2501=) c.7500C>G (p.Ser2500=) c.955C>G n.7586C>G | |
19 | g.38500879C>T | CA507354044 | RYR1 | c.7503C>T (p.Ser2501=) c.7500C>T (p.Ser2500=) c.955C>T n.7586C>T | dbSNP gnomAD v4 |
19 | g.38500880A>C | CA405670341 | RYR1 | c.7504A>C (p.Met2502Leu) c.7501A>C (p.Met2501Leu) c.956A>C n.7587A>C | |
19 | g.38500880A>G | CA405670342 | RYR1 | c.7504A>G (p.Met2502Val) c.7501A>G (p.Met2501Val) c.956A>G n.7587A>G | |
19 | g.38500880A>T | CA405670343 | RYR1 | c.7504A>T (p.Met2502Leu) c.7501A>T (p.Met2501Leu) c.956A>T n.7587A>T | |
19 | g.38500881T>A | CA405670345 | RYR1 | c.7505T>A (p.Met2502Lys) c.7502T>A (p.Met2501Lys) c.957T>A n.7588T>A | |
19 | g.38500881T>C | CA405670346 | RYR1 | c.7505T>C (p.Met2502Thr) c.7502T>C (p.Met2501Thr) c.957T>C n.7588T>C | gnomAD v4 |
19 | g.38500881T>G | CA405670344 | RYR1 | c.7505T>G (p.Met2502Arg) c.7502T>G (p.Met2501Arg) c.957T>G n.7588T>G | |
19 | g.38500882G>A | CA405670347 | RYR1 | c.7506G>A (p.Met2502Ile) c.7503G>A (p.Met2501Ile) c.958G>A n.7589G>A | |
19 | g.38500882G>C | CA405670348 | RYR1 | c.7506G>C (p.Met2502Ile) c.7503G>C (p.Met2501Ile) c.958G>C n.7589G>C | |
19 | g.38500882G>T | CA405670349 | RYR1 | c.7506G>T (p.Met2502Ile) c.7503G>T (p.Met2501Ile) c.958G>T n.7589G>T | |
19 | g.38500883G>A | CA405670350 | RYR1 | c.7507G>A (p.Val2503Met) c.7504G>A (p.Val2502Met) c.959G>A n.7590G>A | gnomAD v4 |
19 | g.38500883G>C | CA405670351 | RYR1 | c.7507G>C (p.Val2503Leu) c.7504G>C (p.Val2502Leu) c.959G>C n.7590G>C | |
19 | g.38500883G>T | CA405670352 | RYR1 | c.7507G>T (p.Val2503Leu) c.7504G>T (p.Val2502Leu) c.959G>T n.7590G>T | |
19 | g.38500884T>A | CA405670353 | RYR1 | c.7508T>A (p.Val2503Glu) c.7505T>A (p.Val2502Glu) c.960T>A n.7591T>A | |
19 | g.38500884T>C | CA069741 | RYR1 | c.7508T>C (p.Val2503Ala) c.7505T>C (p.Val2502Ala) c.960T>C n.7591T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500884T>G | CA405670354 | RYR1 | c.7508T>G (p.Val2503Gly) c.7505T>G (p.Val2502Gly) c.960T>G n.7591T>G | |
19 | g.38500884T= | CA2335053487 | RYR1 | c.7508T= (p.Val2503=) c.7505T= (p.Val2502=) c.960T= n.7591T= | |
19 | g.38500885G>A | CA507354049 | RYR1 | c.7509G>A (p.Val2503=) c.7506G>A (p.Val2502=) c.961G>A n.7592G>A | |
19 | g.38500885G>C | CA069744 | RYR1 | c.7509G>C (p.Val2503=) c.7506G>C (p.Val2502=) c.961G>C n.7592G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500885G= | CA2335053488 | RYR1 | c.7509G= (p.Val2503=) c.7506G= (p.Val2502=) c.961G= n.7592G= | |
19 | g.38500885G>T | CA507354050 | RYR1 | c.7509G>T (p.Val2503=) c.7506G>T (p.Val2502=) c.961G>T n.7592G>T | |
19 | g.38500886C>A | CA405670355 | RYR1 | c.7510C>A (p.Leu2504Ile) c.7507C>A (p.Leu2503Ile) c.962C>A n.7593C>A | |
19 | g.38500886C>G | CA405670356 | RYR1 | c.7510C>G (p.Leu2504Val) c.7507C>G (p.Leu2503Val) c.962C>G n.7593C>G | |
