Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38502726_38502747del | CA2576771078 | RYR1 | c.7834_7835+20del c.7831_7832+20del c.1286_1287+20del n.7917_7918+20del | gnomAD v4 |
19 | g.38502726_38502748delinsAGGTGGAGCGGGGCAGGCTTCAG | CA2335054452 | RYR1 | c.7834_7835+21delinsAGGTGGAGCGGGGCAGGCTTCAG c.7831_7832+21delinsAGGTGGAGCGGGGCAGGCTTCAG c.1286_1287+21delinsAGGTGGAGCGGGGCAGGCTTCAG n.7917_7918+21delinsAGGTGGAGCGGGGCAGGCTTCAG | |
19 | g.38502731_38502732insGGCGGGGCAGGCTTCAGGGTGG | CA1139666423 | RYR1 | c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG c.7832+4_7832+5insGGCGGGGCAGGCTTCAGGGTGG c.1287+4_1287+5insGGCGGGGCAGGCTTCAGGGTGG n.7918+4_7918+5insGGCGGGGCAGGCTTCAGGGTGG | ClinVar dbSNP |
19 | g.38502732_38502753dup | CA2523901509 | RYR1 | c.7835+5_7835+26dup c.7832+5_7832+26dup c.1287+5_1287+26dup n.7918+5_7918+26dup | ClinVar dbSNP gnomAD v4 |
19 | g.38502732_38502753del | CA9415818 | RYR1 | c.7835+5_7835+26del c.7832+5_7832+26del c.1287+5_1287+26del n.7918+5_7918+26del | dbSNP ExAC |
19 | g.38502729_38502734delinsTGGAGC | CA2335054458 | RYR1 | c.7835+2_7835+7delinsTGGAGC (n.7835+2_7835+7delinsTGGAGC) c.7832+2_7832+7delinsTGGAGC (n.7832+2_7832+7delinsTGGAGC) c.1287+2_1287+7delinsTGGAGC n.7918+2_7918+7delinsTGGAGC | |
19 | g.38502729_38502769delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA | CA2335054457 | RYR1 | c.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7835+2_7835+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA) c.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7832+2_7832+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA) c.1287+2_1287+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA n.7918+2_7918+42delinsTGGAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA | |
19 | g.38502731_38502732insGGCGG | CA070443 | RYR1 | c.7835+4_7835+5insGGCGG (n.7835+4_7835+5insGGCGG) c.7832+4_7832+5insGGCGG (n.7832+4_7832+5insGGCGG) c.1287+4_1287+5insGGCGG n.7918+4_7918+5insGGCGG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502731dup | CA2335054461 | RYR1 | c.7835+4dup (n.7835+4dup) c.7832+4dup (n.7832+4dup) c.1287+4dup n.7918+4dup | dbSNP gnomAD v4 |
19 | g.38502732_38502736del | CA633066203 | RYR1 | c.7835+5_7835+9del (n.7835+5_7835+9del) c.7832+5_7832+9del (n.7832+5_7832+9del) c.1287+5_1287+9del n.7918+5_7918+9del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502730_38502746dup | CA920105547 | RYR1 | c.7835+3_7835+19dup (n.7835+3_7835+19dup) c.7832+3_7832+19dup (n.7832+3_7832+19dup) c.1287+3_1287+19dup n.7918+3_7918+19dup | ClinVar dbSNP gnomAD v4 |
19 | g.38502730_38502747delinsGGAGCGGGGCAGGCTTCA | CA2335054459 | RYR1 | c.7835+3_7835+20delinsGGAGCGGGGCAGGCTTCA (n.7835+3_7835+20delinsGGAGCGGGGCAGGCTTCA) c.7832+3_7832+20delinsGGAGCGGGGCAGGCTTCA (n.7832+3_7832+20delinsGGAGCGGGGCAGGCTTCA) c.1287+3_1287+20delinsGGAGCGGGGCAGGCTTCA n.7918+3_7918+20delinsGGAGCGGGGCAGGCTTCA | |
19 | g.38502732_38502771del | CA633066204 | RYR1 | c.7835+5_7835+44del (n.7835+5_7835+44del) c.7832+5_7832+44del (n.7832+5_7832+44del) c.1287+5_1287+44del n.7918+5_7918+44del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502731G>A | CA9415821 | RYR1 | c.7835+4G>A (n.7835+4G>A) c.7832+4G>A (n.7832+4G>A) c.1287+4G>A n.7918+4G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502731G= | CA2335054464 | RYR1 | c.7835+4G= (n.7835+4G=) c.7832+4G= (n.7832+4G=) c.1287+4G= n.7918+4G= | |
19 | g.38502731G>T | CA2584900605 | RYR1 | c.7835+4G>T (n.7835+4G>T) c.7832+4G>T (n.7832+4G>T) c.1287+4G>T n.7918+4G>T | gnomAD v4 |
19 | g.38502731_38502732delinsAG | CA2499225470 | RYR1 | c.7835+4_7835+5delinsAG (n.7835+4_7835+5delinsAG) c.7832+4_7832+5delinsAG (n.7832+4_7832+5delinsAG) c.1287+4_1287+5delinsAG n.7918+4_7918+5delinsAG | ClinVar dbSNP |
19 | g.38502731_38502734delinsGAGC | CA2335054463 | RYR1 | c.7835+4_7835+7delinsGAGC (n.7835+4_7835+7delinsGAGC) c.7832+4_7832+7delinsGAGC (n.7832+4_7832+7delinsGAGC) c.1287+4_1287+7delinsGAGC n.7918+4_7918+7delinsGAGC | |
19 | g.38502732_38502748dup | CA2584900604 | RYR1 | c.7835+5_7835+21dup (n.7835+5_7835+21dup) c.7832+5_7832+21dup (n.7832+5_7832+21dup) c.1287+5_1287+21dup n.7918+5_7918+21dup | ClinVar gnomAD v4 |
19 | g.38502732_38502748del | CA2335054462 | RYR1 | c.7835+5_7835+21del (n.7835+5_7835+21del) c.7832+5_7832+21del (n.7832+5_7832+21del) c.1287+5_1287+21del n.7918+5_7918+21del | dbSNP |
19 | g.38502731_38502732insGGCGGGGC | CA9415820 | RYR1 | c.7835+4_7835+5insGGCGGGGC (n.7835+4_7835+5insGGCGGGGC) c.7832+4_7832+5insGGCGGGGC (n.7832+4_7832+5insGGCGGGGC) c.1287+4_1287+5insGGCGGGGC n.7918+4_7918+5insGGCGGGGC | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502732A= | CA2335054467 | RYR1 | c.7835+5A= (n.7835+5A=) c.7832+5A= (n.7832+5A=) c.1287+5A= n.7918+5A= | |
19 | g.38502732A>C | CA2581382505 | RYR1 | c.7835+5A>C (n.7835+5A>C) c.7832+5A>C (n.7832+5A>C) c.1287+5A>C n.7918+5A>C | |
19 | g.38502732A>G | CA024854 | RYR1 | c.7835+5A>G (n.7835+5A>G) c.7832+5A>G (n.7832+5A>G) c.1287+5A>G n.7918+5A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502732A>T | CA2581382506 | RYR1 | c.7835+5A>T (n.7835+5A>T) c.7832+5A>T (n.7832+5A>T) c.1287+5A>T n.7918+5A>T | gnomAD v4 |
19 | g.38502732_38502734del | CA9415819 | RYR1 | c.7835+5_7835+7del (n.7835+5_7835+7del) c.7832+5_7832+7del (n.7832+5_7832+7del) c.1287+5_1287+7del n.7918+5_7918+7del | dbSNP ExAC |
19 | g.38502732_38502763delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA | CA2335054466 | RYR1 | c.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA (n.7835+5_7835+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA) c.7832+5_7832+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA (n.7832+5_7832+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA) c.1287+5_1287+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA n.7918+5_7918+36delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA | |
19 | g.38502732_38502766delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG | CA2335054465 | RYR1 | c.7835+5_7835+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG (n.7835+5_7835+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG) c.7832+5_7832+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG (n.7832+5_7832+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG) c.1287+5_1287+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG n.7918+5_7918+39delinsAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGG | |
19 | g.38502733G>A | CA2584900608 | RYR1 | c.7835+6G>A (n.7835+6G>A) c.7832+6G>A (n.7832+6G>A) c.1287+6G>A n.7918+6G>A | gnomAD v4 |
19 | g.38502733G>C | CA2584900609 | RYR1 | c.7835+6G>C (n.7835+6G>C) c.7832+6G>C (n.7832+6G>C) c.1287+6G>C n.7918+6G>C | gnomAD v4 |
19 | g.38502733G>T | CA2584900610 | RYR1 | c.7835+6G>T (n.7835+6G>T) c.7832+6G>T (n.7832+6G>T) c.1287+6G>T n.7918+6G>T | ClinVar gnomAD v4 |
19 | g.38502733_38502734insGCGGGGCG | CA2825002789 | RYR1 | c.7835+6_7835+7insGCGGGGCG (n.7835+6_7835+7insGCGGGGCG) c.7832+6_7832+7insGCGGGGCG (n.7832+6_7832+7insGCGGGGCG) c.1287+6_1287+7insGCGGGGCG n.7918+6_7918+7insGCGGGGCG | ClinVar |
19 | g.38502733_38502734insGCTTCGGGG | CA2584900607 | RYR1 | c.7835+6_7835+7insGCTTCGGGG (n.7835+6_7835+7insGCTTCGGGG) c.7832+6_7832+7insGCTTCGGGG (n.7832+6_7832+7insGCTTCGGGG) c.1287+6_1287+7insGCTTCGGGG n.7918+6_7918+7insGCTTCGGGG | gnomAD v4 |
19 | g.38502733_38502734insGCTTTGGGG | CA2584900606 | RYR1 | c.7835+6_7835+7insGCTTTGGGG (n.7835+6_7835+7insGCTTTGGGG) c.7832+6_7832+7insGCTTTGGGG (n.7832+6_7832+7insGCTTTGGGG) c.1287+6_1287+7insGCTTTGGGG n.7918+6_7918+7insGCTTTGGGG | gnomAD v4 |
19 | g.38502733_38502734insGCTTCAGGGTGGGG | CA9415822 | RYR1 | c.7835+6_7835+7insGCTTCAGGGTGGGG (n.7835+6_7835+7insGCTTCAGGGTGGGG) c.7832+6_7832+7insGCTTCAGGGTGGGG (n.7832+6_7832+7insGCTTCAGGGTGGGG) c.1287+6_1287+7insGCTTCAGGGTGGGG n.7918+6_7918+7insGCTTCAGGGTGGGG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502733_38502763delinsAGC | CA658658809 | RYR1 | c.7835+6_7835+36delinsAGC (n.7835+6_7835+36delinsAGC) c.7832+6_7832+36delinsAGC (n.7832+6_7832+36delinsAGC) c.1287+6_1287+36delinsAGC n.7918+6_7918+36delinsAGC | ClinVar dbSNP |
19 | g.38502735_38502768del | CA882053907 | RYR1 | c.7835+8_7835+41del (n.7835+8_7835+41del) c.7832+8_7832+41del (n.7832+8_7832+41del) c.1287+8_1287+41del n.7918+8_7918+41del | dbSNP |
19 | g.38502734del | CA2584900611 | RYR1 | c.7835+7del (n.7835+7del) c.7832+7del (n.7832+7del) c.1287+7del n.7918+7del | gnomAD v4 |
19 | g.38502734C>A | CA2581382507 | RYR1 | c.7835+7C>A (n.7835+7C>A) c.7832+7C>A (n.7832+7C>A) c.1287+7C>A n.7918+7C>A | ClinVar gnomAD v4 |
19 | g.38502734C= | CA2335054468 | RYR1 | c.7835+7C= (n.7835+7C=) c.7832+7C= (n.7832+7C=) c.1287+7C= n.7918+7C= | |
19 | g.38502734C>G | CA070549 | RYR1 | c.7835+7C>G (n.7835+7C>G) c.7832+7C>G (n.7832+7C>G) c.1287+7C>G n.7918+7C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502734C>T | CA024857 | RYR1 | c.7835+7C>T (n.7835+7C>T) c.7832+7C>T (n.7832+7C>T) c.1287+7C>T n.7918+7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502734_38502743del | CA2584900612 | RYR1 | c.7835+7_7835+16del (n.7835+7_7835+16del) c.7832+7_7832+16del (n.7832+7_7832+16del) c.1287+7_1287+16del n.7918+7_7918+16del | gnomAD v4 |
19 | g.38502734_38502751delinsCGGGGCAGGCTTCAGGGT | CA2335054470 | RYR1 | c.7835+7_7835+24delinsCGGGGCAGGCTTCAGGGT (n.7835+7_7835+24delinsCGGGGCAGGCTTCAGGGT) c.7832+7_7832+24delinsCGGGGCAGGCTTCAGGGT (n.7832+7_7832+24delinsCGGGGCAGGCTTCAGGGT) c.1287+7_1287+24delinsCGGGGCAGGCTTCAGGGT n.7918+7_7918+24delinsCGGGGCAGGCTTCAGGGT | |
19 | g.38502734_38502763delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA | CA2335054471 | RYR1 | c.7835+7_7835+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA (n.7835+7_7835+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA) c.7832+7_7832+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA (n.7832+7_7832+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA) c.1287+7_1287+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA n.7918+7_7918+36delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCA | |
19 | g.38502734_38502769delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA | CA2335054469 | RYR1 | c.7835+7_7835+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7835+7_7835+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA) c.7832+7_7832+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA (n.7832+7_7832+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA) c.1287+7_1287+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA n.7918+7_7918+42delinsCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCA | |
19 | g.38502734_38502816del | CA9415823 | RYR1 | c.7835+7_7836-64del (n.7835+7_7836-64del) c.7832+7_7833-64del (n.7832+7_7833-64del) c.1287+7_1288-64del n.7918+7_7919-64del | ExAC |
19 | g.38502734_38502735insA | CA882053909 | RYR1 | c.7835+7_7835+8insA (n.7835+7_7835+8insA) c.7832+7_7832+8insA (n.7832+7_7832+8insA) c.1287+7_1287+8insA n.7918+7_7918+8insA | dbSNP gnomAD v4 |
19 | g.38502735G>A | CA070555 | RYR1 | c.7835+8G>A (n.7835+8G>A) c.7832+8G>A (n.7832+8G>A) c.1287+8G>A n.7918+8G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502735G>C | CA2584900614 | RYR1 | c.7835+8G>C (n.7835+8G>C) c.7832+8G>C (n.7832+8G>C) c.1287+8G>C n.7918+8G>C | ClinVar gnomAD v4 |
19 | g.38502735G= | CA2335054472 | RYR1 | c.7835+8G= (n.7835+8G=) c.7832+8G= (n.7832+8G=) c.1287+8G= n.7918+8G= | |
19 | g.38502735G>T | CA2584900615 | RYR1 | c.7835+8G>T (n.7835+8G>T) c.7832+8G>T (n.7832+8G>T) c.1287+8G>T n.7918+8G>T | gnomAD v4 |
19 | g.38502738dup | CA2335054473 | RYR1 | c.7835+11dup (n.7835+11dup) c.7832+11dup (n.7832+11dup) c.1287+11dup n.7918+11dup | ClinVar dbSNP |
19 | g.38502738del | CA2576771086 | RYR1 | c.7835+11del (n.7835+11del) c.7832+11del (n.7832+11del) c.1287+11del n.7918+11del | gnomAD v4 |
19 | g.38502743_38502759dup | CA633066206 | RYR1 | c.7835+16_7835+32dup (n.7835+16_7835+32dup) c.7832+16_7832+32dup (n.7832+16_7832+32dup) c.1287+16_1287+32dup n.7918+16_7918+32dup | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502743_38502759del | CA633066207 | RYR1 | c.7835+16_7835+32del (n.7835+16_7835+32del) c.7832+16_7832+32del (n.7832+16_7832+32del) c.1287+16_1287+32del n.7918+16_7918+32del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502743_38502765dup | CA2838819026 | RYR1 | c.7835+16_7835+38dup (n.7835+16_7835+38dup) c.7832+16_7832+38dup (n.7832+16_7832+38dup) c.1287+16_1287+38dup n.7918+16_7918+38dup | |
19 | g.38502743_38502771del | CA882053910 | RYR1 | c.7835+16_7835+44del (n.7835+16_7835+44del) c.7832+16_7832+44del (n.7832+16_7832+44del) c.1287+16_1287+44del n.7918+16_7918+44del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502743_38502777del | CA633066205 | RYR1 | c.7835+16_7835+50del (n.7835+16_7835+50del) c.7832+16_7832+50del (n.7832+16_7832+50del) c.1287+16_1287+50del n.7918+16_7918+50del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502743_38502783del | CA2584900613 | RYR1 | c.7835+16_7835+56del (n.7835+16_7835+56del) c.7832+16_7832+56del (n.7832+16_7832+56del) c.1287+16_1287+56del n.7918+16_7918+56del | gnomAD v4 |
19 | g.38502736G>A | CA9415825 | RYR1 | c.7835+9G>A (n.7835+9G>A) c.7832+9G>A (n.7832+9G>A) c.1287+9G>A n.7918+9G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502736G>C | CA2335054475 | RYR1 | c.7835+9G>C (n.7835+9G>C) c.7832+9G>C (n.7832+9G>C) c.1287+9G>C n.7918+9G>C | ClinVar dbSNP |
19 | g.38502736G= | CA2335054474 | RYR1 | c.7835+9G= (n.7835+9G=) c.7832+9G= (n.7832+9G=) c.1287+9G= n.7918+9G= | |
19 | g.38502736G>T | CA882053915 | RYR1 | c.7835+9G>T (n.7835+9G>T) c.7832+9G>T (n.7832+9G>T) c.1287+9G>T n.7918+9G>T | dbSNP |
19 | g.38502738_38502742dup | CA920105553 | RYR1 | c.7835+11_7835+15dup (n.7835+11_7835+15dup) c.7832+11_7832+15dup (n.7832+11_7832+15dup) c.1287+11_1287+15dup n.7918+11_7918+15dup | dbSNP |
19 | g.38502739_38502754del | CA2584900616 | RYR1 | c.7835+12_7835+27del (n.7835+12_7835+27del) c.7832+12_7832+27del (n.7832+12_7832+27del) c.1287+12_1287+27del n.7918+12_7918+27del | gnomAD v4 |
19 | g.38502737G>A | CA070369 | RYR1 | c.7835+10G>A (n.7835+10G>A) c.7832+10G>A (n.7832+10G>A) c.1287+10G>A n.7918+10G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502737G>C | CA2584900617 | RYR1 | c.7835+10G>C (n.7835+10G>C) c.7832+10G>C (n.7832+10G>C) c.1287+10G>C n.7918+10G>C | gnomAD v4 |
19 | g.38502737G= | CA2335054476 | RYR1 | c.7835+10G= (n.7835+10G=) c.7832+10G= (n.7832+10G=) c.1287+10G= n.7918+10G= | |
19 | g.38502737G>T | CA2576771087 | RYR1 | c.7835+10G>T (n.7835+10G>T) c.7832+10G>T (n.7832+10G>T) c.1287+10G>T n.7918+10G>T | |
19 | g.38502737_38502816del | CA9415824 | RYR1 | c.7835+10_7836-64del (n.7835+10_7836-64del) c.7832+10_7833-64del (n.7832+10_7833-64del) c.1287+10_1288-64del n.7918+10_7919-64del | ExAC |
19 | g.38502738G>A | CA2576771088 | RYR1 | c.7835+11G>A (n.7835+11G>A) c.7832+11G>A (n.7832+11G>A) c.1287+11G>A n.7918+11G>A | ClinVar gnomAD v4 |
19 | g.38502738G>C | CA633066208 | RYR1 | c.7835+11G>C (n.7835+11G>C) c.7832+11G>C (n.7832+11G>C) c.1287+11G>C n.7918+11G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502738G= | CA2335054477 | RYR1 | c.7835+11G= (n.7835+11G=) c.7832+11G= (n.7832+11G=) c.1287+11G= n.7918+11G= | |
19 | g.38502738G>T | CA2584900618 | RYR1 | c.7835+11G>T (n.7835+11G>T) c.7832+11G>T (n.7832+11G>T) c.1287+11G>T n.7918+11G>T | gnomAD v4 |
19 | g.38502738_38502744dup | CA2697556556 | RYR1 | c.7835+11_7835+17dup (n.7835+11_7835+17dup) c.7832+11_7832+17dup (n.7832+11_7832+17dup) c.1287+11_1287+17dup n.7918+11_7918+17dup | ClinVar |
19 | g.38502739C>A | CA658799198 | RYR1 | c.7835+12C>A (n.7835+12C>A) c.7832+12C>A (n.7832+12C>A) c.1287+12C>A n.7918+12C>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502739C= | CA2335054478 | RYR1 | c.7835+12C= (n.7835+12C=) c.7832+12C= (n.7832+12C=) c.1287+12C= n.7918+12C= | |
19 | g.38502739C>G | CA070373 | RYR1 | c.7835+12C>G (n.7835+12C>G) c.7832+12C>G (n.7832+12C>G) c.1287+12C>G n.7918+12C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502739C>T | CA070375 | RYR1 | c.7835+12C>T (n.7835+12C>T) c.7832+12C>T (n.7832+12C>T) c.1287+12C>T n.7918+12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502739_38502751delinsCAGGCTTCAGGGT | CA2335054479 | RYR1 | c.7835+12_7835+24delinsCAGGCTTCAGGGT (n.7835+12_7835+24delinsCAGGCTTCAGGGT) c.7832+12_7832+24delinsCAGGCTTCAGGGT (n.7832+12_7832+24delinsCAGGCTTCAGGGT) c.1287+12_1287+24delinsCAGGCTTCAGGGT n.7918+12_7918+24delinsCAGGCTTCAGGGT | |
19 | g.38502740A= | CA2335054481 | RYR1 | c.7835+13A= (n.7835+13A=) c.7832+13A= (n.7832+13A=) c.1287+13A= n.7918+13A= | |
19 | g.38502740A>C | CA633066210 | RYR1 | c.7835+13A>C (n.7835+13A>C) c.7832+13A>C (n.7832+13A>C) c.1287+13A>C n.7918+13A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502740A>G | CA2543878801 | RYR1 | c.7835+13A>G (n.7835+13A>G) c.7832+13A>G (n.7832+13A>G) c.1287+13A>G n.7918+13A>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502740_38502751del | CA633066209 | RYR1 | c.7835+13_7835+24del (n.7835+13_7835+24del) c.7832+13_7832+24del (n.7832+13_7832+24del) c.1287+13_1287+24del n.7918+13_7918+24del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502740_38502751delinsAGGCTTCAGGGT | CA2335054480 | RYR1 | c.7835+13_7835+24delinsAGGCTTCAGGGT (n.7835+13_7835+24delinsAGGCTTCAGGGT) c.7832+13_7832+24delinsAGGCTTCAGGGT (n.7832+13_7832+24delinsAGGCTTCAGGGT) c.1287+13_1287+24delinsAGGCTTCAGGGT n.7918+13_7918+24delinsAGGCTTCAGGGT | |
19 | g.38502740_38502793del | CA2814346922 | RYR1 | c.7835+13_7835+66del (n.7835+13_7835+66del) c.7832+13_7832+66del (n.7832+13_7832+66del) c.1287+13_1287+66del n.7918+13_7918+66del | |
19 | g.38502741G>A | CA2554350659 | RYR1 | c.7835+14G>A (n.7835+14G>A) c.7832+14G>A (n.7832+14G>A) c.1287+14G>A n.7918+14G>A | gnomAD v4 |
19 | g.38502741G>C | CA070384 | RYR1 | c.7835+14G>C (n.7835+14G>C) c.7832+14G>C (n.7832+14G>C) c.1287+14G>C n.7918+14G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502741G= | CA2335054482 | RYR1 | c.7835+14G= (n.7835+14G=) c.7832+14G= (n.7832+14G=) c.1287+14G= n.7918+14G= | |
19 | g.38502741G>T | CA882053922 | RYR1 | c.7835+14G>T (n.7835+14G>T) c.7832+14G>T (n.7832+14G>T) c.1287+14G>T n.7918+14G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502741_38502742dup | CA2584900619 | RYR1 | c.7835+14_7835+15dup (n.7835+14_7835+15dup) c.7832+14_7832+15dup (n.7832+14_7832+15dup) c.1287+14_1287+15dup n.7918+14_7918+15dup | gnomAD v4 |
19 | g.38502743_38502753del | CA070380 | RYR1 | c.7835+16_7835+26del (n.7835+16_7835+26del) c.7832+16_7832+26del (n.7832+16_7832+26del) c.1287+16_1287+26del n.7918+16_7918+26del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502742G>A | CA507353958 | RYR1 | c.7835+15G>A (n.7835+15G>A) c.7832+15G>A (n.7832+15G>A) c.1287+15G>A n.7918+15G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502742G>C | CA882053923 | RYR1 | c.7835+15G>C (n.7835+15G>C) c.7832+15G>C (n.7832+15G>C) c.1287+15G>C n.7918+15G>C | dbSNP |
19 | g.38502742G= | CA2335054484 | RYR1 | c.7835+15G= (n.7835+15G=) c.7832+15G= (n.7832+15G=) c.1287+15G= n.7918+15G= | |
19 | g.38502742_38502745delinsGCTT | CA2335054485 | RYR1 | c.7835+15_7835+18delinsGCTT (n.7835+15_7835+18delinsGCTT) c.7832+15_7832+18delinsGCTT (n.7832+15_7832+18delinsGCTT) c.1287+15_1287+18delinsGCTT n.7918+15_7918+18delinsGCTT | |
19 | g.38502742_38502747delinsGCTTCA | CA2335054483 | RYR1 | c.7835+15_7835+20delinsGCTTCA (n.7835+15_7835+20delinsGCTTCA) c.7832+15_7832+20delinsGCTTCA (n.7832+15_7832+20delinsGCTTCA) c.1287+15_1287+20delinsGCTTCA n.7918+15_7918+20delinsGCTTCA | |
19 | g.38502743del | CA2580097216 | RYR1 | c.7835+16del (n.7835+16del) c.7832+16del (n.7832+16del) c.1287+16del n.7918+16del | ClinVar |
19 | g.38502743C>A | CA882053928 | RYR1 | c.7835+16C>A (n.7835+16C>A) c.7832+16C>A (n.7832+16C>A) c.1287+16C>A n.7918+16C>A | dbSNP gnomAD v4 |
19 | g.38502743C= | CA2335054486 | RYR1 | c.7835+16C= (n.7835+16C=) c.7832+16C= (n.7832+16C=) c.1287+16C= n.7918+16C= | |
19 | g.38502743C>T | CA070389 | RYR1 | c.7835+16C>T (n.7835+16C>T) c.7832+16C>T (n.7832+16C>T) c.1287+16C>T n.7918+16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502744_38502746del | CA2335054487 | RYR1 | c.7835+17_7835+19del (n.7835+17_7835+19del) c.7832+17_7832+19del (n.7832+17_7832+19del) c.1287+17_1287+19del n.7918+17_7918+19del | dbSNP gnomAD v4 |
19 | g.38502743_38502747del | CA070387 | RYR1 | c.7835+16_7835+20del (n.7835+16_7835+20del) c.7832+16_7832+20del (n.7832+16_7832+20del) c.1287+16_1287+20del n.7918+16_7918+20del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502744T>C | CA070393 | RYR1 | c.7835+17T>C (n.7835+17T>C) c.7832+17T>C (n.7832+17T>C) c.1287+17T>C n.7918+17T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502744T>G | CA995717336 | RYR1 | c.7835+17T>G (n.7835+17T>G) c.7832+17T>G (n.7832+17T>G) c.1287+17T>G n.7918+17T>G | ClinVar gnomAD v3 gnomAD v4 |
19 | g.38502744T= | CA2335054488 | RYR1 | c.7835+17T= (n.7835+17T=) c.7832+17T= (n.7832+17T=) c.1287+17T= n.7918+17T= | |
19 | g.38502745T>A | CA2576771089 | RYR1 | c.7835+18T>A (n.7835+18T>A) c.7832+18T>A (n.7832+18T>A) c.1287+18T>A n.7918+18T>A | |
19 | g.38502745T>C | CA2584900620 | RYR1 | c.7835+18T>C (n.7835+18T>C) c.7832+18T>C (n.7832+18T>C) c.1287+18T>C n.7918+18T>C | dbSNP gnomAD v4 |
19 | g.38502745T>G | CA882053930 | RYR1 | c.7835+18T>G (n.7835+18T>G) c.7832+18T>G (n.7832+18T>G) c.1287+18T>G n.7918+18T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502745T= | CA2335054489 | RYR1 | c.7835+18T= (n.7835+18T=) c.7832+18T= (n.7832+18T=) c.1287+18T= n.7918+18T= | |
19 | g.38502745_38502769del | CA2584900621 | RYR1 | c.7835+18_7835+42del (n.7835+18_7835+42del) c.7832+18_7832+42del (n.7832+18_7832+42del) c.1287+18_1287+42del n.7918+18_7918+42del | gnomAD v4 |
19 | g.38502745_38502746insGG | CA2335054490 | RYR1 | c.7835+18_7835+19insGG (n.7835+18_7835+19insGG) c.7832+18_7832+19insGG (n.7832+18_7832+19insGG) c.1287+18_1287+19insGG n.7918+18_7918+19insGG | dbSNP |
19 | g.38502746C>A | CA2584900622 | RYR1 | c.7835+19C>A (n.7835+19C>A) c.7832+19C>A (n.7832+19C>A) c.1287+19C>A n.7918+19C>A | gnomAD v4 |
19 | g.38502746C= | CA2335054491 | RYR1 | c.7835+19C= (n.7835+19C=) c.7832+19C= (n.7832+19C=) c.1287+19C= n.7918+19C= | |
19 | g.38502746C>G | CA2584900623 | RYR1 | c.7835+19C>G (n.7835+19C>G) c.7832+19C>G (n.7832+19C>G) c.1287+19C>G n.7918+19C>G | gnomAD v4 |
19 | g.38502746C>T | CA2576771090 | RYR1 | c.7835+19C>T (n.7835+19C>T) c.7832+19C>T (n.7832+19C>T) c.1287+19C>T n.7918+19C>T | gnomAD v4 |
19 | g.38502746_38502747insGG | CA995717341 | RYR1 | c.7835+19_7835+20insGG (n.7835+19_7835+20insGG) c.7832+19_7832+20insGG (n.7832+19_7832+20insGG) c.1287+19_1287+20insGG n.7918+19_7918+20insGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502747A= | CA2335054492 | RYR1 | c.7835+20A= (n.7835+20A=) c.7832+20A= (n.7832+20A=) c.1287+20A= n.7918+20A= | |
19 | g.38502747A>G | CA070400 | RYR1 | c.7835+20A>G (n.7835+20A>G) c.7832+20A>G (n.7832+20A>G) c.1287+20A>G n.7918+20A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502747A>T | CA2576771091 | RYR1 | c.7835+20A>T (n.7835+20A>T) c.7832+20A>T (n.7832+20A>T) c.1287+20A>T n.7918+20A>T | gnomAD v4 |
19 | g.38502747_38502751del | CA2584900624 | RYR1 | c.7835+20_7835+24del (n.7835+20_7835+24del) c.7832+20_7832+24del (n.7832+20_7832+24del) c.1287+20_1287+24del n.7918+20_7918+24del | gnomAD v4 |
19 | g.38502747_38502751delinsAGGGT | CA2335054493 | RYR1 | c.7835+20_7835+24delinsAGGGT (n.7835+20_7835+24delinsAGGGT) c.7832+20_7832+24delinsAGGGT (n.7832+20_7832+24delinsAGGGT) c.1287+20_1287+24delinsAGGGT n.7918+20_7918+24delinsAGGGT | |
19 | g.38502747_38502752dup | CA070395 | RYR1 | c.7835+20_7835+25dup (n.7835+20_7835+25dup) c.7832+20_7832+25dup (n.7832+20_7832+25dup) c.1287+20_1287+25dup n.7918+20_7918+25dup | dbSNP ExAC gnomAD v4 |
19 | g.38502748G>A | CA070404 | RYR1 | c.7835+21G>A (n.7835+21G>A) c.7832+21G>A (n.7832+21G>A) c.1287+21G>A n.7918+21G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502748G>C | CA633066212 | RYR1 | c.7835+21G>C (n.7835+21G>C) c.7832+21G>C (n.7832+21G>C) c.1287+21G>C n.7918+21G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502748G= | CA2335054494 | RYR1 | c.7835+21G= (n.7835+21G=) c.7832+21G= (n.7832+21G=) c.1287+21G= n.7918+21G= | |
19 | g.38502751_38502754del | CA633066211 | RYR1 | c.7835+24_7835+27del (n.7835+24_7835+27del) c.7832+24_7832+27del (n.7832+24_7832+27del) c.1287+24_1287+27del n.7918+24_7918+27del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502750_38502755dup | CA9415826 | RYR1 | c.7835+23_7835+28dup (n.7835+23_7835+28dup) c.7832+23_7832+28dup (n.7832+23_7832+28dup) c.1287+23_1287+28dup n.7918+23_7918+28dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502751_38502809del | CA995717359 | RYR1 | c.7835+24_7836-71del (n.7835+24_7836-71del) c.7832+24_7833-71del (n.7832+24_7833-71del) c.1287+24_1288-71del n.7918+24_7919-71del | gnomAD v3 gnomAD v4 |
19 | g.38502751_38502810del | CA995717362 | RYR1 | c.7835+24_7836-70del (n.7835+24_7836-70del) c.7832+24_7833-70del (n.7832+24_7833-70del) c.1287+24_1288-70del n.7918+24_7919-70del | gnomAD v3 gnomAD v4 |
19 | g.38502748_38502749insAGT | CA995717369 | RYR1 | c.7835+21_7835+22insAGT (n.7835+21_7835+22insAGT) c.7832+21_7832+22insAGT (n.7832+21_7832+22insAGT) c.1287+21_1287+22insAGT n.7918+21_7918+22insAGT | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502748_38502749insCGGGGCAGGCTTCA | CA995717372 | RYR1 | c.7835+21_7835+22insCGGGGCAGGCTTCA (n.7835+21_7835+22insCGGGGCAGGCTTCA) c.7832+21_7832+22insCGGGGCAGGCTTCA (n.7832+21_7832+22insCGGGGCAGGCTTCA) c.1287+21_1287+22insCGGGGCAGGCTTCA n.7918+21_7918+22insCGGGGCAGGCTTCA | gnomAD v3 gnomAD v4 |
19 | g.38502749G>A | CA070407 | RYR1 | c.7835+22G>A (n.7835+22G>A) c.7832+22G>A (n.7832+22G>A) c.1287+22G>A n.7918+22G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502749G= | CA2335054495 | RYR1 | c.7835+22G= (n.7835+22G=) c.7832+22G= (n.7832+22G=) c.1287+22G= n.7918+22G= | |
19 | g.38502749G>T | CA2838351594 | RYR1 | c.7835+22G>T (n.7835+22G>T) c.7832+22G>T (n.7832+22G>T) c.1287+22G>T n.7918+22G>T | |
19 | g.38502749_38502750insCA | CA2584900625 | RYR1 | c.7835+22_7835+23insCA (n.7835+22_7835+23insCA) c.7832+22_7832+23insCA (n.7832+22_7832+23insCA) c.1287+22_1287+23insCA n.7918+22_7918+23insCA | gnomAD v4 |
19 | g.38502750G>A | CA308112503 | RYR1 | c.7835+23G>A (n.7835+23G>A) c.7832+23G>A (n.7832+23G>A) c.1287+23G>A n.7918+23G>A | dbSNP gnomAD v4 |
19 | g.38502750G>C | CA9415828 | RYR1 | c.7835+23G>C (n.7835+23G>C) c.7832+23G>C (n.7832+23G>C) c.1287+23G>C n.7918+23G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502750G= | CA2335054496 | RYR1 | c.7835+23G= (n.7835+23G=) c.7832+23G= (n.7832+23G=) c.1287+23G= n.7918+23G= | |
19 | g.38502750G>T | CA633066213 | RYR1 | c.7835+23G>T (n.7835+23G>T) c.7832+23G>T (n.7832+23G>T) c.1287+23G>T n.7918+23G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502750_38502768delinsGTGGGGCAGGGGCAGGGGC | CA2335054497 | RYR1 | c.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC (n.7835+23_7835+41delinsGTGGGGCAGGGGCAGGGGC) c.7832+23_7832+41delinsGTGGGGCAGGGGCAGGGGC (n.7832+23_7832+41delinsGTGGGGCAGGGGCAGGGGC) c.1287+23_1287+41delinsGTGGGGCAGGGGCAGGGGC n.7918+23_7918+41delinsGTGGGGCAGGGGCAGGGGC | |
19 | g.38502750_38502751insGC | CA995717426 | RYR1 | c.7835+23_7835+24insGC (n.7835+23_7835+24insGC) c.7832+23_7832+24insGC (n.7832+23_7832+24insGC) c.1287+23_1287+24insGC n.7918+23_7918+24insGC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502750_38502751insGGC | CA2584900631 | RYR1 | c.7835+23_7835+24insGGC (n.7835+23_7835+24insGGC) c.7832+23_7832+24insGGC (n.7832+23_7832+24insGGC) c.1287+23_1287+24insGGC n.7918+23_7918+24insGGC | gnomAD v4 |
19 | g.38502750_38502751insGGGC | CA2584900632 | RYR1 | c.7835+23_7835+24insGGGC (n.7835+23_7835+24insGGGC) c.7832+23_7832+24insGGGC (n.7832+23_7832+24insGGGC) c.1287+23_1287+24insGGGC n.7918+23_7918+24insGGGC | gnomAD v4 |
19 | g.38502750_38502751insGGGGGC | CA2584900629 | RYR1 | c.7835+23_7835+24insGGGGGC (n.7835+23_7835+24insGGGGGC) c.7832+23_7832+24insGGGGGC (n.7832+23_7832+24insGGGGGC) c.1287+23_1287+24insGGGGGC n.7918+23_7918+24insGGGGGC | gnomAD v4 |
19 | g.38502750_38502751insGCAGGGGC | CA2584900630 | RYR1 | c.7835+23_7835+24insGCAGGGGC (n.7835+23_7835+24insGCAGGGGC) c.7832+23_7832+24insGCAGGGGC (n.7832+23_7832+24insGCAGGGGC) c.1287+23_1287+24insGCAGGGGC n.7918+23_7918+24insGCAGGGGC | gnomAD v4 |
19 | g.38502750_38502751insGGCTGGGGC | CA995717422 | RYR1 | c.7835+23_7835+24insGGCTGGGGC (n.7835+23_7835+24insGGCTGGGGC) c.7832+23_7832+24insGGCTGGGGC (n.7832+23_7832+24insGGCTGGGGC) c.1287+23_1287+24insGGCTGGGGC n.7918+23_7918+24insGGCTGGGGC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502750_38502751insGGGCAGGGGC | CA2584900628 | RYR1 | c.7835+23_7835+24insGGGCAGGGGC (n.7835+23_7835+24insGGGCAGGGGC) c.7832+23_7832+24insGGGCAGGGGC (n.7832+23_7832+24insGGGCAGGGGC) c.1287+23_1287+24insGGGCAGGGGC n.7918+23_7918+24insGGGCAGGGGC | gnomAD v4 |
19 | g.38502750_38502751insGCAGGGGCAGGGGC | CA2584900626 | RYR1 | c.7835+23_7835+24insGCAGGGGCAGGGGC (n.7835+23_7835+24insGCAGGGGCAGGGGC) c.7832+23_7832+24insGCAGGGGCAGGGGC (n.7832+23_7832+24insGCAGGGGCAGGGGC) c.1287+23_1287+24insGCAGGGGCAGGGGC n.7918+23_7918+24insGCAGGGGCAGGGGC | gnomAD v4 |
19 | g.38502750_38502751insGGGGGCAGGGGCAGGGGCAGGGGC | CA633066214 | RYR1 | c.7835+23_7835+24insGGGGGCAGGGGCAGGGGCAGGGGC (n.7835+23_7835+24insGGGGGCAGGGGCAGGGGCAGGGGC) c.7832+23_7832+24insGGGGGCAGGGGCAGGGGCAGGGGC (n.7832+23_7832+24insGGGGGCAGGGGCAGGGGCAGGGGC) c.1287+23_1287+24insGGGGGCAGGGGCAGGGGCAGGGGC n.7918+23_7918+24insGGGGGCAGGGGCAGGGGCAGGGGC | gnomAD v2 |
19 | g.38502751del | CA995717424 | RYR1 | c.7835+24del (n.7835+24del) c.7832+24del (n.7832+24del) c.1287+24del n.7918+24del | gnomAD v3 gnomAD v4 |
19 | g.38502751T>A | CA882053941 | RYR1 | c.7835+24T>A (n.7835+24T>A) c.7832+24T>A (n.7832+24T>A) c.1287+24T>A n.7918+24T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502751T>C | CA882053940 | RYR1 | c.7835+24T>C (n.7835+24T>C) c.7832+24T>C (n.7832+24T>C) c.1287+24T>C n.7918+24T>C | dbSNP gnomAD v4 |
19 | g.38502751T>G | CA995717400 | RYR1 | c.7835+24T>G (n.7835+24T>G) c.7832+24T>G (n.7832+24T>G) c.1287+24T>G n.7918+24T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502751T= | CA2335054498 | RYR1 | c.7835+24T= (n.7835+24T=) c.7832+24T= (n.7832+24T=) c.1287+24T= n.7918+24T= | |
19 | g.38502751_38502753delinsTGG | CA2335054499 | RYR1 | c.7835+24_7835+26delinsTGG (n.7835+24_7835+26delinsTGG) c.7832+24_7832+26delinsTGG (n.7832+24_7832+26delinsTGG) c.1287+24_1287+26delinsTGG n.7918+24_7918+26delinsTGG | |
19 | g.38502751_38502755delinsTGGGG | CA2335054500 | RYR1 | c.7835+24_7835+28delinsTGGGG (n.7835+24_7835+28delinsTGGGG) c.7832+24_7832+28delinsTGGGG (n.7832+24_7832+28delinsTGGGG) c.1287+24_1287+28delinsTGGGG n.7918+24_7918+28delinsTGGGG | |
19 | g.38502751_38502756del | CA9415829 | RYR1 | c.7835+24_7835+29del (n.7835+24_7835+29del) c.7832+24_7832+29del (n.7832+24_7832+29del) c.1287+24_1287+29del n.7918+24_7918+29del | ExAC |
19 | g.38502751_38502756dup | CA995717412 | RYR1 | c.7835+24_7835+29dup (n.7835+24_7835+29dup) c.7832+24_7832+29dup (n.7832+24_7832+29dup) c.1287+24_1287+29dup n.7918+24_7918+29dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502751_38502757delinsTGGGGCA | CA2588340239 | RYR1 | c.7835+24_7835+30delinsTGGGGCA (n.7835+24_7835+30delinsTGGGGCA) c.7832+24_7832+30delinsTGGGGCA (n.7832+24_7832+30delinsTGGGGCA) c.1287+24_1287+30delinsTGGGGCA n.7918+24_7918+30delinsTGGGGCA | |
19 | g.38502751_38502762dup | CA2576771100 | RYR1 | c.7835+24_7835+35dup (n.7835+24_7835+35dup) c.7832+24_7832+35dup (n.7832+24_7832+35dup) c.1287+24_1287+35dup n.7918+24_7918+35dup | |
19 | g.38502751_38502768del | CA920105555 | RYR1 | c.7835+24_7835+41del (n.7835+24_7835+41del) c.7832+24_7832+41del (n.7832+24_7832+41del) c.1287+24_1287+41del n.7918+24_7918+41del | dbSNP |
19 | g.38502751_38502792del | CA2584900627 | RYR1 | c.7835+24_7835+65del (n.7835+24_7835+65del) c.7832+24_7832+65del (n.7832+24_7832+65del) c.1287+24_1287+65del n.7918+24_7918+65del | gnomAD v4 |
19 | g.38502751_38502793delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA | CA2335054502 | RYR1 | c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA (n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA) c.7832+24_7832+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA (n.7832+24_7832+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA) c.1287+24_1287+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA n.7918+24_7918+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA | |
19 | g.38502751_38502816del | CA9415827 | RYR1 | c.7835+24_7836-64del (n.7835+24_7836-64del) c.7832+24_7833-64del (n.7832+24_7833-64del) c.1287+24_1288-64del n.7918+24_7919-64del | ExAC gnomAD v3 gnomAD v4 |
19 | g.38502751_38502817delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA | CA2335054501 | RYR1 | c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA (n.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA) c.7832+24_7833-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA (n.7832+24_7833-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA) c.1287+24_1288-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA n.7918+24_7919-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA | |
19 | g.38502751_38502752insTGGGGCAGGGGCA | CA995717456 | RYR1 | c.7835+24_7835+25insTGGGGCAGGGGCA (n.7835+24_7835+25insTGGGGCAGGGGCA) c.7832+24_7832+25insTGGGGCAGGGGCA (n.7832+24_7832+25insTGGGGCAGGGGCA) c.1287+24_1287+25insTGGGGCAGGGGCA n.7918+24_7918+25insTGGGGCAGGGGCA | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502752G>A | CA070430 | RYR1 | c.7835+25G>A (n.7835+25G>A) c.7832+25G>A (n.7832+25G>A) c.1287+25G>A n.7918+25G>A | dbSNP ExAC |
19 | g.38502752G>C | CA995717510 | RYR1 | c.7835+25G>C (n.7835+25G>C) c.7832+25G>C (n.7832+25G>C) c.1287+25G>C n.7918+25G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502752G= | CA2335054504 | RYR1 | c.7835+25G= (n.7835+25G=) c.7832+25G= (n.7832+25G=) c.1287+25G= n.7918+25G= | |
19 | g.38502752_38502753insAGGCAG | CA2584900644 | RYR1 | c.7835+25_7835+26insAGGCAG (n.7835+25_7835+26insAGGCAG) c.7832+25_7832+26insAGGCAG (n.7832+25_7832+26insAGGCAG) c.1287+25_1287+26insAGGCAG n.7918+25_7918+26insAGGCAG | gnomAD v4 |
19 | g.38502753_38502754insAGCGG | CA2584900645 | RYR1 | c.7835+26_7835+27insAGCGG (n.7835+26_7835+27insAGCGG) c.7832+26_7832+27insAGCGG (n.7832+26_7832+27insAGCGG) c.1287+26_1287+27insAGCGG n.7918+26_7918+27insAGCGG | gnomAD v4 |
19 | g.38502753_38502754insCGCAGG | CA995717527 | RYR1 | c.7835+26_7835+27insCGCAGG (n.7835+26_7835+27insCGCAGG) c.7832+26_7832+27insCGCAGG (n.7832+26_7832+27insCGCAGG) c.1287+26_1287+27insCGCAGG n.7918+26_7918+27insCGCAGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502753_38502754insAGCAGGGGCAGG | CA2584900646 | RYR1 | c.7835+26_7835+27insAGCAGGGGCAGG (n.7835+26_7835+27insAGCAGGGGCAGG) c.7832+26_7832+27insAGCAGGGGCAGG (n.7832+26_7832+27insAGCAGGGGCAGG) c.1287+26_1287+27insAGCAGGGGCAGG n.7918+26_7918+27insAGCAGGGGCAGG | gnomAD v4 |
