Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38504219G>A | CA405675334 | RYR1 | c.7927-1G>A (n.7927-1G>A) c.7924-1G>A (n.7924-1G>A) c.1379-1G>A n.8010-1G>A | |
19 | g.38504219G>C | CA405675339 | RYR1 | c.7927-1G>C (n.7927-1G>C) c.7924-1G>C (n.7924-1G>C) c.1379-1G>C n.8010-1G>C | |
19 | g.38504219G>T | CA405675342 | RYR1 | c.7927-1G>T (n.7927-1G>T) c.7924-1G>T (n.7924-1G>T) c.1379-1G>T n.8010-1G>T | ClinVar gnomAD v4 |
19 | g.38504220C>A | CA405675344 | RYR1 | c.7927C>A (p.Leu2643Ile) c.7924C>A (p.Leu2642Ile) c.1379C>A n.8010C>A | |
19 | g.38504220C>G | CA405675346 | RYR1 | c.7927C>G (p.Leu2643Val) c.7924C>G (p.Leu2642Val) c.1379C>G n.8010C>G | |
19 | g.38504220C>T | CA405675349 | RYR1 | c.7927C>T (p.Leu2643Phe) c.7924C>T (p.Leu2642Phe) c.1379C>T n.8010C>T | gnomAD v4 |
19 | g.38504221T>A | CA405675354 | RYR1 | c.7928T>A (p.Leu2643His) c.7925T>A (p.Leu2642His) c.1380T>A n.8011T>A | |
19 | g.38504221T>C | CA405675355 | RYR1 | c.7928T>C (p.Leu2643Pro) c.7925T>C (p.Leu2642Pro) c.1380T>C n.8011T>C | |
19 | g.38504221T>G | CA405675353 | RYR1 | c.7928T>G (p.Leu2643Arg) c.7925T>G (p.Leu2642Arg) c.1380T>G n.8011T>G | |
19 | g.38504222C>A | CA507244137 | RYR1 | c.7929C>A (p.Leu2643=) c.7926C>A (p.Leu2642=) c.1381C>A n.8012C>A | |
19 | g.38504222C= | CA2335055570 | RYR1 | c.7929C= (p.Leu2643=) c.7926C= (p.Leu2642=) c.1381C= n.8012C= | |
19 | g.38504222C>G | CA507244138 | RYR1 | c.7929C>G (p.Leu2643=) c.7926C>G (p.Leu2642=) c.1381C>G n.8012C>G | |
19 | g.38504222C>T | CA507244139 | RYR1 | c.7929C>T (p.Leu2643=) c.7926C>T (p.Leu2642=) c.1381C>T n.8012C>T | dbSNP gnomAD v4 COSMIC |
19 | g.38504223C>A | CA405675356 | RYR1 | c.7930C>A (p.Leu2644Ile) c.7927C>A (p.Leu2643Ile) c.1382C>A n.8013C>A | COSMIC |
19 | g.38504223C>G | CA405675357 | RYR1 | c.7930C>G (p.Leu2644Val) c.7927C>G (p.Leu2643Val) c.1382C>G n.8013C>G | |
19 | g.38504223C>T | CA405675359 | RYR1 | c.7930C>T (p.Leu2644Phe) c.7927C>T (p.Leu2643Phe) c.1382C>T n.8013C>T | gnomAD v4 COSMIC |
19 | g.38504224T>A | CA405675362 | RYR1 | c.7931T>A (p.Leu2644His) c.7928T>A (p.Leu2643His) c.1383T>A n.8014T>A | |
19 | g.38504224T>C | CA405675373 | RYR1 | c.7931T>C (p.Leu2644Pro) c.7928T>C (p.Leu2643Pro) c.1383T>C n.8014T>C | |
19 | g.38504224T>G | CA405675375 | RYR1 | c.7931T>G (p.Leu2644Arg) c.7928T>G (p.Leu2643Arg) c.1383T>G n.8014T>G | |
19 | g.38504225C>A | CA507244140 | RYR1 | c.7932C>A (p.Leu2644=) c.7929C>A (p.Leu2643=) c.1384C>A n.8015C>A | |
19 | g.38504225C>G | CA507244141 | RYR1 | c.7932C>G (p.Leu2644=) c.7929C>G (p.Leu2643=) c.1384C>G n.8015C>G | |
19 | g.38504225C>T | CA507244142 | RYR1 | c.7932C>T (p.Leu2644=) c.7929C>T (p.Leu2643=) c.1384C>T n.8015C>T | dbSNP gnomAD v4 |
19 | g.38504226A= | CA2335055571 | RYR1 | c.7933A= (p.Thr2645=) c.7930A= (p.Thr2644=) c.1385A= n.8016A= | |
19 | g.38504226A>C | CA405675379 | RYR1 | c.7933A>C (p.Thr2645Pro) c.7930A>C (p.Thr2644Pro) c.1385A>C n.8016A>C | dbSNP |