19 | g.38500886C>T | CA405670357 | RYR1 | c.7510C>T (p.Leu2504Phe) c.7507C>T (p.Leu2503Phe) c.962C>T n.7593C>T | ClinVar dbSNP |
19 | g.38500887T>A | CA405670359 | RYR1 | c.7511T>A (p.Leu2504His) c.7508T>A (p.Leu2503His) c.963T>A n.7594T>A | |
19 | g.38500887T>C | CA082476 | RYR1 | c.7511T>C (p.Leu2504Pro) c.7508T>C (p.Leu2503Pro) c.963T>C n.7594T>C | dbSNP |
19 | g.38500887T>G | CA405670358 | RYR1 | c.7511T>G (p.Leu2504Arg) c.7508T>G (p.Leu2503Arg) c.963T>G n.7594T>G | |
19 | g.38500887T= | CA2335053489 | RYR1 | c.7511T= (p.Leu2504=) c.7508T= (p.Leu2503=) c.963T= n.7594T= | |
19 | g.38500888C>A | CA507354051 | RYR1 | c.7512C>A (p.Leu2504=) c.7509C>A (p.Leu2503=) c.964C>A n.7595C>A | |
19 | g.38500888C>G | CA507354052 | RYR1 | c.7512C>G (p.Leu2504=) c.7509C>G (p.Leu2503=) c.964C>G n.7595C>G | |
19 | g.38500888C>T | CA507354053 | RYR1 | c.7512C>T (p.Leu2504=) c.7509C>T (p.Leu2503=) c.964C>T n.7595C>T | |
19 | g.38500889T>A | CA405670360 | RYR1 | c.7513T>A (p.Phe2505Ile) c.7510T>A (p.Phe2504Ile) c.965T>A n.7596T>A | |
19 | g.38500889T>C | CA405670361 | RYR1 | c.7513T>C (p.Phe2505Leu) c.7510T>C (p.Phe2504Leu) c.965T>C n.7596T>C | dbSNP |
19 | g.38500889T>G | CA405670362 | RYR1 | c.7513T>G (p.Phe2505Val) c.7510T>G (p.Phe2504Val) c.965T>G n.7596T>G | |
19 | g.38500889T= | CA2335053490 | RYR1 | c.7513T= (p.Phe2505=) c.7510T= (p.Phe2504=) c.965T= n.7596T= | |
19 | g.38500890T>A | CA405670363 | RYR1 | c.7514T>A (p.Phe2505Tyr) c.7511T>A (p.Phe2504Tyr) c.966T>A n.7597T>A | |
19 | g.38500890T>C | CA405670364 | RYR1 | c.7514T>C (p.Phe2505Ser) c.7511T>C (p.Phe2504Ser) c.966T>C n.7597T>C | |
19 | g.38500890T>G | CA405670365 | RYR1 | c.7514T>G (p.Phe2505Cys) c.7511T>G (p.Phe2504Cys) c.966T>G n.7597T>G | |
19 | g.38500891C>A | CA405670366 | RYR1 | c.7515C>A (p.Phe2505Leu) c.7512C>A (p.Phe2504Leu) c.967C>A n.7598C>A | |
19 | g.38500891C>G | CA405670368 | RYR1 | c.7515C>G (p.Phe2505Leu) c.7512C>G (p.Phe2504Leu) c.967C>G n.7598C>G | |
19 | g.38500891C>T | CA507354054 | RYR1 | c.7515C>T (p.Phe2505=) c.7512C>T (p.Phe2504=) c.967C>T n.7598C>T | ClinVar |
19 | g.38500892C>A | CA405670369 | RYR1 | c.7516C>A (p.Leu2506Met) c.7513C>A (p.Leu2505Met) c.968C>A n.7599C>A | |
19 | g.38500892C>G | CA405670370 | RYR1 | c.7516C>G (p.Leu2506Val) c.7513C>G (p.Leu2505Val) c.968C>G n.7599C>G | |
19 | g.38500892C>T | CA507354055 | RYR1 | c.7516C>T (p.Leu2506=) c.7513C>T (p.Leu2505=) c.968C>T n.7599C>T | |
19 | g.38500893T>A | CA405670371 | RYR1 | c.7517T>A (p.Leu2506Gln) c.7514T>A (p.Leu2505Gln) c.969T>A n.7600T>A | |
19 | g.38500893T>C | CA405670372 | RYR1 | c.7517T>C (p.Leu2506Pro) c.7514T>C (p.Leu2505Pro) c.969T>C n.7600T>C | |