19 | g.38502753_38502754insCGCAGGGGCAGGGGCAGG | CA995717533 | RYR1 | c.7835+26_7835+27insCGCAGGGGCAGGGGCAGG (n.7835+26_7835+27insCGCAGGGGCAGGGGCAGG) c.7832+26_7832+27insCGCAGGGGCAGGGGCAGG (n.7832+26_7832+27insCGCAGGGGCAGGGGCAGG) c.1287+26_1287+27insCGCAGGGGCAGGGGCAGG n.7918+26_7918+27insCGCAGGGGCAGGGGCAGG | gnomAD v3 gnomAD v4 |
19 | g.38502753_38502754insAGCGGGGCAGGCTTCAGGGTGGGGCAGG | CA2584900647 | RYR1 | c.7835+26_7835+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGG (n.7835+26_7835+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGG) c.7832+26_7832+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGG (n.7832+26_7832+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGG) c.1287+26_1287+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGG n.7918+26_7918+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGG | gnomAD v4 |
19 | g.38502753_38502754insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG | CA2584900648 | RYR1 | c.7835+26_7835+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+26_7835+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG) c.7832+26_7832+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+26_7832+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG) c.1287+26_1287+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG n.7918+26_7918+27insAGCGGGGCAGGCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG | gnomAD v4 |
19 | g.38502754_38502755insACAGGG | CA2582145373 | RYR1 | c.7835+27_7835+28insACAGGG (n.7835+27_7835+28insACAGGG) c.7832+27_7832+28insACAGGG (n.7832+27_7832+28insACAGGG) c.1287+27_1287+28insACAGGG n.7918+27_7918+28insACAGGG | gnomAD v3 gnomAD v4 |
19 | g.38502754_38502755insACAGGGGCAGGG | CA2584900649 | RYR1 | c.7835+27_7835+28insACAGGGGCAGGG (n.7835+27_7835+28insACAGGGGCAGGG) c.7832+27_7832+28insACAGGGGCAGGG (n.7832+27_7832+28insACAGGGGCAGGG) c.1287+27_1287+28insACAGGGGCAGGG n.7918+27_7918+28insACAGGGGCAGGG | gnomAD v4 |
19 | g.38502754_38502755insACAGGGGCAGGGGCAGGGGCAGGG | CA2584900650 | RYR1 | c.7835+27_7835+28insACAGGGGCAGGGGCAGGGGCAGGG (n.7835+27_7835+28insACAGGGGCAGGGGCAGGGGCAGGG) c.7832+27_7832+28insACAGGGGCAGGGGCAGGGGCAGGG (n.7832+27_7832+28insACAGGGGCAGGGGCAGGGGCAGGG) c.1287+27_1287+28insACAGGGGCAGGGGCAGGGGCAGGG n.7918+27_7918+28insACAGGGGCAGGGGCAGGGGCAGGG | gnomAD v4 |
19 | g.38502754_38502755insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA920105556 | RYR1 | c.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+27_7835+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7832+27_7832+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+27_7832+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1287+27_1287+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7918+27_7918+28insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | dbSNP |
19 | g.38502752_38502755del | CA995717480 | RYR1 | c.7835+25_7835+28del (n.7835+25_7835+28del) c.7832+25_7832+28del (n.7832+25_7832+28del) c.1287+25_1287+28del n.7918+25_7918+28del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502755_38502756insAAGGGG | CA2584900651 | RYR1 | c.7835+28_7835+29insAAGGGG (n.7835+28_7835+29insAAGGGG) c.7832+28_7832+29insAAGGGG (n.7832+28_7832+29insAAGGGG) c.1287+28_1287+29insAAGGGG n.7918+28_7918+29insAAGGGG | gnomAD v4 |
19 | g.38502755_38502756insTAGGGG | CA2584900641 | RYR1 | c.7835+28_7835+29insTAGGGG (n.7835+28_7835+29insTAGGGG) c.7832+28_7832+29insTAGGGG (n.7832+28_7832+29insTAGGGG) c.1287+28_1287+29insTAGGGG n.7918+28_7918+29insTAGGGG | gnomAD v4 |
19 | g.38502755_38502756insGCAGGGG | CA2584900640 | RYR1 | c.7835+28_7835+29insGCAGGGG (n.7835+28_7835+29insGCAGGGG) c.7832+28_7832+29insGCAGGGG (n.7832+28_7832+29insGCAGGGG) c.1287+28_1287+29insGCAGGGG n.7918+28_7918+29insGCAGGGG | gnomAD v4 |
19 | g.38502755_38502756insGTGGGGCAGGGG | CA882053957 | RYR1 | c.7835+28_7835+29insGTGGGGCAGGGG (n.7835+28_7835+29insGTGGGGCAGGGG) c.7832+28_7832+29insGTGGGGCAGGGG (n.7832+28_7832+29insGTGGGGCAGGGG) c.1287+28_1287+29insGTGGGGCAGGGG n.7918+28_7918+29insGTGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502755_38502756insGTGGGGCAGGGGCAGGGG | CA2535042797 | RYR1 | c.7835+28_7835+29insGTGGGGCAGGGGCAGGGG (n.7835+28_7835+29insGTGGGGCAGGGGCAGGGG) c.7832+28_7832+29insGTGGGGCAGGGGCAGGGG (n.7832+28_7832+29insGTGGGGCAGGGGCAGGGG) c.1287+28_1287+29insGTGGGGCAGGGGCAGGGG n.7918+28_7918+29insGTGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502755_38502756insGTGGGGCAGGGGCAGGGGCAGGGG | CA995717455 | RYR1 | c.7835+28_7835+29insGTGGGGCAGGGGCAGGGGCAGGGG (n.7835+28_7835+29insGTGGGGCAGGGGCAGGGGCAGGGG) c.7832+28_7832+29insGTGGGGCAGGGGCAGGGGCAGGGG (n.7832+28_7832+29insGTGGGGCAGGGGCAGGGGCAGGGG) c.1287+28_1287+29insGTGGGGCAGGGGCAGGGGCAGGGG n.7918+28_7918+29insGTGGGGCAGGGGCAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502755del | CA2584900642 | RYR1 | c.7835+28del (n.7835+28del) c.7832+28del (n.7832+28del) c.1287+28del n.7918+28del | gnomAD v4 |
19 | g.38502754_38502755del | CA995717459 | RYR1 | c.7835+27_7835+28del (n.7835+27_7835+28del) c.7832+27_7832+28del (n.7832+27_7832+28del) c.1287+27_1287+28del n.7918+27_7918+28del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502752_38502756delinsGGGGC | CA2335054503 | RYR1 | c.7835+25_7835+29delinsGGGGC (n.7835+25_7835+29delinsGGGGC) c.7832+25_7832+29delinsGGGGC (n.7832+25_7832+29delinsGGGGC) c.1287+25_1287+29delinsGGGGC n.7918+25_7918+29delinsGGGGC | |
19 | g.38502756_38502757insGGGGGC | CA2584900639 | RYR1 | c.7835+29_7835+30insGGGGGC (n.7835+29_7835+30insGGGGGC) c.7832+29_7832+30insGGGGGC (n.7832+29_7832+30insGGGGGC) c.1287+29_1287+30insGGGGGC n.7918+29_7918+30insGGGGGC | gnomAD v4 |
19 | g.38502757_38502758insAGGGCAGGGGCA | CA2584900652 | RYR1 | c.7835+30_7835+31insAGGGCAGGGGCA (n.7835+30_7835+31insAGGGCAGGGGCA) c.7832+30_7832+31insAGGGCAGGGGCA (n.7832+30_7832+31insAGGGCAGGGGCA) c.1287+30_1287+31insAGGGCAGGGGCA n.7918+30_7918+31insAGGGCAGGGGCA | gnomAD v4 |
19 | g.38502757_38502758insCGGGCAGGGGCAGGGGCA | CA995717536 | RYR1 | c.7835+30_7835+31insCGGGCAGGGGCAGGGGCA (n.7835+30_7835+31insCGGGCAGGGGCAGGGGCA) c.7832+30_7832+31insCGGGCAGGGGCAGGGGCA (n.7832+30_7832+31insCGGGCAGGGGCAGGGGCA) c.1287+30_1287+31insCGGGCAGGGGCAGGGGCA n.7918+30_7918+31insCGGGCAGGGGCAGGGGCA | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502758_38502759insAGGCAGGGGCAG | CA995717537 | RYR1 | c.7835+31_7835+32insAGGCAGGGGCAG (n.7835+31_7835+32insAGGCAGGGGCAG) c.7832+31_7832+32insAGGCAGGGGCAG (n.7832+31_7832+32insAGGCAGGGGCAG) c.1287+31_1287+32insAGGCAGGGGCAG n.7918+31_7918+32insAGGCAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502758_38502759insTGGCAGGGGCAG | CA2522885460 | RYR1 | c.7835+31_7835+32insTGGCAGGGGCAG (n.7835+31_7835+32insTGGCAGGGGCAG) c.7832+31_7832+32insTGGCAGGGGCAG (n.7832+31_7832+32insTGGCAGGGGCAG) c.1287+31_1287+32insTGGCAGGGGCAG n.7918+31_7918+32insTGGCAGGGGCAG | gnomAD v4 |
19 | g.38502758_38502759insAGGCAGGGGCAGGGGCAG | CA2584900653 | RYR1 | c.7835+31_7835+32insAGGCAGGGGCAGGGGCAG (n.7835+31_7835+32insAGGCAGGGGCAGGGGCAG) c.7832+31_7832+32insAGGCAGGGGCAGGGGCAG (n.7832+31_7832+32insAGGCAGGGGCAGGGGCAG) c.1287+31_1287+32insAGGCAGGGGCAGGGGCAG n.7918+31_7918+32insAGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502758_38502759insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG | CA2584900654 | RYR1 | c.7835+31_7835+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7835+31_7835+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG) c.7832+31_7832+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7832+31_7832+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG) c.1287+31_1287+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG n.7918+31_7918+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502758_38502759insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG | CA2814346984 | RYR1 | c.7835+31_7835+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7835+31_7835+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG) c.7832+31_7832+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7832+31_7832+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG) c.1287+31_1287+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG n.7918+31_7918+32insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG | |
19 | g.38502759_38502760insAGCAGGGGCAGG | CA2584900655 | RYR1 | c.7835+32_7835+33insAGCAGGGGCAGG (n.7835+32_7835+33insAGCAGGGGCAGG) c.7832+32_7832+33insAGCAGGGGCAGG (n.7832+32_7832+33insAGCAGGGGCAGG) c.1287+32_1287+33insAGCAGGGGCAGG n.7918+32_7918+33insAGCAGGGGCAGG | gnomAD v4 |
19 | g.38502759_38502760insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG | CA995717540 | RYR1 | c.7835+32_7835+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG (n.7835+32_7835+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG) c.7832+32_7832+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG (n.7832+32_7832+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG) c.1287+32_1287+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG n.7918+32_7918+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG | gnomAD v3 gnomAD v4 |
19 | g.38502759_38502760insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG | CA2584900656 | RYR1 | c.7835+32_7835+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+32_7835+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG) c.7832+32_7832+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+32_7832+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG) c.1287+32_1287+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG n.7918+32_7918+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG | gnomAD v4 |
19 | g.38502759_38502760insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG | CA2584900657 | RYR1 | c.7835+32_7835+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+32_7835+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG) c.7832+32_7832+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+32_7832+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG) c.1287+32_1287+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG n.7918+32_7918+33insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGG | gnomAD v4 |
19 | g.38502760_38502761insACAGGGGCAGGG | CA2584900658 | RYR1 | c.7835+33_7835+34insACAGGGGCAGGG (n.7835+33_7835+34insACAGGGGCAGGG) c.7832+33_7832+34insACAGGGGCAGGG (n.7832+33_7832+34insACAGGGGCAGGG) c.1287+33_1287+34insACAGGGGCAGGG n.7918+33_7918+34insACAGGGGCAGGG | gnomAD v4 |
19 | g.38502760_38502761insTCAGGGGCAGGG | CA2584900637 | RYR1 | c.7835+33_7835+34insTCAGGGGCAGGG (n.7835+33_7835+34insTCAGGGGCAGGG) c.7832+33_7832+34insTCAGGGGCAGGG (n.7832+33_7832+34insTCAGGGGCAGGG) c.1287+33_1287+34insTCAGGGGCAGGG n.7918+33_7918+34insTCAGGGGCAGGG | gnomAD v4 |
19 | g.38502760_38502761insTGGGGCAGGGGCAGGG | CA2584900638 | RYR1 | c.7835+33_7835+34insTGGGGCAGGGGCAGGG (n.7835+33_7835+34insTGGGGCAGGGGCAGGG) c.7832+33_7832+34insTGGGGCAGGGGCAGGG (n.7832+33_7832+34insTGGGGCAGGGGCAGGG) c.1287+33_1287+34insTGGGGCAGGGGCAGGG n.7918+33_7918+34insTGGGGCAGGGGCAGGG | gnomAD v4 |
19 | g.38502760_38502761insACAGGGGCAGGGGCAGGGGCAGGG | CA2584900659 | RYR1 | c.7835+33_7835+34insACAGGGGCAGGGGCAGGGGCAGGG (n.7835+33_7835+34insACAGGGGCAGGGGCAGGGGCAGGG) c.7832+33_7832+34insACAGGGGCAGGGGCAGGGGCAGGG (n.7832+33_7832+34insACAGGGGCAGGGGCAGGGGCAGGG) c.1287+33_1287+34insACAGGGGCAGGGGCAGGGGCAGGG n.7918+33_7918+34insACAGGGGCAGGGGCAGGGGCAGGG | gnomAD v4 |
19 | g.38502760_38502761insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG | CA2584900660 | RYR1 | c.7835+33_7835+34insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG (n.7835+33_7835+34insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG) c.7832+33_7832+34insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG (n.7832+33_7832+34insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG) c.1287+33_1287+34insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG n.7918+33_7918+34insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG | gnomAD v4 |
19 | g.38502762_38502763insCGGGGCAGGGGC | CA2584900636 | RYR1 | c.7835+35_7835+36insCGGGGCAGGGGC (n.7835+35_7835+36insCGGGGCAGGGGC) c.7832+35_7832+36insCGGGGCAGGGGC (n.7832+35_7832+36insCGGGGCAGGGGC) c.1287+35_1287+36insCGGGGCAGGGGC n.7918+35_7918+36insCGGGGCAGGGGC | gnomAD v4 |
19 | g.38502764_38502765insAGGCAGGGGCAGGGGCAG | CA2584900661 | RYR1 | c.7835+37_7835+38insAGGCAGGGGCAGGGGCAG (n.7835+37_7835+38insAGGCAGGGGCAGGGGCAG) c.7832+37_7832+38insAGGCAGGGGCAGGGGCAG (n.7832+37_7832+38insAGGCAGGGGCAGGGGCAG) c.1287+37_1287+38insAGGCAGGGGCAGGGGCAG n.7918+37_7918+38insAGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502764_38502765insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG | CA2584900662 | RYR1 | c.7835+37_7835+38insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7835+37_7835+38insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG) c.7832+37_7832+38insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7832+37_7832+38insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG) c.1287+37_1287+38insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG n.7918+37_7918+38insAGGCAGGGGCAGGGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502765_38502766insAGCAGGGGCAGGGGCAGGGGCAGG | CA995717558 | RYR1 | c.7835+38_7835+39insAGCAGGGGCAGGGGCAGGGGCAGG (n.7835+38_7835+39insAGCAGGGGCAGGGGCAGGGGCAGG) c.7832+38_7832+39insAGCAGGGGCAGGGGCAGGGGCAGG (n.7832+38_7832+39insAGCAGGGGCAGGGGCAGGGGCAGG) c.1287+38_1287+39insAGCAGGGGCAGGGGCAGGGGCAGG n.7918+38_7918+39insAGCAGGGGCAGGGGCAGGGGCAGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502768_38502769insCGGGGCAGGGGCAGGGGCAGGGGC | CA2814346988 | RYR1 | c.7835+41_7835+42insCGGGGCAGGGGCAGGGGCAGGGGC (n.7835+41_7835+42insCGGGGCAGGGGCAGGGGCAGGGGC) c.7832+41_7832+42insCGGGGCAGGGGCAGGGGCAGGGGC (n.7832+41_7832+42insCGGGGCAGGGGCAGGGGCAGGGGC) c.1287+41_1287+42insCGGGGCAGGGGCAGGGGCAGGGGC n.7918+41_7918+42insCGGGGCAGGGGCAGGGGCAGGGGC | |
19 | g.38502771_38502772insAGCAGGGGCAGGGGCAGGGGCAGG | CA2584900663 | RYR1 | c.7835+44_7835+45insAGCAGGGGCAGGGGCAGGGGCAGG (n.7835+44_7835+45insAGCAGGGGCAGGGGCAGGGGCAGG) c.7832+44_7832+45insAGCAGGGGCAGGGGCAGGGGCAGG (n.7832+44_7832+45insAGCAGGGGCAGGGGCAGGGGCAGG) c.1287+44_1287+45insAGCAGGGGCAGGGGCAGGGGCAGG n.7918+44_7918+45insAGCAGGGGCAGGGGCAGGGGCAGG | gnomAD v4 |
19 | g.38502771_38502772insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG | CA2584900643 | RYR1 | c.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+44_7835+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG) c.7832+44_7832+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+44_7832+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG) c.1287+44_1287+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG n.7918+44_7918+45insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG | gnomAD v4 |
19 | g.38502791_38502792insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2584900635 | RYR1 | c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7918+64_7918+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2584900633 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2584900634 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502804_38502809dup | CA633066215 | RYR1 | c.7836-76_7836-71dup (n.7836-76_7836-71dup) c.7833-76_7833-71dup (n.7833-76_7833-71dup) c.1288-76_1288-71dup n.7919-76_7919-71dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502798_38502809dup | CA633066216 | RYR1 | c.7835+71_7836-71dup (n.7835+71_7836-71dup) c.7832+71_7833-71dup (n.7832+71_7833-71dup) c.1287+71_1288-71dup n.7918+71_7919-71dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502792_38502809dup | CA633066217 | RYR1 | c.7835+65_7836-71dup (n.7835+65_7836-71dup) c.7832+65_7833-71dup (n.7832+65_7833-71dup) c.1287+65_1288-71dup n.7918+65_7919-71dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502786_38502809dup | CA920105557 | RYR1 | c.7835+59_7836-71dup (n.7835+59_7836-71dup) c.7832+59_7833-71dup (n.7832+59_7833-71dup) c.1287+59_1288-71dup n.7918+59_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502780_38502809dup | CA995717544 | RYR1 | c.7835+53_7836-71dup (n.7835+53_7836-71dup) c.7832+53_7833-71dup (n.7832+53_7833-71dup) c.1287+53_1288-71dup n.7918+53_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502774_38502809dup | CA995717550 | RYR1 | c.7835+47_7836-71dup (n.7835+47_7836-71dup) c.7832+47_7833-71dup (n.7832+47_7833-71dup) c.1287+47_1288-71dup n.7918+47_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502768_38502809dup | CA995717552 | RYR1 | c.7835+41_7836-71dup (n.7835+41_7836-71dup) c.7832+41_7833-71dup (n.7832+41_7833-71dup) c.1287+41_1288-71dup n.7918+41_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502762_38502809dup | CA995717512 | RYR1 | c.7835+35_7836-71dup (n.7835+35_7836-71dup) c.7832+35_7833-71dup (n.7832+35_7833-71dup) c.1287+35_1288-71dup n.7918+35_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502756_38502809dup | CA995717513 | RYR1 | c.7835+29_7836-71dup (n.7835+29_7836-71dup) c.7832+29_7833-71dup (n.7832+29_7833-71dup) c.1287+29_1288-71dup n.7918+29_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502804_38502809del | CA9415831 | RYR1 | c.7836-76_7836-71del (n.7836-76_7836-71del) c.7833-76_7833-71del (n.7833-76_7833-71del) c.1288-76_1288-71del n.7919-76_7919-71del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502798_38502809del | CA9415832 | RYR1 | c.7835+71_7836-71del (n.7835+71_7836-71del) c.7832+71_7833-71del (n.7832+71_7833-71del) c.1287+71_1288-71del n.7918+71_7919-71del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502792_38502809del | CA9415830 | RYR1 | c.7835+65_7836-71del (n.7835+65_7836-71del) c.7832+65_7833-71del (n.7832+65_7833-71del) c.1287+65_1288-71del n.7918+65_7919-71del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502786_38502809del | CA9415834 | RYR1 | c.7835+59_7836-71del (n.7835+59_7836-71del) c.7832+59_7833-71del (n.7832+59_7833-71del) c.1287+59_1288-71del n.7918+59_7919-71del | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38502780_38502809del | CA9415833 | RYR1 | c.7835+53_7836-71del (n.7835+53_7836-71del) c.7832+53_7833-71del (n.7832+53_7833-71del) c.1287+53_1288-71del n.7918+53_7919-71del | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38502774_38502809del | CA070415 | RYR1 | c.7835+47_7836-71del (n.7835+47_7836-71del) c.7832+47_7833-71del (n.7832+47_7833-71del) c.1287+47_1288-71del n.7918+47_7919-71del | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38502768_38502809del | CA995717500 | RYR1 | c.7835+41_7836-71del (n.7835+41_7836-71del) c.7832+41_7833-71del (n.7832+41_7833-71del) c.1287+41_1288-71del n.7918+41_7919-71del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502762_38502809del | CA995717501 | RYR1 | c.7835+35_7836-71del (n.7835+35_7836-71del) c.7832+35_7833-71del (n.7832+35_7833-71del) c.1287+35_1288-71del n.7918+35_7919-71del | gnomAD v3 gnomAD v4 |
19 | g.38502754_38502813del | CA995717505 | RYR1 | c.7835+27_7836-67del (n.7835+27_7836-67del) c.7832+27_7833-67del (n.7832+27_7833-67del) c.1287+27_1288-67del n.7918+27_7919-67del | gnomAD v3 gnomAD v4 |
19 | g.38502765_38502830del | CA995717507 | RYR1 | c.7835+38_7836-50del (n.7835+38_7836-50del) c.7832+38_7833-50del (n.7832+38_7833-50del) c.1287+38_1288-50del n.7918+38_7919-50del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502753G>A | CA633066219 | RYR1 | c.7835+26G>A (n.7835+26G>A) c.7832+26G>A (n.7832+26G>A) c.1287+26G>A n.7918+26G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502753G>C | CA070435 | RYR1 | c.7835+26G>C (n.7835+26G>C) c.7832+26G>C (n.7832+26G>C) c.1287+26G>C n.7918+26G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502753G= | CA2335054505 | RYR1 | c.7835+26G= (n.7835+26G=) c.7832+26G= (n.7832+26G=) c.1287+26G= n.7918+26G= | |
19 | g.38502753G>T | CA070440 | RYR1 | c.7835+26G>T (n.7835+26G>T) c.7832+26G>T (n.7832+26G>T) c.1287+26G>T n.7918+26G>T | dbSNP ExAC |
19 | g.38502753_38502756del | CA633066218 | RYR1 | c.7835+26_7835+29del (n.7835+26_7835+29del) c.7832+26_7832+29del (n.7832+26_7832+29del) c.1287+26_1287+29del n.7918+26_7918+29del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502754G>A | CA633066220 | RYR1 | c.7835+27G>A (n.7835+27G>A) c.7832+27G>A (n.7832+27G>A) c.1287+27G>A n.7918+27G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502754G>C | CA9415837 | RYR1 | c.7835+27G>C (n.7835+27G>C) c.7832+27G>C (n.7832+27G>C) c.1287+27G>C n.7918+27G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502754G= | CA2335054508 | RYR1 | c.7835+27G= (n.7835+27G=) c.7832+27G= (n.7832+27G=) c.1287+27G= n.7918+27G= | |
19 | g.38502754_38502756del | CA2584900665 | RYR1 | c.7835+27_7835+29del (n.7835+27_7835+29del) c.7832+27_7832+29del (n.7832+27_7832+29del) c.1287+27_1287+29del n.7918+27_7918+29del | gnomAD v4 |
19 | g.38502754_38502756delinsGGC | CA2335054506 | RYR1 | c.7835+27_7835+29delinsGGC (n.7835+27_7835+29delinsGGC) c.7832+27_7832+29delinsGGC (n.7832+27_7832+29delinsGGC) c.1287+27_1287+29delinsGGC n.7918+27_7918+29delinsGGC | |
19 | g.38502758_38502759insAGGCAG | CA9415835 | RYR1 | c.7835+31_7835+32insAGGCAG (n.7835+31_7835+32insAGGCAG) c.7832+31_7832+32insAGGCAG (n.7832+31_7832+32insAGGCAG) c.1287+31_1287+32insAGGCAG n.7918+31_7918+32insAGGCAG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502764_38502765insAGGCAGGGGCAG | CA633066221 | RYR1 | c.7835+37_7835+38insAGGCAGGGGCAG (n.7835+37_7835+38insAGGCAGGGGCAG) c.7832+37_7832+38insAGGCAGGGGCAG (n.7832+37_7832+38insAGGCAGGGGCAG) c.1287+37_1287+38insAGGCAGGGGCAG n.7918+37_7918+38insAGGCAGGGGCAG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502764_38502765insCGGCAGGGGCAG | CA2735909549 | RYR1 | c.7835+37_7835+38insCGGCAGGGGCAG (n.7835+37_7835+38insCGGCAGGGGCAG) c.7832+37_7832+38insCGGCAGGGGCAG (n.7832+37_7832+38insCGGCAGGGGCAG) c.1287+37_1287+38insCGGCAGGGGCAG n.7918+37_7918+38insCGGCAGGGGCAG | dbSNP |
19 | g.38502770_38502771insAGGCAGGGGCAGGGGCAG | CA2584900664 | RYR1 | c.7835+43_7835+44insAGGCAGGGGCAGGGGCAG (n.7835+43_7835+44insAGGCAGGGGCAGGGGCAG) c.7832+43_7832+44insAGGCAGGGGCAGGGGCAG (n.7832+43_7832+44insAGGCAGGGGCAGGGGCAG) c.1287+43_1287+44insAGGCAGGGGCAGGGGCAG n.7918+43_7918+44insAGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502754_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054507 | RYR1 | c.7835+27_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+27_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+27_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+27_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+27_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+27_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | |
19 | g.38502755G>A | CA9415839 | RYR1 | c.7835+28G>A (n.7835+28G>A) c.7832+28G>A (n.7832+28G>A) c.1287+28G>A n.7918+28G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502755G= | CA2335054509 | RYR1 | c.7835+28G= (n.7835+28G=) c.7832+28G= (n.7832+28G=) c.1287+28G= n.7918+28G= | |
19 | g.38502755G>T | CA995717572 | RYR1 | c.7835+28G>T (n.7835+28G>T) c.7832+28G>T (n.7832+28G>T) c.1287+28G>T n.7918+28G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502755_38502756del | CA995717585 | RYR1 | c.7835+28_7835+29del (n.7835+28_7835+29del) c.7832+28_7832+29del (n.7832+28_7832+29del) c.1287+28_1287+29del n.7918+28_7918+29del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502755_38502757delinsGCA | CA2335054510 | RYR1 | c.7835+28_7835+30delinsGCA (n.7835+28_7835+30delinsGCA) c.7832+28_7832+30delinsGCA (n.7832+28_7832+30delinsGCA) c.1287+28_1287+30delinsGCA n.7918+28_7918+30delinsGCA | |
19 | g.38502755_38502762delinsGCAGGGGC | CA2335054511 | RYR1 | c.7835+28_7835+35delinsGCAGGGGC (n.7835+28_7835+35delinsGCAGGGGC) c.7832+28_7832+35delinsGCAGGGGC (n.7832+28_7832+35delinsGCAGGGGC) c.1287+28_1287+35delinsGCAGGGGC n.7918+28_7918+35delinsGCAGGGGC | |
19 | g.38502771_38502830del | CA9415836 | RYR1 | c.7835+44_7836-50del (n.7835+44_7836-50del) c.7832+44_7833-50del (n.7832+44_7833-50del) c.1287+44_1288-50del n.7918+44_7919-50del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502756C>A | CA2584900666 | RYR1 | c.7835+29C>A (n.7835+29C>A) c.7832+29C>A (n.7832+29C>A) c.1287+29C>A n.7918+29C>A | gnomAD v4 |
19 | g.38502756C= | CA2335054513 | RYR1 | c.7835+29C= (n.7835+29C=) c.7832+29C= (n.7832+29C=) c.1287+29C= n.7918+29C= | |
19 | g.38502756C>G | CA633066223 | RYR1 | c.7835+29C>G (n.7835+29C>G) c.7832+29C>G (n.7832+29C>G) c.1287+29C>G n.7918+29C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502756C>T | CA9415840 | RYR1 | c.7835+29C>T (n.7835+29C>T) c.7832+29C>T (n.7832+29C>T) c.1287+29C>T n.7918+29C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502756_38502757del | CA9415838 | RYR1 | c.7835+29_7835+30del (n.7835+29_7835+30del) c.7832+29_7832+30del (n.7832+29_7832+30del) c.1287+29_1287+30del n.7918+29_7918+30del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502756_38502757delinsCA | CA2335054514 | RYR1 | c.7835+29_7835+30delinsCA (n.7835+29_7835+30delinsCA) c.7832+29_7832+30delinsCA (n.7832+29_7832+30delinsCA) c.1287+29_1287+30delinsCA n.7918+29_7918+30delinsCA | |
19 | g.38502760_38502761insACAGGG | CA2584900668 | RYR1 | c.7835+33_7835+34insACAGGG (n.7835+33_7835+34insACAGGG) c.7832+33_7832+34insACAGGG (n.7832+33_7832+34insACAGGG) c.1287+33_1287+34insACAGGG n.7918+33_7918+34insACAGGG | gnomAD v4 |
19 | g.38502756_38502762del | CA882053973 | RYR1 | c.7835+29_7835+35del (n.7835+29_7835+35del) c.7832+29_7832+35del (n.7832+29_7832+35del) c.1287+29_1287+35del n.7918+29_7918+35del | dbSNP gnomAD v4 |
19 | g.38502772_38502773insACAGGGGCAGGGGCAGGG | CA633066222 | RYR1 | c.7835+45_7835+46insACAGGGGCAGGGGCAGGG (n.7835+45_7835+46insACAGGGGCAGGGGCAGGG) c.7832+45_7832+46insACAGGGGCAGGGGCAGGG (n.7832+45_7832+46insACAGGGGCAGGGGCAGGG) c.1287+45_1287+46insACAGGGGCAGGGGCAGGG n.7918+45_7918+46insACAGGGGCAGGGGCAGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502772_38502773insTCAGGGGCAGGGGCAGGG | CA2584900667 | RYR1 | c.7835+45_7835+46insTCAGGGGCAGGGGCAGGG (n.7835+45_7835+46insTCAGGGGCAGGGGCAGGG) c.7832+45_7832+46insTCAGGGGCAGGGGCAGGG (n.7832+45_7832+46insTCAGGGGCAGGGGCAGGG) c.1287+45_1287+46insTCAGGGGCAGGGGCAGGG n.7918+45_7918+46insTCAGGGGCAGGGGCAGGG | gnomAD v4 |
19 | g.38502756_38502814delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054512 | RYR1 | c.7835+29_7836-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+29_7836-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+29_7833-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+29_7833-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+29_1288-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+29_7919-66delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | |
19 | g.38502756_38502816del | CA995717592 | RYR1 | c.7835+29_7836-64del (n.7835+29_7836-64del) c.7832+29_7833-64del (n.7832+29_7833-64del) c.1287+29_1288-64del n.7918+29_7919-64del | gnomAD v3 gnomAD v4 |
19 | g.38502757del | CA9415842 | RYR1 | c.7835+30del (n.7835+30del) c.7832+30del (n.7832+30del) c.1287+30del n.7918+30del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502757A= | CA2335054515 | RYR1 | c.7835+30A= (n.7835+30A=) c.7832+30A= (n.7832+30A=) c.1287+30A= n.7918+30A= | |
19 | g.38502757A>C | CA2814347005 | RYR1 | c.7835+30A>C (n.7835+30A>C) c.7832+30A>C (n.7832+30A>C) c.1287+30A>C n.7918+30A>C | |
19 | g.38502757A>G | CA995717595 | RYR1 | c.7835+30A>G (n.7835+30A>G) c.7832+30A>G (n.7832+30A>G) c.1287+30A>G n.7918+30A>G | gnomAD v3 gnomAD v4 |
19 | g.38502757A>T | CA070452 | RYR1 | c.7835+30A>T (n.7835+30A>T) c.7832+30A>T (n.7832+30A>T) c.1287+30A>T n.7918+30A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502757_38502761delinsAGGGG | CA2335054516 | RYR1 | c.7835+30_7835+34delinsAGGGG (n.7835+30_7835+34delinsAGGGG) c.7832+30_7832+34delinsAGGGG (n.7832+30_7832+34delinsAGGGG) c.1287+30_1287+34delinsAGGGG n.7918+30_7918+34delinsAGGGG | |
19 | g.38502761_38502762insTAGGGG | CA995717597 | RYR1 | c.7835+34_7835+35insTAGGGG (n.7835+34_7835+35insTAGGGG) c.7832+34_7832+35insTAGGGG (n.7832+34_7832+35insTAGGGG) c.1287+34_1287+35insTAGGGG n.7918+34_7918+35insTAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502757_38502764del | CA995717612 | RYR1 | c.7835+30_7835+37del (n.7835+30_7835+37del) c.7832+30_7832+37del (n.7832+30_7832+37del) c.1287+30_1287+37del n.7918+30_7918+37del | gnomAD v3 gnomAD v4 |
19 | g.38502767_38502768insAAGGGGCAGGGG | CA2582145374 | RYR1 | c.7835+40_7835+41insAAGGGGCAGGGG (n.7835+40_7835+41insAAGGGGCAGGGG) c.7832+40_7832+41insAAGGGGCAGGGG (n.7832+40_7832+41insAAGGGGCAGGGG) c.1287+40_1287+41insAAGGGGCAGGGG n.7918+40_7918+41insAAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502767_38502768insGAGGGGCAGGGG | CA2584900670 | RYR1 | c.7835+40_7835+41insGAGGGGCAGGGG (n.7835+40_7835+41insGAGGGGCAGGGG) c.7832+40_7832+41insGAGGGGCAGGGG (n.7832+40_7832+41insGAGGGGCAGGGG) c.1287+40_1287+41insGAGGGGCAGGGG n.7918+40_7918+41insGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502757_38502773del | CA2584900669 | RYR1 | c.7835+30_7835+46del (n.7835+30_7835+46del) c.7832+30_7832+46del (n.7832+30_7832+46del) c.1287+30_1287+46del n.7918+30_7918+46del | gnomAD v4 |
19 | g.38502757_38502784del | CA9415843 | RYR1 | c.7835+30_7835+57del (n.7835+30_7835+57del) c.7832+30_7832+57del (n.7832+30_7832+57del) c.1287+30_1287+57del n.7918+30_7918+57del | ExAC |
19 | g.38502791_38502792insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA633066225 | RYR1 | c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7918+64_7918+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502797_38502798insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA995717605 | RYR1 | c.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1287+70_1287+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7918+70_7918+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA633066224 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-77_7919-76insGAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502757_38502814del | CA9415841 | RYR1 | c.7835+30_7836-66del (n.7835+30_7836-66del) c.7832+30_7833-66del (n.7832+30_7833-66del) c.1287+30_1288-66del n.7918+30_7919-66del | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38502758G>A | CA9415848 | RYR1 | c.7835+31G>A (n.7835+31G>A) c.7832+31G>A (n.7832+31G>A) c.1287+31G>A n.7918+31G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502758G>C | CA9415845 | RYR1 | c.7835+31G>C (n.7835+31G>C) c.7832+31G>C (n.7832+31G>C) c.1287+31G>C n.7918+31G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502758G= | CA2335054517 | RYR1 | c.7835+31G= (n.7835+31G=) c.7832+31G= (n.7832+31G=) c.1287+31G= n.7918+31G= | |
19 | g.38502758G>T | CA9415849 | RYR1 | c.7835+31G>T (n.7835+31G>T) c.7832+31G>T (n.7832+31G>T) c.1287+31G>T n.7918+31G>T | ExAC |
19 | g.38502759_38502760insCTTCAGGGTGG | CA633066226 | RYR1 | c.7835+32_7835+33insCTTCAGGGTGG (n.7835+32_7835+33insCTTCAGGGTGG) c.7832+32_7832+33insCTTCAGGGTGG (n.7832+32_7832+33insCTTCAGGGTGG) c.1287+32_1287+33insCTTCAGGGTGG n.7918+32_7918+33insCTTCAGGGTGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502758_38502761del | CA995717621 | RYR1 | c.7835+31_7835+34del (n.7835+31_7835+34del) c.7832+31_7832+34del (n.7832+31_7832+34del) c.1287+31_1287+34del n.7918+31_7918+34del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502760_38502761del | CA2547390296 | RYR1 | c.7835+33_7835+34del (n.7835+33_7835+34del) c.7832+33_7832+34del (n.7832+33_7832+34del) c.1287+33_1287+34del n.7918+33_7918+34del | gnomAD v4 |
19 | g.38502759_38502761del | CA2814347011 | RYR1 | c.7835+32_7835+34del (n.7835+32_7835+34del) c.7832+32_7832+34del (n.7832+32_7832+34del) c.1287+32_1287+34del n.7918+32_7918+34del | |
19 | g.38502758_38502762delinsGGGGC | CA2335054518 | RYR1 | c.7835+31_7835+35delinsGGGGC (n.7835+31_7835+35delinsGGGGC) c.7832+31_7832+35delinsGGGGC (n.7832+31_7832+35delinsGGGGC) c.1287+31_1287+35delinsGGGGC n.7918+31_7918+35delinsGGGGC | |
19 | g.38502765_38502766insCTTCAGGGTGGGGCAGG | CA995717619 | RYR1 | c.7835+38_7835+39insCTTCAGGGTGGGGCAGG (n.7835+38_7835+39insCTTCAGGGTGGGGCAGG) c.7832+38_7832+39insCTTCAGGGTGGGGCAGG (n.7832+38_7832+39insCTTCAGGGTGGGGCAGG) c.1287+38_1287+39insCTTCAGGGTGGGGCAGG n.7918+38_7918+39insCTTCAGGGTGGGGCAGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502759_38502767del | CA2584900671 | RYR1 | c.7835+32_7835+40del (n.7835+32_7835+40del) c.7832+32_7832+40del (n.7832+32_7832+40del) c.1287+32_1287+40del n.7918+32_7918+40del | gnomAD v4 |
19 | g.38502768_38502769insCGGGGCAGGGGC | CA2814347012 | RYR1 | c.7835+41_7835+42insCGGGGCAGGGGC (n.7835+41_7835+42insCGGGGCAGGGGC) c.7832+41_7832+42insCGGGGCAGGGGC (n.7832+41_7832+42insCGGGGCAGGGGC) c.1287+41_1287+42insCGGGGCAGGGGC n.7918+41_7918+42insCGGGGCAGGGGC | |
19 | g.38502774_38502775insGGGGGCAGGGGCAGGGGC | CA9415844 | RYR1 | c.7835+47_7835+48insGGGGGCAGGGGCAGGGGC (n.7835+47_7835+48insGGGGGCAGGGGCAGGGGC) c.7832+47_7832+48insGGGGGCAGGGGCAGGGGC (n.7832+47_7832+48insGGGGGCAGGGGCAGGGGC) c.1287+47_1287+48insGGGGGCAGGGGCAGGGGC n.7918+47_7918+48insGGGGGCAGGGGCAGGGGC | dbSNP ExAC |
19 | g.38502783_38502784insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG | CA2584900672 | RYR1 | c.7835+56_7835+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+56_7835+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG) c.7832+56_7832+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+56_7832+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG) c.1287+56_1287+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG n.7918+56_7918+57insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG | gnomAD v4 |
19 | g.38502759G>A | CA070456 | RYR1 | c.7835+32G>A (n.7835+32G>A) c.7832+32G>A (n.7832+32G>A) c.1287+32G>A n.7918+32G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502759G>C | CA882053982 | RYR1 | c.7835+32G>C (n.7835+32G>C) c.7832+32G>C (n.7832+32G>C) c.1287+32G>C n.7918+32G>C | dbSNP gnomAD v4 |
19 | g.38502759G= | CA2335054520 | RYR1 | c.7835+32G= (n.7835+32G=) c.7832+32G= (n.7832+32G=) c.1287+32G= n.7918+32G= | |
19 | g.38502759G>T | CA070459 | RYR1 | c.7835+32G>T (n.7835+32G>T) c.7832+32G>T (n.7832+32G>T) c.1287+32G>T n.7918+32G>T | dbSNP ExAC gnomAD v4 |
19 | g.38502759_38502762del | CA9415846 | RYR1 | c.7835+32_7835+35del (n.7835+32_7835+35del) c.7832+32_7832+35del (n.7832+32_7832+35del) c.1287+32_1287+35del n.7918+32_7918+35del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502759_38502762delinsGGGC | CA2335054519 | RYR1 | c.7835+32_7835+35delinsGGGC (n.7835+32_7835+35delinsGGGC) c.7832+32_7832+35delinsGGGC (n.7832+32_7832+35delinsGGGC) c.1287+32_1287+35delinsGGGC n.7918+32_7918+35delinsGGGC | |
19 | g.38502763_38502764insCGGGCA | CA633066227 | RYR1 | c.7835+36_7835+37insCGGGCA (n.7835+36_7835+37insCGGGCA) c.7832+36_7832+37insCGGGCA (n.7832+36_7832+37insCGGGCA) c.1287+36_1287+37insCGGGCA n.7918+36_7918+37insCGGGCA | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502769_38502770insAGGGCAGGGGCA | CA2510023416 | RYR1 | c.7835+42_7835+43insAGGGCAGGGGCA (n.7835+42_7835+43insAGGGCAGGGGCA) c.7832+42_7832+43insAGGGCAGGGGCA (n.7832+42_7832+43insAGGGCAGGGGCA) c.1287+42_1287+43insAGGGCAGGGGCA n.7918+42_7918+43insAGGGCAGGGGCA | |