19 | g.38504226A>G | CA071134 | RYR1 | c.7933A>G (p.Thr2645Ala) c.7930A>G (p.Thr2644Ala) c.1385A>G n.8016A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38504226A>T | CA405675389 | RYR1 | c.7933A>T (p.Thr2645Ser) c.7930A>T (p.Thr2644Ser) c.1385A>T n.8016A>T | |
19 | g.38504227C>A | CA405675395 | RYR1 | c.7934C>A (p.Thr2645Asn) c.7931C>A (p.Thr2644Asn) c.1386C>A n.8017C>A | |
19 | g.38504227C>G | CA405675397 | RYR1 | c.7934C>G (p.Thr2645Ser) c.7931C>G (p.Thr2644Ser) c.1386C>G n.8017C>G | |
19 | g.38504227C>T | CA405675399 | RYR1 | c.7934C>T (p.Thr2645Ile) c.7931C>T (p.Thr2644Ile) c.1386C>T n.8017C>T | |
19 | g.38504228C>A | CA507244143 | RYR1 | c.7935C>A (p.Thr2645=) c.7932C>A (p.Thr2644=) c.1387C>A n.8018C>A | |
19 | g.38504228C>G | CA507244144 | RYR1 | c.7935C>G (p.Thr2645=) c.7932C>G (p.Thr2644=) c.1387C>G n.8018C>G | |
19 | g.38504228C>T | CA507244145 | RYR1 | c.7935C>T (p.Thr2645=) c.7932C>T (p.Thr2644=) c.1387C>T n.8018C>T | gnomAD v4 |
19 | g.38504229A= | CA2335055572 | RYR1 | c.7936A= (p.Asn2646=) c.7933A= (p.Asn2645=) c.1388A= n.8019A= | |
19 | g.38504229A>C | CA405675407 | RYR1 | c.7936A>C (p.Asn2646His) c.7933A>C (p.Asn2645His) c.1388A>C n.8019A>C | |
19 | g.38504229A>G | CA071140 | RYR1 | c.7936A>G (p.Asn2646Asp) c.7933A>G (p.Asn2645Asp) c.1388A>G n.8019A>G | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.38504229A>T | CA405675403 | RYR1 | c.7936A>T (p.Asn2646Tyr) c.7933A>T (p.Asn2645Tyr) c.1388A>T n.8019A>T | |
19 | g.38504230A>C | CA405675416 | RYR1 | c.7937A>C (p.Asn2646Thr) c.7934A>C (p.Asn2645Thr) c.1389A>C n.8020A>C | gnomAD v4 |
19 | g.38504230A>G | CA405675425 | RYR1 | c.7937A>G (p.Asn2646Ser) c.7934A>G (p.Asn2645Ser) c.1389A>G n.8020A>G | |
19 | g.38504230A>T | CA405675428 | RYR1 | c.7937A>T (p.Asn2646Ile) c.7934A>T (p.Asn2645Ile) c.1389A>T n.8020A>T | |
19 | g.38504231C>A | CA405675431 | RYR1 | c.7938C>A (p.Asn2646Lys) c.7935C>A (p.Asn2645Lys) c.1390C>A n.8021C>A | |
19 | g.38504231C= | CA2335055573 | RYR1 | c.7938C= (p.Asn2646=) c.7935C= (p.Asn2645=) c.1390C= n.8021C= | |
19 | g.38504231C>G | CA405675432 | RYR1 | c.7938C>G (p.Asn2646Lys) c.7935C>G (p.Asn2645Lys) c.1390C>G n.8021C>G | |
19 | g.38504231C>T | CA071145 | RYR1 | c.7938C>T (p.Asn2646=) c.7935C>T (p.Asn2645=) c.1390C>T n.8021C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38504232C>A | CA405675433 | RYR1 | c.7939C>A (p.His2647Asn) c.7936C>A (p.His2646Asn) c.1391C>A n.8022C>A | gnomAD v4 |
19 | g.38504232C>G | CA405675435 | RYR1 | c.7939C>G (p.His2647Asp) c.7936C>G (p.His2646Asp) c.1391C>G n.8022C>G | |
19 | g.38504232C>T | CA405675434 | RYR1 | c.7939C>T (p.His2647Tyr) c.7936C>T (p.His2646Tyr) c.1391C>T n.8022C>T | gnomAD v4 |
19 | g.38504233A>C | CA405675438 | RYR1 | c.7940A>C (p.His2647Pro) c.7937A>C (p.His2646Pro) c.1392A>C n.8023A>C | |
19 | g.38504233A>G | CA405675439 | RYR1 | c.7940A>G (p.His2647Arg) c.7937A>G (p.His2646Arg) c.1392A>G n.8023A>G | |
19 | g.38504233A>T | CA405675440 | RYR1 | c.7940A>T (p.His2647Leu) c.7937A>T (p.His2646Leu) c.1392A>T n.8023A>T | |
19 | g.38504234C>A | CA405675441 | RYR1 | c.7941C>A (p.His2647Gln) c.7938C>A (p.His2646Gln) c.1393C>A n.8024C>A |