19 | g.38500893T>G | CA405670373 | RYR1 | c.7517T>G (p.Leu2506Arg) c.7514T>G (p.Leu2505Arg) c.969T>G n.7600T>G | |
19 | g.38500894G>A | CA507354056 | RYR1 | c.7518G>A (p.Leu2506=) c.7515G>A (p.Leu2505=) c.970G>A n.7601G>A | |
19 | g.38500894G>C | CA507354057 | RYR1 | c.7518G>C (p.Leu2506=) c.7515G>C (p.Leu2505=) c.970G>C n.7601G>C | |
19 | g.38500894G>T | CA507354058 | RYR1 | c.7518G>T (p.Leu2506=) c.7515G>T (p.Leu2505=) c.970G>T n.7601G>T | COSMIC |
19 | g.38500895G>A | CA405670375 | RYR1 | c.7519G>A (p.Asp2507Asn) c.7516G>A (p.Asp2506Asn) c.971G>A n.7602G>A | |
19 | g.38500895G>C | CA405670376 | RYR1 | c.7519G>C (p.Asp2507His) c.7516G>C (p.Asp2506His) c.971G>C n.7602G>C | |
19 | g.38500895G= | CA2335053491 | RYR1 | c.7519G= (p.Asp2507=) c.7516G= (p.Asp2506=) c.971G= n.7602G= | |
19 | g.38500895G>T | CA405670374 | RYR1 | c.7519G>T (p.Asp2507Tyr) c.7516G>T (p.Asp2506Tyr) c.971G>T n.7602G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500896A>C | CA405670377 | RYR1 | c.7520A>C (p.Asp2507Ala) c.7517A>C (p.Asp2506Ala) c.972A>C n.7603A>C | |
19 | g.38500896A>G | CA405670378 | RYR1 | c.7520A>G (p.Asp2507Gly) c.7517A>G (p.Asp2506Gly) c.972A>G n.7603A>G | |
19 | g.38500896A>T | CA405670379 | RYR1 | c.7520A>T (p.Asp2507Val) c.7517A>T (p.Asp2506Val) c.972A>T n.7603A>T | |
19 | g.38500897C>A | CA405670380 | RYR1 | c.7521C>A (p.Asp2507Glu) c.7518C>A (p.Asp2506Glu) c.973C>A n.7604C>A | |
19 | g.38500897C= | CA2335053492 | RYR1 | c.7521C= (p.Asp2507=) c.7518C= (p.Asp2506=) c.973C= n.7604C= | |
19 | g.38500897C>G | CA405670381 | RYR1 | c.7521C>G (p.Asp2507Glu) c.7518C>G (p.Asp2506Glu) c.973C>G n.7604C>G | ClinVar |
19 | g.38500897C>T | CA308110650 | RYR1 | c.7521C>T (p.Asp2507=) c.7518C>T (p.Asp2506=) c.973C>T n.7604C>T | dbSNP gnomAD v4 COSMIC |
19 | g.38500898C>A | CA405670382 | RYR1 | c.7522C>A (p.Arg2508Ser) c.7519C>A (p.Arg2507Ser) c.974C>A n.7605C>A | |
19 | g.38500898C= | CA2335053493 | RYR1 | c.7522C= (p.Arg2508=) c.7519C= (p.Arg2507=) c.974C= n.7605C= | |
19 | g.38500898C>G | CA024816 | RYR1 | c.7522C>G (p.Arg2508Gly) c.7519C>G (p.Arg2507Gly) c.974C>G n.7605C>G | ClinVar dbSNP |
19 | g.38500898C>T | CA024819 | RYR1 | c.7522C>T (p.Arg2508Cys) c.7519C>T (p.Arg2507Cys) c.974C>T n.7605C>T | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38500899G>A | CA024821 | RYR1 | c.7523G>A (p.Arg2508His) c.7520G>A (p.Arg2507His) c.975G>A n.7606G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500899G>C | CA405670383 | RYR1 | c.7523G>C (p.Arg2508Pro) c.7520G>C (p.Arg2507Pro) c.975G>C n.7606G>C | |
19 | g.38500899G= | CA2335053494 | RYR1 | c.7523G= (p.Arg2508=) c.7520G= (p.Arg2507=) c.975G= n.7606G= | |
19 | g.38500899G>T | CA405670384 | RYR1 | c.7523G>T (p.Arg2508Leu) c.7520G>T (p.Arg2507Leu) c.975G>T n.7606G>T | dbSNP |