19 | g.38502775_38502776insAGGGCAGGGGCAGGGGCA | CA995717624 | RYR1 | c.7835+48_7835+49insAGGGCAGGGGCAGGGGCA (n.7835+48_7835+49insAGGGCAGGGGCAGGGGCA) c.7832+48_7832+49insAGGGCAGGGGCAGGGGCA (n.7832+48_7832+49insAGGGCAGGGGCAGGGGCA) c.1287+48_1287+49insAGGGCAGGGGCAGGGGCA n.7918+48_7918+49insAGGGCAGGGGCAGGGGCA | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502759_38502816del | CA9415847 | RYR1 | c.7835+32_7836-64del (n.7835+32_7836-64del) c.7832+32_7833-64del (n.7832+32_7833-64del) c.1287+32_1288-64del n.7918+32_7919-64del | ExAC |
19 | g.38502759_38502760insCTTCA | CA9415851 | RYR1 | c.7835+32_7835+33insCTTCA (n.7835+32_7835+33insCTTCA) c.7832+32_7832+33insCTTCA (n.7832+32_7832+33insCTTCA) c.1287+32_1287+33insCTTCA n.7918+32_7918+33insCTTCA | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502759_38502760insCTTCAGGGT | CA2584900673 | RYR1 | c.7835+32_7835+33insCTTCAGGGT (n.7835+32_7835+33insCTTCAGGGT) c.7832+32_7832+33insCTTCAGGGT (n.7832+32_7832+33insCTTCAGGGT) c.1287+32_1287+33insCTTCAGGGT n.7918+32_7918+33insCTTCAGGGT | gnomAD v4 |
19 | g.38502760G>A | CA633066228 | RYR1 | c.7835+33G>A (n.7835+33G>A) c.7832+33G>A (n.7832+33G>A) c.1287+33G>A n.7918+33G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502760G>C | CA2584900675 | RYR1 | c.7835+33G>C (n.7835+33G>C) c.7832+33G>C (n.7832+33G>C) c.1287+33G>C n.7918+33G>C | gnomAD v4 |
19 | g.38502760G= | CA2335054521 | RYR1 | c.7835+33G= (n.7835+33G=) c.7832+33G= (n.7832+33G=) c.1287+33G= n.7918+33G= | |
19 | g.38502760G>T | CA2584900674 | RYR1 | c.7835+33G>T (n.7835+33G>T) c.7832+33G>T (n.7832+33G>T) c.1287+33G>T n.7918+33G>T | gnomAD v4 |
19 | g.38502760_38502762del | CA995717629 | RYR1 | c.7835+33_7835+35del (n.7835+33_7835+35del) c.7832+33_7832+35del (n.7832+33_7832+35del) c.1287+33_1287+35del n.7918+33_7918+35del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502760_38502762delinsGGC | CA2335054523 | RYR1 | c.7835+33_7835+35delinsGGC (n.7835+33_7835+35delinsGGC) c.7832+33_7832+35delinsGGC (n.7832+33_7832+35delinsGGC) c.1287+33_1287+35delinsGGC n.7918+33_7918+35delinsGGC | |
19 | g.38502764_38502765insAGGCAG | CA9415850 | RYR1 | c.7835+37_7835+38insAGGCAG (n.7835+37_7835+38insAGGCAG) c.7832+37_7832+38insAGGCAG (n.7832+37_7832+38insAGGCAG) c.1287+37_1287+38insAGGCAG n.7918+37_7918+38insAGGCAG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502770_38502771insAGGCAGGGGCAG | CA2584900677 | RYR1 | c.7835+43_7835+44insAGGCAGGGGCAG (n.7835+43_7835+44insAGGCAGGGGCAG) c.7832+43_7832+44insAGGCAGGGGCAG (n.7832+43_7832+44insAGGCAGGGGCAG) c.1287+43_1287+44insAGGCAGGGGCAG n.7918+43_7918+44insAGGCAGGGGCAG | gnomAD v4 |
19 | g.38502776_38502777insAGGCAGGGGCAGGGGCAG | CA2584900676 | RYR1 | c.7835+49_7835+50insAGGCAGGGGCAGGGGCAG (n.7835+49_7835+50insAGGCAGGGGCAGGGGCAG) c.7832+49_7832+50insAGGCAGGGGCAGGGGCAG (n.7832+49_7832+50insAGGCAGGGGCAGGGGCAG) c.1287+49_1287+50insAGGCAGGGGCAGGGGCAG n.7918+49_7918+50insAGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502776_38502777insCGGCAGGGGCAGGGGCAG | CA920105567 | RYR1 | c.7835+49_7835+50insCGGCAGGGGCAGGGGCAG (n.7835+49_7835+50insCGGCAGGGGCAGGGGCAG) c.7832+49_7832+50insCGGCAGGGGCAGGGGCAG (n.7832+49_7832+50insCGGCAGGGGCAGGGGCAG) c.1287+49_1287+50insCGGCAGGGGCAGGGGCAG n.7918+49_7918+50insCGGCAGGGGCAGGGGCAG | dbSNP |
19 | g.38502760_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054522 | RYR1 | c.7835+33_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+33_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+33_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+33_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+33_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+33_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | |
19 | g.38502761G>A | CA9415853 | RYR1 | c.7835+34G>A (n.7835+34G>A) c.7832+34G>A (n.7832+34G>A) c.1287+34G>A n.7918+34G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502761G>C | CA633066232 | RYR1 | c.7835+34G>C (n.7835+34G>C) c.7832+34G>C (n.7832+34G>C) c.1287+34G>C n.7918+34G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502761G= | CA2335054524 | RYR1 | c.7835+34G= (n.7835+34G=) c.7832+34G= (n.7832+34G=) c.1287+34G= n.7918+34G= | |
19 | g.38502761_38502762del | CA633066230 | RYR1 | c.7835+34_7835+35del (n.7835+34_7835+35del) c.7832+34_7832+35del (n.7832+34_7832+35del) c.1287+34_1287+35del n.7918+34_7918+35del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502761_38502763delinsGCA | CA2335054526 | RYR1 | c.7835+34_7835+36delinsGCA (n.7835+34_7835+36delinsGCA) c.7832+34_7832+36delinsGCA (n.7832+34_7832+36delinsGCA) c.1287+34_1287+36delinsGCA n.7918+34_7918+36delinsGCA | |
19 | g.38502765_38502766insAGCAGG | CA633066231 | RYR1 | c.7835+38_7835+39insAGCAGG (n.7835+38_7835+39insAGCAGG) c.7832+38_7832+39insAGCAGG (n.7832+38_7832+39insAGCAGG) c.1287+38_1287+39insAGCAGG n.7918+38_7918+39insAGCAGG | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502761_38502768del | CA2584900678 | RYR1 | c.7835+34_7835+41del (n.7835+34_7835+41del) c.7832+34_7832+41del (n.7832+34_7832+41del) c.1287+34_1287+41del n.7918+34_7918+41del | gnomAD v4 |
19 | g.38502771_38502772insAGCAGGGGCAGG | CA633066229 | RYR1 | c.7835+44_7835+45insAGCAGGGGCAGG (n.7835+44_7835+45insAGCAGGGGCAGG) c.7832+44_7832+45insAGCAGGGGCAGG (n.7832+44_7832+45insAGCAGGGGCAGG) c.1287+44_1287+45insAGCAGGGGCAGG n.7918+44_7918+45insAGCAGGGGCAGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502761_38502798delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | CA2335054525 | RYR1 | c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.7832+34_7832+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7832+34_7832+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.1287+34_1287+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC n.7918+34_7918+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | |
19 | g.38502777_38502830del | CA9415852 | RYR1 | c.7835+50_7836-50del (n.7835+50_7836-50del) c.7832+50_7833-50del (n.7832+50_7833-50del) c.1287+50_1288-50del n.7918+50_7919-50del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502762C>A | CA2584900679 | RYR1 | c.7835+35C>A (n.7835+35C>A) c.7832+35C>A (n.7832+35C>A) c.1287+35C>A n.7918+35C>A | gnomAD v4 |
19 | g.38502762C= | CA2335054527 | RYR1 | c.7835+35C= (n.7835+35C=) c.7832+35C= (n.7832+35C=) c.1287+35C= n.7918+35C= | |
19 | g.38502762C>G | CA9415857 | RYR1 | c.7835+35C>G (n.7835+35C>G) c.7832+35C>G (n.7832+35C>G) c.1287+35C>G n.7918+35C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502762C>T | CA633066233 | RYR1 | c.7835+35C>T (n.7835+35C>T) c.7832+35C>T (n.7832+35C>T) c.1287+35C>T n.7918+35C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502762_38502763insTTC | CA2584900680 | RYR1 | c.7835+35_7835+36insTTC (n.7835+35_7835+36insTTC) c.7832+35_7832+36insTTC (n.7832+35_7832+36insTTC) c.1287+35_1287+36insTTC n.7918+35_7918+36insTTC | gnomAD v4 |
19 | g.38502762_38502763del | CA9415854 | RYR1 | c.7835+35_7835+36del (n.7835+35_7835+36del) c.7832+35_7832+36del (n.7832+35_7832+36del) c.1287+35_1287+36del n.7918+35_7918+36del | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38502766_38502767insACAGGG | CA633066234 | RYR1 | c.7835+39_7835+40insACAGGG (n.7835+39_7835+40insACAGGG) c.7832+39_7832+40insACAGGG (n.7832+39_7832+40insACAGGG) c.1287+39_1287+40insACAGGG n.7918+39_7918+40insACAGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502772_38502773insACAGGGGCAGGG | CA2584900681 | RYR1 | c.7835+45_7835+46insACAGGGGCAGGG (n.7835+45_7835+46insACAGGGGCAGGG) c.7832+45_7832+46insACAGGGGCAGGG (n.7832+45_7832+46insACAGGGGCAGGG) c.1287+45_1287+46insACAGGGGCAGGG n.7918+45_7918+46insACAGGGGCAGGG | gnomAD v4 |
19 | g.38502762_38502798del | CA9415855 | RYR1 | c.7835+35_7835+71del (n.7835+35_7835+71del) c.7832+35_7832+71del (n.7832+35_7832+71del) c.1287+35_1287+71del n.7918+35_7918+71del | dbSNP ExAC |
19 | g.38502762_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG | CA2335054528 | RYR1 | c.7835+35_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+35_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG) c.7832+35_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+35_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG) c.1287+35_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG n.7918+35_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG | |
19 | g.38502763A= | CA2335054531 | RYR1 | c.7835+36A= (n.7835+36A=) c.7832+36A= (n.7832+36A=) c.1287+36A= n.7918+36A= | |
19 | g.38502763A>C | CA995717650 | RYR1 | c.7835+36A>C (n.7835+36A>C) c.7832+36A>C (n.7832+36A>C) c.1287+36A>C n.7918+36A>C | gnomAD v3 gnomAD v4 |
19 | g.38502763A>T | CA9415858 | RYR1 | c.7835+36A>T (n.7835+36A>T) c.7832+36A>T (n.7832+36A>T) c.1287+36A>T n.7918+36A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502763_38502765delinsAGG | CA2335054530 | RYR1 | c.7835+36_7835+38delinsAGG (n.7835+36_7835+38delinsAGG) c.7832+36_7832+38delinsAGG (n.7832+36_7832+38delinsAGG) c.1287+36_1287+38delinsAGG n.7918+36_7918+38delinsAGG | |
19 | g.38502763_38502767delinsAGGGG | CA2335054529 | RYR1 | c.7835+36_7835+40delinsAGGGG (n.7835+36_7835+40delinsAGGGG) c.7832+36_7832+40delinsAGGGG (n.7832+36_7832+40delinsAGGGG) c.1287+36_1287+40delinsAGGGG n.7918+36_7918+40delinsAGGGG | |
19 | g.38502763_38502772delinsAGGGGCAGGG | CA2335054533 | RYR1 | c.7835+36_7835+45delinsAGGGGCAGGG (n.7835+36_7835+45delinsAGGGGCAGGG) c.7832+36_7832+45delinsAGGGGCAGGG (n.7832+36_7832+45delinsAGGGGCAGGG) c.1287+36_1287+45delinsAGGGGCAGGG n.7918+36_7918+45delinsAGGGGCAGGG | |
19 | g.38502763_38502773delinsAGGGGCAGGGG | CA2335054532 | RYR1 | c.7835+36_7835+46delinsAGGGGCAGGGG (n.7835+36_7835+46delinsAGGGGCAGGGG) c.7832+36_7832+46delinsAGGGGCAGGGG (n.7832+36_7832+46delinsAGGGGCAGGGG) c.1287+36_1287+46delinsAGGGGCAGGGG n.7918+36_7918+46delinsAGGGGCAGGGG | |
19 | g.38502773_38502774insTAGGGGCAGGGG | CA2584900682 | RYR1 | c.7835+46_7835+47insTAGGGGCAGGGG (n.7835+46_7835+47insTAGGGGCAGGGG) c.7832+46_7832+47insTAGGGGCAGGGG (n.7832+46_7832+47insTAGGGGCAGGGG) c.1287+46_1287+47insTAGGGGCAGGGG n.7918+46_7918+47insTAGGGGCAGGGG | gnomAD v4 |
19 | g.38502791_38502792insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA633066235 | RYR1 | c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7918+64_7918+65insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2584900683 | RYR1 | c.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1287+70_1287+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7918+70_7918+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502803_38502804insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA995717647 | RYR1 | c.7836-77_7836-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-77_7833-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-77_1288-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-77_7919-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA995717646 | RYR1 | c.7836-71_7836-70insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502766_38502813del | CA9415856 | RYR1 | c.7835+39_7836-67del (n.7835+39_7836-67del) c.7832+39_7833-67del (n.7832+39_7833-67del) c.1287+39_1288-67del n.7918+39_7919-67del | dbSNP ExAC |
19 | g.38502764G>A | CA882054013 | RYR1 | c.7835+37G>A (n.7835+37G>A) c.7832+37G>A (n.7832+37G>A) c.1287+37G>A n.7918+37G>A | dbSNP gnomAD v4 |
19 | g.38502764G>C | CA633066238 | RYR1 | c.7835+37G>C (n.7835+37G>C) c.7832+37G>C (n.7832+37G>C) c.1287+37G>C n.7918+37G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502764G= | CA2335054534 | RYR1 | c.7835+37G= (n.7835+37G=) c.7832+37G= (n.7832+37G=) c.1287+37G= n.7918+37G= | |
19 | g.38502765_38502766insCTTCAGGGTGG | CA2584900684 | RYR1 | c.7835+38_7835+39insCTTCAGGGTGG (n.7835+38_7835+39insCTTCAGGGTGG) c.7832+38_7832+39insCTTCAGGGTGG (n.7832+38_7832+39insCTTCAGGGTGG) c.1287+38_1287+39insCTTCAGGGTGG n.7918+38_7918+39insCTTCAGGGTGG | gnomAD v4 |
19 | g.38502764_38502767del | CA995717690 | RYR1 | c.7835+37_7835+40del (n.7835+37_7835+40del) c.7832+37_7832+40del (n.7832+37_7832+40del) c.1287+37_1287+40del n.7918+37_7918+40del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502767dup | CA2335054539 | RYR1 | c.7835+40dup (n.7835+40dup) c.7832+40dup (n.7832+40dup) c.1287+40dup n.7918+40dup | dbSNP |
19 | g.38502766_38502767del | CA995717688 | RYR1 | c.7835+39_7835+40del (n.7835+39_7835+40del) c.7832+39_7832+40del (n.7832+39_7832+40del) c.1287+39_1287+40del n.7918+39_7918+40del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502765_38502767del | CA2584900686 | RYR1 | c.7835+38_7835+40del (n.7835+38_7835+40del) c.7832+38_7832+40del (n.7832+38_7832+40del) c.1287+38_1287+40del n.7918+38_7918+40del | gnomAD v4 |
19 | g.38502764_38502768delinsGGGGC | CA2335054536 | RYR1 | c.7835+37_7835+41delinsGGGGC (n.7835+37_7835+41delinsGGGGC) c.7832+37_7832+41delinsGGGGC (n.7832+37_7832+41delinsGGGGC) c.1287+37_1287+41delinsGGGGC n.7918+37_7918+41delinsGGGGC | |
19 | g.38502768_38502769insCGGGGC | CA2814347015 | RYR1 | c.7835+41_7835+42insCGGGGC (n.7835+41_7835+42insCGGGGC) c.7832+41_7832+42insCGGGGC (n.7832+41_7832+42insCGGGGC) c.1287+41_1287+42insCGGGGC n.7918+41_7918+42insCGGGGC | |
19 | g.38502768_38502769insGGGGGC | CA995717686 | RYR1 | c.7835+41_7835+42insGGGGGC (n.7835+41_7835+42insGGGGGC) c.7832+41_7832+42insGGGGGC (n.7832+41_7832+42insGGGGGC) c.1287+41_1287+42insGGGGGC n.7918+41_7918+42insGGGGGC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502764_38502769delinsGGGGCA | CA2335054535 | RYR1 | c.7835+37_7835+42delinsGGGGCA (n.7835+37_7835+42delinsGGGGCA) c.7832+37_7832+42delinsGGGGCA (n.7832+37_7832+42delinsGGGGCA) c.1287+37_1287+42delinsGGGGCA n.7918+37_7918+42delinsGGGGCA | |
19 | g.38502764_38502773del | CA633066236 | RYR1 | c.7835+37_7835+46del (n.7835+37_7835+46del) c.7832+37_7832+46del (n.7832+37_7832+46del) c.1287+37_1287+46del n.7918+37_7918+46del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502766_38502773del | CA9415859 | RYR1 | c.7835+39_7835+46del (n.7835+39_7835+46del) c.7832+39_7832+46del (n.7832+39_7832+46del) c.1287+39_1287+46del n.7918+39_7918+46del | dbSNP ExAC gnomAD v4 |
19 | g.38502765_38502773del | CA995717691 | RYR1 | c.7835+38_7835+46del (n.7835+38_7835+46del) c.7832+38_7832+46del (n.7832+38_7832+46del) c.1287+38_1287+46del n.7918+38_7918+46del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502764_38502775delinsGGGGCAGGGGCA | CA2335054537 | RYR1 | c.7835+37_7835+48delinsGGGGCAGGGGCA (n.7835+37_7835+48delinsGGGGCAGGGGCA) c.7832+37_7832+48delinsGGGGCAGGGGCA (n.7832+37_7832+48delinsGGGGCAGGGGCA) c.1287+37_1287+48delinsGGGGCAGGGGCA n.7918+37_7918+48delinsGGGGCAGGGGCA | |
19 | g.38502766_38502779del | CA2582145375 | RYR1 | c.7835+39_7835+52del (n.7835+39_7835+52del) c.7832+39_7832+52del (n.7832+39_7832+52del) c.1287+39_1287+52del n.7918+39_7918+52del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502765_38502779del | CA2584900685 | RYR1 | c.7835+38_7835+52del (n.7835+38_7835+52del) c.7832+38_7832+52del (n.7832+38_7832+52del) c.1287+38_1287+52del n.7918+38_7918+52del | gnomAD v4 |
19 | g.38502789_38502790insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG | CA633066237 | RYR1 | c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG) c.7832+62_7832+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+62_7832+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG) c.1287+62_1287+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG n.7918+62_7918+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502764_38502804delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | CA2335054538 | RYR1 | c.7835+37_7836-76delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7835+37_7836-76delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.7832+37_7833-76delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7832+37_7833-76delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.1287+37_1288-76delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC n.7918+37_7919-76delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | |
19 | g.38502764_38502765insCAGAGC | CA2584900687 | RYR1 | c.7835+37_7835+38insCAGAGC (n.7835+37_7835+38insCAGAGC) c.7832+37_7832+38insCAGAGC (n.7832+37_7832+38insCAGAGC) c.1287+37_1287+38insCAGAGC n.7918+37_7918+38insCAGAGC | gnomAD v4 |
19 | g.38502765G>A | CA9415864 | RYR1 | c.7835+38G>A (n.7835+38G>A) c.7832+38G>A (n.7832+38G>A) c.1287+38G>A n.7918+38G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502765G= | CA2335054540 | RYR1 | c.7835+38G= (n.7835+38G=) c.7832+38G= (n.7832+38G=) c.1287+38G= n.7918+38G= | |
19 | g.38502765G>T | CA995717697 | RYR1 | c.7835+38G>T (n.7835+38G>T) c.7832+38G>T (n.7832+38G>T) c.1287+38G>T n.7918+38G>T | gnomAD v3 gnomAD v4 |
19 | g.38502765_38502768del | CA9415860 | RYR1 | c.7835+38_7835+41del (n.7835+38_7835+41del) c.7832+38_7832+41del (n.7832+38_7832+41del) c.1287+38_1287+41del n.7918+38_7918+41del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502765_38502768delinsGGGC | CA2335054541 | RYR1 | c.7835+38_7835+41delinsGGGC (n.7835+38_7835+41delinsGGGC) c.7832+38_7832+41delinsGGGC (n.7832+38_7832+41delinsGGGC) c.1287+38_1287+41delinsGGGC n.7918+38_7918+41delinsGGGC | |
19 | g.38502769_38502770insAGGGCA | CA633066239 | RYR1 | c.7835+42_7835+43insAGGGCA (n.7835+42_7835+43insAGGGCA) c.7832+42_7832+43insAGGGCA (n.7832+42_7832+43insAGGGCA) c.1287+42_1287+43insAGGGCA n.7918+42_7918+43insAGGGCA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502769_38502770insCGGGCA | CA2576771116 | RYR1 | c.7835+42_7835+43insCGGGCA (n.7835+42_7835+43insCGGGCA) c.7832+42_7832+43insCGGGCA (n.7832+42_7832+43insCGGGCA) c.1287+42_1287+43insCGGGCA n.7918+42_7918+43insCGGGCA | |
19 | g.38502768_38502772dup | CA2584900691 | RYR1 | c.7835+41_7835+45dup (n.7835+41_7835+45dup) c.7832+41_7832+45dup (n.7832+41_7832+45dup) c.1287+41_1287+45dup n.7918+41_7918+45dup | gnomAD v4 |
19 | g.38502768_38502772del | CA9415863 | RYR1 | c.7835+41_7835+45del (n.7835+41_7835+45del) c.7832+41_7832+45del (n.7832+41_7832+45del) c.1287+41_1287+45del n.7918+41_7918+45del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502768_38502778del | CA9415862 | RYR1 | c.7835+41_7835+51del (n.7835+41_7835+51del) c.7832+41_7832+51del (n.7832+41_7832+51del) c.1287+41_1287+51del n.7918+41_7918+51del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502765_38502780del | CA2584900689 | RYR1 | c.7835+38_7835+53del (n.7835+38_7835+53del) c.7832+38_7832+53del (n.7832+38_7832+53del) c.1287+38_1287+53del n.7918+38_7918+53del | gnomAD v4 |
19 | g.38502765_38502792del | CA2584900688 | RYR1 | c.7835+38_7835+65del (n.7835+38_7835+65del) c.7832+38_7832+65del (n.7832+38_7832+65del) c.1287+38_1287+65del n.7918+38_7918+65del | gnomAD v4 |
19 | g.38502799_38502800insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA | CA2584900690 | RYR1 | c.7835+72_7835+73insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA (n.7835+72_7835+73insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA) c.7832+72_7832+73insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA (n.7832+72_7832+73insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA) c.1287+72_1287+73insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA n.7918+72_7918+73insCGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA | gnomAD v4 |
19 | g.38502765_38502804del | CA9415861 | RYR1 | c.7835+38_7836-76del (n.7835+38_7836-76del) c.7832+38_7833-76del (n.7832+38_7833-76del) c.1287+38_1288-76del n.7918+38_7919-76del | dbSNP ExAC gnomAD v4 |
19 | g.38502765_38502816del | CA995717699 | RYR1 | c.7835+38_7836-64del (n.7835+38_7836-64del) c.7832+38_7833-64del (n.7832+38_7833-64del) c.1287+38_1288-64del n.7918+38_7919-64del | gnomAD v3 gnomAD v4 |
19 | g.38502765_38502766insT | CA2576771117 | RYR1 | c.7835+38_7835+39insT (n.7835+38_7835+39insT) c.7832+38_7832+39insT (n.7832+38_7832+39insT) c.1287+38_1287+39insT n.7918+38_7918+39insT | |
19 | g.38502765_38502766insCTTCA | CA9415866 | RYR1 | c.7835+38_7835+39insCTTCA (n.7835+38_7835+39insCTTCA) c.7832+38_7832+39insCTTCA (n.7832+38_7832+39insCTTCA) c.1287+38_1287+39insCTTCA n.7918+38_7918+39insCTTCA | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502766G>A | CA9415869 | RYR1 | c.7835+39G>A (n.7835+39G>A) c.7832+39G>A (n.7832+39G>A) c.1287+39G>A n.7918+39G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502766G>C | CA2843385055 | RYR1 | c.7835+39G>C (n.7835+39G>C) c.7832+39G>C (n.7832+39G>C) c.1287+39G>C n.7918+39G>C | |
19 | g.38502766G= | CA2335054542 | RYR1 | c.7835+39G= (n.7835+39G=) c.7832+39G= (n.7832+39G=) c.1287+39G= n.7918+39G= | |
19 | g.38502766G>T | CA995717714 | RYR1 | c.7835+39G>T (n.7835+39G>T) c.7832+39G>T (n.7832+39G>T) c.1287+39G>T n.7918+39G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502766_38502768del | CA9415865 | RYR1 | c.7835+39_7835+41del (n.7835+39_7835+41del) c.7832+39_7832+41del (n.7832+39_7832+41del) c.1287+39_1287+41del n.7918+39_7918+41del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502770_38502771insAGGCAG | CA995717706 | RYR1 | c.7835+43_7835+44insAGGCAG (n.7835+43_7835+44insAGGCAG) c.7832+43_7832+44insAGGCAG (n.7832+43_7832+44insAGGCAG) c.1287+43_1287+44insAGGCAG n.7918+43_7918+44insAGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502770_38502771insCGGCAG | CA9415867 | RYR1 | c.7835+43_7835+44insCGGCAG (n.7835+43_7835+44insCGGCAG) c.7832+43_7832+44insCGGCAG (n.7832+43_7832+44insCGGCAG) c.1287+43_1287+44insCGGCAG n.7918+43_7918+44insCGGCAG | dbSNP ExAC |
19 | g.38502770_38502771insCAGAGGCAG | CA2814347021 | RYR1 | c.7835+43_7835+44insCAGAGGCAG (n.7835+43_7835+44insCAGAGGCAG) c.7832+43_7832+44insCAGAGGCAG (n.7832+43_7832+44insCAGAGGCAG) c.1287+43_1287+44insCAGAGGCAG n.7918+43_7918+44insCAGAGGCAG | |
19 | g.38502782_38502783insAGGCAGGGGCAGGGGCAG | CA2584900693 | RYR1 | c.7835+55_7835+56insAGGCAGGGGCAGGGGCAG (n.7835+55_7835+56insAGGCAGGGGCAGGGGCAG) c.7832+55_7832+56insAGGCAGGGGCAGGGGCAG (n.7832+55_7832+56insAGGCAGGGGCAGGGGCAG) c.1287+55_1287+56insAGGCAGGGGCAGGGGCAG n.7918+55_7918+56insAGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502782_38502783insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG | CA2814347023 | RYR1 | c.7835+55_7835+56insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG (n.7835+55_7835+56insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG) c.7832+55_7832+56insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG (n.7832+55_7832+56insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG) c.1287+55_1287+56insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG n.7918+55_7918+56insAGGCAGGGGCAGGGGCAGAGGCAGGGGCAGGGGCAG | |
19 | g.38502788_38502789insCGGCAGGGGCAGGGGCAGGGGCAG | CA2584900692 | RYR1 | c.7835+61_7835+62insCGGCAGGGGCAGGGGCAGGGGCAG (n.7835+61_7835+62insCGGCAGGGGCAGGGGCAGGGGCAG) c.7832+61_7832+62insCGGCAGGGGCAGGGGCAGGGGCAG (n.7832+61_7832+62insCGGCAGGGGCAGGGGCAGGGGCAG) c.1287+61_1287+62insCGGCAGGGGCAGGGGCAGGGGCAG n.7918+61_7918+62insCGGCAGGGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502806_38502807insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG | CA995717710 | RYR1 | c.7836-74_7836-73insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7836-74_7836-73insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG) c.7833-74_7833-73insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG (n.7833-74_7833-73insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG) c.1288-74_1288-73insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG n.7919-74_7919-73insTGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502766_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054543 | RYR1 | c.7835+39_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+39_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+39_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+39_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+39_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+39_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | |
19 | g.38502767G>A | CA995717719 | RYR1 | c.7835+40G>A (n.7835+40G>A) c.7832+40G>A (n.7832+40G>A) c.1287+40G>A n.7918+40G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502767G= | CA2335054545 | RYR1 | c.7835+40G= (n.7835+40G=) c.7832+40G= (n.7832+40G=) c.1287+40G= n.7918+40G= | |
19 | g.38502767G>T | CA2584900694 | RYR1 | c.7835+40G>T (n.7835+40G>T) c.7832+40G>T (n.7832+40G>T) c.1287+40G>T n.7918+40G>T | gnomAD v4 |
19 | g.38502767_38502768del | CA2584900695 | RYR1 | c.7835+40_7835+41del (n.7835+40_7835+41del) c.7832+40_7832+41del (n.7832+40_7832+41del) c.1287+40_1287+41del n.7918+40_7918+41del | gnomAD v4 |
19 | g.38502767_38502769delinsGCA | CA2335054544 | RYR1 | c.7835+40_7835+42delinsGCA (n.7835+40_7835+42delinsGCA) c.7832+40_7832+42delinsGCA (n.7832+40_7832+42delinsGCA) c.1287+40_1287+42delinsGCA n.7918+40_7918+42delinsGCA | |
19 | g.38502771_38502772insAGCAGG | CA633066240 | RYR1 | c.7835+44_7835+45insAGCAGG (n.7835+44_7835+45insAGCAGG) c.7832+44_7832+45insAGCAGG (n.7832+44_7832+45insAGCAGG) c.1287+44_1287+45insAGCAGG n.7918+44_7918+45insAGCAGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502795_38502796insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG | CA2584900696 | RYR1 | c.7835+68_7835+69insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7835+68_7835+69insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG) c.7832+68_7832+69insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG (n.7832+68_7832+69insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG) c.1287+68_1287+69insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG n.7918+68_7918+69insAGCAGGGGCAGGGGCAGGGGCAGGGGCAGG | gnomAD v4 |
19 | g.38502783_38502830del | CA9415868 | RYR1 | c.7835+56_7836-50del (n.7835+56_7836-50del) c.7832+56_7833-50del (n.7832+56_7833-50del) c.1287+56_1288-50del n.7918+56_7919-50del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502768C>A | CA995717724 | RYR1 | c.7835+41C>A (n.7835+41C>A) c.7832+41C>A (n.7832+41C>A) c.1287+41C>A n.7918+41C>A | gnomAD v3 gnomAD v4 |
19 | g.38502768C= | CA2335054546 | RYR1 | c.7835+41C= (n.7835+41C=) c.7832+41C= (n.7832+41C=) c.1287+41C= n.7918+41C= | |
19 | g.38502768C>G | CA9415872 | RYR1 | c.7835+41C>G (n.7835+41C>G) c.7832+41C>G (n.7832+41C>G) c.1287+41C>G n.7918+41C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502768C>T | CA633066241 | RYR1 | c.7835+41C>T (n.7835+41C>T) c.7832+41C>T (n.7832+41C>T) c.1287+41C>T n.7918+41C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502768_38502769del | CA070499 | RYR1 | c.7835+41_7835+42del (n.7835+41_7835+42del) c.7832+41_7832+42del (n.7832+41_7832+42del) c.1287+41_1287+42del n.7918+41_7918+42del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502768_38502769delinsCA | CA2335054548 | RYR1 | c.7835+41_7835+42delinsCA (n.7835+41_7835+42delinsCA) c.7832+41_7832+42delinsCA (n.7832+41_7832+42delinsCA) c.1287+41_1287+42delinsCA n.7918+41_7918+42delinsCA | |
19 | g.38502772_38502773insACAGGG | CA2584900697 | RYR1 | c.7835+45_7835+46insACAGGG (n.7835+45_7835+46insACAGGG) c.7832+45_7832+46insACAGGG (n.7832+45_7832+46insACAGGG) c.1287+45_1287+46insACAGGG n.7918+45_7918+46insACAGGG | gnomAD v4 |
19 | g.38502768_38502776delinsCAGGGGCAG | CA2335054547 | RYR1 | c.7835+41_7835+49delinsCAGGGGCAG (n.7835+41_7835+49delinsCAGGGGCAG) c.7832+41_7832+49delinsCAGGGGCAG (n.7832+41_7832+49delinsCAGGGGCAG) c.1287+41_1287+49delinsCAGGGGCAG n.7918+41_7918+49delinsCAGGGGCAG | |
19 | g.38502778_38502779insTCAGGGGCAGGG | CA2584900699 | RYR1 | c.7835+51_7835+52insTCAGGGGCAGGG (n.7835+51_7835+52insTCAGGGGCAGGG) c.7832+51_7832+52insTCAGGGGCAGGG (n.7832+51_7832+52insTCAGGGGCAGGG) c.1287+51_1287+52insTCAGGGGCAGGG n.7918+51_7918+52insTCAGGGGCAGGG | gnomAD v4 |
19 | g.38502796_38502797insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG | CA2814347027 | RYR1 | c.7835+69_7835+70insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG (n.7835+69_7835+70insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG) c.7832+69_7832+70insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG (n.7832+69_7832+70insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG) c.1287+69_1287+70insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG n.7918+69_7918+70insACAGGGGCAGGGGCAGGGGCAGGGGCAGGG | |
19 | g.38502802_38502803insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG | CA2584900698 | RYR1 | c.7835+75_7836-77insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG (n.7835+75_7836-77insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG) c.7832+75_7833-77insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG (n.7832+75_7833-77insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG) c.1287+75_1288-77insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG n.7918+75_7919-77insACAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGG | gnomAD v4 |
19 | g.38502768_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG | CA2335054549 | RYR1 | c.7835+41_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+41_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG) c.7832+41_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+41_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG) c.1287+41_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG n.7918+41_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG | |
19 | g.38502769del | CA995717759 | RYR1 | c.7835+42del (n.7835+42del) c.7832+42del (n.7832+42del) c.1287+42del n.7918+42del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502769A= | CA2335054552 | RYR1 | c.7835+42A= (n.7835+42A=) c.7832+42A= (n.7832+42A=) c.1287+42A= n.7918+42A= | |
19 | g.38502769A>C | CA2814347033 | RYR1 | c.7835+42A>C (n.7835+42A>C) c.7832+42A>C (n.7832+42A>C) c.1287+42A>C n.7918+42A>C | |
19 | g.38502769A>G | CA882054038 | RYR1 | c.7835+42A>G (n.7835+42A>G) c.7832+42A>G (n.7832+42A>G) c.1287+42A>G n.7918+42A>G | dbSNP |
19 | g.38502769A>T | CA9415876 | RYR1 | c.7835+42A>T (n.7835+42A>T) c.7832+42A>T (n.7832+42A>T) c.1287+42A>T n.7918+42A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502769_38502771delinsAGG | CA2335054550 | RYR1 | c.7835+42_7835+44delinsAGG (n.7835+42_7835+44delinsAGG) c.7832+42_7832+44delinsAGG (n.7832+42_7832+44delinsAGG) c.1287+42_1287+44delinsAGG n.7918+42_7918+44delinsAGG | |
19 | g.38502769_38502773del | CA2814347031 | RYR1 | c.7835+42_7835+46del (n.7835+42_7835+46del) c.7832+42_7832+46del (n.7832+42_7832+46del) c.1287+42_1287+46del n.7918+42_7918+46del | |
19 | g.38502773_38502774insGAGGGG | CA2584900701 | RYR1 | c.7835+46_7835+47insGAGGGG (n.7835+46_7835+47insGAGGGG) c.7832+46_7832+47insGAGGGG (n.7832+46_7832+47insGAGGGG) c.1287+46_1287+47insGAGGGG n.7918+46_7918+47insGAGGGG | gnomAD v4 |
19 | g.38502773_38502774insTAGGGG | CA2584900700 | RYR1 | c.7835+46_7835+47insTAGGGG (n.7835+46_7835+47insTAGGGG) c.7832+46_7832+47insTAGGGG (n.7832+46_7832+47insTAGGGG) c.1287+46_1287+47insTAGGGG n.7918+46_7918+47insTAGGGG | gnomAD v4 |
19 | g.38502769_38502776del | CA995717736 | RYR1 | c.7835+42_7835+49del (n.7835+42_7835+49del) c.7832+42_7832+49del (n.7832+42_7832+49del) c.1287+42_1287+49del n.7918+42_7918+49del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502769_38502778delinsAGGGGCAGGG | CA2335054551 | RYR1 | c.7835+42_7835+51delinsAGGGGCAGGG (n.7835+42_7835+51delinsAGGGGCAGGG) c.7832+42_7832+51delinsAGGGGCAGGG (n.7832+42_7832+51delinsAGGGGCAGGG) c.1287+42_1287+51delinsAGGGGCAGGG n.7918+42_7918+51delinsAGGGGCAGGG | |
19 | g.38502779_38502780insTAGGGGCAGGGG | CA2335054554 | RYR1 | c.7835+52_7835+53insTAGGGGCAGGGG (n.7835+52_7835+53insTAGGGGCAGGGG) c.7832+52_7832+53insTAGGGGCAGGGG (n.7832+52_7832+53insTAGGGGCAGGGG) c.1287+52_1287+53insTAGGGGCAGGGG n.7918+52_7918+53insTAGGGGCAGGGG | dbSNP |
19 | g.38502769_38502784delinsAGGGGCAGGGGCAGGG | CA2335054553 | RYR1 | c.7835+42_7835+57delinsAGGGGCAGGGGCAGGG (n.7835+42_7835+57delinsAGGGGCAGGGGCAGGG) c.7832+42_7832+57delinsAGGGGCAGGGGCAGGG (n.7832+42_7832+57delinsAGGGGCAGGGGCAGGG) c.1287+42_1287+57delinsAGGGGCAGGGGCAGGG n.7918+42_7918+57delinsAGGGGCAGGGGCAGGG | |
19 | g.38502785_38502786insTAGGGGCAGGGGCAGGGG | CA633066242 | RYR1 | c.7835+58_7835+59insTAGGGGCAGGGGCAGGGG (n.7835+58_7835+59insTAGGGGCAGGGGCAGGGG) c.7832+58_7832+59insTAGGGGCAGGGGCAGGGG (n.7832+58_7832+59insTAGGGGCAGGGGCAGGGG) c.1287+58_1287+59insTAGGGGCAGGGGCAGGGG n.7918+58_7918+59insTAGGGGCAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insTAGGGGCAGGGGCAGGGGCAGGGG | CA9415871 | RYR1 | c.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGCAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGCAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGCAGGGGCAGGGGCAGGGG n.7918+64_7918+65insTAGGGGCAGGGGCAGGGGCAGGGG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG | CA995717732 | RYR1 | c.7835+64_7835+65insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG n.7918+64_7918+65insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG | CA2584900702 | RYR1 | c.7835+64_7835+65insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG n.7918+64_7918+65insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502797_38502798insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA995717769 | RYR1 | c.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1287+70_1287+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7918+70_7918+71insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA995717767 | RYR1 | c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7832+70_7832+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1287+70_1287+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7918+70_7918+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA995717772 | RYR1 | c.7836-77_7836-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-77_7833-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-77_1288-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-77_7919-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502772_38502813del | CA9415870 | RYR1 | c.7835+45_7836-67del (n.7835+45_7836-67del) c.7832+45_7833-67del (n.7832+45_7833-67del) c.1287+45_1288-67del n.7918+45_7919-67del | dbSNP ExAC |
19 | g.38502770G>A | CA9415877 | RYR1 | c.7835+43G>A (n.7835+43G>A) c.7832+43G>A (n.7832+43G>A) c.1287+43G>A n.7918+43G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502770G>C | CA633066244 | RYR1 | c.7835+43G>C (n.7835+43G>C) c.7832+43G>C (n.7832+43G>C) c.1287+43G>C n.7918+43G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502770G= | CA2335054557 | RYR1 | c.7835+43G= (n.7835+43G=) c.7832+43G= (n.7832+43G=) c.1287+43G= n.7918+43G= | |
19 | g.38502770G>T | CA995717786 | RYR1 | c.7835+43G>T (n.7835+43G>T) c.7832+43G>T (n.7832+43G>T) c.1287+43G>T n.7918+43G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502771_38502772insCTTCAGGGTGG | CA633066243 | RYR1 | c.7835+44_7835+45insCTTCAGGGTGG (n.7835+44_7835+45insCTTCAGGGTGG) c.7832+44_7832+45insCTTCAGGGTGG (n.7832+44_7832+45insCTTCAGGGTGG) c.1287+44_1287+45insCTTCAGGGTGG n.7918+44_7918+45insCTTCAGGGTGG | gnomAD v2 gnomAD v4 |
19 | g.38502770_38502773del | CA2584900704 | RYR1 | c.7835+43_7835+46del (n.7835+43_7835+46del) c.7832+43_7832+46del (n.7832+43_7832+46del) c.1287+43_1287+46del n.7918+43_7918+46del | gnomAD v4 |
19 | g.38502773del | CA995717777 | RYR1 | c.7835+46del (n.7835+46del) c.7832+46del (n.7832+46del) c.1287+46del n.7918+46del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502772_38502773del | CA9415875 | RYR1 | c.7835+45_7835+46del (n.7835+45_7835+46del) c.7832+45_7832+46del (n.7832+45_7832+46del) c.1287+45_1287+46del n.7918+45_7918+46del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502770_38502774del | CA2584900703 | RYR1 | c.7835+43_7835+47del (n.7835+43_7835+47del) c.7832+43_7832+47del (n.7832+43_7832+47del) c.1287+43_1287+47del n.7918+43_7918+47del | gnomAD v4 |
19 | g.38502774_38502775insCGGGGCCGGGGC | CA2814347041 | RYR1 | c.7835+47_7835+48insCGGGGCCGGGGC (n.7835+47_7835+48insCGGGGCCGGGGC) c.7832+47_7832+48insCGGGGCCGGGGC (n.7832+47_7832+48insCGGGGCCGGGGC) c.1287+47_1287+48insCGGGGCCGGGGC n.7918+47_7918+48insCGGGGCCGGGGC | |
19 | g.38502772_38502779del | CA9415874 | RYR1 | c.7835+45_7835+52del (n.7835+45_7835+52del) c.7832+45_7832+52del (n.7832+45_7832+52del) c.1287+45_1287+52del n.7918+45_7918+52del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502771_38502779del | CA633066245 | RYR1 | c.7835+44_7835+52del (n.7835+44_7835+52del) c.7832+44_7832+52del (n.7832+44_7832+52del) c.1287+44_1287+52del n.7918+44_7918+52del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502770_38502780delinsGGGGCAGGGGC | CA2335054556 | RYR1 | c.7835+43_7835+53delinsGGGGCAGGGGC (n.7835+43_7835+53delinsGGGGCAGGGGC) c.7832+43_7832+53delinsGGGGCAGGGGC (n.7832+43_7832+53delinsGGGGCAGGGGC) c.1287+43_1287+53delinsGGGGCAGGGGC n.7918+43_7918+53delinsGGGGCAGGGGC | |
19 | g.38502772_38502785del | CA995717783 | RYR1 | c.7835+45_7835+58del (n.7835+45_7835+58del) c.7832+45_7832+58del (n.7832+45_7832+58del) c.1287+45_1287+58del n.7918+45_7918+58del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502771_38502785del | CA9415873 | RYR1 | c.7835+44_7835+58del (n.7835+44_7835+58del) c.7832+44_7832+58del (n.7832+44_7832+58del) c.1287+44_1287+58del n.7918+44_7918+58del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502770_38502814delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054558 | RYR1 | c.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+43_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+43_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+43_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+43_1288-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+43_7919-66delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | |
19 | g.38502770_38502816delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC | CA2335054555 | RYR1 | c.7835+43_7836-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC (n.7835+43_7836-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC) c.7832+43_7833-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC (n.7832+43_7833-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC) c.1287+43_1288-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC n.7918+43_7919-64delinsGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGC | |
19 | g.38502770_38502771insCAGAGC | CA2584900708 | RYR1 | c.7835+43_7835+44insCAGAGC (n.7835+43_7835+44insCAGAGC) c.7832+43_7832+44insCAGAGC (n.7832+43_7832+44insCAGAGC) c.1287+43_1287+44insCAGAGC n.7918+43_7918+44insCAGAGC | gnomAD v4 |
19 | g.38502771G>A | CA9415881 | RYR1 | c.7835+44G>A (n.7835+44G>A) c.7832+44G>A (n.7832+44G>A) c.1287+44G>A n.7918+44G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502771G>C | CA882054045 | RYR1 | c.7835+44G>C (n.7835+44G>C) c.7832+44G>C (n.7832+44G>C) c.1287+44G>C n.7918+44G>C | dbSNP |
19 | g.38502771G= | CA2335054559 | RYR1 | c.7835+44G= (n.7835+44G=) c.7832+44G= (n.7832+44G=) c.1287+44G= n.7918+44G= | |
19 | g.38502771G>T | CA9415880 | RYR1 | c.7835+44G>T (n.7835+44G>T) c.7832+44G>T (n.7832+44G>T) c.1287+44G>T n.7918+44G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502771_38502774delinsGGGC | CA2335054560 | RYR1 | c.7835+44_7835+47delinsGGGC (n.7835+44_7835+47delinsGGGC) c.7832+44_7832+47delinsGGGC (n.7832+44_7832+47delinsGGGC) c.1287+44_1287+47delinsGGGC n.7918+44_7918+47delinsGGGC | |
19 | g.38502775_38502776insCGGGCA | CA633066246 | RYR1 | c.7835+48_7835+49insCGGGCA (n.7835+48_7835+49insCGGGCA) c.7832+48_7832+49insCGGGCA (n.7832+48_7832+49insCGGGCA) c.1287+48_1287+49insCGGGCA n.7918+48_7918+49insCGGGCA | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502771_38502780del | CA995717793 | RYR1 | c.7835+44_7835+53del (n.7835+44_7835+53del) c.7832+44_7832+53del (n.7832+44_7832+53del) c.1287+44_1287+53del n.7918+44_7918+53del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502771_38502786del | CA2584900707 | RYR1 | c.7835+44_7835+59del (n.7835+44_7835+59del) c.7832+44_7832+59del (n.7832+44_7832+59del) c.1287+44_1287+59del n.7918+44_7918+59del | gnomAD v4 |
19 | g.38502771_38502792del | CA2584900706 | RYR1 | c.7835+44_7835+65del (n.7835+44_7835+65del) c.7832+44_7832+65del (n.7832+44_7832+65del) c.1287+44_1287+65del n.7918+44_7918+65del | gnomAD v4 |
19 | g.38502771_38502798del | CA995717800 | RYR1 | c.7835+44_7835+71del (n.7835+44_7835+71del) c.7832+44_7832+71del (n.7832+44_7832+71del) c.1287+44_1287+71del n.7918+44_7918+71del | gnomAD v3 gnomAD v4 |
19 | g.38502771_38502804del | CA2584900705 | RYR1 | c.7835+44_7836-76del (n.7835+44_7836-76del) c.7832+44_7833-76del (n.7832+44_7833-76del) c.1287+44_1288-76del n.7918+44_7919-76del | gnomAD v4 |
19 | g.38502772_38502815del | CA9415878 | RYR1 | c.7835+45_7836-65del (n.7835+45_7836-65del) c.7832+45_7833-65del (n.7832+45_7833-65del) c.1287+45_1288-65del n.7918+45_7919-65del | dbSNP ExAC gnomAD v4 |
19 | g.38502771_38502816del | CA9415879 | RYR1 | c.7835+44_7836-64del (n.7835+44_7836-64del) c.7832+44_7833-64del (n.7832+44_7833-64del) c.1287+44_1288-64del n.7918+44_7919-64del | dbSNP ExAC |
19 | g.38502771_38502772insA | CA2814347045 | RYR1 | c.7835+44_7835+45insA (n.7835+44_7835+45insA) c.7832+44_7832+45insA (n.7832+44_7832+45insA) c.1287+44_1287+45insA n.7918+44_7918+45insA | |
19 | g.38502771_38502772insCTTCA | CA2576771118 | RYR1 | c.7835+44_7835+45insCTTCA (n.7835+44_7835+45insCTTCA) c.7832+44_7832+45insCTTCA (n.7832+44_7832+45insCTTCA) c.1287+44_1287+45insCTTCA n.7918+44_7918+45insCTTCA | gnomAD v4 |
19 | g.38502772G>A | CA9415884 | RYR1 | c.7835+45G>A (n.7835+45G>A) c.7832+45G>A (n.7832+45G>A) c.1287+45G>A n.7918+45G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502772G>C | CA2576771119 | RYR1 | c.7835+45G>C (n.7835+45G>C) c.7832+45G>C (n.7832+45G>C) c.1287+45G>C n.7918+45G>C | |
19 | g.38502772G= | CA2335054561 | RYR1 | c.7835+45G= (n.7835+45G=) c.7832+45G= (n.7832+45G=) c.1287+45G= n.7918+45G= | |
19 | g.38502772_38502774del | CA9415882 | RYR1 | c.7835+45_7835+47del (n.7835+45_7835+47del) c.7832+45_7832+47del (n.7832+45_7832+47del) c.1287+45_1287+47del n.7918+45_7918+47del | dbSNP ExAC gnomAD v4 |
19 | g.38502772_38502774delinsGGC | CA2335054562 | RYR1 | c.7835+45_7835+47delinsGGC (n.7835+45_7835+47delinsGGC) c.7832+45_7832+47delinsGGC (n.7832+45_7832+47delinsGGC) c.1287+45_1287+47delinsGGC n.7918+45_7918+47delinsGGC | |
19 | g.38502794_38502795insTGGCAGGGGCAGGGGCAGGGGCAG | CA633066247 | RYR1 | c.7835+67_7835+68insTGGCAGGGGCAGGGGCAGGGGCAG (n.7835+67_7835+68insTGGCAGGGGCAGGGGCAGGGGCAG) c.7832+67_7832+68insTGGCAGGGGCAGGGGCAGGGGCAG (n.7832+67_7832+68insTGGCAGGGGCAGGGGCAGGGGCAG) c.1287+67_1287+68insTGGCAGGGGCAGGGGCAGGGGCAG n.7918+67_7918+68insTGGCAGGGGCAGGGGCAGGGGCAG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502772_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054563 | RYR1 | c.7835+45_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+45_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+45_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+45_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+45_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+45_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | |
19 | g.38502773G>A | CA070525 | RYR1 | c.7835+46G>A (n.7835+46G>A) c.7832+46G>A (n.7832+46G>A) c.1287+46G>A n.7918+46G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502773G>C | CA2335054565 | RYR1 | c.7835+46G>C (n.7835+46G>C) c.7832+46G>C (n.7832+46G>C) c.1287+46G>C n.7918+46G>C | dbSNP gnomAD v4 |
19 | g.38502773G= | CA2335054564 | RYR1 | c.7835+46G= (n.7835+46G=) c.7832+46G= (n.7832+46G=) c.1287+46G= n.7918+46G= | |
19 | g.38502773G>T | CA2584900709 | RYR1 | c.7835+46G>T (n.7835+46G>T) c.7832+46G>T (n.7832+46G>T) c.1287+46G>T n.7918+46G>T | gnomAD v4 |
19 | g.38502773_38502774del | CA9415885 | RYR1 | c.7835+46_7835+47del (n.7835+46_7835+47del) c.7832+46_7832+47del (n.7832+46_7832+47del) c.1287+46_1287+47del n.7918+46_7918+47del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502773_38502775delinsGCA | CA2335054566 | RYR1 | c.7835+46_7835+48delinsGCA (n.7835+46_7835+48delinsGCA) c.7832+46_7832+48delinsGCA (n.7832+46_7832+48delinsGCA) c.1287+46_1287+48delinsGCA n.7918+46_7918+48delinsGCA | |
19 | g.38502785_38502786insGAGGAGCAGGGGCAGGGG | CA2584900710 | RYR1 | c.7835+58_7835+59insGAGGAGCAGGGGCAGGGG (n.7835+58_7835+59insGAGGAGCAGGGGCAGGGG) c.7832+58_7832+59insGAGGAGCAGGGGCAGGGG (n.7832+58_7832+59insGAGGAGCAGGGGCAGGGG) c.1287+58_1287+59insGAGGAGCAGGGGCAGGGG n.7918+58_7918+59insGAGGAGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502789_38502830del | CA9415883 | RYR1 | c.7835+62_7836-50del (n.7835+62_7836-50del) c.7832+62_7833-50del (n.7832+62_7833-50del) c.1287+62_1288-50del n.7918+62_7919-50del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502774del | CA2584900712 | RYR1 | c.7835+47del (n.7835+47del) c.7832+47del (n.7832+47del) c.1287+47del n.7918+47del | gnomAD v4 |
19 | g.38502774C>A | CA2584900713 | RYR1 | c.7835+47C>A (n.7835+47C>A) c.7832+47C>A (n.7832+47C>A) c.1287+47C>A n.7918+47C>A | gnomAD v4 |
19 | g.38502774C= | CA2335054568 | RYR1 | c.7835+47C= (n.7835+47C=) c.7832+47C= (n.7832+47C=) c.1287+47C= n.7918+47C= | |
19 | g.38502774C>G | CA633066249 | RYR1 | c.7835+47C>G (n.7835+47C>G) c.7832+47C>G (n.7832+47C>G) c.1287+47C>G n.7918+47C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502774C>T | CA9415887 | RYR1 | c.7835+47C>T (n.7835+47C>T) c.7832+47C>T (n.7832+47C>T) c.1287+47C>T n.7918+47C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502774_38502775insTTC | CA2584900711 | RYR1 | c.7835+47_7835+48insTTC (n.7835+47_7835+48insTTC) c.7832+47_7832+48insTTC (n.7832+47_7832+48insTTC) c.1287+47_1287+48insTTC n.7918+47_7918+48insTTC | gnomAD v4 |
19 | g.38502774_38502775del | CA633066248 | RYR1 | c.7835+47_7835+48del (n.7835+47_7835+48del) c.7832+47_7832+48del (n.7832+47_7832+48del) c.1287+47_1287+48del n.7918+47_7918+48del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502778_38502779insACAGGG | CA920105584 | RYR1 | c.7835+51_7835+52insACAGGG (n.7835+51_7835+52insACAGGG) c.7832+51_7832+52insACAGGG (n.7832+51_7832+52insACAGGG) c.1287+51_1287+52insACAGGG n.7918+51_7918+52insACAGGG | dbSNP |
19 | g.38502778_38502779insTCAGGG | CA633066250 | RYR1 | c.7835+51_7835+52insTCAGGG (n.7835+51_7835+52insTCAGGG) c.7832+51_7832+52insTCAGGG (n.7832+51_7832+52insTCAGGG) c.1287+51_1287+52insTCAGGG n.7918+51_7918+52insTCAGGG | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502774_38502791delinsCAGGGGCAGGGGCAGGGG | CA2335054567 | RYR1 | c.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG (n.7835+47_7835+64delinsCAGGGGCAGGGGCAGGGG) c.7832+47_7832+64delinsCAGGGGCAGGGGCAGGGG (n.7832+47_7832+64delinsCAGGGGCAGGGGCAGGGG) c.1287+47_1287+64delinsCAGGGGCAGGGGCAGGGG n.7918+47_7918+64delinsCAGGGGCAGGGGCAGGGG | |
19 | g.38502774_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG | CA2335054569 | RYR1 | c.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+47_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG) c.7832+47_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+47_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG) c.1287+47_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG n.7918+47_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG | |
19 | g.38502775del | CA2584900714 | RYR1 | c.7835+48del (n.7835+48del) c.7832+48del (n.7832+48del) c.1287+48del n.7918+48del | gnomAD v4 |
19 | g.38502775A= | CA2335054570 | RYR1 | c.7835+48A= (n.7835+48A=) c.7832+48A= (n.7832+48A=) c.1287+48A= n.7918+48A= | |
19 | g.38502775A>C | CA2584900716 | RYR1 | c.7835+48A>C (n.7835+48A>C) c.7832+48A>C (n.7832+48A>C) c.1287+48A>C n.7918+48A>C | dbSNP gnomAD v4 |
19 | g.38502775A>G | CA633066255 | RYR1 | c.7835+48A>G (n.7835+48A>G) c.7832+48A>G (n.7832+48A>G) c.1287+48A>G n.7918+48A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502775A>T | CA633066256 | RYR1 | c.7835+48A>T (n.7835+48A>T) c.7832+48A>T (n.7832+48A>T) c.1287+48A>T n.7918+48A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502775_38502778delinsAGGG | CA2335054573 | RYR1 | c.7835+48_7835+51delinsAGGG (n.7835+48_7835+51delinsAGGG) c.7832+48_7832+51delinsAGGG (n.7832+48_7832+51delinsAGGG) c.1287+48_1287+51delinsAGGG n.7918+48_7918+51delinsAGGG | |
19 | g.38502775_38502779delinsAGGGG | CA2335054572 | RYR1 | c.7835+48_7835+52delinsAGGGG (n.7835+48_7835+52delinsAGGGG) c.7832+48_7832+52delinsAGGGG (n.7832+48_7832+52delinsAGGGG) c.1287+48_1287+52delinsAGGGG n.7918+48_7918+52delinsAGGGG | |
19 | g.38502779_38502780insAAGGGG | CA2584900719 | RYR1 | c.7835+52_7835+53insAAGGGG (n.7835+52_7835+53insAAGGGG) c.7832+52_7832+53insAAGGGG (n.7832+52_7832+53insAAGGGG) c.1287+52_1287+53insAAGGGG n.7918+52_7918+53insAAGGGG | gnomAD v4 |
19 | g.38502779_38502780insGAGGGG | CA633066253 | RYR1 | c.7835+52_7835+53insGAGGGG (n.7835+52_7835+53insGAGGGG) c.7832+52_7832+53insGAGGGG (n.7832+52_7832+53insGAGGGG) c.1287+52_1287+53insGAGGGG n.7918+52_7918+53insGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502779_38502780insTAGGGG | CA2335054574 | RYR1 | c.7835+52_7835+53insTAGGGG (n.7835+52_7835+53insTAGGGG) c.7832+52_7832+53insTAGGGG (n.7832+52_7832+53insTAGGGG) c.1287+52_1287+53insTAGGGG n.7918+52_7918+53insTAGGGG | dbSNP gnomAD v4 |
19 | g.38502779_38502780insGAGGGGGAGGGG | CA2814347055 | RYR1 | c.7835+52_7835+53insGAGGGGGAGGGG (n.7835+52_7835+53insGAGGGGGAGGGG) c.7832+52_7832+53insGAGGGGGAGGGG (n.7832+52_7832+53insGAGGGGGAGGGG) c.1287+52_1287+53insGAGGGGGAGGGG n.7918+52_7918+53insGAGGGGGAGGGG | |
19 | g.38502775_38502782del | CA2814347050 | RYR1 | c.7835+48_7835+55del (n.7835+48_7835+55del) c.7832+48_7832+55del (n.7832+48_7832+55del) c.1287+48_1287+55del n.7918+48_7918+55del | |
19 | g.38502785_38502786insTAGGGGCAGGGG | CA995717831 | RYR1 | c.7835+58_7835+59insTAGGGGCAGGGG (n.7835+58_7835+59insTAGGGGCAGGGG) c.7832+58_7832+59insTAGGGGCAGGGG (n.7832+58_7832+59insTAGGGGCAGGGG) c.1287+58_1287+59insTAGGGGCAGGGG n.7918+58_7918+59insTAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502775_38502787del | CA2814347053 | RYR1 | c.7835+48_7835+60del (n.7835+48_7835+60del) c.7832+48_7832+60del (n.7832+48_7832+60del) c.1287+48_1287+60del n.7918+48_7918+60del | |
19 | g.38502775_38502788del | CA2584900715 | RYR1 | c.7835+48_7835+61del (n.7835+48_7835+61del) c.7832+48_7832+61del (n.7832+48_7832+61del) c.1287+48_1287+61del n.7918+48_7918+61del | gnomAD v4 |
19 | g.38502775_38502791del | CA995717822 | RYR1 | c.7835+48_7835+64del (n.7835+48_7835+64del) c.7832+48_7832+64del (n.7832+48_7832+64del) c.1287+48_1287+64del n.7918+48_7918+64del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insTAGGGGCAGGGGCAGGGG | CA995717828 | RYR1 | c.7835+64_7835+65insTAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGCAGGGGCAGGGG n.7918+64_7918+65insTAGGGGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insTAGGGGTAGGGGCAGGGGCAGGGG | CA633066252 | RYR1 | c.7835+64_7835+65insTAGGGGTAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGTAGGGGCAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGTAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGTAGGGGCAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGTAGGGGCAGGGGCAGGGG n.7918+64_7918+65insTAGGGGTAGGGGCAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG | CA2584900717 | RYR1 | c.7835+64_7835+65insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG n.7918+64_7918+65insTAGGGGCAGGGGTAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502797_38502798insTAGGGGCAGGGGCAGGGGCAGGGG | CA633066251 | RYR1 | c.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGCAGGGGCAGGGGCAGGGG) c.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGCAGGGGCAGGGGCAGGGG) c.1287+70_1287+71insTAGGGGCAGGGGCAGGGGCAGGGG n.7918+70_7918+71insTAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG | CA995717830 | RYR1 | c.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG) c.7832+70_7832+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG) c.1287+70_1287+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG n.7918+70_7918+71insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG | CA995717829 | RYR1 | c.7835+70_7835+71insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG) c.7832+70_7832+71insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG) c.1287+70_1287+71insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG n.7918+70_7918+71insTAGGGGTAGGGGTAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA633066254 | RYR1 | c.7836-77_7836-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-77_7833-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-77_1288-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-77_7919-76insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2584900718 | RYR1 | c.7836-77_7836-76insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-77_7833-76insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-77_1288-76insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-77_7919-76insTAGGGGTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502775_38502809delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2335054571 | RYR1 | c.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7835+48_7836-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7832+48_7833-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7832+48_7833-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1287+48_1288-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7918+48_7919-71delinsAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | |
19 | g.38502809_38502810insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA995717824 | RYR1 | c.7836-71_7836-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502778_38502813del | CA9415886 | RYR1 | c.7835+51_7836-67del (n.7835+51_7836-67del) c.7832+51_7833-67del (n.7832+51_7833-67del) c.1287+51_1288-67del n.7918+51_7919-67del | dbSNP ExAC gnomAD v4 |
19 | g.38502776G>A | CA633066258 | RYR1 | c.7835+49G>A (n.7835+49G>A) c.7832+49G>A (n.7832+49G>A) c.1287+49G>A n.7918+49G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502776G>C | CA633066257 | RYR1 | c.7835+49G>C (n.7835+49G>C) c.7832+49G>C (n.7832+49G>C) c.1287+49G>C n.7918+49G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502776G= | CA2335054575 | RYR1 | c.7835+49G= (n.7835+49G=) c.7832+49G= (n.7832+49G=) c.1287+49G= n.7918+49G= | |
19 | g.38502776G>T | CA2584900721 | RYR1 | c.7835+49G>T (n.7835+49G>T) c.7832+49G>T (n.7832+49G>T) c.1287+49G>T n.7918+49G>T | gnomAD v4 |
19 | g.38502776_38502779del | CA9415888 | RYR1 | c.7835+49_7835+52del (n.7835+49_7835+52del) c.7832+49_7832+52del (n.7832+49_7832+52del) c.1287+49_1287+52del n.7918+49_7918+52del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502779dup | CA2576771120 | RYR1 | c.7835+52dup (n.7835+52dup) c.7832+52dup (n.7832+52dup) c.1287+52dup n.7918+52dup | |
19 | g.38502779del | CA2584900726 | RYR1 | c.7835+52del (n.7835+52del) c.7832+52del (n.7832+52del) c.1287+52del n.7918+52del | gnomAD v4 |
19 | g.38502777_38502779del | CA9415890 | RYR1 | c.7835+50_7835+52del (n.7835+50_7835+52del) c.7832+50_7832+52del (n.7832+50_7832+52del) c.1287+50_1287+52del n.7918+50_7918+52del | dbSNP ExAC gnomAD v4 |
19 | g.38502776_38502780del | CA2584900720 | RYR1 | c.7835+49_7835+53del (n.7835+49_7835+53del) c.7832+49_7832+53del (n.7832+49_7832+53del) c.1287+49_1287+53del n.7918+49_7918+53del | gnomAD v4 |
19 | g.38502780_38502781insCGGGGC | CA2814347062 | RYR1 | c.7835+53_7835+54insCGGGGC (n.7835+53_7835+54insCGGGGC) c.7832+53_7832+54insCGGGGC (n.7832+53_7832+54insCGGGGC) c.1287+53_1287+54insCGGGGC n.7918+53_7918+54insCGGGGC | |
19 | g.38502779_38502785del | CA2584900725 | RYR1 | c.7835+52_7835+58del (n.7835+52_7835+58del) c.7832+52_7832+58del (n.7832+52_7832+58del) c.1287+52_1287+58del n.7918+52_7918+58del | gnomAD v4 |
19 | g.38502776_38502791del | CA2584900722 | RYR1 | c.7835+49_7835+64del (n.7835+49_7835+64del) c.7832+49_7832+64del (n.7832+49_7832+64del) c.1287+49_1287+64del n.7918+49_7918+64del | gnomAD v4 |
19 | g.38502779_38502791del | CA2584900724 | RYR1 | c.7835+52_7835+64del (n.7835+52_7835+64del) c.7832+52_7832+64del (n.7832+52_7832+64del) c.1287+52_1287+64del n.7918+52_7918+64del | gnomAD v4 |
19 | g.38502777_38502791del | CA2584900723 | RYR1 | c.7835+50_7835+64del (n.7835+50_7835+64del) c.7832+50_7832+64del (n.7832+50_7832+64del) c.1287+50_1287+64del n.7918+50_7918+64del | gnomAD v4 |
19 | g.38502776_38502792delinsGGGGCAGGGGCAGGGGC | CA2335054576 | RYR1 | c.7835+49_7835+65delinsGGGGCAGGGGCAGGGGC (n.7835+49_7835+65delinsGGGGCAGGGGCAGGGGC) c.7832+49_7832+65delinsGGGGCAGGGGCAGGGGC (n.7832+49_7832+65delinsGGGGCAGGGGCAGGGGC) c.1287+49_1287+65delinsGGGGCAGGGGCAGGGGC n.7918+49_7918+65delinsGGGGCAGGGGCAGGGGC | |
19 | g.38502777_38502810del | CA9415889 | RYR1 | c.7835+50_7836-70del (n.7835+50_7836-70del) c.7832+50_7833-70del (n.7832+50_7833-70del) c.1287+50_1288-70del n.7918+50_7919-70del | dbSNP ExAC |
19 | g.38502776_38502777insCA | CA2584900729 | RYR1 | c.7835+49_7835+50insCA (n.7835+49_7835+50insCA) c.7832+49_7832+50insCA (n.7832+49_7832+50insCA) c.1287+49_1287+50insCA n.7918+49_7918+50insCA | gnomAD v4 |
19 | g.38502776_38502777insCAGAGC | CA2584900728 | RYR1 | c.7835+49_7835+50insCAGAGC (n.7835+49_7835+50insCAGAGC) c.7832+49_7832+50insCAGAGC (n.7832+49_7832+50insCAGAGC) c.1287+49_1287+50insCAGAGC n.7918+49_7918+50insCAGAGC | gnomAD v4 |
19 | g.38502777G>A | CA070539 | RYR1 | c.7835+50G>A (n.7835+50G>A) c.7832+50G>A (n.7832+50G>A) c.1287+50G>A n.7918+50G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502777G>C | CA2576771121 | RYR1 | c.7835+50G>C (n.7835+50G>C) c.7832+50G>C (n.7832+50G>C) c.1287+50G>C n.7918+50G>C | |
19 | g.38502777G= | CA2335054577 | RYR1 | c.7835+50G= (n.7835+50G=) c.7832+50G= (n.7832+50G=) c.1287+50G= n.7918+50G= | |
19 | g.38502777_38502780del | CA2584900730 | RYR1 | c.7835+50_7835+53del (n.7835+50_7835+53del) c.7832+50_7832+53del (n.7832+50_7832+53del) c.1287+50_1287+53del n.7918+50_7918+53del | gnomAD v4 |
19 | g.38502780_38502784dup | CA633066260 | RYR1 | c.7835+53_7835+57dup (n.7835+53_7835+57dup) c.7832+53_7832+57dup (n.7832+53_7832+57dup) c.1287+53_1287+57dup n.7918+53_7918+57dup | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502777_38502792del | CA633066259 | RYR1 | c.7835+50_7835+65del (n.7835+50_7835+65del) c.7832+50_7832+65del (n.7832+50_7832+65del) c.1287+50_1287+65del n.7918+50_7918+65del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502777_38502816del | CA2584900727 | RYR1 | c.7835+50_7836-64del (n.7835+50_7836-64del) c.7832+50_7833-64del (n.7832+50_7833-64del) c.1287+50_1288-64del n.7918+50_7919-64del | gnomAD v4 |
19 | g.38502778G>A | CA9415893 | RYR1 | c.7835+51G>A (n.7835+51G>A) c.7832+51G>A (n.7832+51G>A) c.1287+51G>A n.7918+51G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502778G>C | CA2335054581 | RYR1 | c.7835+51G>C (n.7835+51G>C) c.7832+51G>C (n.7832+51G>C) c.1287+51G>C n.7918+51G>C | dbSNP |
19 | g.38502778G= | CA2335054578 | RYR1 | c.7835+51G= (n.7835+51G=) c.7832+51G= (n.7832+51G=) c.1287+51G= n.7918+51G= | |
19 | g.38502778G>T | CA2335054580 | RYR1 | c.7835+51G>T (n.7835+51G>T) c.7832+51G>T (n.7832+51G>T) c.1287+51G>T n.7918+51G>T | dbSNP |
19 | g.38502778_38502780del | CA2584900732 | RYR1 | c.7835+51_7835+53del (n.7835+51_7835+53del) c.7832+51_7832+53del (n.7832+51_7832+53del) c.1287+51_1287+53del n.7918+51_7918+53del | gnomAD v4 |
19 | g.38502782_38502783insAGGCAG | CA995717840 | RYR1 | c.7835+55_7835+56insAGGCAG (n.7835+55_7835+56insAGGCAG) c.7832+55_7832+56insAGGCAG (n.7832+55_7832+56insAGGCAG) c.1287+55_1287+56insAGGCAG n.7918+55_7918+56insAGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502794_38502795insAGGCAGGGGCAGGGGCAG | CA2584900731 | RYR1 | c.7835+67_7835+68insAGGCAGGGGCAGGGGCAG (n.7835+67_7835+68insAGGCAGGGGCAGGGGCAG) c.7832+67_7832+68insAGGCAGGGGCAGGGGCAG (n.7832+67_7832+68insAGGCAGGGGCAGGGGCAG) c.1287+67_1287+68insAGGCAGGGGCAGGGGCAG n.7918+67_7918+68insAGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502778_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054579 | RYR1 | c.7835+51_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+51_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+51_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+51_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+51_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+51_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | |
19 | g.38502778_38502831del | CA2584900733 | RYR1 | c.7835+51_7836-49del (n.7835+51_7836-49del) c.7832+51_7833-49del (n.7832+51_7833-49del) c.1287+51_1288-49del n.7918+51_7919-49del | gnomAD v4 |
19 | g.38502779G>A | CA633066262 | RYR1 | c.7835+52G>A (n.7835+52G>A) c.7832+52G>A (n.7832+52G>A) c.1287+52G>A n.7918+52G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502779G= | CA2335054583 | RYR1 | c.7835+52G= (n.7835+52G=) c.7832+52G= (n.7832+52G=) c.1287+52G= n.7918+52G= | |
19 | g.38502779_38502780del | CA2524977630 | RYR1 | c.7835+52_7835+53del (n.7835+52_7835+53del) c.7832+52_7832+53del (n.7832+52_7832+53del) c.1287+52_1287+53del n.7918+52_7918+53del | gnomAD v3 gnomAD v4 |
19 | g.38502779_38502781delinsGCA | CA2335054582 | RYR1 | c.7835+52_7835+54delinsGCA (n.7835+52_7835+54delinsGCA) c.7832+52_7832+54delinsGCA (n.7832+52_7832+54delinsGCA) c.1287+52_1287+54delinsGCA n.7918+52_7918+54delinsGCA | |
19 | g.38502785_38502786insGAGGAGCAGGGG | CA9415892 | RYR1 | c.7835+58_7835+59insGAGGAGCAGGGG (n.7835+58_7835+59insGAGGAGCAGGGG) c.7832+58_7832+59insGAGGAGCAGGGG (n.7832+58_7832+59insGAGGAGCAGGGG) c.1287+58_1287+59insGAGGAGCAGGGG n.7918+58_7918+59insGAGGAGCAGGGG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insGAGGAGCAGGGGCAGGGG | CA633066261 | RYR1 | c.7835+64_7835+65insGAGGAGCAGGGGCAGGGG (n.7835+64_7835+65insGAGGAGCAGGGGCAGGGG) c.7832+64_7832+65insGAGGAGCAGGGGCAGGGG (n.7832+64_7832+65insGAGGAGCAGGGGCAGGGG) c.1287+64_1287+65insGAGGAGCAGGGGCAGGGG n.7918+64_7918+65insGAGGAGCAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502795_38502796insAGCAGGGGCAGGGGCAGG | CA995717848 | RYR1 | c.7835+68_7835+69insAGCAGGGGCAGGGGCAGG (n.7835+68_7835+69insAGCAGGGGCAGGGGCAGG) c.7832+68_7832+69insAGCAGGGGCAGGGGCAGG (n.7832+68_7832+69insAGCAGGGGCAGGGGCAGG) c.1287+68_1287+69insAGCAGGGGCAGGGGCAGG n.7918+68_7918+69insAGCAGGGGCAGGGGCAGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2584900734 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502795_38502830dup | CA995717850 | RYR1 | c.7835+68_7836-50dup (n.7835+68_7836-50dup) c.7832+68_7833-50dup (n.7832+68_7833-50dup) c.1287+68_1288-50dup n.7918+68_7919-50dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502795_38502830del | CA9415891 | RYR1 | c.7835+68_7836-50del (n.7835+68_7836-50del) c.7832+68_7833-50del (n.7832+68_7833-50del) c.1287+68_1288-50del n.7918+68_7919-50del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502780_38502833del | CA2538484218 | RYR1 | c.7835+53_7836-47del (n.7835+53_7836-47del) c.7832+53_7833-47del (n.7832+53_7833-47del) c.1287+53_1288-47del n.7918+53_7919-47del | |
19 | g.38502780del | CA2584900735 | RYR1 | c.7835+53del (n.7835+53del) c.7832+53del (n.7832+53del) c.1287+53del n.7918+53del | gnomAD v4 |
19 | g.38502780C= | CA2335054584 | RYR1 | c.7835+53C= (n.7835+53C=) c.7832+53C= (n.7832+53C=) c.1287+53C= n.7918+53C= | |
19 | g.38502780C>G | CA633066265 | RYR1 | c.7835+53C>G (n.7835+53C>G) c.7832+53C>G (n.7832+53C>G) c.1287+53C>G n.7918+53C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502780C>T | CA633066264 | RYR1 | c.7835+53C>T (n.7835+53C>T) c.7832+53C>T (n.7832+53C>T) c.1287+53C>T n.7918+53C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502780_38502781del | CA633066266 | RYR1 | c.7835+53_7835+54del (n.7835+53_7835+54del) c.7832+53_7832+54del (n.7832+53_7832+54del) c.1287+53_1287+54del n.7918+53_7918+54del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502790_38502791insACAGGGGCAGGG | CA2584900736 | RYR1 | c.7835+63_7835+64insACAGGGGCAGGG (n.7835+63_7835+64insACAGGGGCAGGG) c.7832+63_7832+64insACAGGGGCAGGG (n.7832+63_7832+64insACAGGGGCAGGG) c.1287+63_1287+64insACAGGGGCAGGG n.7918+63_7918+64insACAGGGGCAGGG | gnomAD v4 |
19 | g.38502791_38502792insTAGGGGTAGGGACAGGGGCAGGGG | CA633066263 | RYR1 | c.7835+64_7835+65insTAGGGGTAGGGACAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGTAGGGACAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGTAGGGACAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGTAGGGACAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGTAGGGACAGGGGCAGGGG n.7918+64_7918+65insTAGGGGTAGGGACAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502796_38502797insACAGGGGCAGGGGCAGGG | CA2584900737 | RYR1 | c.7835+69_7835+70insACAGGGGCAGGGGCAGGG (n.7835+69_7835+70insACAGGGGCAGGGGCAGGG) c.7832+69_7832+70insACAGGGGCAGGGGCAGGG (n.7832+69_7832+70insACAGGGGCAGGGGCAGGG) c.1287+69_1287+70insACAGGGGCAGGGGCAGGG n.7918+69_7918+70insACAGGGGCAGGGGCAGGG | gnomAD v4 |
19 | g.38502780_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG | CA2335054585 | RYR1 | c.7835+53_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+53_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG) c.7832+53_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+53_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG) c.1287+53_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG n.7918+53_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGG | |
19 | g.38502781del | CA2814347084 | RYR1 | c.7835+54del (n.7835+54del) c.7832+54del (n.7832+54del) c.1287+54del n.7918+54del | |
19 | g.38502781A= | CA2335054586 | RYR1 | c.7835+54A= (n.7835+54A=) c.7832+54A= (n.7832+54A=) c.1287+54A= n.7918+54A= | |
19 | g.38502781A>C | CA2335054587 | RYR1 | c.7835+54A>C (n.7835+54A>C) c.7832+54A>C (n.7832+54A>C) c.1287+54A>C n.7918+54A>C | dbSNP gnomAD v4 |
19 | g.38502781A>G | CA657360689 | RYR1 | c.7835+54A>G (n.7835+54A>G) c.7832+54A>G (n.7832+54A>G) c.1287+54A>G n.7918+54A>G | dbSNP COSMIC |
19 | g.38502781A>T | CA2576771122 | RYR1 | c.7835+54A>T (n.7835+54A>T) c.7832+54A>T (n.7832+54A>T) c.1287+54A>T n.7918+54A>T | |
19 | g.38502781_38502782del | CA2584900739 | RYR1 | c.7835+54_7835+55del (n.7835+54_7835+55del) c.7832+54_7832+55del (n.7832+54_7832+55del) c.1287+54_1287+55del n.7918+54_7918+55del | gnomAD v4 |
19 | g.38502785_38502786insGAGGGG | CA633066267 | RYR1 | c.7835+58_7835+59insGAGGGG (n.7835+58_7835+59insGAGGGG) c.7832+58_7832+59insGAGGGG (n.7832+58_7832+59insGAGGGG) c.1287+58_1287+59insGAGGGG n.7918+58_7918+59insGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502785_38502786insTAGGGG | CA2584900740 | RYR1 | c.7835+58_7835+59insTAGGGG (n.7835+58_7835+59insTAGGGG) c.7832+58_7832+59insTAGGGG (n.7832+58_7832+59insTAGGGG) c.1287+58_1287+59insTAGGGG n.7918+58_7918+59insTAGGGG | gnomAD v4 |
19 | g.38502785_38502786insGAGGGGGAGGGG | CA995717869 | RYR1 | c.7835+58_7835+59insGAGGGGGAGGGG (n.7835+58_7835+59insGAGGGGGAGGGG) c.7832+58_7832+59insGAGGGGGAGGGG (n.7832+58_7832+59insGAGGGGGAGGGG) c.1287+58_1287+59insGAGGGGGAGGGG n.7918+58_7918+59insGAGGGGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502785_38502786insGAGGGGGAGGGGGAGGGG | CA995717888 | RYR1 | c.7835+58_7835+59insGAGGGGGAGGGGGAGGGG (n.7835+58_7835+59insGAGGGGGAGGGGGAGGGG) c.7832+58_7832+59insGAGGGGGAGGGGGAGGGG (n.7832+58_7832+59insGAGGGGGAGGGGGAGGGG) c.1287+58_1287+59insGAGGGGGAGGGGGAGGGG n.7918+58_7918+59insGAGGGGGAGGGGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insTAGGGGCAGGGG | CA995717898 | RYR1 | c.7835+64_7835+65insTAGGGGCAGGGG (n.7835+64_7835+65insTAGGGGCAGGGG) c.7832+64_7832+65insTAGGGGCAGGGG (n.7832+64_7832+65insTAGGGGCAGGGG) c.1287+64_1287+65insTAGGGGCAGGGG n.7918+64_7918+65insTAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insTAGGGGCAGGGGCAGGGG | CA995717897 | RYR1 | c.7835+70_7835+71insTAGGGGCAGGGGCAGGGG (n.7835+70_7835+71insTAGGGGCAGGGGCAGGGG) c.7832+70_7832+71insTAGGGGCAGGGGCAGGGG (n.7832+70_7832+71insTAGGGGCAGGGGCAGGGG) c.1287+70_1287+71insTAGGGGCAGGGGCAGGGG n.7918+70_7918+71insTAGGGGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2830637610 | RYR1 | c.7836-71_7836-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insTAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2584900741 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502784_38502813del | CA882054072 | RYR1 | c.7835+57_7836-67del (n.7835+57_7836-67del) c.7832+57_7833-67del (n.7832+57_7833-67del) c.1287+57_1288-67del n.7918+57_7919-67del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502781_38502815del | CA2584900738 | RYR1 | c.7835+54_7836-65del (n.7835+54_7836-65del) c.7832+54_7833-65del (n.7832+54_7833-65del) c.1287+54_1288-65del n.7918+54_7919-65del | gnomAD v4 |
19 | g.38502782G>A | CA2584900746 | RYR1 | c.7835+55G>A (n.7835+55G>A) c.7832+55G>A (n.7832+55G>A) c.1287+55G>A n.7918+55G>A | gnomAD v4 |
19 | g.38502782G= | CA2335054588 | RYR1 | c.7835+55G= (n.7835+55G=) c.7832+55G= (n.7832+55G=) c.1287+55G= n.7918+55G= | |
19 | g.38502782G>T | CA2584900745 | RYR1 | c.7835+55G>T (n.7835+55G>T) c.7832+55G>T (n.7832+55G>T) c.1287+55G>T n.7918+55G>T | gnomAD v4 |
19 | g.38502783_38502784insCAGGGCAGGGGCAGGGG | CA920105597 | RYR1 | c.7835+56_7835+57insCAGGGCAGGGGCAGGGG (n.7835+56_7835+57insCAGGGCAGGGGCAGGGG) c.7832+56_7832+57insCAGGGCAGGGGCAGGGG (n.7832+56_7832+57insCAGGGCAGGGGCAGGGG) c.1287+56_1287+57insCAGGGCAGGGGCAGGGG n.7918+56_7918+57insCAGGGCAGGGGCAGGGG | dbSNP |
19 | g.38502784_38502785dup | CA2584900749 | RYR1 | c.7835+57_7835+58dup (n.7835+57_7835+58dup) c.7832+57_7832+58dup (n.7832+57_7832+58dup) c.1287+57_1287+58dup n.7918+57_7918+58dup | gnomAD v4 |
19 | g.38502785del | CA2584900747 | RYR1 | c.7835+58del (n.7835+58del) c.7832+58del (n.7832+58del) c.1287+58del n.7918+58del | gnomAD v4 |
19 | g.38502784_38502785del | CA913015956 | RYR1 | c.7835+57_7835+58del (n.7835+57_7835+58del) c.7832+57_7832+58del (n.7832+57_7832+58del) c.1287+57_1287+58del n.7918+57_7918+58del | gnomAD v4 |
19 | g.38502783_38502785del | CA2584900743 | RYR1 | c.7835+56_7835+58del (n.7835+56_7835+58del) c.7832+56_7832+58del (n.7832+56_7832+58del) c.1287+56_1287+58del n.7918+56_7918+58del | gnomAD v4 |
19 | g.38502782_38502786del | CA2584900742 | RYR1 | c.7835+55_7835+59del (n.7835+55_7835+59del) c.7832+55_7832+59del (n.7832+55_7832+59del) c.1287+55_1287+59del n.7918+55_7918+59del | gnomAD v4 |
19 | g.38502786_38502787insCGGGGC | CA2584900750 | RYR1 | c.7835+59_7835+60insCGGGGC (n.7835+59_7835+60insCGGGGC) c.7832+59_7832+60insCGGGGC (n.7832+59_7832+60insCGGGGC) c.1287+59_1287+60insCGGGGC n.7918+59_7918+60insCGGGGC | gnomAD v4 |
19 | g.38502786_38502787insGGGGGC | CA2584900748 | RYR1 | c.7835+59_7835+60insGGGGGC (n.7835+59_7835+60insGGGGGC) c.7832+59_7832+60insGGGGGC (n.7832+59_7832+60insGGGGGC) c.1287+59_1287+60insGGGGGC n.7918+59_7918+60insGGGGGC | gnomAD v4 |
19 | g.38502783_38502791del | CA2584900744 | RYR1 | c.7835+56_7835+64del (n.7835+56_7835+64del) c.7832+56_7832+64del (n.7832+56_7832+64del) c.1287+56_1287+64del n.7918+56_7918+64del | gnomAD v4 |
19 | g.38502792_38502793insCGGGGCAGGGGC | CA2814347091 | RYR1 | c.7835+65_7835+66insCGGGGCAGGGGC (n.7835+65_7835+66insCGGGGCAGGGGC) c.7832+65_7832+66insCGGGGCAGGGGC (n.7832+65_7832+66insCGGGGCAGGGGC) c.1287+65_1287+66insCGGGGCAGGGGC n.7918+65_7918+66insCGGGGCAGGGGC | |
19 | g.38502782_38502815del | CA2541113321 | RYR1 | c.7835+55_7836-65del (n.7835+55_7836-65del) c.7832+55_7833-65del (n.7832+55_7833-65del) c.1287+55_1288-65del n.7918+55_7919-65del | gnomAD v3 gnomAD v4 |
19 | g.38502782_38502830del | CA2814347093 | RYR1 | c.7835+55_7836-50del (n.7835+55_7836-50del) c.7832+55_7833-50del (n.7832+55_7833-50del) c.1287+55_1288-50del n.7918+55_7919-50del | |
19 | g.38502782_38502783insCAGAGC | CA995717903 | RYR1 | c.7835+55_7835+56insCAGAGC (n.7835+55_7835+56insCAGAGC) c.7832+55_7832+56insCAGAGC (n.7832+55_7832+56insCAGAGC) c.1287+55_1287+56insCAGAGC n.7918+55_7918+56insCAGAGC | gnomAD v3 gnomAD v4 |
19 | g.38502783G>A | CA882054077 | RYR1 | c.7835+56G>A (n.7835+56G>A) c.7832+56G>A (n.7832+56G>A) c.1287+56G>A n.7918+56G>A | dbSNP gnomAD v4 |
19 | g.38502783G>C | CA2584900752 | RYR1 | c.7835+56G>C (n.7835+56G>C) c.7832+56G>C (n.7832+56G>C) c.1287+56G>C n.7918+56G>C | gnomAD v4 |
19 | g.38502783G= | CA2335054589 | RYR1 | c.7835+56G= (n.7835+56G=) c.7832+56G= (n.7832+56G=) c.1287+56G= n.7918+56G= | |
19 | g.38502783_38502786del | CA633066269 | RYR1 | c.7835+56_7835+59del (n.7835+56_7835+59del) c.7832+56_7832+59del (n.7832+56_7832+59del) c.1287+56_1287+59del n.7918+56_7918+59del | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502783_38502792del | CA995717911 | RYR1 | c.7835+56_7835+65del (n.7835+56_7835+65del) c.7832+56_7832+65del (n.7832+56_7832+65del) c.1287+56_1287+65del n.7918+56_7918+65del | gnomAD v3 gnomAD v4 |
19 | g.38502783_38502798del | CA633066268 | RYR1 | c.7835+56_7835+71del (n.7835+56_7835+71del) c.7832+56_7832+71del (n.7832+56_7832+71del) c.1287+56_1287+71del n.7918+56_7918+71del | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502799_38502800insTGGGCAGGGGCAGGGGCA | CA995717904 | RYR1 | c.7835+72_7835+73insTGGGCAGGGGCAGGGGCA (n.7835+72_7835+73insTGGGCAGGGGCAGGGGCA) c.7832+72_7832+73insTGGGCAGGGGCAGGGGCA (n.7832+72_7832+73insTGGGCAGGGGCAGGGGCA) c.1287+72_1287+73insTGGGCAGGGGCAGGGGCA n.7918+72_7918+73insTGGGCAGGGGCAGGGGCA | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502783_38502804del | CA2584900751 | RYR1 | c.7835+56_7836-76del (n.7835+56_7836-76del) c.7832+56_7833-76del (n.7832+56_7833-76del) c.1287+56_1288-76del n.7918+56_7919-76del | gnomAD v4 |
19 | g.38502784_38502815del | CA2584900753 | RYR1 | c.7835+57_7836-65del (n.7835+57_7836-65del) c.7832+57_7833-65del (n.7832+57_7833-65del) c.1287+57_1288-65del n.7918+57_7919-65del | gnomAD v4 |
19 | g.38502784G>A | CA308112864 | RYR1 | c.7835+57G>A (n.7835+57G>A) c.7832+57G>A (n.7832+57G>A) c.1287+57G>A n.7918+57G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502784G= | CA2335054590 | RYR1 | c.7835+57G= (n.7835+57G=) c.7832+57G= (n.7832+57G=) c.1287+57G= n.7918+57G= | |
19 | g.38502784_38502786del | CA995717921 | RYR1 | c.7835+57_7835+59del (n.7835+57_7835+59del) c.7832+57_7832+59del (n.7832+57_7832+59del) c.1287+57_1287+59del n.7918+57_7918+59del | gnomAD v3 gnomAD v4 |
19 | g.38502794_38502795insCGGCAGGGGCAG | CA2335054592 | RYR1 | c.7835+67_7835+68insCGGCAGGGGCAG (n.7835+67_7835+68insCGGCAGGGGCAG) c.7832+67_7832+68insCGGCAGGGGCAG (n.7832+67_7832+68insCGGCAGGGGCAG) c.1287+67_1287+68insCGGCAGGGGCAG n.7918+67_7918+68insCGGCAGGGGCAG | dbSNP gnomAD v4 |
19 | g.38502806_38502807insAGGCAGGGGCAGGGGCAGGGGCAG | CA995717918 | RYR1 | c.7836-74_7836-73insAGGCAGGGGCAGGGGCAGGGGCAG (n.7836-74_7836-73insAGGCAGGGGCAGGGGCAGGGGCAG) c.7833-74_7833-73insAGGCAGGGGCAGGGGCAGGGGCAG (n.7833-74_7833-73insAGGCAGGGGCAGGGGCAGGGGCAG) c.1288-74_1288-73insAGGCAGGGGCAGGGGCAGGGGCAG n.7919-74_7919-73insAGGCAGGGGCAGGGGCAGGGGCAG | gnomAD v3 gnomAD v4 |
19 | g.38502784_38502814delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054591 | RYR1 | c.7835+57_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+57_7836-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+57_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+57_7833-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+57_1288-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+57_7919-66delinsGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA | |
19 | g.38502785G>A | CA2335054597 | RYR1 | c.7835+58G>A (n.7835+58G>A) c.7832+58G>A (n.7832+58G>A) c.1287+58G>A n.7918+58G>A | dbSNP gnomAD v4 |
19 | g.38502785G= | CA2335054596 | RYR1 | c.7835+58G= (n.7835+58G=) c.7832+58G= (n.7832+58G=) c.1287+58G= n.7918+58G= | |
19 | g.38502785G>T | CA995717925 | RYR1 | c.7835+58G>T (n.7835+58G>T) c.7832+58G>T (n.7832+58G>T) c.1287+58G>T n.7918+58G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502785_38502786del | CA2584900754 | RYR1 | c.7835+58_7835+59del (n.7835+58_7835+59del) c.7832+58_7832+59del (n.7832+58_7832+59del) c.1287+58_1287+59del n.7918+58_7918+59del | gnomAD v4 |
19 | g.38502785_38502787delinsGCA | CA2335054595 | RYR1 | c.7835+58_7835+60delinsGCA (n.7835+58_7835+60delinsGCA) c.7832+58_7832+60delinsGCA (n.7832+58_7832+60delinsGCA) c.1287+58_1287+60delinsGCA n.7918+58_7918+60delinsGCA | |
19 | g.38502789_38502790insAGCAGG | CA2335054593 | RYR1 | c.7835+62_7835+63insAGCAGG (n.7835+62_7835+63insAGCAGG) c.7832+62_7832+63insAGCAGG (n.7832+62_7832+63insAGCAGG) c.1287+62_1287+63insAGCAGG n.7918+62_7918+63insAGCAGG | dbSNP gnomAD v4 |
19 | g.38502791_38502792insGAGGAGCAGGGG | CA2335054594 | RYR1 | c.7835+64_7835+65insGAGGAGCAGGGG (n.7835+64_7835+65insGAGGAGCAGGGG) c.7832+64_7832+65insGAGGAGCAGGGG (n.7832+64_7832+65insGAGGAGCAGGGG) c.1287+64_1287+65insGAGGAGCAGGGG n.7918+64_7918+65insGAGGAGCAGGGG | dbSNP gnomAD v4 |
19 | g.38502795_38502796insAGCAGGGGCAGG | CA633066270 | RYR1 | c.7835+68_7835+69insAGCAGGGGCAGG (n.7835+68_7835+69insAGCAGGGGCAGG) c.7832+68_7832+69insAGCAGGGGCAGG (n.7832+68_7832+69insAGCAGGGGCAGG) c.1287+68_1287+69insAGCAGGGGCAGG n.7918+68_7918+69insAGCAGGGGCAGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insGAGGAGCAGGGGCAGGGG | CA2584900755 | RYR1 | c.7835+70_7835+71insGAGGAGCAGGGGCAGGGG (n.7835+70_7835+71insGAGGAGCAGGGGCAGGGG) c.7832+70_7832+71insGAGGAGCAGGGGCAGGGG (n.7832+70_7832+71insGAGGAGCAGGGGCAGGGG) c.1287+70_1287+71insGAGGAGCAGGGGCAGGGG n.7918+70_7918+71insGAGGAGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502801_38502830del | CA507353992 | RYR1 | c.7835+74_7836-50del (n.7835+74_7836-50del) c.7832+74_7833-50del (n.7832+74_7833-50del) c.1287+74_1288-50del n.7918+74_7919-50del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502786C= | CA2335054598 | RYR1 | c.7835+59C= (n.7835+59C=) c.7832+59C= (n.7832+59C=) c.1287+59C= n.7918+59C= | |
19 | g.38502786C>G | CA633066272 | RYR1 | c.7835+59C>G (n.7835+59C>G) c.7832+59C>G (n.7832+59C>G) c.1287+59C>G n.7918+59C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502786C>T | CA882054083 | RYR1 | c.7835+59C>T (n.7835+59C>T) c.7832+59C>T (n.7832+59C>T) c.1287+59C>T n.7918+59C>T | dbSNP gnomAD v4 |
19 | g.38502786_38502787del | CA633066271 | RYR1 | c.7835+59_7835+60del (n.7835+59_7835+60del) c.7832+59_7832+60del (n.7832+59_7832+60del) c.1287+59_1287+60del n.7918+59_7918+60del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502790_38502791insACAGGG | CA2584900757 | RYR1 | c.7835+63_7835+64insACAGGG (n.7835+63_7835+64insACAGGG) c.7832+63_7832+64insACAGGG (n.7832+63_7832+64insACAGGG) c.1287+63_1287+64insACAGGG n.7918+63_7918+64insACAGGG | gnomAD v4 |
19 | g.38502796_38502797insACAGGGGCAGGG | CA2584900756 | RYR1 | c.7835+69_7835+70insACAGGGGCAGGG (n.7835+69_7835+70insACAGGGGCAGGG) c.7832+69_7832+70insACAGGGGCAGGG (n.7832+69_7832+70insACAGGGGCAGGG) c.1287+69_1287+70insACAGGGGCAGGG n.7918+69_7918+70insACAGGGGCAGGG | gnomAD v4 |
19 | g.38502802_38502803insACAGGGGCAGGGGCAGGG | CA2814347112 | RYR1 | c.7835+75_7836-77insACAGGGGCAGGGGCAGGG (n.7835+75_7836-77insACAGGGGCAGGGGCAGGG) c.7832+75_7833-77insACAGGGGCAGGGGCAGGG (n.7832+75_7833-77insACAGGGGCAGGGGCAGGG) c.1287+75_1288-77insACAGGGGCAGGGGCAGGG n.7918+75_7919-77insACAGGGGCAGGGGCAGGG | |
19 | g.38502786_38502810delinsCAGGGGCAGGGGCAGGGGCAGGGGG | CA2335054599 | RYR1 | c.7835+59_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG (n.7835+59_7836-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG) c.7832+59_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG (n.7832+59_7833-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG) c.1287+59_1288-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG n.7918+59_7919-70delinsCAGGGGCAGGGGCAGGGGCAGGGGG | |
19 | g.38502786_38502787insCGGGGCAGGGGG | CA2584900764 | RYR1 | c.7835+59_7835+60insCGGGGCAGGGGG (n.7835+59_7835+60insCGGGGCAGGGGG) c.7832+59_7832+60insCGGGGCAGGGGG (n.7832+59_7832+60insCGGGGCAGGGGG) c.1287+59_1287+60insCGGGGCAGGGGG n.7918+59_7918+60insCGGGGCAGGGGG | gnomAD v4 |
19 | g.38502787A= | CA2335054600 | RYR1 | c.7835+60A= (n.7835+60A=) c.7832+60A= (n.7832+60A=) c.1287+60A= n.7918+60A= | |
19 | g.38502787A>C | CA995717940 | RYR1 | c.7835+60A>C (n.7835+60A>C) c.7832+60A>C (n.7832+60A>C) c.1287+60A>C n.7918+60A>C | gnomAD v3 gnomAD v4 |
19 | g.38502787A>G | CA657360690 | RYR1 | c.7835+60A>G (n.7835+60A>G) c.7832+60A>G (n.7832+60A>G) c.1287+60A>G n.7918+60A>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502787A>T | CA2335054601 | RYR1 | c.7835+60A>T (n.7835+60A>T) c.7832+60A>T (n.7832+60A>T) c.1287+60A>T n.7918+60A>T | dbSNP gnomAD v4 |
19 | g.38502787_38502791del | CA995717942 | RYR1 | c.7835+60_7835+64del (n.7835+60_7835+64del) c.7832+60_7832+64del (n.7832+60_7832+64del) c.1287+60_1287+64del n.7918+60_7918+64del | gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insGAGGGG | CA633066275 | RYR1 | c.7835+64_7835+65insGAGGGG (n.7835+64_7835+65insGAGGGG) c.7832+64_7832+65insGAGGGG (n.7832+64_7832+65insGAGGGG) c.1287+64_1287+65insGAGGGG n.7918+64_7918+65insGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insTAGGGG | CA882054093 | RYR1 | c.7835+64_7835+65insTAGGGG (n.7835+64_7835+65insTAGGGG) c.7832+64_7832+65insTAGGGG (n.7832+64_7832+65insTAGGGG) c.1287+64_1287+65insTAGGGG n.7918+64_7918+65insTAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insGAGGGGAGGGG | CA2584900760 | RYR1 | c.7835+64_7835+65insGAGGGGAGGGG (n.7835+64_7835+65insGAGGGGAGGGG) c.7832+64_7832+65insGAGGGGAGGGG (n.7832+64_7832+65insGAGGGGAGGGG) c.1287+64_1287+65insGAGGGGAGGGG n.7918+64_7918+65insGAGGGGAGGGG | gnomAD v4 |
19 | g.38502791_38502792insGAGGGGGAGGGG | CA920105599 | RYR1 | c.7835+64_7835+65insGAGGGGGAGGGG (n.7835+64_7835+65insGAGGGGGAGGGG) c.7832+64_7832+65insGAGGGGGAGGGG (n.7832+64_7832+65insGAGGGGGAGGGG) c.1287+64_1287+65insGAGGGGGAGGGG n.7918+64_7918+65insGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insTAGGGGTAGGGG | CA995717945 | RYR1 | c.7835+64_7835+65insTAGGGGTAGGGG (n.7835+64_7835+65insTAGGGGTAGGGG) c.7832+64_7832+65insTAGGGGTAGGGG (n.7832+64_7832+65insTAGGGGTAGGGG) c.1287+64_1287+65insTAGGGGTAGGGG n.7918+64_7918+65insTAGGGGTAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insGAGGGGGAGGGGGAGGGG | CA995717964 | RYR1 | c.7835+64_7835+65insGAGGGGGAGGGGGAGGGG (n.7835+64_7835+65insGAGGGGGAGGGGGAGGGG) c.7832+64_7832+65insGAGGGGGAGGGGGAGGGG (n.7832+64_7832+65insGAGGGGGAGGGGGAGGGG) c.1287+64_1287+65insGAGGGGGAGGGGGAGGGG n.7918+64_7918+65insGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502791_38502792insGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900762 | RYR1 | c.7835+64_7835+65insGAGGGGGAGGGGGAGGGGGAGGGG (n.7835+64_7835+65insGAGGGGGAGGGGGAGGGGGAGGGG) c.7832+64_7832+65insGAGGGGGAGGGGGAGGGGGAGGGG (n.7832+64_7832+65insGAGGGGGAGGGGGAGGGGGAGGGG) c.1287+64_1287+65insGAGGGGGAGGGGGAGGGGGAGGGG n.7918+64_7918+65insGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502791_38502792insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900763 | RYR1 | c.7835+64_7835+65insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7835+64_7835+65insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7832+64_7832+65insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7832+64_7832+65insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1287+64_1287+65insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7918+64_7918+65insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502791_38502792insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG | CA2584900761 | RYR1 | c.7835+64_7835+65insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7835+64_7835+65insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG) c.7832+64_7832+65insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7832+64_7832+65insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG) c.1287+64_1287+65insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG n.7918+64_7918+65insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502797_38502798insGAGGGGCAGGGG | CA995717966 | RYR1 | c.7835+70_7835+71insGAGGGGCAGGGG (n.7835+70_7835+71insGAGGGGCAGGGG) c.7832+70_7832+71insGAGGGGCAGGGG (n.7832+70_7832+71insGAGGGGCAGGGG) c.1287+70_1287+71insGAGGGGCAGGGG n.7918+70_7918+71insGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insGAGGGGGAGGGGCAGGGG | CA2584900758 | RYR1 | c.7835+70_7835+71insGAGGGGGAGGGGCAGGGG (n.7835+70_7835+71insGAGGGGGAGGGGCAGGGG) c.7832+70_7832+71insGAGGGGGAGGGGCAGGGG (n.7832+70_7832+71insGAGGGGGAGGGGCAGGGG) c.1287+70_1287+71insGAGGGGGAGGGGCAGGGG n.7918+70_7918+71insGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502797_38502798insGAGGGGGAGGGGGAGGGGCAGGGG | CA2584900759 | RYR1 | c.7835+70_7835+71insGAGGGGGAGGGGGAGGGGCAGGGG (n.7835+70_7835+71insGAGGGGGAGGGGGAGGGGCAGGGG) c.7832+70_7832+71insGAGGGGGAGGGGGAGGGGCAGGGG (n.7832+70_7832+71insGAGGGGGAGGGGGAGGGGCAGGGG) c.1287+70_1287+71insGAGGGGGAGGGGGAGGGGCAGGGG n.7918+70_7918+71insGAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGGCAGGGG | CA2584900778 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGCAGGGG n.7919-77_7919-76insGAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502803_38502804insTAGGGGCAGGGGCAGGGG | CA2814347131 | RYR1 | c.7836-77_7836-76insTAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGCAGGGGCAGGGG) c.7833-77_7833-76insTAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGCAGGGGCAGGGG) c.1288-77_1288-76insTAGGGGCAGGGGCAGGGG n.7919-77_7919-76insTAGGGGCAGGGGCAGGGG | |
19 | g.38502803_38502804insTAGGGGTAGGGGCAGGGGCAGGGG | CA2814347130 | RYR1 | c.7836-77_7836-76insTAGGGGTAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGTAGGGGCAGGGGCAGGGG) c.7833-77_7833-76insTAGGGGTAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGTAGGGGCAGGGGCAGGGG) c.1288-77_1288-76insTAGGGGTAGGGGCAGGGGCAGGGG n.7919-77_7919-76insTAGGGGTAGGGGCAGGGGCAGGGG | |
19 | g.38502803_38502804insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG | CA2584900779 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG | CA633066274 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | CA2584900766 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | CA2584900770 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | CA2584900768 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG | CA2584900765 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGAAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | CA2584900767 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | CA2582145376 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | CA2584900771 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | CA2584900774 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | CA2584900772 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | CA2584900769 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | CA2584900775 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | CA2584900773 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502813_38502814insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG | CA633066273 | RYR1 | c.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG) c.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG) c.1288-67_1288-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG n.7919-67_7919-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502813_38502814insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG | CA2584900776 | RYR1 | c.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG) c.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG) c.1288-67_1288-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG n.7919-67_7919-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG | gnomAD v4 |
19 | g.38502813_38502814insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG | CA2584900777 | RYR1 | c.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG) c.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG) c.1288-67_1288-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG n.7919-67_7919-66insGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGG | gnomAD v4 |
19 | g.38502790_38502813dup | CA995717969 | RYR1 | c.7835+63_7836-67dup (n.7835+63_7836-67dup) c.7832+63_7833-67dup (n.7832+63_7833-67dup) c.1287+63_1288-67dup n.7918+63_7919-67dup | gnomAD v3 gnomAD v4 |
19 | g.38502790_38502813del | CA995717941 | RYR1 | c.7835+63_7836-67del (n.7835+63_7836-67del) c.7832+63_7833-67del (n.7832+63_7833-67del) c.1287+63_1288-67del n.7918+63_7919-67del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502787_38502817del | CA2814347126 | RYR1 | c.7835+60_7836-63del (n.7835+60_7836-63del) c.7832+60_7833-63del (n.7832+60_7833-63del) c.1287+60_1288-63del n.7918+60_7919-63del | |
19 | g.38502787_38502820del | CA2814347125 | RYR1 | c.7835+60_7836-60del (n.7835+60_7836-60del) c.7832+60_7833-60del (n.7832+60_7833-60del) c.1287+60_1288-60del n.7918+60_7919-60del | |
19 | g.38502788G>A | CA2584900781 | RYR1 | c.7835+61G>A (n.7835+61G>A) c.7832+61G>A (n.7832+61G>A) c.1287+61G>A n.7918+61G>A | gnomAD v4 |
19 | g.38502789_38502790insCTTCAGGGTGG | CA2335054607 | RYR1 | c.7835+62_7835+63insCTTCAGGGTGG (n.7835+62_7835+63insCTTCAGGGTGG) c.7832+62_7832+63insCTTCAGGGTGG (n.7832+62_7832+63insCTTCAGGGTGG) c.1287+62_1287+63insCTTCAGGGTGG n.7918+62_7918+63insCTTCAGGGTGG | dbSNP |
19 | g.38502790_38502791del | CA995717977 | RYR1 | c.7835+63_7835+64del (n.7835+63_7835+64del) c.7832+63_7832+64del (n.7832+63_7832+64del) c.1287+63_1287+64del n.7918+63_7918+64del | gnomAD v3 gnomAD v4 |
19 | g.38502789_38502791del | CA995717979 | RYR1 | c.7835+62_7835+64del (n.7835+62_7835+64del) c.7832+62_7832+64del (n.7832+62_7832+64del) c.1287+62_1287+64del n.7918+62_7918+64del | gnomAD v3 gnomAD v4 |
19 | g.38502788_38502792del | CA2814347141 | RYR1 | c.7835+61_7835+65del (n.7835+61_7835+65del) c.7832+61_7832+65del (n.7832+61_7832+65del) c.1287+61_1287+65del n.7918+61_7918+65del | |
19 | g.38502788_38502792delinsGGGGC | CA2335054606 | RYR1 | c.7835+61_7835+65delinsGGGGC (n.7835+61_7835+65delinsGGGGC) c.7832+61_7832+65delinsGGGGC (n.7832+61_7832+65delinsGGGGC) c.1287+61_1287+65delinsGGGGC n.7918+61_7918+65delinsGGGGC | |
19 | g.38502792_38502793insCGGGGC | CA2584900783 | RYR1 | c.7835+65_7835+66insCGGGGC (n.7835+65_7835+66insCGGGGC) c.7832+65_7832+66insCGGGGC (n.7832+65_7832+66insCGGGGC) c.1287+65_1287+66insCGGGGC n.7918+65_7918+66insCGGGGC | gnomAD v4 |
19 | g.38502791_38502797del | CA2584900784 | RYR1 | c.7835+64_7835+70del (n.7835+64_7835+70del) c.7832+64_7832+70del (n.7832+64_7832+70del) c.1287+64_1287+70del n.7918+64_7918+70del | gnomAD v4 |
19 | g.38502788_38502798delinsGGGGCAGGGGC | CA2335054605 | RYR1 | c.7835+61_7835+71delinsGGGGCAGGGGC (n.7835+61_7835+71delinsGGGGCAGGGGC) c.7832+61_7832+71delinsGGGGCAGGGGC (n.7832+61_7832+71delinsGGGGCAGGGGC) c.1287+61_1287+71delinsGGGGCAGGGGC n.7918+61_7918+71delinsGGGGCAGGGGC | |
19 | g.38502788_38502803del | CA2584900780 | RYR1 | c.7835+61_7836-77del (n.7835+61_7836-77del) c.7832+61_7833-77del (n.7832+61_7833-77del) c.1287+61_1288-77del n.7918+61_7919-77del | gnomAD v4 |
19 | g.38502788_38502804delinsGGGGCAGGGGCAGGGGC | CA2335054602 | RYR1 | c.7835+61_7836-76delinsGGGGCAGGGGCAGGGGC (n.7835+61_7836-76delinsGGGGCAGGGGCAGGGGC) c.7832+61_7833-76delinsGGGGCAGGGGCAGGGGC (n.7832+61_7833-76delinsGGGGCAGGGGCAGGGGC) c.1287+61_1288-76delinsGGGGCAGGGGCAGGGGC n.7918+61_7919-76delinsGGGGCAGGGGCAGGGGC | |
19 | g.38502788_38502814delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054604 | RYR1 | c.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+61_7836-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+61_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+61_7833-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+61_1288-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+61_7919-66delinsGGGGCAGGGGCAGGGGCAGGGGGAGGA | |
19 | g.38502790_38502821del | CA2584900782 | RYR1 | c.7835+63_7836-59del (n.7835+63_7836-59del) c.7832+63_7833-59del (n.7832+63_7833-59del) c.1287+63_1288-59del n.7918+63_7919-59del | gnomAD v4 |
19 | g.38502788_38502822delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC | CA2335054603 | RYR1 | c.7835+61_7836-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC (n.7835+61_7836-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC) c.7832+61_7833-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC (n.7832+61_7833-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC) c.1287+61_1288-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC n.7918+61_7919-58delinsGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGC | |
19 | g.38502788_38502789insCA | CA2584900789 | RYR1 | c.7835+61_7835+62insCA (n.7835+61_7835+62insCA) c.7832+61_7832+62insCA (n.7832+61_7832+62insCA) c.1287+61_1287+62insCA n.7918+61_7918+62insCA | gnomAD v4 |
19 | g.38502788_38502789insCAGAGC | CA995718014 | RYR1 | c.7835+61_7835+62insCAGAGC (n.7835+61_7835+62insCAGAGC) c.7832+61_7832+62insCAGAGC (n.7832+61_7832+62insCAGAGC) c.1287+61_1287+62insCAGAGC n.7918+61_7918+62insCAGAGC | gnomAD v3 gnomAD v4 |
19 | g.38502789G>A | CA633066276 | RYR1 | c.7835+62G>A (n.7835+62G>A) c.7832+62G>A (n.7832+62G>A) c.1287+62G>A n.7918+62G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502789G= | CA2335054608 | RYR1 | c.7835+62G= (n.7835+62G=) c.7832+62G= (n.7832+62G=) c.1287+62G= n.7918+62G= | |
19 | g.38502789G>T | CA2576771123 | RYR1 | c.7835+62G>T (n.7835+62G>T) c.7832+62G>T (n.7832+62G>T) c.1287+62G>T n.7918+62G>T | |
19 | g.38502789_38502792del | CA633066278 | RYR1 | c.7835+62_7835+65del (n.7835+62_7835+65del) c.7832+62_7832+65del (n.7832+62_7832+65del) c.1287+62_1287+65del n.7918+62_7918+65del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502793_38502794insCGGGCA | CA2584900788 | RYR1 | c.7835+66_7835+67insCGGGCA (n.7835+66_7835+67insCGGGCA) c.7832+66_7832+67insCGGGCA (n.7832+66_7832+67insCGGGCA) c.1287+66_1287+67insCGGGCA n.7918+66_7918+67insCGGGCA | gnomAD v4 |
19 | g.38502793_38502794insTGGGCA | CA2584900787 | RYR1 | c.7835+66_7835+67insTGGGCA (n.7835+66_7835+67insTGGGCA) c.7832+66_7832+67insTGGGCA (n.7832+66_7832+67insTGGGCA) c.1287+66_1287+67insTGGGCA n.7918+66_7918+67insTGGGCA | gnomAD v4 |
19 | g.38502789_38502798del | CA633066277 | RYR1 | c.7835+62_7835+71del (n.7835+62_7835+71del) c.7832+62_7832+71del (n.7832+62_7832+71del) c.1287+62_1287+71del n.7918+62_7918+71del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502789_38502804del | CA995718013 | RYR1 | c.7835+62_7836-76del (n.7835+62_7836-76del) c.7832+62_7833-76del (n.7832+62_7833-76del) c.1287+62_1288-76del n.7918+62_7919-76del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502790_38502815del | CA995718011 | RYR1 | c.7835+63_7836-65del (n.7835+63_7836-65del) c.7832+63_7833-65del (n.7832+63_7833-65del) c.1287+63_1288-65del n.7918+63_7919-65del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502789_38502816del | CA2584900786 | RYR1 | c.7835+62_7836-64del (n.7835+62_7836-64del) c.7832+62_7833-64del (n.7832+62_7833-64del) c.1287+62_1288-64del n.7918+62_7919-64del | gnomAD v4 |
19 | g.38502789_38502822del | CA995717994 | RYR1 | c.7835+62_7836-58del (n.7835+62_7836-58del) c.7832+62_7833-58del (n.7832+62_7833-58del) c.1287+62_1288-58del n.7918+62_7919-58del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502793_38502840del | CA2584900785 | RYR1 | c.7835+66_7836-40del (n.7835+66_7836-40del) c.7832+66_7833-40del (n.7832+66_7833-40del) c.1287+66_1288-40del n.7918+66_7919-40del | gnomAD v4 |
19 | g.38502790G>A | CA882054099 | RYR1 | c.7835+63G>A (n.7835+63G>A) c.7832+63G>A (n.7832+63G>A) c.1287+63G>A n.7918+63G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502790G>C | CA882054100 | RYR1 | c.7835+63G>C (n.7835+63G>C) c.7832+63G>C (n.7832+63G>C) c.1287+63G>C n.7918+63G>C | dbSNP |
19 | g.38502790G= | CA2335054609 | RYR1 | c.7835+63G= (n.7835+63G=) c.7832+63G= (n.7832+63G=) c.1287+63G= n.7918+63G= | |
19 | g.38502790_38502792del | CA995718019 | RYR1 | c.7835+63_7835+65del (n.7835+63_7835+65del) c.7832+63_7832+65del (n.7832+63_7832+65del) c.1287+63_1287+65del n.7918+63_7918+65del | gnomAD v3 gnomAD v4 |
19 | g.38502794_38502795insAGGCAG | CA995718018 | RYR1 | c.7835+67_7835+68insAGGCAG (n.7835+67_7835+68insAGGCAG) c.7832+67_7832+68insAGGCAG (n.7832+67_7832+68insAGGCAG) c.1287+67_1287+68insAGGCAG n.7918+67_7918+68insAGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502800_38502801insAGGCAGGGGCAG | CA2584900790 | RYR1 | c.7835+73_7835+74insAGGCAGGGGCAG (n.7835+73_7835+74insAGGCAGGGGCAG) c.7832+73_7832+74insAGGCAGGGGCAG (n.7832+73_7832+74insAGGCAGGGGCAG) c.1287+73_1287+74insAGGCAGGGGCAG n.7918+73_7918+74insAGGCAGGGGCAG | gnomAD v4 |
19 | g.38502790_38502814delinsGGCAGGGGCAGGGGCAGGGGGAGGA | CA2335054610 | RYR1 | c.7835+63_7836-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA (n.7835+63_7836-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA) c.7832+63_7833-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA (n.7832+63_7833-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA) c.1287+63_1288-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA n.7918+63_7919-66delinsGGCAGGGGCAGGGGCAGGGGGAGGA | |
19 | g.38502791G>A | CA882054102 | RYR1 | c.7835+64G>A (n.7835+64G>A) c.7832+64G>A (n.7832+64G>A) c.1287+64G>A n.7918+64G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502791G>C | CA882054108 | RYR1 | c.7835+64G>C (n.7835+64G>C) c.7832+64G>C (n.7832+64G>C) c.1287+64G>C n.7918+64G>C | dbSNP |
19 | g.38502791G= | CA2335054611 | RYR1 | c.7835+64G= (n.7835+64G=) c.7832+64G= (n.7832+64G=) c.1287+64G= n.7918+64G= | |
19 | g.38502791G>T | CA2584900791 | RYR1 | c.7835+64G>T (n.7835+64G>T) c.7832+64G>T (n.7832+64G>T) c.1287+64G>T n.7918+64G>T | gnomAD v4 |
19 | g.38502791_38502792insGAGGAG | CA2554350049 | RYR1 | c.7835+64_7835+65insGAGGAG (n.7835+64_7835+65insGAGGAG) c.7832+64_7832+65insGAGGAG (n.7832+64_7832+65insGAGGAG) c.1287+64_1287+65insGAGGAG n.7918+64_7918+65insGAGGAG | gnomAD v4 |
19 | g.38502791_38502792del | CA2584900793 | RYR1 | c.7835+64_7835+65del (n.7835+64_7835+65del) c.7832+64_7832+65del (n.7832+64_7832+65del) c.1287+64_1287+65del n.7918+64_7918+65del | gnomAD v4 |
19 | g.38502791_38502793delinsGCA | CA2335054612 | RYR1 | c.7835+64_7835+66delinsGCA (n.7835+64_7835+66delinsGCA) c.7832+64_7832+66delinsGCA (n.7832+64_7832+66delinsGCA) c.1287+64_1287+66delinsGCA n.7918+64_7918+66delinsGCA | |
19 | g.38502795_38502796insCGCAGG | CA995718020 | RYR1 | c.7835+68_7835+69insCGCAGG (n.7835+68_7835+69insCGCAGG) c.7832+68_7832+69insCGCAGG (n.7832+68_7832+69insCGCAGG) c.1287+68_1287+69insCGCAGG n.7918+68_7918+69insCGCAGG | gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insGAGGAGCAGGGG | CA995718021 | RYR1 | c.7835+70_7835+71insGAGGAGCAGGGG (n.7835+70_7835+71insGAGGAGCAGGGG) c.7832+70_7832+71insGAGGAGCAGGGG (n.7832+70_7832+71insGAGGAGCAGGGG) c.1287+70_1287+71insGAGGAGCAGGGG n.7918+70_7918+71insGAGGAGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGAGCAGGGGCAGGGG | CA2582145377 | RYR1 | c.7836-77_7836-76insGAGGAGCAGGGGCAGGGG (n.7836-77_7836-76insGAGGAGCAGGGGCAGGGG) c.7833-77_7833-76insGAGGAGCAGGGGCAGGGG (n.7833-77_7833-76insGAGGAGCAGGGGCAGGGG) c.1288-77_1288-76insGAGGAGCAGGGGCAGGGG n.7919-77_7919-76insGAGGAGCAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG | CA2582145378 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG | CA2584900794 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG | CA2584900795 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502807_38502830dup | CA633066279 | RYR1 | c.7836-73_7836-50dup (n.7836-73_7836-50dup) c.7833-73_7833-50dup (n.7833-73_7833-50dup) c.1288-73_1288-50dup n.7919-73_7919-50dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502807_38502830del | CA507353993 | RYR1 | c.7836-73_7836-50del (n.7836-73_7836-50del) c.7833-73_7833-50del (n.7833-73_7833-50del) c.1288-73_1288-50del n.7919-73_7919-50del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502792_38502833del | CA2584900792 | RYR1 | c.7835+65_7836-47del (n.7835+65_7836-47del) c.7832+65_7833-47del (n.7832+65_7833-47del) c.1287+65_1288-47del n.7918+65_7919-47del | gnomAD v4 |
19 | g.38502792C>A | CA2335054616 | RYR1 | c.7835+65C>A (n.7835+65C>A) c.7832+65C>A (n.7832+65C>A) c.1287+65C>A n.7918+65C>A | dbSNP |
19 | g.38502792C= | CA2335054614 | RYR1 | c.7835+65C= (n.7835+65C=) c.7832+65C= (n.7832+65C=) c.1287+65C= n.7918+65C= | |
19 | g.38502792C>G | CA308112866 | RYR1 | c.7835+65C>G (n.7835+65C>G) c.7832+65C>G (n.7832+65C>G) c.1287+65C>G n.7918+65C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502792C>T | CA882054115 | RYR1 | c.7835+65C>T (n.7835+65C>T) c.7832+65C>T (n.7832+65C>T) c.1287+65C>T n.7918+65C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502792_38502793del | CA633066280 | RYR1 | c.7835+65_7835+66del (n.7835+65_7835+66del) c.7832+65_7832+66del (n.7832+65_7832+66del) c.1287+65_1287+66del n.7918+65_7918+66del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502792_38502798del | CA2576771124 | RYR1 | c.7835+65_7835+71del (n.7835+65_7835+71del) c.7832+65_7832+71del (n.7832+65_7832+71del) c.1287+65_1287+71del n.7918+65_7918+71del | |
19 | g.38502792_38502808delinsCAGGGGCAGGGGCAGGG | CA2335054613 | RYR1 | c.7835+65_7836-72delinsCAGGGGCAGGGGCAGGG (n.7835+65_7836-72delinsCAGGGGCAGGGGCAGGG) c.7832+65_7833-72delinsCAGGGGCAGGGGCAGGG (n.7832+65_7833-72delinsCAGGGGCAGGGGCAGGG) c.1287+65_1288-72delinsCAGGGGCAGGGGCAGGG n.7918+65_7919-72delinsCAGGGGCAGGGGCAGGG | |
19 | g.38502792_38502810delinsCAGGGGCAGGGGCAGGGGG | CA2335054615 | RYR1 | c.7835+65_7836-70delinsCAGGGGCAGGGGCAGGGGG (n.7835+65_7836-70delinsCAGGGGCAGGGGCAGGGGG) c.7832+65_7833-70delinsCAGGGGCAGGGGCAGGGGG (n.7832+65_7833-70delinsCAGGGGCAGGGGCAGGGGG) c.1287+65_1288-70delinsCAGGGGCAGGGGCAGGGGG n.7918+65_7919-70delinsCAGGGGCAGGGGCAGGGGG | |
19 | g.38502793del | CA2814347171 | RYR1 | c.7835+66del (n.7835+66del) c.7832+66del (n.7832+66del) c.1287+66del n.7918+66del | |
19 | g.38502793A= | CA2335054619 | RYR1 | c.7835+66A= (n.7835+66A=) c.7832+66A= (n.7832+66A=) c.1287+66A= n.7918+66A= | |
19 | g.38502793A>C | CA2584900802 | RYR1 | c.7835+66A>C (n.7835+66A>C) c.7832+66A>C (n.7832+66A>C) c.1287+66A>C n.7918+66A>C | gnomAD v4 |
19 | g.38502793A>G | CA882054123 | RYR1 | c.7835+66A>G (n.7835+66A>G) c.7832+66A>G (n.7832+66A>G) c.1287+66A>G n.7918+66A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502793A>T | CA995718053 | RYR1 | c.7835+66A>T (n.7835+66A>T) c.7832+66A>T (n.7832+66A>T) c.1287+66A>T n.7918+66A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502793_38502796delinsAGGG | CA2335054618 | RYR1 | c.7835+66_7835+69delinsAGGG (n.7835+66_7835+69delinsAGGG) c.7832+66_7832+69delinsAGGG (n.7832+66_7832+69delinsAGGG) c.1287+66_1287+69delinsAGGG n.7918+66_7918+69delinsAGGG | |
19 | g.38502796_38502797insACAGGGGGAGGGGGAGGG | CA995718073 | RYR1 | c.7835+69_7835+70insACAGGGGGAGGGGGAGGG (n.7835+69_7835+70insACAGGGGGAGGGGGAGGG) c.7832+69_7832+70insACAGGGGGAGGGGGAGGG (n.7832+69_7832+70insACAGGGGGAGGGGGAGGG) c.1287+69_1287+70insACAGGGGGAGGGGGAGGG n.7918+69_7918+70insACAGGGGGAGGGGGAGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502796_38502797insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG | CA2584900804 | RYR1 | c.7835+69_7835+70insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG (n.7835+69_7835+70insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG) c.7832+69_7832+70insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG (n.7832+69_7832+70insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG) c.1287+69_1287+70insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG n.7918+69_7918+70insACAGGGGGAGGGGGAGGGGGAGGGGGAGGG | gnomAD v4 |
19 | g.38502793_38502797del | CA2584900800 | RYR1 | c.7835+66_7835+70del (n.7835+66_7835+70del) c.7832+66_7832+70del (n.7832+66_7832+70del) c.1287+66_1287+70del n.7918+66_7918+70del | gnomAD v4 |
19 | g.38502797_38502798insGAGGGG | CA633066282 | RYR1 | c.7835+70_7835+71insGAGGGG (n.7835+70_7835+71insGAGGGG) c.7832+70_7832+71insGAGGGG (n.7832+70_7832+71insGAGGGG) c.1287+70_1287+71insGAGGGG n.7918+70_7918+71insGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insTAGGGG | CA2582145379 | RYR1 | c.7835+70_7835+71insTAGGGG (n.7835+70_7835+71insTAGGGG) c.7832+70_7832+71insTAGGGG (n.7832+70_7832+71insTAGGGG) c.1287+70_1287+71insTAGGGG n.7918+70_7918+71insTAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insGAGAGGGAGGGG | CA2584900803 | RYR1 | c.7835+70_7835+71insGAGAGGGAGGGG (n.7835+70_7835+71insGAGAGGGAGGGG) c.7832+70_7832+71insGAGAGGGAGGGG (n.7832+70_7832+71insGAGAGGGAGGGG) c.1287+70_1287+71insGAGAGGGAGGGG n.7918+70_7918+71insGAGAGGGAGGGG | gnomAD v4 |
19 | g.38502797_38502798insGAGGAGGAGGGG | CA995718058 | RYR1 | c.7835+70_7835+71insGAGGAGGAGGGG (n.7835+70_7835+71insGAGGAGGAGGGG) c.7832+70_7832+71insGAGGAGGAGGGG (n.7832+70_7832+71insGAGGAGGAGGGG) c.1287+70_1287+71insGAGGAGGAGGGG n.7918+70_7918+71insGAGGAGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insGAGGGGGAGGGG | CA633066283 | RYR1 | c.7835+70_7835+71insGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGGAGGGG) c.7832+70_7832+71insGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGGAGGGG) c.1287+70_1287+71insGAGGGGGAGGGG n.7918+70_7918+71insGAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insGAGGGGGAGGGGGAGGGG | CA633066284 | RYR1 | c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG) c.7832+70_7832+71insGAGGGGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGGAGGGGGAGGGG) c.1287+70_1287+71insGAGGGGGAGGGGGAGGGG n.7918+70_7918+71insGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insGAGGGGGAGGTGGAGGGGGAGGGG | CA2584900799 | RYR1 | c.7835+70_7835+71insGAGGGGGAGGTGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGGAGGTGGAGGGGGAGGGG) c.7832+70_7832+71insGAGGGGGAGGTGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGGAGGTGGAGGGGGAGGGG) c.1287+70_1287+71insGAGGGGGAGGTGGAGGGGGAGGGG n.7918+70_7918+71insGAGGGGGAGGTGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502797_38502798insGAGGGGCAGGGGGAGGGGGAGGGG | CA2584900796 | RYR1 | c.7835+70_7835+71insGAGGGGCAGGGGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGCAGGGGGAGGGGGAGGGG) c.7832+70_7832+71insGAGGGGCAGGGGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGCAGGGGGAGGGGGAGGGG) c.1287+70_1287+71insGAGGGGCAGGGGGAGGGGGAGGGG n.7918+70_7918+71insGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502797_38502798insGAGGGGGAGGGGGAGGGGGAGGGG | CA920105606 | RYR1 | c.7835+70_7835+71insGAGGGGGAGGGGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGGAGGGGGAGGGGGAGGGG) c.7832+70_7832+71insGAGGGGGAGGGGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGGAGGGGGAGGGGGAGGGG) c.1287+70_1287+71insGAGGGGGAGGGGGAGGGGGAGGGG n.7918+70_7918+71insGAGGGGGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2584900798 | RYR1 | c.7835+70_7835+71insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7832+70_7832+71insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1287+70_1287+71insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7918+70_7918+71insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502797_38502798insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900797 | RYR1 | c.7835+70_7835+71insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7832+70_7832+71insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1287+70_1287+71insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7918+70_7918+71insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502797_38502798insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900807 | RYR1 | c.7835+70_7835+71insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7835+70_7835+71insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7832+70_7832+71insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7832+70_7832+71insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1287+70_1287+71insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7918+70_7918+71insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGG | CA995718064 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGG) c.7833-77_7833-76insGAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGG) c.1288-77_1288-76insGAGGGGCAGGGG n.7919-77_7919-76insGAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insTAGGGGCAGGGG | CA995718062 | RYR1 | c.7836-77_7836-76insTAGGGGCAGGGG (n.7836-77_7836-76insTAGGGGCAGGGG) c.7833-77_7833-76insTAGGGGCAGGGG (n.7833-77_7833-76insTAGGGGCAGGGG) c.1288-77_1288-76insTAGGGGCAGGGG n.7919-77_7919-76insTAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGCAGGGG | CA995718056 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGCAGGGG) c.7833-77_7833-76insGAGGGGGAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGCAGGGG) c.1288-77_1288-76insGAGGGGGAGGGGCAGGGG n.7919-77_7919-76insGAGGGGGAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGGAGGGGCAGGGG | CA2582145381 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGCAGGGG n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | CA2582145380 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | CA2584900809 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | CA2584900808 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502793_38502805del | CA2814347164 | RYR1 | c.7835+66_7836-75del (n.7835+66_7836-75del) c.7832+66_7833-75del (n.7832+66_7833-75del) c.1287+66_1288-75del n.7918+66_7919-75del | |
19 | g.38502793_38502808del | CA995718033 | RYR1 | c.7835+66_7836-72del (n.7835+66_7836-72del) c.7832+66_7833-72del (n.7832+66_7833-72del) c.1287+66_1288-72del n.7918+66_7919-72del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGCAGGGGCAGGGG | CA995718072 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGGAGGGGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGTAGGGGCAGGGGCAGGGG | CA2584900806 | RYR1 | c.7836-71_7836-70insCAGGGGTAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGTAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGTAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGTAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGTAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGTAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG | CA2569944801 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG | CA2584900805 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502796_38502813dup | CA995718070 | RYR1 | c.7835+69_7836-67dup (n.7835+69_7836-67dup) c.7832+69_7833-67dup (n.7832+69_7833-67dup) c.1287+69_1288-67dup n.7918+69_7919-67dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502796_38502813del | CA633066281 | RYR1 | c.7835+69_7836-67del (n.7835+69_7836-67del) c.7832+69_7833-67del (n.7832+69_7833-67del) c.1287+69_1288-67del n.7918+69_7919-67del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502793_38502817del | CA2814347163 | RYR1 | c.7835+66_7836-63del (n.7835+66_7836-63del) c.7832+66_7833-63del (n.7832+66_7833-63del) c.1287+66_1288-63del n.7918+66_7919-63del | |
19 | g.38502793_38502820delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG | CA2335054617 | RYR1 | c.7835+66_7836-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG (n.7835+66_7836-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG) c.7832+66_7833-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG (n.7832+66_7833-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG) c.1287+66_1288-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG n.7918+66_7919-60delinsAGGGGCAGGGGCAGGGGGAGGAGCAGGG | |
19 | g.38502793_38502823del | CA2814347162 | RYR1 | c.7835+66_7836-57del (n.7835+66_7836-57del) c.7832+66_7833-57del (n.7832+66_7833-57del) c.1287+66_1288-57del n.7918+66_7919-57del | |
19 | g.38502793_38502825del | CA2584900801 | RYR1 | c.7835+66_7836-55del (n.7835+66_7836-55del) c.7832+66_7833-55del (n.7832+66_7833-55del) c.1287+66_1288-55del n.7918+66_7919-55del | gnomAD v4 |
19 | g.38502794G>A | CA2335054622 | RYR1 | c.7835+67G>A (n.7835+67G>A) c.7832+67G>A (n.7832+67G>A) c.1287+67G>A n.7918+67G>A | dbSNP gnomAD v4 |
19 | g.38502794G>C | CA2335054621 | RYR1 | c.7835+67G>C (n.7835+67G>C) c.7832+67G>C (n.7832+67G>C) c.1287+67G>C n.7918+67G>C | dbSNP gnomAD v4 |
19 | g.38502794G= | CA2335054620 | RYR1 | c.7835+67G= (n.7835+67G=) c.7832+67G= (n.7832+67G=) c.1287+67G= n.7918+67G= | |
19 | g.38502794G>T | CA2584900810 | RYR1 | c.7835+67G>T (n.7835+67G>T) c.7832+67G>T (n.7832+67G>T) c.1287+67G>T n.7918+67G>T | gnomAD v4 |
19 | g.38502797_38502798insGAGGGGGGGGGG | CA2814347181 | RYR1 | c.7835+70_7835+71insGAGGGGGGGGGG (n.7835+70_7835+71insGAGGGGGGGGGG) c.7832+70_7832+71insGAGGGGGGGGGG (n.7832+70_7832+71insGAGGGGGGGGGG) c.1287+70_1287+71insGAGGGGGGGGGG n.7918+70_7918+71insGAGGGGGGGGGG | |
19 | g.38502797del | CA2814347180 | RYR1 | c.7835+70del (n.7835+70del) c.7832+70del (n.7832+70del) c.1287+70del n.7918+70del | |
19 | g.38502795_38502797del | CA633066285 | RYR1 | c.7835+68_7835+70del (n.7835+68_7835+70del) c.7832+68_7832+70del (n.7832+68_7832+70del) c.1287+68_1287+70del n.7918+68_7918+70del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502794_38502798del | CA2584900814 | RYR1 | c.7835+67_7835+71del (n.7835+67_7835+71del) c.7832+67_7832+71del (n.7832+67_7832+71del) c.1287+67_1287+71del n.7918+67_7918+71del | dbSNP gnomAD v4 |
19 | g.38502794_38502798delinsGGGGC | CA2335054625 | RYR1 | c.7835+67_7835+71delinsGGGGC (n.7835+67_7835+71delinsGGGGC) c.7832+67_7832+71delinsGGGGC (n.7832+67_7832+71delinsGGGGC) c.1287+67_1287+71delinsGGGGC n.7918+67_7918+71delinsGGGGC | |
19 | g.38502798_38502799insCGGGGC | CA2584900815 | RYR1 | c.7835+71_7835+72insCGGGGC (n.7835+71_7835+72insCGGGGC) c.7832+71_7832+72insCGGGGC (n.7832+71_7832+72insCGGGGC) c.1287+71_1287+72insCGGGGC n.7918+71_7918+72insCGGGGC | gnomAD v4 |
19 | g.38502795_38502803del | CA2584900813 | RYR1 | c.7835+68_7836-77del (n.7835+68_7836-77del) c.7832+68_7833-77del (n.7832+68_7833-77del) c.1287+68_1288-77del n.7918+68_7919-77del | gnomAD v4 |
19 | g.38502794_38502804delinsGGGGCAGGGGC | CA2335054624 | RYR1 | c.7835+67_7836-76delinsGGGGCAGGGGC (n.7835+67_7836-76delinsGGGGCAGGGGC) c.7832+67_7833-76delinsGGGGCAGGGGC (n.7832+67_7833-76delinsGGGGCAGGGGC) c.1287+67_1288-76delinsGGGGCAGGGGC n.7918+67_7919-76delinsGGGGCAGGGGC | |
19 | g.38502804_38502805insCGGGGCAGGGGC | CA2584900816 | RYR1 | c.7836-76_7836-75insCGGGGCAGGGGC (n.7836-76_7836-75insCGGGGCAGGGGC) c.7833-76_7833-75insCGGGGCAGGGGC (n.7833-76_7833-75insCGGGGCAGGGGC) c.1288-76_1288-75insCGGGGCAGGGGC n.7919-76_7919-75insCGGGGCAGGGGC | gnomAD v4 |
19 | g.38502809_38502810insCTGGGGCAGGGGCAGGGG | CA2814347182 | RYR1 | c.7836-71_7836-70insCTGGGGCAGGGGCAGGGG (n.7836-71_7836-70insCTGGGGCAGGGGCAGGGG) c.7833-71_7833-70insCTGGGGCAGGGGCAGGGG (n.7833-71_7833-70insCTGGGGCAGGGGCAGGGG) c.1288-71_1288-70insCTGGGGCAGGGGCAGGGG n.7919-71_7919-70insCTGGGGCAGGGGCAGGGG | |
19 | g.38502796_38502810del | CA2539088332 | RYR1 | c.7835+69_7836-70del (n.7835+69_7836-70del) c.7832+69_7833-70del (n.7832+69_7833-70del) c.1287+69_1288-70del n.7918+69_7919-70del | gnomAD v4 |
19 | g.38502795_38502810del | CA2584900812 | RYR1 | c.7835+68_7836-70del (n.7835+68_7836-70del) c.7832+68_7833-70del (n.7832+68_7833-70del) c.1287+68_1288-70del n.7918+68_7919-70del | gnomAD v4 |
19 | g.38502794_38502814delinsGGGGCAGGGGCAGGGGGAGGA | CA2335054623 | RYR1 | c.7835+67_7836-66delinsGGGGCAGGGGCAGGGGGAGGA (n.7835+67_7836-66delinsGGGGCAGGGGCAGGGGGAGGA) c.7832+67_7833-66delinsGGGGCAGGGGCAGGGGGAGGA (n.7832+67_7833-66delinsGGGGCAGGGGCAGGGGGAGGA) c.1287+67_1288-66delinsGGGGCAGGGGCAGGGGGAGGA n.7918+67_7919-66delinsGGGGCAGGGGCAGGGGGAGGA | |
19 | g.38502795_38502821del | CA995718092 | RYR1 | c.7835+68_7836-59del (n.7835+68_7836-59del) c.7832+68_7833-59del (n.7832+68_7833-59del) c.1287+68_1288-59del n.7918+68_7919-59del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502794_38502827del | CA2584900811 | RYR1 | c.7835+67_7836-53del (n.7835+67_7836-53del) c.7832+67_7833-53del (n.7832+67_7833-53del) c.1287+67_1288-53del n.7918+67_7919-53del | gnomAD v4 |
19 | g.38502794_38502795insCA | CA995718105 | RYR1 | c.7835+67_7835+68insCA (n.7835+67_7835+68insCA) c.7832+67_7832+68insCA (n.7832+67_7832+68insCA) c.1287+67_1287+68insCA n.7918+67_7918+68insCA | gnomAD v3 gnomAD v4 |
19 | g.38502794_38502795insCAGAGC | CA633066287 | RYR1 | c.7835+67_7835+68insCAGAGC (n.7835+67_7835+68insCAGAGC) c.7832+67_7832+68insCAGAGC (n.7832+67_7832+68insCAGAGC) c.1287+67_1287+68insCAGAGC n.7918+67_7918+68insCAGAGC | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502795G>A | CA633066286 | RYR1 | c.7835+68G>A (n.7835+68G>A) c.7832+68G>A (n.7832+68G>A) c.1287+68G>A n.7918+68G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502795G>C | CA2335054628 | RYR1 | c.7835+68G>C (n.7835+68G>C) c.7832+68G>C (n.7832+68G>C) c.1287+68G>C n.7918+68G>C | dbSNP gnomAD v4 |
19 | g.38502795G= | CA2335054626 | RYR1 | c.7835+68G= (n.7835+68G=) c.7832+68G= (n.7832+68G=) c.1287+68G= n.7918+68G= | |
19 | g.38502795G>T | CA2584900817 | RYR1 | c.7835+68G>T (n.7835+68G>T) c.7832+68G>T (n.7832+68G>T) c.1287+68G>T n.7918+68G>T | gnomAD v4 |
19 | g.38502795_38502798del | CA308112886 | RYR1 | c.7835+68_7835+71del (n.7835+68_7835+71del) c.7832+68_7832+71del (n.7832+68_7832+71del) c.1287+68_1287+71del n.7918+68_7918+71del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502795_38502798delinsGGGC | CA2335054627 | RYR1 | c.7835+68_7835+71delinsGGGC (n.7835+68_7835+71delinsGGGC) c.7832+68_7832+71delinsGGGC (n.7832+68_7832+71delinsGGGC) c.1287+68_1287+71delinsGGGC n.7918+68_7918+71delinsGGGC | |
19 | g.38502799_38502800insCGGGCA | CA2335054629 | RYR1 | c.7835+72_7835+73insCGGGCA (n.7835+72_7835+73insCGGGCA) c.7832+72_7832+73insCGGGCA (n.7832+72_7832+73insCGGGCA) c.1287+72_1287+73insCGGGCA n.7918+72_7918+73insCGGGCA | dbSNP gnomAD v4 |
19 | g.38502795_38502804del | CA633066288 | RYR1 | c.7835+68_7836-76del (n.7835+68_7836-76del) c.7832+68_7833-76del (n.7832+68_7833-76del) c.1287+68_1288-76del n.7918+68_7919-76del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCACGGGCAGGGGCAGGGG | CA995718115 | RYR1 | c.7836-71_7836-70insCACGGGCAGGGGCAGGGG (n.7836-71_7836-70insCACGGGCAGGGGCAGGGG) c.7833-71_7833-70insCACGGGCAGGGGCAGGGG (n.7833-71_7833-70insCACGGGCAGGGGCAGGGG) c.1288-71_1288-70insCACGGGCAGGGGCAGGGG n.7919-71_7919-70insCACGGGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502796_38502815del | CA633066289 | RYR1 | c.7835+69_7836-65del (n.7835+69_7836-65del) c.7832+69_7833-65del (n.7832+69_7833-65del) c.1287+69_1288-65del n.7918+69_7919-65del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502795_38502816del | CA995718119 | RYR1 | c.7835+68_7836-64del (n.7835+68_7836-64del) c.7832+68_7833-64del (n.7832+68_7833-64del) c.1287+68_1288-64del n.7918+68_7919-64del | gnomAD v3 gnomAD v4 |
19 | g.38502795_38502822del | CA2584900818 | RYR1 | c.7835+68_7836-58del (n.7835+68_7836-58del) c.7832+68_7833-58del (n.7832+68_7833-58del) c.1287+68_1288-58del n.7918+68_7919-58del | gnomAD v4 |
19 | g.38502796G>A | CA633066291 | RYR1 | c.7835+69G>A (n.7835+69G>A) c.7832+69G>A (n.7832+69G>A) c.1287+69G>A n.7918+69G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502796G= | CA2335054630 | RYR1 | c.7835+69G= (n.7835+69G=) c.7832+69G= (n.7832+69G=) c.1287+69G= n.7918+69G= | |
19 | g.38502796_38502798del | CA633066290 | RYR1 | c.7835+69_7835+71del (n.7835+69_7835+71del) c.7832+69_7832+71del (n.7832+69_7832+71del) c.1287+69_1287+71del n.7918+69_7918+71del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502796_38502798delinsGGC | CA2335054633 | RYR1 | c.7835+69_7835+71delinsGGC (n.7835+69_7835+71delinsGGC) c.7832+69_7832+71delinsGGC (n.7832+69_7832+71delinsGGC) c.1287+69_1287+71delinsGGC n.7918+69_7918+71delinsGGC | |
19 | g.38502796_38502799delinsGGCA | CA2335054632 | RYR1 | c.7835+69_7835+72delinsGGCA (n.7835+69_7835+72delinsGGCA) c.7832+69_7832+72delinsGGCA (n.7832+69_7832+72delinsGGCA) c.1287+69_1287+72delinsGGCA n.7918+69_7918+72delinsGGCA | |
19 | g.38502800_38502801insTGGCAG | CA995718125 | RYR1 | c.7835+73_7835+74insTGGCAG (n.7835+73_7835+74insTGGCAG) c.7832+73_7832+74insTGGCAG (n.7832+73_7832+74insTGGCAG) c.1287+73_1287+74insTGGCAG n.7918+73_7918+74insTGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502796_38502805delinsGGCAGGGGCA | CA2335054631 | RYR1 | c.7835+69_7836-75delinsGGCAGGGGCA (n.7835+69_7836-75delinsGGCAGGGGCA) c.7832+69_7833-75delinsGGCAGGGGCA (n.7832+69_7833-75delinsGGCAGGGGCA) c.1287+69_1288-75delinsGGCAGGGGCA n.7918+69_7919-75delinsGGCAGGGGCA | |
19 | g.38502796_38502814delinsGGCAGGGGCAGGGGGAGGA | CA2335054634 | RYR1 | c.7835+69_7836-66delinsGGCAGGGGCAGGGGGAGGA (n.7835+69_7836-66delinsGGCAGGGGCAGGGGGAGGA) c.7832+69_7833-66delinsGGCAGGGGCAGGGGGAGGA (n.7832+69_7833-66delinsGGCAGGGGCAGGGGGAGGA) c.1287+69_1288-66delinsGGCAGGGGCAGGGGGAGGA n.7918+69_7919-66delinsGGCAGGGGCAGGGGGAGGA | |
19 | g.38502796_38502831del | CA2584900819 | RYR1 | c.7835+69_7836-49del (n.7835+69_7836-49del) c.7832+69_7833-49del (n.7832+69_7833-49del) c.1287+69_1288-49del n.7918+69_7919-49del | gnomAD v4 |
19 | g.38502797G>A | CA2335054636 | RYR1 | c.7835+70G>A (n.7835+70G>A) c.7832+70G>A (n.7832+70G>A) c.1287+70G>A n.7918+70G>A | dbSNP gnomAD v4 |
19 | g.38502797G= | CA2335054637 | RYR1 | c.7835+70G= (n.7835+70G=) c.7832+70G= (n.7832+70G=) c.1287+70G= n.7918+70G= | |
19 | g.38502797_38502798insGAGGAG | CA995718132 | RYR1 | c.7835+70_7835+71insGAGGAG (n.7835+70_7835+71insGAGGAG) c.7832+70_7832+71insGAGGAG (n.7832+70_7832+71insGAGGAG) c.1287+70_1287+71insGAGGAG n.7918+70_7918+71insGAGGAG | gnomAD v3 gnomAD v4 |
19 | g.38502797_38502798del | CA633066292 | RYR1 | c.7835+70_7835+71del (n.7835+70_7835+71del) c.7832+70_7832+71del (n.7832+70_7832+71del) c.1287+70_1287+71del n.7918+70_7918+71del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502797_38502799delinsGCA | CA2335054638 | RYR1 | c.7835+70_7835+72delinsGCA (n.7835+70_7835+72delinsGCA) c.7832+70_7832+72delinsGCA (n.7832+70_7832+72delinsGCA) c.1287+70_1287+72delinsGCA n.7918+70_7918+72delinsGCA | |
19 | g.38502798_38502800del | CA2335054639 | RYR1 | c.7835+71_7835+73del (n.7835+71_7835+73del) c.7832+71_7832+73del (n.7832+71_7832+73del) c.1287+71_1287+73del n.7918+71_7918+73del | dbSNP |
19 | g.38502801_38502802insAGCAGG | CA914324678 | RYR1 | c.7835+74_7835+75insAGCAGG (n.7835+74_7835+75insAGCAGG) c.7832+74_7832+75insAGCAGG (n.7832+74_7832+75insAGCAGG) c.1287+74_1287+75insAGCAGG n.7918+74_7918+75insAGCAGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGAGCAGGGG | CA995718133 | RYR1 | c.7836-77_7836-76insGAGGAGCAGGGG (n.7836-77_7836-76insGAGGAGCAGGGG) c.7833-77_7833-76insGAGGAGCAGGGG (n.7833-77_7833-76insGAGGAGCAGGGG) c.1288-77_1288-76insGAGGAGCAGGGG n.7919-77_7919-76insGAGGAGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502798_38502806del | CA2335054635 | RYR1 | c.7835+71_7836-74del (n.7835+71_7836-74del) c.7832+71_7833-74del (n.7832+71_7833-74del) c.1287+71_1288-74del n.7918+71_7919-74del | dbSNP |
19 | g.38502807_38502808insAGCAGGGGCAGG | CA2584900823 | RYR1 | c.7836-73_7836-72insAGCAGGGGCAGG (n.7836-73_7836-72insAGCAGGGGCAGG) c.7833-73_7833-72insAGCAGGGGCAGG (n.7833-73_7833-72insAGCAGGGGCAGG) c.1288-73_1288-72insAGCAGGGGCAGG n.7919-73_7919-72insAGCAGGGGCAGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGAGCAGGGGCAGGGG | CA995718134 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGAGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGGAGGAGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG | CA995718136 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG | CA2584900821 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG | CA2584900820 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG | CA2584900822 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502810_38502827dup | CA633066293 | RYR1 | c.7836-70_7836-53dup (n.7836-70_7836-53dup) c.7833-70_7833-53dup (n.7833-70_7833-53dup) c.1288-70_1288-53dup n.7919-70_7919-53dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502810_38502827del | CA507353994 | RYR1 | c.7836-70_7836-53del (n.7836-70_7836-53del) c.7833-70_7833-53del (n.7833-70_7833-53del) c.1288-70_1288-53del n.7919-70_7919-53del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502798del | CA995718145 | RYR1 | c.7835+71del (n.7835+71del) c.7832+71del (n.7832+71del) c.1287+71del n.7918+71del | gnomAD v3 gnomAD v4 |
19 | g.38502798C>A | CA2584900825 | RYR1 | c.7835+71C>A (n.7835+71C>A) c.7832+71C>A (n.7832+71C>A) c.1287+71C>A n.7918+71C>A | gnomAD v4 |
19 | g.38502798C= | CA2335054640 | RYR1 | c.7835+71C= (n.7835+71C=) c.7832+71C= (n.7832+71C=) c.1287+71C= n.7918+71C= | |
19 | g.38502798C>G | CA308112890 | RYR1 | c.7835+71C>G (n.7835+71C>G) c.7832+71C>G (n.7832+71C>G) c.1287+71C>G n.7918+71C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502798C>T | CA882054142 | RYR1 | c.7835+71C>T (n.7835+71C>T) c.7832+71C>T (n.7832+71C>T) c.1287+71C>T n.7918+71C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502798_38502799del | CA633066294 | RYR1 | c.7835+71_7835+72del (n.7835+71_7835+72del) c.7832+71_7832+72del (n.7832+71_7832+72del) c.1287+71_1287+72del n.7918+71_7918+72del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502802_38502803insACAGGG | CA2584900824 | RYR1 | c.7835+75_7836-77insACAGGG (n.7835+75_7836-77insACAGGG) c.7832+75_7833-77insACAGGG (n.7832+75_7833-77insACAGGG) c.1287+75_1288-77insACAGGG n.7918+75_7919-77insACAGGG | gnomAD v4 |
19 | g.38502798_38502810delinsCAGGGGCAGGGGG | CA2335054642 | RYR1 | c.7835+71_7836-70delinsCAGGGGCAGGGGG (n.7835+71_7836-70delinsCAGGGGCAGGGGG) c.7832+71_7833-70delinsCAGGGGCAGGGGG (n.7832+71_7833-70delinsCAGGGGCAGGGGG) c.1287+71_1288-70delinsCAGGGGCAGGGGG n.7918+71_7919-70delinsCAGGGGCAGGGGG | |
19 | g.38502798_38502825delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG | CA2335054641 | RYR1 | c.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG (n.7835+71_7836-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG) c.7832+71_7833-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG (n.7832+71_7833-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG) c.1287+71_1288-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG n.7918+71_7919-55delinsCAGGGGCAGGGGGAGGAGCAGGGGCAGG | |
19 | g.38502798_38502799insCGGGGGAGGGGGAGGGGG | CA2584900834 | RYR1 | c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG (n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG) c.7832+71_7832+72insCGGGGGAGGGGGAGGGGG (n.7832+71_7832+72insCGGGGGAGGGGGAGGGGG) c.1287+71_1287+72insCGGGGGAGGGGGAGGGGG n.7918+71_7918+72insCGGGGGAGGGGGAGGGGG | gnomAD v4 |
19 | g.38502799del | CA2814347224 | RYR1 | c.7835+72del (n.7835+72del) c.7832+72del (n.7832+72del) c.1287+72del n.7918+72del | |
19 | g.38502799A= | CA2335054645 | RYR1 | c.7835+72A= (n.7835+72A=) c.7832+72A= (n.7832+72A=) c.1287+72A= n.7918+72A= | |
19 | g.38502799A>C | CA2528574926 | RYR1 | c.7835+72A>C (n.7835+72A>C) c.7832+72A>C (n.7832+72A>C) c.1287+72A>C n.7918+72A>C | gnomAD v4 |
19 | g.38502799A>G | CA882054153 | RYR1 | c.7835+72A>G (n.7835+72A>G) c.7832+72A>G (n.7832+72A>G) c.1287+72A>G n.7918+72A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502799A>T | CA2576771126 | RYR1 | c.7835+72A>T (n.7835+72A>T) c.7832+72A>T (n.7832+72A>T) c.1287+72A>T n.7918+72A>T | gnomAD v4 |
19 | g.38502800_38502801insCAGAGCAGGGGGAG | CA2584900836 | RYR1 | c.7835+73_7835+74insCAGAGCAGGGGGAG (n.7835+73_7835+74insCAGAGCAGGGGGAG) c.7832+73_7832+74insCAGAGCAGGGGGAG (n.7832+73_7832+74insCAGAGCAGGGGGAG) c.1287+73_1287+74insCAGAGCAGGGGGAG n.7918+73_7918+74insCAGAGCAGGGGGAG | gnomAD v4 |
19 | g.38502800_38502801insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG | CA2584900835 | RYR1 | c.7835+73_7835+74insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG (n.7835+73_7835+74insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG) c.7832+73_7832+74insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG (n.7832+73_7832+74insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG) c.1287+73_1287+74insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG n.7918+73_7918+74insAGGGAGGGGGAGGGGGAGGGGGAGGGGGAG | gnomAD v4 |
19 | g.38502799_38502802delinsAGGG | CA2335054648 | RYR1 | c.7835+72_7835+75delinsAGGG (n.7835+72_7835+75delinsAGGG) c.7832+72_7832+75delinsAGGG (n.7832+72_7832+75delinsAGGG) c.1287+72_1287+75delinsAGGG n.7918+72_7918+75delinsAGGG | |
19 | g.38502799_38502803del | CA2814347223 | RYR1 | c.7835+72_7836-77del (n.7835+72_7836-77del) c.7832+72_7833-77del (n.7832+72_7833-77del) c.1287+72_1288-77del n.7918+72_7919-77del | |
19 | g.38502799_38502803delinsAGGGG | CA2335054647 | RYR1 | c.7835+72_7836-77delinsAGGGG (n.7835+72_7836-77delinsAGGGG) c.7832+72_7833-77delinsAGGGG (n.7832+72_7833-77delinsAGGGG) c.1287+72_1288-77delinsAGGGG n.7918+72_7919-77delinsAGGGG | |
19 | g.38502803_38502804insGAGGGG | CA882054148 | RYR1 | c.7836-77_7836-76insGAGGGG (n.7836-77_7836-76insGAGGGG) c.7833-77_7833-76insGAGGGG (n.7833-77_7833-76insGAGGGG) c.1288-77_1288-76insGAGGGG n.7919-77_7919-76insGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insTAGGGG | CA2576771125 | RYR1 | c.7836-77_7836-76insTAGGGG (n.7836-77_7836-76insTAGGGG) c.7833-77_7833-76insTAGGGG (n.7833-77_7833-76insTAGGGG) c.1288-77_1288-76insTAGGGG n.7919-77_7919-76insTAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGAGGAGGGG | CA2584900841 | RYR1 | c.7836-77_7836-76insGAGGAGGAGGGG (n.7836-77_7836-76insGAGGAGGAGGGG) c.7833-77_7833-76insGAGGAGGAGGGG (n.7833-77_7833-76insGAGGAGGAGGGG) c.1288-77_1288-76insGAGGAGGAGGGG n.7919-77_7919-76insGAGGAGGAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGG | CA633066297 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGGAGGGG | CA633066298 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGGGGGGGAGGGG | CA2584900833 | RYR1 | c.7836-77_7836-76insGAGGGGGGGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGGGGGGGAGGGG) c.7833-77_7833-76insGAGGGGGGGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGGGGGGGAGGGG) c.1288-77_1288-76insGAGGGGGGGGGGGAGGGG n.7919-77_7919-76insGAGGGGGGGGGGGAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGGGAGGGGGAGGGG | CA2582145382 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGGAGGGGGAGGGG | CA995718179 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2335054650 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | dbSNP gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA995718181 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA995718163 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | CA2582145383 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900829 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584900826 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584900842 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900832 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502803_38502804insAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2831919528 | RYR1 | c.7836-77_7836-76insAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-77_7919-76insAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | |
19 | g.38502803_38502804insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900838 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584900831 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900827 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2584900830 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-77_7919-76insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG | CA2584900828 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG) c.7833-77_7833-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG) c.1288-77_1288-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG n.7919-77_7919-76insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502808_38502809insTGAGGGGCAGGG | CA2584900840 | RYR1 | c.7836-72_7836-71insTGAGGGGCAGGG (n.7836-72_7836-71insTGAGGGGCAGGG) c.7833-72_7833-71insTGAGGGGCAGGG (n.7833-72_7833-71insTGAGGGGCAGGG) c.1288-72_1288-71insTGAGGGGCAGGG n.7919-72_7919-71insTGAGGGGCAGGG | gnomAD v4 |
19 | g.38502799_38502809delinsAGGGGCAGGGG | CA2335054646 | RYR1 | c.7835+72_7836-71delinsAGGGGCAGGGG (n.7835+72_7836-71delinsAGGGGCAGGGG) c.7832+72_7833-71delinsAGGGGCAGGGG (n.7832+72_7833-71delinsAGGGGCAGGGG) c.1287+72_1288-71delinsAGGGGCAGGGG n.7918+72_7919-71delinsAGGGGCAGGGG | |
19 | g.38502809_38502810insCAGGGGGAGGGGCAGGGG | CA633066295 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGCAGGGG n.7919-71_7919-70insCAGGGGGAGGGGCAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGTAGGGGCAGGGG | CA2584900839 | RYR1 | c.7836-71_7836-70insCAGGGGTAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGTAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGTAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGTAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGTAGGGGCAGGGG n.7919-71_7919-70insCAGGGGTAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGG | CA920105610 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGGAGGGGCAGGGG | CA920105611 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGGAGGGGCAGGGG n.7919-71_7919-70insCAGGGGGAGGGGGAGGGGCAGGGG | dbSNP gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG | CA995718184 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2570982574 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG | CA2584900837 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG | CA995718183 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG | CA2508541197 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGG | |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG | CA995718186 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502813_38502814insGGGAGGGGCAGGGGGAGG | CA2335054649 | RYR1 | c.7836-67_7836-66insGGGAGGGGCAGGGGGAGG (n.7836-67_7836-66insGGGAGGGGCAGGGGGAGG) c.7833-67_7833-66insGGGAGGGGCAGGGGGAGG (n.7833-67_7833-66insGGGAGGGGCAGGGGGAGG) c.1288-67_1288-66insGGGAGGGGCAGGGGGAGG n.7919-67_7919-66insGGGAGGGGCAGGGGGAGG | dbSNP gnomAD v4 |
19 | g.38502802_38502813dup | CA633066296 | RYR1 | c.7835+75_7836-67dup (n.7835+75_7836-67dup) c.7832+75_7833-67dup (n.7832+75_7833-67dup) c.1287+75_1288-67dup n.7918+75_7919-67dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502802_38502813del | CA882054160 | RYR1 | c.7835+75_7836-67del (n.7835+75_7836-67del) c.7832+75_7833-67del (n.7832+75_7833-67del) c.1287+75_1288-67del n.7918+75_7919-67del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502799_38502817del | CA2814347221 | RYR1 | c.7835+72_7836-63del (n.7835+72_7836-63del) c.7832+72_7833-63del (n.7832+72_7833-63del) c.1287+72_1288-63del n.7918+72_7919-63del | |
19 | g.38502799_38502820delinsAGGGGCAGGGGGAGGAGCAGGG | CA2335054644 | RYR1 | c.7835+72_7836-60delinsAGGGGCAGGGGGAGGAGCAGGG (n.7835+72_7836-60delinsAGGGGCAGGGGGAGGAGCAGGG) c.7832+72_7833-60delinsAGGGGCAGGGGGAGGAGCAGGG (n.7832+72_7833-60delinsAGGGGCAGGGGGAGGAGCAGGG) c.1287+72_1288-60delinsAGGGGCAGGGGGAGGAGCAGGG n.7918+72_7919-60delinsAGGGGCAGGGGGAGGAGCAGGG | |
19 | g.38502799_38502823del | CA2584900843 | RYR1 | c.7835+72_7836-57del (n.7835+72_7836-57del) c.7832+72_7833-57del (n.7832+72_7833-57del) c.1287+72_1288-57del n.7918+72_7919-57del | gnomAD v4 |
19 | g.38502799_38502825del | CA995718158 | RYR1 | c.7835+72_7836-55del (n.7835+72_7836-55del) c.7832+72_7833-55del (n.7832+72_7833-55del) c.1287+72_1288-55del n.7918+72_7919-55del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502799_38502828delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC | CA2335054643 | RYR1 | c.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC (n.7835+72_7836-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC) c.7832+72_7833-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC (n.7832+72_7833-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC) c.1287+72_1288-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC n.7918+72_7919-52delinsAGGGGCAGGGGGAGGAGCAGGGGCAGGGGC | |
19 | g.38502799_38502800insT | CA2584900851 | RYR1 | c.7835+72_7835+73insT (n.7835+72_7835+73insT) c.7832+72_7832+73insT (n.7832+72_7832+73insT) c.1287+72_1287+73insT n.7918+72_7918+73insT | gnomAD v4 |
19 | g.38502800G>A | CA2584900845 | RYR1 | c.7835+73G>A (n.7835+73G>A) c.7832+73G>A (n.7832+73G>A) c.1287+73G>A n.7918+73G>A | gnomAD v4 |
19 | g.38502800G= | CA2335054651 | RYR1 | c.7835+73G= (n.7835+73G=) c.7832+73G= (n.7832+73G=) c.1287+73G= n.7918+73G= | |
19 | g.38502800G>T | CA2584900844 | RYR1 | c.7835+73G>T (n.7835+73G>T) c.7832+73G>T (n.7832+73G>T) c.1287+73G>T n.7918+73G>T | gnomAD v4 |
19 | g.38502800_38502803del | CA633066301 | RYR1 | c.7835+73_7836-77del (n.7835+73_7836-77del) c.7832+73_7833-77del (n.7832+73_7833-77del) c.1287+73_1288-77del n.7918+73_7919-77del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGGGGGG | CA2584900852 | RYR1 | c.7836-77_7836-76insGAGGGGGGGGGG (n.7836-77_7836-76insGAGGGGGGGGGG) c.7833-77_7833-76insGAGGGGGGGGGG (n.7833-77_7833-76insGAGGGGGGGGGG) c.1288-77_1288-76insGAGGGGGGGGGG n.7919-77_7919-76insGAGGGGGGGGGG | gnomAD v4 |
19 | g.38502803dup | CA995718194 | RYR1 | c.7836-77dup (n.7836-77dup) c.7833-77dup (n.7833-77dup) c.1288-77dup n.7919-77dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502801_38502803del | CA633066299 | RYR1 | c.7835+74_7836-77del (n.7835+74_7836-77del) c.7832+74_7833-77del (n.7832+74_7833-77del) c.1287+74_1288-77del n.7918+74_7919-77del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502800_38502804del | CA2584900850 | RYR1 | c.7835+73_7836-76del (n.7835+73_7836-76del) c.7832+73_7833-76del (n.7832+73_7833-76del) c.1287+73_1288-76del n.7918+73_7919-76del | gnomAD v4 |
19 | g.38502800_38502804delinsGGGGC | CA2335054652 | RYR1 | c.7835+73_7836-76delinsGGGGC (n.7835+73_7836-76delinsGGGGC) c.7832+73_7833-76delinsGGGGC (n.7832+73_7833-76delinsGGGGC) c.1287+73_1288-76delinsGGGGC n.7918+73_7919-76delinsGGGGC | |
19 | g.38502809_38502810insCAGGGGCAGGGGGCAGGGG | CA920105612 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGCAGGGG | dbSNP |
19 | g.38502804_38502810del | CA2584900849 | RYR1 | c.7836-76_7836-70del (n.7836-76_7836-70del) c.7833-76_7833-70del (n.7833-76_7833-70del) c.1288-76_1288-70del n.7919-76_7919-70del | dbSNP gnomAD v4 |
19 | g.38502802_38502810del | CA633066300 | RYR1 | c.7835+75_7836-70del (n.7835+75_7836-70del) c.7832+75_7833-70del (n.7832+75_7833-70del) c.1287+75_1288-70del n.7918+75_7919-70del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502801_38502810del | CA995718209 | RYR1 | c.7835+74_7836-70del (n.7835+74_7836-70del) c.7832+74_7833-70del (n.7832+74_7833-70del) c.1287+74_1288-70del n.7918+74_7919-70del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502801_38502813del | CA2584900848 | RYR1 | c.7835+74_7836-67del (n.7835+74_7836-67del) c.7832+74_7833-67del (n.7832+74_7833-67del) c.1287+74_1288-67del n.7918+74_7919-67del | gnomAD v4 |
19 | g.38502800_38502814delinsGGGGCAGGGGGAGGA | CA2335054653 | RYR1 | c.7835+73_7836-66delinsGGGGCAGGGGGAGGA (n.7835+73_7836-66delinsGGGGCAGGGGGAGGA) c.7832+73_7833-66delinsGGGGCAGGGGGAGGA (n.7832+73_7833-66delinsGGGGCAGGGGGAGGA) c.1287+73_1288-66delinsGGGGCAGGGGGAGGA n.7918+73_7919-66delinsGGGGCAGGGGGAGGA | |
19 | g.38502800_38502816delinsGGGGCAGGGGGAGGAGC | CA2335054654 | RYR1 | c.7835+73_7836-64delinsGGGGCAGGGGGAGGAGC (n.7835+73_7836-64delinsGGGGCAGGGGGAGGAGC) c.7832+73_7833-64delinsGGGGCAGGGGGAGGAGC (n.7832+73_7833-64delinsGGGGCAGGGGGAGGAGC) c.1287+73_1288-64delinsGGGGCAGGGGGAGGAGC n.7918+73_7919-64delinsGGGGCAGGGGGAGGAGC | |
19 | g.38502800_38502821del | CA2534497867 | RYR1 | c.7835+73_7836-59del (n.7835+73_7836-59del) c.7832+73_7833-59del (n.7832+73_7833-59del) c.1287+73_1288-59del n.7918+73_7919-59del | |
19 | g.38502801_38502821del | CA2335054655 | RYR1 | c.7835+74_7836-59del (n.7835+74_7836-59del) c.7832+74_7833-59del (n.7832+74_7833-59del) c.1287+74_1288-59del n.7918+74_7919-59del | dbSNP |
19 | g.38502800_38502827del | CA2584900846 | RYR1 | c.7835+73_7836-53del (n.7835+73_7836-53del) c.7832+73_7833-53del (n.7832+73_7833-53del) c.1287+73_1288-53del n.7918+73_7919-53del | gnomAD v4 |
19 | g.38502801_38502827del | CA2584900847 | RYR1 | c.7835+74_7836-53del (n.7835+74_7836-53del) c.7832+74_7833-53del (n.7832+74_7833-53del) c.1287+74_1288-53del n.7918+74_7919-53del | gnomAD v4 |
19 | g.38502800_38502828del | CA995718225 | RYR1 | c.7835+73_7836-52del (n.7835+73_7836-52del) c.7832+73_7833-52del (n.7832+73_7833-52del) c.1287+73_1288-52del n.7918+73_7919-52del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502800_38502801insCA | CA995718231 | RYR1 | c.7835+73_7835+74insCA (n.7835+73_7835+74insCA) c.7832+73_7832+74insCA (n.7832+73_7832+74insCA) c.1287+73_1287+74insCA n.7918+73_7918+74insCA | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502800_38502801insTAGAGC | CA2546368036 | RYR1 | c.7835+73_7835+74insTAGAGC (n.7835+73_7835+74insTAGAGC) c.7832+73_7832+74insTAGAGC (n.7832+73_7832+74insTAGAGC) c.1287+73_1287+74insTAGAGC n.7918+73_7918+74insTAGAGC | |
19 | g.38502800_38502801insCAGAGCGA | CA2584900853 | RYR1 | c.7835+73_7835+74insCAGAGCGA (n.7835+73_7835+74insCAGAGCGA) c.7832+73_7832+74insCAGAGCGA (n.7832+73_7832+74insCAGAGCGA) c.1287+73_1287+74insCAGAGCGA n.7918+73_7918+74insCAGAGCGA | gnomAD v4 |
19 | g.38502801G>A | CA882054172 | RYR1 | c.7835+74G>A (n.7835+74G>A) c.7832+74G>A (n.7832+74G>A) c.1287+74G>A n.7918+74G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502801G>C | CA2576771127 | RYR1 | c.7835+74G>C (n.7835+74G>C) c.7832+74G>C (n.7832+74G>C) c.1287+74G>C n.7918+74G>C | gnomAD v4 |
19 | g.38502801G= | CA2335054657 | RYR1 | c.7835+74G= (n.7835+74G=) c.7832+74G= (n.7832+74G=) c.1287+74G= n.7918+74G= | |
19 | g.38502801_38502804del | CA633066302 | RYR1 | c.7835+74_7836-76del (n.7835+74_7836-76del) c.7832+74_7833-76del (n.7832+74_7833-76del) c.1287+74_1288-76del n.7918+74_7919-76del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502802_38502815del | CA308112897 | RYR1 | c.7835+75_7836-65del (n.7835+75_7836-65del) c.7832+75_7833-65del (n.7832+75_7833-65del) c.1287+75_1288-65del n.7918+75_7919-65del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502801_38502816del | CA995718234 | RYR1 | c.7835+74_7836-64del (n.7835+74_7836-64del) c.7832+74_7833-64del (n.7832+74_7833-64del) c.1287+74_1288-64del n.7918+74_7919-64del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502801_38502831delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC | CA2335054656 | RYR1 | c.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC (n.7835+74_7836-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC) c.7832+74_7833-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC (n.7832+74_7833-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC) c.1287+74_1288-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC n.7918+74_7919-49delinsGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGC | |
19 | g.38502801_38502802insA | CA2584900855 | RYR1 | c.7835+74_7835+75insA (n.7835+74_7835+75insA) c.7832+74_7832+75insA (n.7832+74_7832+75insA) c.1287+74_1287+75insA n.7918+74_7918+75insA | gnomAD v4 |
19 | g.38502802G>A | CA308112907 | RYR1 | c.7835+75G>A (n.7835+75G>A) c.7832+75G>A (n.7832+75G>A) c.1287+75G>A n.7918+75G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502802G= | CA2335054658 | RYR1 | c.7835+75G= (n.7835+75G=) c.7832+75G= (n.7832+75G=) c.1287+75G= n.7918+75G= | |
19 | g.38502802_38502804del | CA2584900856 | RYR1 | c.7835+75_7836-76del (n.7835+75_7836-76del) c.7832+75_7833-76del (n.7832+75_7833-76del) c.1287+75_1288-76del n.7918+75_7919-76del | gnomAD v4 |
19 | g.38502806_38502807insCGGCAG | CA2584900854 | RYR1 | c.7836-74_7836-73insCGGCAG (n.7836-74_7836-73insCGGCAG) c.7833-74_7833-73insCGGCAG (n.7833-74_7833-73insCGGCAG) c.1288-74_1288-73insCGGCAG n.7919-74_7919-73insCGGCAG | gnomAD v4 |
19 | g.38502802_38502814delinsGGCAGGGGGAGGA | CA2335054659 | RYR1 | c.7835+75_7836-66delinsGGCAGGGGGAGGA (n.7835+75_7836-66delinsGGCAGGGGGAGGA) c.7832+75_7833-66delinsGGCAGGGGGAGGA (n.7832+75_7833-66delinsGGCAGGGGGAGGA) c.1287+75_1288-66delinsGGCAGGGGGAGGA n.7918+75_7919-66delinsGGCAGGGGGAGGA | |
19 | g.38502802_38502831del | CA995718238 | RYR1 | c.7835+75_7836-49del (n.7835+75_7836-49del) c.7832+75_7833-49del (n.7832+75_7833-49del) c.1287+75_1288-49del n.7918+75_7919-49del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502802_38502803insA | CA2584900870 | RYR1 | c.7835+75_7836-77insA (n.7835+75_7836-77insA) c.7832+75_7833-77insA (n.7832+75_7833-77insA) c.1287+75_1288-77insA n.7918+75_7919-77insA | gnomAD v4 |
19 | g.38502803G>A | CA882054198 | RYR1 | c.7836-77G>A (n.7836-77G>A) c.7833-77G>A (n.7833-77G>A) c.1288-77G>A n.7919-77G>A | dbSNP gnomAD v4 |
19 | g.38502803G>C | CA2584900869 | RYR1 | c.7836-77G>C (n.7836-77G>C) c.7833-77G>C (n.7833-77G>C) c.1288-77G>C n.7919-77G>C | gnomAD v4 |
19 | g.38502803G= | CA2335054660 | RYR1 | c.7836-77G= (n.7836-77G=) c.7833-77G= (n.7833-77G=) c.1288-77G= n.7919-77G= | |
19 | g.38502803_38502804insAGGAG | CA2584900871 | RYR1 | c.7836-77_7836-76insAGGAG (n.7836-77_7836-76insAGGAG) c.7833-77_7833-76insAGGAG (n.7833-77_7833-76insAGGAG) c.1288-77_1288-76insAGGAG n.7919-77_7919-76insAGGAG | gnomAD v4 |
19 | g.38502803_38502804insGAGGAG | CA633066303 | RYR1 | c.7836-77_7836-76insGAGGAG (n.7836-77_7836-76insGAGGAG) c.7833-77_7833-76insGAGGAG (n.7833-77_7833-76insGAGGAG) c.1288-77_1288-76insGAGGAG n.7919-77_7919-76insGAGGAG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGGAGGAG | CA2584900867 | RYR1 | c.7836-77_7836-76insGGAGGAG (n.7836-77_7836-76insGGAGGAG) c.7833-77_7833-76insGGAGGAG (n.7833-77_7833-76insGGAGGAG) c.1288-77_1288-76insGGAGGAG n.7919-77_7919-76insGGAGGAG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGAG | CA2582145384 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGAG (n.7836-77_7836-76insGAGGGGGAGGAG) c.7833-77_7833-76insGAGGGGGAGGAG (n.7833-77_7833-76insGAGGGGGAGGAG) c.1288-77_1288-76insGAGGGGGAGGAG n.7919-77_7919-76insGAGGGGGAGGAG | gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGAGCAGGGGGAGGAG | CA995718257 | RYR1 | c.7836-77_7836-76insGAGGAGCAGGGGGAGGAG (n.7836-77_7836-76insGAGGAGCAGGGGGAGGAG) c.7833-77_7833-76insGAGGAGCAGGGGGAGGAG (n.7833-77_7833-76insGAGGAGCAGGGGGAGGAG) c.1288-77_1288-76insGAGGAGCAGGGGGAGGAG n.7919-77_7919-76insGAGGAGCAGGGGGAGGAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGCAGGGGGAGGAG | CA2582145385 | RYR1 | c.7836-77_7836-76insGAGGGGCAGGGGGAGGAG (n.7836-77_7836-76insGAGGGGCAGGGGGAGGAG) c.7833-77_7833-76insGAGGGGCAGGGGGAGGAG (n.7833-77_7833-76insGAGGGGCAGGGGGAGGAG) c.1288-77_1288-76insGAGGGGCAGGGGGAGGAG n.7919-77_7919-76insGAGGGGCAGGGGGAGGAG | gnomAD v3 gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG | CA2584900866 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG) c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG) c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGCAGGGGGAGGAG | gnomAD v4 |
19 | g.38502803_38502804del | CA2584900868 | RYR1 | c.7836-77_7836-76del (n.7836-77_7836-76del) c.7833-77_7833-76del (n.7833-77_7833-76del) c.1288-77_1288-76del n.7919-77_7919-76del | gnomAD v4 |
19 | g.38502806_38502807insCAGAGGGGAGGAGCAG | CA2584900872 | RYR1 | c.7836-74_7836-73insCAGAGGGGAGGAGCAG (n.7836-74_7836-73insCAGAGGGGAGGAGCAG) c.7833-74_7833-73insCAGAGGGGAGGAGCAG (n.7833-74_7833-73insCAGAGGGGAGGAGCAG) c.1288-74_1288-73insCAGAGGGGAGGAGCAG n.7919-74_7919-73insCAGAGGGGAGGAGCAG | gnomAD v4 |
19 | g.38502807_38502808insAGCAGG | CA995718271 | RYR1 | c.7836-73_7836-72insAGCAGG (n.7836-73_7836-72insAGCAGG) c.7833-73_7833-72insAGCAGG (n.7833-73_7833-72insAGCAGG) c.1288-73_1288-72insAGCAGG n.7919-73_7919-72insAGCAGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGAGCAGGGG | CA2584900874 | RYR1 | c.7836-71_7836-70insCAGGAGCAGGGG (n.7836-71_7836-70insCAGGAGCAGGGG) c.7833-71_7833-70insCAGGAGCAGGGG (n.7833-71_7833-70insCAGGAGCAGGGG) c.1288-71_1288-70insCAGGAGCAGGGG n.7919-71_7919-70insCAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGAGCAGGGG | CA633066305 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGGAGGAGCAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insTAGGGGGAGGAGCAGGGG | CA2584900865 | RYR1 | c.7836-71_7836-70insTAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insTAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insTAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insTAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insTAGGGGGAGGAGCAGGGG n.7919-71_7919-70insTAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGGAGGAGCAGGGG | CA995718263 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGGAGGGGGAGGAGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGAGAGGAGCAGGGG | CA2584900875 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGAGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGAGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGAGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGAGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGAGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGAGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGAGCAGGGG | CA633066306 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGAGCAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG | CA2584900858 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGTAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG | CA995718283 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | CA2584900860 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | CA995718268 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG | CA995718264 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG | CA2584900876 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG | CA2584900887 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | CA2560531417 | RYR1 | c.7836-71_7836-70insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGTAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | CA995718278 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | CA2584900873 | RYR1 | c.7836-71_7836-70insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGAGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | CA2553212418 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | |
19 | g.38502809_38502810insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG | CA2584900859 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG | CA2515676476 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG | CA2584900883 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG | CA2584900857 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG | CA995718265 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGAGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | CA2584900885 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | CA995718279 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG | CA2584900886 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | CA995718280 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG | CA2584900882 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG | CA2584900884 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | CA2584900881 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG | CA2584900880 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | CA2584900879 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | CA2584900878 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | CA995718281 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | CA2584900877 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502813_38502814insGGGAGGAGCAGGGGGAGG | CA995718259 | RYR1 | c.7836-67_7836-66insGGGAGGAGCAGGGGGAGG (n.7836-67_7836-66insGGGAGGAGCAGGGGGAGG) c.7833-67_7833-66insGGGAGGAGCAGGGGGAGG (n.7833-67_7833-66insGGGAGGAGCAGGGGGAGG) c.1288-67_1288-66insGGGAGGAGCAGGGGGAGG n.7919-67_7919-66insGGGAGGAGCAGGGGGAGG | gnomAD v3 gnomAD v4 |
19 | g.38502813_38502814insGGCAGGGGGAGGAGCAGGGGGAGG | CA2584900864 | RYR1 | c.7836-67_7836-66insGGCAGGGGGAGGAGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGAGCAGGGGGAGG) c.7833-67_7833-66insGGCAGGGGGAGGAGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGAGCAGGGGGAGG) c.1288-67_1288-66insGGCAGGGGGAGGAGCAGGGGGAGG n.7919-67_7919-66insGGCAGGGGGAGGAGCAGGGGGAGG | gnomAD v4 |
19 | g.38502813_38502814insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG | CA2584900863 | RYR1 | c.7836-67_7836-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG) c.7833-67_7833-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG) c.1288-67_1288-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG n.7919-67_7919-66insGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGAGCAGGGGGAGGAGCAGGGG | CA2584900862 | RYR1 | c.7836-59_7836-58insGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-59_7836-58insGAGGAGCAGGGGGAGGAGCAGGGG) c.7833-59_7833-58insGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-59_7833-58insGAGGAGCAGGGGGAGGAGCAGGGG) c.1288-59_1288-58insGAGGAGCAGGGGGAGGAGCAGGGG n.7919-59_7919-58insGAGGAGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | CA2535608033 | RYR1 | c.7836-59_7836-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-59_7836-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.7833-59_7833-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-59_7833-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.1288-59_1288-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG n.7919-59_7919-58insGAGGAGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502810_38502821dup | CA633066304 | RYR1 | c.7836-70_7836-59dup (n.7836-70_7836-59dup) c.7833-70_7833-59dup (n.7833-70_7833-59dup) c.1288-70_1288-59dup n.7919-70_7919-59dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502810_38502821del | CA633066307 | RYR1 | c.7836-70_7836-59del (n.7836-70_7836-59del) c.7833-70_7833-59del (n.7833-70_7833-59del) c.1288-70_1288-59del n.7919-70_7919-59del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG | CA2584900861 | RYR1 | c.7836-53_7836-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG (n.7836-53_7836-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG) c.7833-53_7833-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG (n.7833-53_7833-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG) c.1288-53_1288-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG n.7919-53_7919-52insGAGGAGCAGGGGGAGGAGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502803_38502804insGAGGGGGAGGGGGAGGGA | CA2814347247 | RYR1 | c.7836-77_7836-76insGAGGGGGAGGGGGAGGGA (n.7836-77_7836-76insGAGGGGGAGGGGGAGGGA) c.7833-77_7833-76insGAGGGGGAGGGGGAGGGA (n.7833-77_7833-76insGAGGGGGAGGGGGAGGGA) c.1288-77_1288-76insGAGGGGGAGGGGGAGGGA n.7919-77_7919-76insGAGGGGGAGGGGGAGGGA | |
19 | g.38502804del | CA995718296 | RYR1 | c.7836-76del (n.7836-76del) c.7833-76del (n.7833-76del) c.1288-76del n.7919-76del | gnomAD v3 gnomAD v4 |
19 | g.38502804C>A | CA995718292 | RYR1 | c.7836-76C>A (n.7836-76C>A) c.7833-76C>A (n.7833-76C>A) c.1288-76C>A n.7919-76C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502804C= | CA2335054662 | RYR1 | c.7836-76C= (n.7836-76C=) c.7833-76C= (n.7833-76C=) c.1288-76C= n.7919-76C= | |
19 | g.38502804C>G | CA308112915 | RYR1 | c.7836-76C>G (n.7836-76C>G) c.7833-76C>G (n.7833-76C>G) c.1288-76C>G n.7919-76C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502804C>T | CA882054200 | RYR1 | c.7836-76C>T (n.7836-76C>T) c.7833-76C>T (n.7833-76C>T) c.1288-76C>T n.7919-76C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502804_38502805del | CA633066308 | RYR1 | c.7836-76_7836-75del (n.7836-76_7836-75del) c.7833-76_7833-75del (n.7833-76_7833-75del) c.1288-76_1288-75del n.7919-76_7919-75del | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502804_38502810delinsCAGGGGG | CA2335054663 | RYR1 | c.7836-76_7836-70delinsCAGGGGG (n.7836-76_7836-70delinsCAGGGGG) c.7833-76_7833-70delinsCAGGGGG (n.7833-76_7833-70delinsCAGGGGG) c.1288-76_1288-70delinsCAGGGGG n.7919-76_7919-70delinsCAGGGGG | |
19 | g.38502804_38502816del | CA2584900888 | RYR1 | c.7836-76_7836-64del (n.7836-76_7836-64del) c.7833-76_7833-64del (n.7833-76_7833-64del) c.1288-76_1288-64del n.7919-76_7919-64del | gnomAD v4 |
19 | g.38502804_38502825delinsCAGGGGGAGGAGCAGGGGCAGG | CA2335054661 | RYR1 | c.7836-76_7836-55delinsCAGGGGGAGGAGCAGGGGCAGG (n.7836-76_7836-55delinsCAGGGGGAGGAGCAGGGGCAGG) c.7833-76_7833-55delinsCAGGGGGAGGAGCAGGGGCAGG (n.7833-76_7833-55delinsCAGGGGGAGGAGCAGGGGCAGG) c.1288-76_1288-55delinsCAGGGGGAGGAGCAGGGGCAGG n.7919-76_7919-55delinsCAGGGGGAGGAGCAGGGGCAGG | |
19 | g.38502805del | CA2814347263 | RYR1 | c.7836-75del (n.7836-75del) c.7833-75del (n.7833-75del) c.1288-75del n.7919-75del | |
19 | g.38502805A= | CA2335054665 | RYR1 | c.7836-75A= (n.7836-75A=) c.7833-75A= (n.7833-75A=) c.1288-75A= n.7919-75A= | |
19 | g.38502805A>C | CA2584900894 | RYR1 | c.7836-75A>C (n.7836-75A>C) c.7833-75A>C (n.7833-75A>C) c.1288-75A>C n.7919-75A>C | gnomAD v4 |
19 | g.38502805A>G | CA882054211 | RYR1 | c.7836-75A>G (n.7836-75A>G) c.7833-75A>G (n.7833-75A>G) c.1288-75A>G n.7919-75A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502805A>T | CA2576771129 | RYR1 | c.7836-75A>T (n.7836-75A>T) c.7833-75A>T (n.7833-75A>T) c.1288-75A>T n.7919-75A>T | gnomAD v3 gnomAD v4 |
19 | g.38502805_38502807delinsAGG | CA2335054664 | RYR1 | c.7836-75_7836-73delinsAGG (n.7836-75_7836-73delinsAGG) c.7833-75_7833-73delinsAGG (n.7833-75_7833-73delinsAGG) c.1288-75_1288-73delinsAGG n.7919-75_7919-73delinsAGG | |
19 | g.38502807_38502808insAGGAGGGGGAGGGGGAGGGGGAGG | CA2527248667 | RYR1 | c.7836-73_7836-72insAGGAGGGGGAGGGGGAGGGGGAGG (n.7836-73_7836-72insAGGAGGGGGAGGGGGAGGGGGAGG) c.7833-73_7833-72insAGGAGGGGGAGGGGGAGGGGGAGG (n.7833-73_7833-72insAGGAGGGGGAGGGGGAGGGGGAGG) c.1288-73_1288-72insAGGAGGGGGAGGGGGAGGGGGAGG n.7919-73_7919-72insAGGAGGGGGAGGGGGAGGGGGAGG | |
19 | g.38502809_38502810insTAGGGG | CA2576771128 | RYR1 | c.7836-71_7836-70insTAGGGG (n.7836-71_7836-70insTAGGGG) c.7833-71_7833-70insTAGGGG (n.7833-71_7833-70insTAGGGG) c.1288-71_1288-70insTAGGGG n.7919-71_7919-70insTAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGG | CA633066311 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGGAGGGG n.7919-71_7919-70insCAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGG | CA995718321 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGGAGGGG | CA995718311 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGAGGGGGAGGGG | CA2584900898 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGTAGGGG | CA2584900900 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGTAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGTAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGTAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGTAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGTAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGTAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGGAGGGGGAGGGG | CA995718309 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGG | CA633066310 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGGAGGGG | CA995718308 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGGAAGGGGGAGGGG | CA2584900889 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGGAAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGGAAGGGGGAGGGG n.7919-71_7919-70insCAGGGGGAGGGGGAAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | CA995718334 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2582145386 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA995718314 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG | CA995718336 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG | CA2550224393 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG n.7919-71_7919-70insCAGGGGGAGGGGGAGGGGGAGGGGTTAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900897 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | CA2584900906 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG | CA995718339 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584900909 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584900907 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG | CA2584900902 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | CA2584900904 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG | CA2584900890 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG n.7919-71_7919-70insCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900910 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG | CA2584900911 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900908 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG | CA2584900899 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900905 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | CA2584900901 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584900903 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502805_38502809dup | CA995718342 | RYR1 | c.7836-75_7836-71dup (n.7836-75_7836-71dup) c.7833-75_7833-71dup (n.7833-75_7833-71dup) c.1288-75_1288-71dup n.7919-75_7919-71dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGGGGGCAGGGGGAGGGGGAGGGGG | CA2584900893 | RYR1 | c.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG (n.7836-70_7836-69insGGGGGCAGGGGGAGGGGGAGGGGG) c.7833-70_7833-69insGGGGGCAGGGGGAGGGGGAGGGGG (n.7833-70_7833-69insGGGGGCAGGGGGAGGGGGAGGGGG) c.1288-70_1288-69insGGGGGCAGGGGGAGGGGGAGGGGG n.7919-70_7919-69insGGGGGCAGGGGGAGGGGGAGGGGG | gnomAD v4 |
19 | g.38502813_38502814insGGGAGGGGGAGG | CA882054212 | RYR1 | c.7836-67_7836-66insGGGAGGGGGAGG (n.7836-67_7836-66insGGGAGGGGGAGG) c.7833-67_7833-66insGGGAGGGGGAGG (n.7833-67_7833-66insGGGAGGGGGAGG) c.1288-67_1288-66insGGGAGGGGGAGG n.7919-67_7919-66insGGGAGGGGGAGG | dbSNP gnomAD v4 |
19 | g.38502813_38502814insGGGAGGAGGAGGGGGAGG | CA2584900891 | RYR1 | c.7836-67_7836-66insGGGAGGAGGAGGGGGAGG (n.7836-67_7836-66insGGGAGGAGGAGGGGGAGG) c.7833-67_7833-66insGGGAGGAGGAGGGGGAGG (n.7833-67_7833-66insGGGAGGAGGAGGGGGAGG) c.1288-67_1288-66insGGGAGGAGGAGGGGGAGG n.7919-67_7919-66insGGGAGGAGGAGGGGGAGG | gnomAD v4 |
19 | g.38502813_38502814insGGGAGGGGGAGGGGGAGG | CA2584900892 | RYR1 | c.7836-67_7836-66insGGGAGGGGGAGGGGGAGG (n.7836-67_7836-66insGGGAGGGGGAGGGGGAGG) c.7833-67_7833-66insGGGAGGGGGAGGGGGAGG (n.7833-67_7833-66insGGGAGGGGGAGGGGGAGG) c.1288-67_1288-66insGGGAGGGGGAGGGGGAGG n.7919-67_7919-66insGGGAGGGGGAGGGGGAGG | gnomAD v4 |
19 | g.38502813_38502814insGGCAGGGGGAGGGGGAGGGGGAGG | CA2814347267 | RYR1 | c.7836-67_7836-66insGGCAGGGGGAGGGGGAGGGGGAGG (n.7836-67_7836-66insGGCAGGGGGAGGGGGAGGGGGAGG) c.7833-67_7833-66insGGCAGGGGGAGGGGGAGGGGGAGG (n.7833-67_7833-66insGGCAGGGGGAGGGGGAGGGGGAGG) c.1288-67_1288-66insGGCAGGGGGAGGGGGAGGGGGAGG n.7919-67_7919-66insGGCAGGGGGAGGGGGAGGGGGAGG | |
19 | g.38502808_38502813dup | CA633066312 | RYR1 | c.7836-72_7836-67dup (n.7836-72_7836-67dup) c.7833-72_7833-67dup (n.7833-72_7833-67dup) c.1288-72_1288-67dup n.7919-72_7919-67dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502808_38502813del | CA633066309 | RYR1 | c.7836-72_7836-67del (n.7836-72_7836-67del) c.7833-72_7833-67del (n.7833-72_7833-67del) c.1288-72_1288-67del n.7919-72_7919-67del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502807_38502815del | CA2584900895 | RYR1 | c.7836-73_7836-65del (n.7836-73_7836-65del) c.7833-73_7833-65del (n.7833-73_7833-65del) c.1288-73_1288-65del n.7919-73_7919-65del | gnomAD v4 |
19 | g.38502805_38502819del | CA2584900896 | RYR1 | c.7836-75_7836-61del (n.7836-75_7836-61del) c.7833-75_7833-61del (n.7833-75_7833-61del) c.1288-75_1288-61del n.7919-75_7919-61del | gnomAD v4 |
19 | g.38502805_38502825del | CA995718305 | RYR1 | c.7836-75_7836-55del (n.7836-75_7836-55del) c.7833-75_7833-55del (n.7833-75_7833-55del) c.1288-75_1288-55del n.7919-75_7919-55del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502806G>A | CA882054214 | RYR1 | c.7836-74G>A (n.7836-74G>A) c.7833-74G>A (n.7833-74G>A) c.1288-74G>A n.7919-74G>A | dbSNP |
19 | g.38502806G>C | CA2576771130 | RYR1 | c.7836-74G>C (n.7836-74G>C) c.7833-74G>C (n.7833-74G>C) c.1288-74G>C n.7919-74G>C | gnomAD v4 |
19 | g.38502806G= | CA2335054667 | RYR1 | c.7836-74G= (n.7836-74G=) c.7833-74G= (n.7833-74G=) c.1288-74G= n.7919-74G= | |
19 | g.38502806G>T | CA2584900915 | RYR1 | c.7836-74G>T (n.7836-74G>T) c.7833-74G>T (n.7833-74G>T) c.1288-74G>T n.7919-74G>T | gnomAD v4 |
19 | g.38502809_38502810insCCGGGG | CA2814347276 | RYR1 | c.7836-71_7836-70insCCGGGG (n.7836-71_7836-70insCCGGGG) c.7833-71_7833-70insCCGGGG (n.7833-71_7833-70insCCGGGG) c.1288-71_1288-70insCCGGGG n.7919-71_7919-70insCCGGGG | |
19 | g.38502809_38502810insCGGGGG | CA995718356 | RYR1 | c.7836-71_7836-70insCGGGGG (n.7836-71_7836-70insCGGGGG) c.7833-71_7833-70insCGGGGG (n.7833-71_7833-70insCGGGGG) c.1288-71_1288-70insCGGGGG n.7919-71_7919-70insCGGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCCGGGG | CA2814347274 | RYR1 | c.7836-71_7836-70insCAGGGGCCGGGG (n.7836-71_7836-70insCAGGGGCCGGGG) c.7833-71_7833-70insCAGGGGCCGGGG (n.7833-71_7833-70insCAGGGGCCGGGG) c.1288-71_1288-70insCAGGGGCCGGGG n.7919-71_7919-70insCAGGGGCCGGGG | |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG | CA2584900914 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCCGGGG | gnomAD v4 |
19 | g.38502806_38502810del | CA995718362 | RYR1 | c.7836-74_7836-70del (n.7836-74_7836-70del) c.7833-74_7833-70del (n.7833-74_7833-70del) c.1288-74_1288-70del n.7919-74_7919-70del | gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGGGGGG | CA2584900918 | RYR1 | c.7836-70_7836-69insGGGGGG (n.7836-70_7836-69insGGGGGG) c.7833-70_7833-69insGGGGGG (n.7833-70_7833-69insGGGGGG) c.1288-70_1288-69insGGGGGG n.7919-70_7919-69insGGGGGG | gnomAD v4 |
19 | g.38502810del | CA995718360 | RYR1 | c.7836-70del (n.7836-70del) c.7833-70del (n.7833-70del) c.1288-70del n.7919-70del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810del | CA995718361 | RYR1 | c.7836-71_7836-70del (n.7836-71_7836-70del) c.7833-71_7833-70del (n.7833-71_7833-70del) c.1288-71_1288-70del n.7919-71_7919-70del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502808_38502810del | CA2584900917 | RYR1 | c.7836-72_7836-70del (n.7836-72_7836-70del) c.7833-72_7833-70del (n.7833-72_7833-70del) c.1288-72_1288-70del n.7919-72_7919-70del | gnomAD v4 |
19 | g.38502807_38502810del | CA2584900916 | RYR1 | c.7836-73_7836-70del (n.7836-73_7836-70del) c.7833-73_7833-70del (n.7833-73_7833-70del) c.1288-73_1288-70del n.7919-73_7919-70del | gnomAD v4 |
19 | g.38502806_38502814delinsGGGGGAGGA | CA2335054666 | RYR1 | c.7836-74_7836-66delinsGGGGGAGGA (n.7836-74_7836-66delinsGGGGGAGGA) c.7833-74_7833-66delinsGGGGGAGGA (n.7833-74_7833-66delinsGGGGGAGGA) c.1288-74_1288-66delinsGGGGGAGGA n.7919-74_7919-66delinsGGGGGAGGA | |
19 | g.38502809_38502827del | CA2584900912 | RYR1 | c.7836-71_7836-53del (n.7836-71_7836-53del) c.7833-71_7833-53del (n.7833-71_7833-53del) c.1288-71_1288-53del n.7919-71_7919-53del | gnomAD v4 |
19 | g.38502807_38502827del | CA995718364 | RYR1 | c.7836-73_7836-53del (n.7836-73_7836-53del) c.7833-73_7833-53del (n.7833-73_7833-53del) c.1288-73_1288-53del n.7919-73_7919-53del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502806_38502831del | CA2584900913 | RYR1 | c.7836-74_7836-49del (n.7836-74_7836-49del) c.7833-74_7833-49del (n.7833-74_7833-49del) c.1288-74_1288-49del n.7919-74_7919-49del | gnomAD v4 |
19 | g.38502806_38502807insCAGA | CA995718381 | RYR1 | c.7836-74_7836-73insCAGA (n.7836-74_7836-73insCAGA) c.7833-74_7833-73insCAGA (n.7833-74_7833-73insCAGA) c.1288-74_1288-73insCAGA n.7919-74_7919-73insCAGA | gnomAD v3 gnomAD v4 |
19 | g.38502807G>A | CA308112919 | RYR1 | c.7836-73G>A (n.7836-73G>A) c.7833-73G>A (n.7833-73G>A) c.1288-73G>A n.7919-73G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.38502807G>C | CA995718372 | RYR1 | c.7836-73G>C (n.7836-73G>C) c.7833-73G>C (n.7833-73G>C) c.1288-73G>C n.7919-73G>C | gnomAD v3 gnomAD v4 |
19 | g.38502807G= | CA2335054668 | RYR1 | c.7836-73G= (n.7836-73G=) c.7833-73G= (n.7833-73G=) c.1288-73G= n.7919-73G= | |
19 | g.38502807G>T | CA882054221 | RYR1 | c.7836-73G>T (n.7836-73G>T) c.7833-73G>T (n.7833-73G>T) c.1288-73G>T n.7919-73G>T | dbSNP gnomAD v4 |
19 | g.38502809_38502810insCAAGGG | CA2584900921 | RYR1 | c.7836-71_7836-70insCAAGGG (n.7836-71_7836-70insCAAGGG) c.7833-71_7833-70insCAAGGG (n.7833-71_7833-70insCAAGGG) c.1288-71_1288-70insCAAGGG n.7919-71_7919-70insCAAGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGCAGAGGG | CA2584900919 | RYR1 | c.7836-71_7836-70insCAGCAGAGGG (n.7836-71_7836-70insCAGCAGAGGG) c.7833-71_7833-70insCAGCAGAGGG (n.7833-71_7833-70insCAGCAGAGGG) c.1288-71_1288-70insCAGCAGAGGG n.7919-71_7919-70insCAGCAGAGGG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAAGGG | CA995718395 | RYR1 | c.7836-71_7836-70insCAGGGGCAAGGG (n.7836-71_7836-70insCAGGGGCAAGGG) c.7833-71_7833-70insCAGGGGCAAGGG (n.7833-71_7833-70insCAGGGGCAAGGG) c.1288-71_1288-70insCAGGGGCAAGGG n.7919-71_7919-70insCAGGGGCAAGGG | gnomAD v3 gnomAD v4 |
19 | g.38502808_38502815del | CA633066314 | RYR1 | c.7836-72_7836-65del (n.7836-72_7836-65del) c.7833-72_7833-65del (n.7833-72_7833-65del) c.1288-72_1288-65del n.7919-72_7919-65del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502807_38502816del | CA633066313 | RYR1 | c.7836-73_7836-64del (n.7836-73_7836-64del) c.7833-73_7833-64del (n.7833-73_7833-64del) c.1288-73_1288-64del n.7919-73_7919-64del | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502811_38502827del | CA2584900920 | RYR1 | c.7836-69_7836-53del (n.7836-69_7836-53del) c.7833-69_7833-53del (n.7833-69_7833-53del) c.1288-69_1288-53del n.7919-69_7919-53del | gnomAD v4 |
19 | g.38502807_38502828del | CA2814347278 | RYR1 | c.7836-73_7836-52del (n.7836-73_7836-52del) c.7833-73_7833-52del (n.7833-73_7833-52del) c.1288-73_1288-52del n.7919-73_7919-52del | |
19 | g.38502807_38502831delinsGGGGAGGAGCAGGGGCAGGGGCAGC | CA2335054669 | RYR1 | c.7836-73_7836-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC (n.7836-73_7836-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC) c.7833-73_7833-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC (n.7833-73_7833-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC) c.1288-73_1288-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC n.7919-73_7919-49delinsGGGGAGGAGCAGGGGCAGGGGCAGC | |
19 | g.38502807_38502808insA | CA2584900925 | RYR1 | c.7836-73_7836-72insA (n.7836-73_7836-72insA) c.7833-73_7833-72insA (n.7833-73_7833-72insA) c.1288-73_1288-72insA n.7919-73_7919-72insA | gnomAD v4 |
19 | g.38502807_38502808insAGCA | CA2584900924 | RYR1 | c.7836-73_7836-72insAGCA (n.7836-73_7836-72insAGCA) c.7833-73_7833-72insAGCA (n.7833-73_7833-72insAGCA) c.1288-73_1288-72insAGCA n.7919-73_7919-72insAGCA | gnomAD v4 |
19 | g.38502808G>A | CA308112935 | RYR1 | c.7836-72G>A (n.7836-72G>A) c.7833-72G>A (n.7833-72G>A) c.1288-72G>A n.7919-72G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502808G>C | CA2335054672 | RYR1 | c.7836-72G>C (n.7836-72G>C) c.7833-72G>C (n.7833-72G>C) c.1288-72G>C n.7919-72G>C | dbSNP |
19 | g.38502808G= | CA2335054671 | RYR1 | c.7836-72G= (n.7836-72G=) c.7833-72G= (n.7833-72G=) c.1288-72G= n.7919-72G= | |
19 | g.38502808G>T | CA995718409 | RYR1 | c.7836-72G>T (n.7836-72G>T) c.7833-72G>T (n.7833-72G>T) c.1288-72G>T n.7919-72G>T | gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGAGG | CA995718406 | RYR1 | c.7836-71_7836-70insCAGGGGCAGAGG (n.7836-71_7836-70insCAGGGGCAGAGG) c.7833-71_7833-70insCAGGGGCAGAGG (n.7833-71_7833-70insCAGGGGCAGAGG) c.1288-71_1288-70insCAGGGGCAGAGG n.7919-71_7919-70insCAGGGGCAGAGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502808_38502814delinsGGGAGGA | CA2335054674 | RYR1 | c.7836-72_7836-66delinsGGGAGGA (n.7836-72_7836-66delinsGGGAGGA) c.7833-72_7833-66delinsGGGAGGA (n.7833-72_7833-66delinsGGGAGGA) c.1288-72_1288-66delinsGGGAGGA n.7919-72_7919-66delinsGGGAGGA | |
19 | g.38502809_38502815del | CA2584900922 | RYR1 | c.7836-71_7836-65del (n.7836-71_7836-65del) c.7833-71_7833-65del (n.7833-71_7833-65del) c.1288-71_1288-65del n.7919-71_7919-65del | gnomAD v4 |
19 | g.38502808_38502816delinsGGGAGGAGC | CA2335054673 | RYR1 | c.7836-72_7836-64delinsGGGAGGAGC (n.7836-72_7836-64delinsGGGAGGAGC) c.7833-72_7833-64delinsGGGAGGAGC (n.7833-72_7833-64delinsGGGAGGAGC) c.1288-72_1288-64delinsGGGAGGAGC n.7919-72_7919-64delinsGGGAGGAGC | |
19 | g.38502818_38502819insTGGGAGGAGCAG | CA2584900923 | RYR1 | c.7836-62_7836-61insTGGGAGGAGCAG (n.7836-62_7836-61insTGGGAGGAGCAG) c.7833-62_7833-61insTGGGAGGAGCAG (n.7833-62_7833-61insTGGGAGGAGCAG) c.1288-62_1288-61insTGGGAGGAGCAG n.7919-62_7919-61insTGGGAGGAGCAG | gnomAD v4 |
19 | g.38502808_38502829delinsGGGAGGAGCAGGGGCAGGGGCA | CA2335054670 | RYR1 | c.7836-72_7836-51delinsGGGAGGAGCAGGGGCAGGGGCA (n.7836-72_7836-51delinsGGGAGGAGCAGGGGCAGGGGCA) c.7833-72_7833-51delinsGGGAGGAGCAGGGGCAGGGGCA (n.7833-72_7833-51delinsGGGAGGAGCAGGGGCAGGGGCA) c.1288-72_1288-51delinsGGGAGGAGCAGGGGCAGGGGCA n.7919-72_7919-51delinsGGGAGGAGCAGGGGCAGGGGCA | |
19 | g.38502808_38502831del | CA920105621 | RYR1 | c.7836-72_7836-49del (n.7836-72_7836-49del) c.7833-72_7833-49del (n.7833-72_7833-49del) c.1288-72_1288-49del n.7919-72_7919-49del | dbSNP |
19 | g.38502808_38502809insCA | CA2584900935 | RYR1 | c.7836-72_7836-71insCA (n.7836-72_7836-71insCA) c.7833-72_7833-71insCA (n.7833-72_7833-71insCA) c.1288-72_1288-71insCA n.7919-72_7919-71insCA | gnomAD v4 |
19 | g.38502809G>A | CA308112956 | RYR1 | c.7836-71G>A (n.7836-71G>A) c.7833-71G>A (n.7833-71G>A) c.1288-71G>A n.7919-71G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809G>C | CA633066315 | RYR1 | c.7836-71G>C (n.7836-71G>C) c.7833-71G>C (n.7833-71G>C) c.1288-71G>C n.7919-71G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502809G= | CA2335054676 | RYR1 | c.7836-71G= (n.7836-71G=) c.7833-71G= (n.7833-71G=) c.1288-71G= n.7919-71G= | |
19 | g.38502809G>T | CA2584900927 | RYR1 | c.7836-71G>T (n.7836-71G>T) c.7833-71G>T (n.7833-71G>T) c.1288-71G>T n.7919-71G>T | gnomAD v4 |
19 | g.38502809_38502810insCAG | CA2584900934 | RYR1 | c.7836-71_7836-70insCAG (n.7836-71_7836-70insCAG) c.7833-71_7833-70insCAG (n.7833-71_7833-70insCAG) c.1288-71_1288-70insCAG n.7919-71_7919-70insCAG | gnomAD v4 |
19 | g.38502809_38502810insCAGGAG | CA2335054680 | RYR1 | c.7836-71_7836-70insCAGGAG (n.7836-71_7836-70insCAGGAG) c.7833-71_7833-70insCAGGAG (n.7833-71_7833-70insCAGGAG) c.1288-71_1288-70insCAGGAG n.7919-71_7919-70insCAGGAG | dbSNP |
19 | g.38502809_38502810insCAGGGGCAG | CA2558193582 | RYR1 | c.7836-71_7836-70insCAGGGGCAG (n.7836-71_7836-70insCAGGGGCAG) c.7833-71_7833-70insCAGGGGCAG (n.7833-71_7833-70insCAGGGGCAG) c.1288-71_1288-70insCAGGGGCAG n.7919-71_7919-70insCAGGGGCAG | gnomAD v4 |
19 | g.38502809_38502810insCAGGAGCAGGAG | CA2335054679 | RYR1 | c.7836-71_7836-70insCAGGAGCAGGAG (n.7836-71_7836-70insCAGGAGCAGGAG) c.7833-71_7833-70insCAGGAGCAGGAG (n.7833-71_7833-70insCAGGAGCAGGAG) c.1288-71_1288-70insCAGGAGCAGGAG n.7919-71_7919-70insCAGGAGCAGGAG | dbSNP |
19 | g.38502809_38502810insCAGGGGCAGGAG | CA2335054678 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGAG (n.7836-71_7836-70insCAGGGGCAGGAG) c.7833-71_7833-70insCAGGGGCAGGAG (n.7833-71_7833-70insCAGGGGCAGGAG) c.1288-71_1288-70insCAGGGGCAGGAG n.7919-71_7919-70insCAGGGGCAGGAG | dbSNP |
19 | g.38502809_38502810insCAGGGGGAGGAG | CA2584900930 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGAG (n.7836-71_7836-70insCAGGGGGAGGAG) c.7833-71_7833-70insCAGGGGGAGGAG (n.7833-71_7833-70insCAGGGGGAGGAG) c.1288-71_1288-70insCAGGGGGAGGAG n.7919-71_7919-70insCAGGGGGAGGAG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAG | CA2584900926 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAG (n.7836-71_7836-70insCAGGGGCAGGGGGAG) c.7833-71_7833-70insCAGGGGCAGGGGGAG (n.7833-71_7833-70insCAGGGGCAGGGGGAG) c.1288-71_1288-70insCAGGGGCAGGGGGAG n.7919-71_7919-70insCAGGGGCAGGGGGAG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGAG | CA995718412 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGAG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGAG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGAG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGAG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGAG n.7919-71_7919-70insCAGGGGCAGGGGCAGGAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGGAGGAG | CA2584900931 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGGAGGAG (n.7836-71_7836-70insCAGGGGCAGGGGGAGGAG) c.7833-71_7833-70insCAGGGGCAGGGGGAGGAG (n.7833-71_7833-70insCAGGGGCAGGGGGAGGAG) c.1288-71_1288-70insCAGGGGCAGGGGGAGGAG n.7919-71_7919-70insCAGGGGCAGGGGGAGGAG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGAG | CA2584900933 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGAG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGAG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGAG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGAG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGAG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGAG | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGGAGGAG | CA2584900932 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAG (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGGAGGAG) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAG (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGGAGGAG) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGGAGGAG n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGGAGGAG | gnomAD v4 |
19 | g.38502809_38502814delinsGGAGGA | CA2335054677 | RYR1 | c.7836-71_7836-66delinsGGAGGA (n.7836-71_7836-66delinsGGAGGA) c.7833-71_7833-66delinsGGAGGA (n.7833-71_7833-66delinsGGAGGA) c.1288-71_1288-66delinsGGAGGA n.7919-71_7919-66delinsGGAGGA | |
19 | g.38502813_38502815dup | CA2335054682 | RYR1 | c.7836-67_7836-65dup (n.7836-67_7836-65dup) c.7833-67_7833-65dup (n.7833-67_7833-65dup) c.1288-67_1288-65dup n.7919-67_7919-65dup | dbSNP gnomAD v4 |
19 | g.38502810_38502815dup | CA2584900929 | RYR1 | c.7836-70_7836-65dup (n.7836-70_7836-65dup) c.7833-70_7833-65dup (n.7833-70_7833-65dup) c.1288-70_1288-65dup n.7919-70_7919-65dup | gnomAD v4 |
19 | g.38502813_38502815del | CA2335054681 | RYR1 | c.7836-67_7836-65del (n.7836-67_7836-65del) c.7833-67_7833-65del (n.7833-67_7833-65del) c.1288-67_1288-65del n.7919-67_7919-65del | dbSNP gnomAD v4 |
19 | g.38502810_38502815del | CA308112961 | RYR1 | c.7836-70_7836-65del (n.7836-70_7836-65del) c.7833-70_7833-65del (n.7833-70_7833-65del) c.1288-70_1288-65del n.7919-70_7919-65del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502809_38502816del | CA308112957 | RYR1 | c.7836-71_7836-64del (n.7836-71_7836-64del) c.7833-71_7833-64del (n.7833-71_7833-64del) c.1288-71_1288-64del n.7919-71_7919-64del | dbSNP |
19 | g.38502809_38502816delinsGGAGGAGC | CA2335054675 | RYR1 | c.7836-71_7836-64delinsGGAGGAGC (n.7836-71_7836-64delinsGGAGGAGC) c.7833-71_7833-64delinsGGAGGAGC (n.7833-71_7833-64delinsGGAGGAGC) c.1288-71_1288-64delinsGGAGGAGC n.7919-71_7919-64delinsGGAGGAGC | |
19 | g.38502819_38502820insAGGAGGAGCAGG | CA2584900928 | RYR1 | c.7836-61_7836-60insAGGAGGAGCAGG (n.7836-61_7836-60insAGGAGGAGCAGG) c.7833-61_7833-60insAGGAGGAGCAGG (n.7833-61_7833-60insAGGAGGAGCAGG) c.1288-61_1288-60insAGGAGGAGCAGG n.7919-61_7919-60insAGGAGGAGCAGG | gnomAD v4 |
19 | g.38502810_38502830del | CA995718415 | RYR1 | c.7836-70_7836-50del (n.7836-70_7836-50del) c.7833-70_7833-50del (n.7833-70_7833-50del) c.1288-70_1288-50del n.7919-70_7919-50del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCA | CA633066316 | RYR1 | c.7836-71_7836-70insCA (n.7836-71_7836-70insCA) c.7833-71_7833-70insCA (n.7833-71_7833-70insCA) c.1288-71_1288-70insCA n.7919-71_7919-70insCA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGA | CA2335054687 | RYR1 | c.7836-71_7836-70insCAGGGA (n.7836-71_7836-70insCAGGGA) c.7833-71_7833-70insCAGGGA (n.7833-71_7833-70insCAGGGA) c.1288-71_1288-70insCAGGGA n.7919-71_7919-70insCAGGGA | dbSNP gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGA | CA995718441 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGA (n.7836-71_7836-70insCAGGGGCAGGGA) c.7833-71_7833-70insCAGGGGCAGGGA (n.7833-71_7833-70insCAGGGGCAGGGA) c.1288-71_1288-70insCAGGGGCAGGGA n.7919-71_7919-70insCAGGGGCAGGGA | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGGAGGAGCAGGGA | CA2584900936 | RYR1 | c.7836-71_7836-70insCAGGGGGAGGAGCAGGGA (n.7836-71_7836-70insCAGGGGGAGGAGCAGGGA) c.7833-71_7833-70insCAGGGGGAGGAGCAGGGA (n.7833-71_7833-70insCAGGGGGAGGAGCAGGGA) c.1288-71_1288-70insCAGGGGGAGGAGCAGGGA n.7919-71_7919-70insCAGGGGGAGGAGCAGGGA | gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGA | CA995718426 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGA (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGA) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGA (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGA) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGA n.7919-71_7919-70insCAGGGGCAGGGGCAGGGA | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGA | CA995718436 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGA (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGA) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGA (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGA) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGA n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGA | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502809_38502810insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA | CA633066317 | RYR1 | c.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA (n.7836-71_7836-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA) c.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA (n.7833-71_7833-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA) c.1288-71_1288-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA n.7919-71_7919-70insCAGGGGCAGGGGCAGGGGCAGGGGCAGGGA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502810G>A | CA882054240 | RYR1 | c.7836-70G>A (n.7836-70G>A) c.7833-70G>A (n.7833-70G>A) c.1288-70G>A n.7919-70G>A | dbSNP gnomAD v4 |
19 | g.38502810G>C | CA024863 | RYR1 | c.7836-70G>C (n.7836-70G>C) c.7833-70G>C (n.7833-70G>C) c.1288-70G>C n.7919-70G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502810G= | CA2335054684 | RYR1 | c.7836-70G= (n.7836-70G=) c.7833-70G= (n.7833-70G=) c.1288-70G= n.7919-70G= | |
19 | g.38502810G>T | CA882054241 | RYR1 | c.7836-70G>T (n.7836-70G>T) c.7833-70G>T (n.7833-70G>T) c.1288-70G>T n.7919-70G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502811_38502815del | CA920105622 | RYR1 | c.7836-69_7836-65del (n.7836-69_7836-65del) c.7833-69_7833-65del (n.7833-69_7833-65del) c.1288-69_1288-65del n.7919-69_7919-65del | dbSNP gnomAD v4 |
19 | g.38502810_38502816del | CA2335054688 | RYR1 | c.7836-70_7836-64del (n.7836-70_7836-64del) c.7833-70_7833-64del (n.7833-70_7833-64del) c.1288-70_1288-64del n.7919-70_7919-64del | dbSNP gnomAD v4 |
19 | g.38502810_38502816delinsGAGGAGC | CA2335054686 | RYR1 | c.7836-70_7836-64delinsGAGGAGC (n.7836-70_7836-64delinsGAGGAGC) c.7833-70_7833-64delinsGAGGAGC (n.7833-70_7833-64delinsGAGGAGC) c.1288-70_1288-64delinsGAGGAGC n.7919-70_7919-64delinsGAGGAGC | |
19 | g.38502810_38502822delinsGAGGAGCAGGGGC | CA2335054685 | RYR1 | c.7836-70_7836-58delinsGAGGAGCAGGGGC (n.7836-70_7836-58delinsGAGGAGCAGGGGC) c.7833-70_7833-58delinsGAGGAGCAGGGGC (n.7833-70_7833-58delinsGAGGAGCAGGGGC) c.1288-70_1288-58delinsGAGGAGCAGGGGC n.7919-70_7919-58delinsGAGGAGCAGGGGC | |
19 | g.38502810_38502828delinsGAGGAGCAGGGGCAGGGGC | CA2335054683 | RYR1 | c.7836-70_7836-52delinsGAGGAGCAGGGGCAGGGGC (n.7836-70_7836-52delinsGAGGAGCAGGGGCAGGGGC) c.7833-70_7833-52delinsGAGGAGCAGGGGCAGGGGC (n.7833-70_7833-52delinsGAGGAGCAGGGGCAGGGGC) c.1288-70_1288-52delinsGAGGAGCAGGGGCAGGGGC n.7919-70_7919-52delinsGAGGAGCAGGGGCAGGGGC | |
19 | g.38502810_38502811insC | CA2576771133 | RYR1 | c.7836-70_7836-69insC (n.7836-70_7836-69insC) c.7833-70_7833-69insC (n.7833-70_7833-69insC) c.1288-70_1288-69insC n.7919-70_7919-69insC | |
19 | g.38502810_38502811insGC | CA2584900948 | RYR1 | c.7836-70_7836-69insGC (n.7836-70_7836-69insGC) c.7833-70_7833-69insGC (n.7833-70_7833-69insGC) c.1288-70_1288-69insGC n.7919-70_7919-69insGC | gnomAD v4 |
19 | g.38502810_38502811insGAGC | CA995718518 | RYR1 | c.7836-70_7836-69insGAGC (n.7836-70_7836-69insGAGC) c.7833-70_7833-69insGAGC (n.7833-70_7833-69insGAGC) c.1288-70_1288-69insGAGC n.7919-70_7919-69insGAGC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGGGA | CA2584900950 | RYR1 | c.7836-70_7836-69insGGGA (n.7836-70_7836-69insGGGA) c.7833-70_7833-69insGGGA (n.7833-70_7833-69insGGGA) c.1288-70_1288-69insGGGA n.7919-70_7919-69insGGGA | gnomAD v4 |
19 | g.38502810_38502811insGGGC | CA633066319 | RYR1 | c.7836-70_7836-69insGGGC (n.7836-70_7836-69insGGGC) c.7833-70_7833-69insGGGC (n.7833-70_7833-69insGGGC) c.1288-70_1288-69insGGGC n.7919-70_7919-69insGGGC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGAGCAGGAGC | CA995718507 | RYR1 | c.7836-70_7836-69insGAGCAGGAGC (n.7836-70_7836-69insGAGCAGGAGC) c.7833-70_7833-69insGAGCAGGAGC (n.7833-70_7833-69insGAGCAGGAGC) c.1288-70_1288-69insGAGCAGGAGC n.7919-70_7919-69insGAGCAGGAGC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGAGCAGGGGC | CA2584900947 | RYR1 | c.7836-70_7836-69insGAGCAGGGGC (n.7836-70_7836-69insGAGCAGGGGC) c.7833-70_7833-69insGAGCAGGGGC (n.7833-70_7833-69insGAGCAGGGGC) c.1288-70_1288-69insGAGCAGGGGC n.7919-70_7919-69insGAGCAGGGGC | gnomAD v4 |
19 | g.38502810_38502811insGGACAGGGGC | CA2584900949 | RYR1 | c.7836-70_7836-69insGGACAGGGGC (n.7836-70_7836-69insGGACAGGGGC) c.7833-70_7833-69insGGACAGGGGC (n.7833-70_7833-69insGGACAGGGGC) c.1288-70_1288-69insGGACAGGGGC n.7919-70_7919-69insGGACAGGGGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGAGC | CA995718502 | RYR1 | c.7836-70_7836-69insGGGCAGGAGC (n.7836-70_7836-69insGGGCAGGAGC) c.7833-70_7833-69insGGGCAGGAGC (n.7833-70_7833-69insGGGCAGGAGC) c.1288-70_1288-69insGGGCAGGAGC n.7919-70_7919-69insGGGCAGGAGC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGC | CA633066320 | RYR1 | c.7836-70_7836-69insGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGC) c.7833-70_7833-69insGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGC) c.1288-70_1288-69insGGGCAGGGGC n.7919-70_7919-69insGGGCAGGGGC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGGA | CA2584900943 | RYR1 | c.7836-70_7836-69insGGGCAGGGGGA (n.7836-70_7836-69insGGGCAGGGGGA) c.7833-70_7833-69insGGGCAGGGGGA (n.7833-70_7833-69insGGGCAGGGGGA) c.1288-70_1288-69insGGGCAGGGGGA n.7919-70_7919-69insGGGCAGGGGGA | gnomAD v4 |
19 | g.38502810_38502811insGAGCAGGAGCAGGAGC | CA2584900946 | RYR1 | c.7836-70_7836-69insGAGCAGGAGCAGGAGC (n.7836-70_7836-69insGAGCAGGAGCAGGAGC) c.7833-70_7833-69insGAGCAGGAGCAGGAGC (n.7833-70_7833-69insGAGCAGGAGCAGGAGC) c.1288-70_1288-69insGAGCAGGAGCAGGAGC n.7919-70_7919-69insGAGCAGGAGCAGGAGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGAGCAGGGGC | CA2584900955 | RYR1 | c.7836-70_7836-69insGGGCAGGAGCAGGGGC (n.7836-70_7836-69insGGGCAGGAGCAGGGGC) c.7833-70_7833-69insGGGCAGGAGCAGGGGC (n.7833-70_7833-69insGGGCAGGAGCAGGGGC) c.1288-70_1288-69insGGGCAGGAGCAGGGGC n.7919-70_7919-69insGGGCAGGAGCAGGGGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGAGC | CA2584900954 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGAGC (n.7836-70_7836-69insGGGCAGGGGCAGGAGC) c.7833-70_7833-69insGGGCAGGGGCAGGAGC (n.7833-70_7833-69insGGGCAGGGGCAGGAGC) c.1288-70_1288-69insGGGCAGGGGCAGGAGC n.7919-70_7919-69insGGGCAGGGGCAGGAGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGC | CA633066321 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGC n.7919-70_7919-69insGGGCAGGGGCAGGGGC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGA | CA2584900951 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGA (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGA) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGA (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGA) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGA n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGA | gnomAD v4 |
19 | g.38502810_38502811insGGGGAGGAGCAGGGGCAGGGGC | CA2584900945 | RYR1 | c.7836-70_7836-69insGGGGAGGAGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGGAGGAGCAGGGGCAGGGGC) c.7833-70_7833-69insGGGGAGGAGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGGAGGAGCAGGGGCAGGGGC) c.1288-70_1288-69insGGGGAGGAGCAGGGGCAGGGGC n.7919-70_7919-69insGGGGAGGAGCAGGGGCAGGGGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGAGCAGGGGCAGGGGC | CA995718501 | RYR1 | c.7836-70_7836-69insGGGCAGGAGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGAGCAGGGGCAGGGGC) c.7833-70_7833-69insGGGCAGGAGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGAGCAGGGGCAGGGGC) c.1288-70_1288-69insGGGCAGGAGCAGGGGCAGGGGC n.7919-70_7919-69insGGGCAGGAGCAGGGGCAGGGGC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGAGC | CA2584900953 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGAGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGAGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGAGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGAGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGAGC n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGAGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGC | CA920105624 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGC n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGGAGGAGC | CA2584900942 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGGAGGAGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGGAGGAGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGGAGGAGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGGAGGAGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGGAGGAGC n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGGAGGAGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGC | CA995718497 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGC n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGC | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGAGC | CA2584900937 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGAGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGAGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGAGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGAGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGAGC n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGAGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | CA995718495 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC | CA2584900938 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGAGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC | CA2584900944 | RYR1 | c.7836-70_7836-69insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC) c.7833-70_7833-69insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC) c.1288-70_1288-69insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC n.7919-70_7919-69insGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC | CA2584900952 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGCGCAGGGGCAGGGGCAGGGGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | CA995718494 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | gnomAD v3 gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | CA2584900939 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | CA2584900940 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | gnomAD v4 |
19 | g.38502810_38502811insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | CA2584900941 | RYR1 | c.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7836-70_7836-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC (n.7833-70_7833-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC) c.1288-70_1288-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC n.7919-70_7919-69insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC | gnomAD v4 |
19 | g.38502811del | CA2582145387 | RYR1 | c.7836-69del (n.7836-69del) c.7833-69del (n.7833-69del) c.1288-69del n.7919-69del | gnomAD v4 |
19 | g.38502811A= | CA2335054690 | RYR1 | c.7836-69A= (n.7836-69A=) c.7833-69A= (n.7833-69A=) c.1288-69A= n.7919-69A= | |
19 | g.38502811A>C | CA2517146258 | RYR1 | c.7836-69A>C (n.7836-69A>C) c.7833-69A>C (n.7833-69A>C) c.1288-69A>C n.7919-69A>C | gnomAD v4 |
19 | g.38502811A>G | CA995718489 | RYR1 | c.7836-69A>G (n.7836-69A>G) c.7833-69A>G (n.7833-69A>G) c.1288-69A>G n.7919-69A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502811dup | CA2576771131 | RYR1 | c.7836-69dup (n.7836-69dup) c.7833-69dup (n.7833-69dup) c.1288-69dup n.7919-69dup | gnomAD v4 |
19 | g.38502812_38502813insCAG | CA2576771132 | RYR1 | c.7836-68_7836-67insCAG (n.7836-68_7836-67insCAG) c.7833-68_7833-67insCAG (n.7833-68_7833-67insCAG) c.1288-68_1288-67insCAG n.7919-68_7919-67insCAG | gnomAD v4 |
19 | g.38502813_38502814insGGCAGGGGGAGGAGCAGG | CA2335054691 | RYR1 | c.7836-67_7836-66insGGCAGGGGGAGGAGCAGG (n.7836-67_7836-66insGGCAGGGGGAGGAGCAGG) c.7833-67_7833-66insGGCAGGGGGAGGAGCAGG (n.7833-67_7833-66insGGCAGGGGGAGGAGCAGG) c.1288-67_1288-66insGGCAGGGGGAGGAGCAGG n.7919-67_7919-66insGGCAGGGGGAGGAGCAGG | dbSNP |
19 | g.38502811_38502815delinsAGGAG | CA2335054689 | RYR1 | c.7836-69_7836-65delinsAGGAG (n.7836-69_7836-65delinsAGGAG) c.7833-69_7833-65delinsAGGAG (n.7833-69_7833-65delinsAGGAG) c.1288-69_1288-65delinsAGGAG n.7919-69_7919-65delinsAGGAG | |
19 | g.38502814_38502819del | CA633066318 | RYR1 | c.7836-66_7836-61del (n.7836-66_7836-61del) c.7833-66_7833-61del (n.7833-66_7833-61del) c.1288-66_1288-61del n.7919-66_7919-61del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502814_38502825del | CA882054252 | RYR1 | c.7836-66_7836-55del (n.7836-66_7836-55del) c.7833-66_7833-55del (n.7833-66_7833-55del) c.1288-66_1288-55del n.7919-66_7919-55del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502813_38502830del | CA995718486 | RYR1 | c.7836-67_7836-50del (n.7836-67_7836-50del) c.7833-67_7833-50del (n.7833-67_7833-50del) c.1288-67_1288-50del n.7919-67_7919-50del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502811_38502812insAGGG | CA2554611773 | RYR1 | c.7836-69_7836-68insAGGG (n.7836-69_7836-68insAGGG) c.7833-69_7833-68insAGGG (n.7833-69_7833-68insAGGG) c.1288-69_1288-68insAGGG n.7919-69_7919-68insAGGG | gnomAD v4 |
19 | g.38502812G>A | CA2576771134 | RYR1 | c.7836-68G>A (n.7836-68G>A) c.7833-68G>A (n.7833-68G>A) c.1288-68G>A n.7919-68G>A | gnomAD v4 |
19 | g.38502813_38502814insGGG | CA633066322 | RYR1 | c.7836-67_7836-66insGGG (n.7836-67_7836-66insGGG) c.7833-67_7833-66insGGG (n.7833-67_7833-66insGGG) c.1288-67_1288-66insGGG n.7919-67_7919-66insGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502813_38502814insGGGCGGGGG | CA2584900957 | RYR1 | c.7836-67_7836-66insGGGCGGGGG (n.7836-67_7836-66insGGGCGGGGG) c.7833-67_7833-66insGGGCGGGGG (n.7833-67_7833-66insGGGCGGGGG) c.1288-67_1288-66insGGGCGGGGG n.7919-67_7919-66insGGGCGGGGG | gnomAD v4 |
19 | g.38502813_38502814insGGGGGGGGG | CA995718530 | RYR1 | c.7836-67_7836-66insGGGGGGGGG (n.7836-67_7836-66insGGGGGGGGG) c.7833-67_7833-66insGGGGGGGGG (n.7833-67_7833-66insGGGGGGGGG) c.1288-67_1288-66insGGGGGGGGG n.7919-67_7919-66insGGGGGGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502813_38502814insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG | CA2814347311 | RYR1 | c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG (n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG) c.7833-67_7833-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG (n.7833-67_7833-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG) c.1288-67_1288-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG n.7919-67_7919-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGG | |
19 | g.38502813dup | CA2584900956 | RYR1 | c.7836-67dup (n.7836-67dup) c.7833-67dup (n.7833-67dup) c.1288-67dup n.7919-67dup | gnomAD v4 |
19 | g.38502812_38502814delinsGGA | CA2335054692 | RYR1 | c.7836-68_7836-66delinsGGA (n.7836-68_7836-66delinsGGA) c.7833-68_7833-66delinsGGA (n.7833-68_7833-66delinsGGA) c.1288-68_1288-66delinsGGA n.7919-68_7919-66delinsGGA | |
19 | g.38502812_38502815del | CA995718533 | RYR1 | c.7836-68_7836-65del (n.7836-68_7836-65del) c.7833-68_7833-65del (n.7833-68_7833-65del) c.1288-68_1288-65del n.7919-68_7919-65del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502814_38502820del | CA2584900958 | RYR1 | c.7836-66_7836-60del (n.7836-66_7836-60del) c.7833-66_7833-60del (n.7833-66_7833-60del) c.1288-66_1288-60del n.7919-66_7919-60del | gnomAD v4 |
19 | g.38502813_38502827del | CA2584900959 | RYR1 | c.7836-67_7836-53del (n.7836-67_7836-53del) c.7833-67_7833-53del (n.7833-67_7833-53del) c.1288-67_1288-53del n.7919-67_7919-53del | gnomAD v4 |
19 | g.38502813G>A | CA633066323 | RYR1 | c.7836-67G>A (n.7836-67G>A) c.7833-67G>A (n.7833-67G>A) c.1288-67G>A n.7919-67G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502813G>C | CA633066324 | RYR1 | c.7836-67G>C (n.7836-67G>C) c.7833-67G>C (n.7833-67G>C) c.1288-67G>C n.7919-67G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502813G= | CA2335054694 | RYR1 | c.7836-67G= (n.7836-67G=) c.7833-67G= (n.7833-67G=) c.1288-67G= n.7919-67G= | |
19 | g.38502813G>T | CA2584900960 | RYR1 | c.7836-67G>T (n.7836-67G>T) c.7833-67G>T (n.7833-67G>T) c.1288-67G>T n.7919-67G>T | gnomAD v4 |
19 | g.38502813_38502814insGCCTGCAACTTCCTTCTG | CA2814347313 | RYR1 | c.7836-67_7836-66insGCCTGCAACTTCCTTCTG (n.7836-67_7836-66insGCCTGCAACTTCCTTCTG) c.7833-67_7833-66insGCCTGCAACTTCCTTCTG (n.7833-67_7833-66insGCCTGCAACTTCCTTCTG) c.1288-67_1288-66insGCCTGCAACTTCCTTCTG n.7919-67_7919-66insGCCTGCAACTTCCTTCTG | |
19 | g.38502814_38502815del | CA2335054696 | RYR1 | c.7836-66_7836-65del (n.7836-66_7836-65del) c.7833-66_7833-65del (n.7833-66_7833-65del) c.1288-66_1288-65del n.7919-66_7919-65del | dbSNP |
19 | g.38502813_38502817delinsGAGCA | CA2335054695 | RYR1 | c.7836-67_7836-63delinsGAGCA (n.7836-67_7836-63delinsGAGCA) c.7833-67_7833-63delinsGAGCA (n.7833-67_7833-63delinsGAGCA) c.1288-67_1288-63delinsGAGCA n.7919-67_7919-63delinsGAGCA | |
19 | g.38502813_38502831delinsGAGCAGGGGCAGGGGCAGC | CA2335054693 | RYR1 | c.7836-67_7836-49delinsGAGCAGGGGCAGGGGCAGC (n.7836-67_7836-49delinsGAGCAGGGGCAGGGGCAGC) c.7833-67_7833-49delinsGAGCAGGGGCAGGGGCAGC (n.7833-67_7833-49delinsGAGCAGGGGCAGGGGCAGC) c.1288-67_1288-49delinsGAGCAGGGGCAGGGGCAGC n.7919-67_7919-49delinsGAGCAGGGGCAGGGGCAGC | |
19 | g.38502813_38502814insGGC | CA633066326 | RYR1 | c.7836-67_7836-66insGGC (n.7836-67_7836-66insGGC) c.7833-67_7833-66insGGC (n.7833-67_7833-66insGGC) c.1288-67_1288-66insGGC n.7919-67_7919-66insGGC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502813_38502814insGGTT | CA2543880972 | RYR1 | c.7836-67_7836-66insGGTT (n.7836-67_7836-66insGGTT) c.7833-67_7833-66insGGTT (n.7833-67_7833-66insGGTT) c.1288-67_1288-66insGGTT n.7919-67_7919-66insGGTT | |
19 | g.38502813_38502814insGGCAGC | CA2533757468 | RYR1 | c.7836-67_7836-66insGGCAGC (n.7836-67_7836-66insGGCAGC) c.7833-67_7833-66insGGCAGC (n.7833-67_7833-66insGGCAGC) c.1288-67_1288-66insGGCAGC n.7919-67_7919-66insGGCAGC | |
19 | g.38502813_38502814insGGGAGGGGCAGGGGC | CA2584900961 | RYR1 | c.7836-67_7836-66insGGGAGGGGCAGGGGC (n.7836-67_7836-66insGGGAGGGGCAGGGGC) c.7833-67_7833-66insGGGAGGGGCAGGGGC (n.7833-67_7833-66insGGGAGGGGCAGGGGC) c.1288-67_1288-66insGGGAGGGGCAGGGGC n.7919-67_7919-66insGGGAGGGGCAGGGGC | gnomAD v4 |
19 | g.38502813_38502814insGGGAGGGGGAGGGGGAGGGGCAGGGGC | CA2584900964 | RYR1 | c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC (n.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC) c.7833-67_7833-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC (n.7833-67_7833-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC) c.1288-67_1288-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC n.7919-67_7919-66insGGGAGGGGGAGGGGGAGGGGCAGGGGC | gnomAD v4 |
19 | g.38502814del | CA2584900962 | RYR1 | c.7836-66del (n.7836-66del) c.7833-66del (n.7833-66del) c.1288-66del n.7919-66del | gnomAD v4 |
19 | g.38502814A= | CA2335054697 | RYR1 | c.7836-66A= (n.7836-66A=) c.7833-66A= (n.7833-66A=) c.1288-66A= n.7919-66A= | |
19 | g.38502814A>C | CA2581382508 | RYR1 | c.7836-66A>C (n.7836-66A>C) c.7833-66A>C (n.7833-66A>C) c.1288-66A>C n.7919-66A>C | |
19 | g.38502814A>G | CA024860 | RYR1 | c.7836-66A>G (n.7836-66A>G) c.7833-66A>G (n.7833-66A>G) c.1288-66A>G n.7919-66A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502814A>T | CA2581382509 | RYR1 | c.7836-66A>T (n.7836-66A>T) c.7833-66A>T (n.7833-66A>T) c.1288-66A>T n.7919-66A>T | gnomAD v4 |
19 | g.38502814_38502817del | CA633066325 | RYR1 | c.7836-66_7836-63del (n.7836-66_7836-63del) c.7833-66_7833-63del (n.7833-66_7833-63del) c.1288-66_1288-63del n.7919-66_7919-63del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502816_38502818del | CA2584900963 | RYR1 | c.7836-64_7836-62del (n.7836-64_7836-62del) c.7833-64_7833-62del (n.7833-64_7833-62del) c.1288-64_1288-62del n.7919-64_7919-62del | gnomAD v4 |
19 | g.38502814_38502826delinsAGCAGGGGCAGGG | CA2335054698 | RYR1 | c.7836-66_7836-54delinsAGCAGGGGCAGGG (n.7836-66_7836-54delinsAGCAGGGGCAGGG) c.7833-66_7833-54delinsAGCAGGGGCAGGG (n.7833-66_7833-54delinsAGCAGGGGCAGGG) c.1288-66_1288-54delinsAGCAGGGGCAGGG n.7919-66_7919-54delinsAGCAGGGGCAGGG | |
19 | g.38502816_38502833del | CA2335054699 | RYR1 | c.7836-64_7836-47del (n.7836-64_7836-47del) c.7833-64_7833-47del (n.7833-64_7833-47del) c.1288-64_1288-47del n.7919-64_7919-47del | dbSNP gnomAD v4 |
19 | g.38502815G>A | CA882054270 | RYR1 | c.7836-65G>A (n.7836-65G>A) c.7833-65G>A (n.7833-65G>A) c.1288-65G>A n.7919-65G>A | dbSNP gnomAD v4 |
19 | g.38502815G>C | CA2584900975 | RYR1 | c.7836-65G>C (n.7836-65G>C) c.7833-65G>C (n.7833-65G>C) c.1288-65G>C n.7919-65G>C | gnomAD v4 |
19 | g.38502815G= | CA2335054700 | RYR1 | c.7836-65G= (n.7836-65G=) c.7833-65G= (n.7833-65G=) c.1288-65G= n.7919-65G= | |
19 | g.38502815G>T | CA2335054701 | RYR1 | c.7836-65G>T (n.7836-65G>T) c.7833-65G>T (n.7833-65G>T) c.1288-65G>T n.7919-65G>T | dbSNP gnomAD v4 |
19 | g.38502815_38502816insGG | CA2584900979 | RYR1 | c.7836-65_7836-64insGG (n.7836-65_7836-64insGG) c.7833-65_7833-64insGG (n.7833-65_7833-64insGG) c.1288-65_1288-64insGG n.7919-65_7919-64insGG | gnomAD v4 |
19 | g.38502815_38502816insGGG | CA633066327 | RYR1 | c.7836-65_7836-64insGGG (n.7836-65_7836-64insGGG) c.7833-65_7833-64insGGG (n.7833-65_7833-64insGGG) c.1288-65_1288-64insGGG n.7919-65_7919-64insGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502815_38502816insGGGG | CA2584900981 | RYR1 | c.7836-65_7836-64insGGGG (n.7836-65_7836-64insGGGG) c.7833-65_7833-64insGGGG (n.7833-65_7833-64insGGGG) c.1288-65_1288-64insGGGG n.7919-65_7919-64insGGGG | gnomAD v4 |
19 | g.38502815_38502816insGAGGGG | CA995718575 | RYR1 | c.7836-65_7836-64insGAGGGG (n.7836-65_7836-64insGAGGGG) c.7833-65_7833-64insGAGGGG (n.7833-65_7833-64insGAGGGG) c.1288-65_1288-64insGAGGGG n.7919-65_7919-64insGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502815_38502816insTAGGGG | CA2584900974 | RYR1 | c.7836-65_7836-64insTAGGGG (n.7836-65_7836-64insTAGGGG) c.7833-65_7833-64insTAGGGG (n.7833-65_7833-64insTAGGGG) c.1288-65_1288-64insTAGGGG n.7919-65_7919-64insTAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGAGCAGGGG | CA2584900980 | RYR1 | c.7836-65_7836-64insGAGCAGGGG (n.7836-65_7836-64insGAGCAGGGG) c.7833-65_7833-64insGAGCAGGGG (n.7833-65_7833-64insGAGCAGGGG) c.1288-65_1288-64insGAGCAGGGG n.7919-65_7919-64insGAGCAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGAGGAGGGG | CA995718579 | RYR1 | c.7836-65_7836-64insGAGGAGGGG (n.7836-65_7836-64insGAGGAGGGG) c.7833-65_7833-64insGAGGAGGGG (n.7833-65_7833-64insGAGGAGGGG) c.1288-65_1288-64insGAGGAGGGG n.7919-65_7919-64insGAGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502815_38502816insGGGCAGGGG | CA2584900982 | RYR1 | c.7836-65_7836-64insGGGCAGGGG (n.7836-65_7836-64insGGGCAGGGG) c.7833-65_7833-64insGGGCAGGGG (n.7833-65_7833-64insGGGCAGGGG) c.1288-65_1288-64insGGGCAGGGG n.7919-65_7919-64insGGGCAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGG | CA633066329 | RYR1 | c.7836-65_7836-64insGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGG) c.7833-65_7833-64insGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGG) c.1288-65_1288-64insGGGGAGGGG n.7919-65_7919-64insGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502815_38502816insGGGGGGGGG | CA2584900973 | RYR1 | c.7836-65_7836-64insGGGGGGGGG (n.7836-65_7836-64insGGGGGGGGG) c.7833-65_7833-64insGGGGGGGGG (n.7833-65_7833-64insGGGGGGGGG) c.1288-65_1288-64insGGGGGGGGG n.7919-65_7919-64insGGGGGGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGCAGGGGCAGGGG | CA2584900983 | RYR1 | c.7836-65_7836-64insGGGCAGGGGCAGGGG (n.7836-65_7836-64insGGGCAGGGGCAGGGG) c.7833-65_7833-64insGGGCAGGGGCAGGGG (n.7833-65_7833-64insGGGCAGGGGCAGGGG) c.1288-65_1288-64insGGGCAGGGGCAGGGG n.7919-65_7919-64insGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGCAGGGGGAGGGG | CA2584900985 | RYR1 | c.7836-65_7836-64insGGGCAGGGGGAGGGG (n.7836-65_7836-64insGGGCAGGGGGAGGGG) c.7833-65_7833-64insGGGCAGGGGGAGGGG (n.7833-65_7833-64insGGGCAGGGGGAGGGG) c.1288-65_1288-64insGGGCAGGGGGAGGGG n.7919-65_7919-64insGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGAGCAGGGG | CA995718568 | RYR1 | c.7836-65_7836-64insGGGGAGGAGCAGGGG (n.7836-65_7836-64insGGGGAGGAGCAGGGG) c.7833-65_7833-64insGGGGAGGAGCAGGGG (n.7833-65_7833-64insGGGGAGGAGCAGGGG) c.1288-65_1288-64insGGGGAGGAGCAGGGG n.7919-65_7919-64insGGGGAGGAGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGGCAGGGG | CA2584900965 | RYR1 | c.7836-65_7836-64insGGGGAGGGGCAGGGG (n.7836-65_7836-64insGGGGAGGGGCAGGGG) c.7833-65_7833-64insGGGGAGGGGCAGGGG (n.7833-65_7833-64insGGGGAGGGGCAGGGG) c.1288-65_1288-64insGGGGAGGGGCAGGGG n.7919-65_7919-64insGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGGGAGGGG | CA633066328 | RYR1 | c.7836-65_7836-64insGGGGAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGG) c.7833-65_7833-64insGGGGAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGG) c.1288-65_1288-64insGGGGAGGGGGAGGGG n.7919-65_7919-64insGGGGAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGGGAGGGGCAGGGG | CA2584900967 | RYR1 | c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGG) c.7833-65_7833-64insGGGGAGGGGGAGGGGCAGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGGCAGGGG) c.1288-65_1288-64insGGGGAGGGGGAGGGGCAGGGG n.7919-65_7919-64insGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGGCAGGGGGAGGGG | CA2584900966 | RYR1 | c.7836-65_7836-64insGGGGAGGGGCAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGCAGGGGGAGGGG) c.7833-65_7833-64insGGGGAGGGGCAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGCAGGGGGAGGGG) c.1288-65_1288-64insGGGGAGGGGCAGGGGGAGGGG n.7919-65_7919-64insGGGGAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGCAGGGGGAGGGGCAGGGG | CA2584900986 | RYR1 | c.7836-65_7836-64insGGGCAGGGGGAGGGGCAGGGG (n.7836-65_7836-64insGGGCAGGGGGAGGGGCAGGGG) c.7833-65_7833-64insGGGCAGGGGGAGGGGCAGGGG (n.7833-65_7833-64insGGGCAGGGGGAGGGGCAGGGG) c.1288-65_1288-64insGGGCAGGGGGAGGGGCAGGGG n.7919-65_7919-64insGGGCAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGCAGGGGGAGGGGGAGGGG | CA995718569 | RYR1 | c.7836-65_7836-64insGGGCAGGGGGAGGGGGAGGGG (n.7836-65_7836-64insGGGCAGGGGGAGGGGGAGGGG) c.7833-65_7833-64insGGGCAGGGGGAGGGGGAGGGG (n.7833-65_7833-64insGGGCAGGGGGAGGGGGAGGGG) c.1288-65_1288-64insGGGCAGGGGGAGGGGGAGGGG n.7919-65_7919-64insGGGCAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGGGAGGGGGGGGGG | CA2584900971 | RYR1 | c.7836-65_7836-64insGGGGAGGGGGAGGGGGGGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGGGGGGGG) c.7833-65_7833-64insGGGGAGGGGGAGGGGGGGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGGGGGGGG) c.1288-65_1288-64insGGGGAGGGGGAGGGGGGGGGG n.7919-65_7919-64insGGGGAGGGGGAGGGGGGGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGGGAGGGGGAGGGG | CA2582145388 | RYR1 | c.7836-65_7836-64insGGGGAGGGGGAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGGGAGGGG) c.7833-65_7833-64insGGGGAGGGGGAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGGGAGGGG) c.1288-65_1288-64insGGGGAGGGGGAGGGGGAGGGG n.7919-65_7919-64insGGGGAGGGGGAGGGGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGGTTAGGGGGAGGGG | CA2584900972 | RYR1 | c.7836-65_7836-64insGGGGAGGGGTTAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGTTAGGGGGAGGGG) c.7833-65_7833-64insGGGGAGGGGTTAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGTTAGGGGGAGGGG) c.1288-65_1288-64insGGGGAGGGGTTAGGGGGAGGGG n.7919-65_7919-64insGGGGAGGGGTTAGGGGGAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900970 | RYR1 | c.7836-65_7836-64insGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-65_7833-64insGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-65_1288-64insGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-65_7919-64insGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2582145389 | RYR1 | c.7836-65_7836-64insGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-65_7833-64insGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-65_1288-64insGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-65_7919-64insGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGGGAGGGGCAGGGGGAGGGG | CA2584900968 | RYR1 | c.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGGCAGGGGGAGGGG) c.7833-65_7833-64insGGGGAGGGGGAGGGGCAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGGCAGGGGGAGGGG) c.1288-65_1288-64insGGGGAGGGGGAGGGGCAGGGGGAGGGG n.7919-65_7919-64insGGGGAGGGGGAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG | CA2584900969 | RYR1 | c.7836-65_7836-64insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG) c.7833-65_7833-64insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG) c.1288-65_1288-64insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG n.7919-65_7919-64insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | CA2584900984 | RYR1 | c.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-65_7836-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.7833-65_7833-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-65_7833-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.1288-65_1288-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG n.7919-65_7919-64insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502815_38502816insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG | CA995718561 | RYR1 | c.7836-65_7836-64insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7836-65_7836-64insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG) c.7833-65_7833-64insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG (n.7833-65_7833-64insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG) c.1288-65_1288-64insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG n.7919-65_7919-64insGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGG | |
19 | g.38502819_38502820insAGCAGGGGCAGG | CA995718601 | RYR1 | c.7836-61_7836-60insAGCAGGGGCAGG (n.7836-61_7836-60insAGCAGGGGCAGG) c.7833-61_7833-60insAGCAGGGGCAGG (n.7833-61_7833-60insAGCAGGGGCAGG) c.1288-61_1288-60insAGCAGGGGCAGG n.7919-61_7919-60insAGCAGGGGCAGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGCAGGGG | CA920105625 | RYR1 | c.7836-59_7836-58insGAGGGCAGGGG (n.7836-59_7836-58insGAGGGCAGGGG) c.7833-59_7833-58insGAGGGCAGGGG (n.7833-59_7833-58insGAGGGCAGGGG) c.1288-59_1288-58insGAGGGCAGGGG n.7919-59_7919-58insGAGGGCAGGGG | dbSNP |
19 | g.38502821_38502822insGAGGGGCAGGGG | CA995718581 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGG (n.7836-59_7836-58insGAGGGGCAGGGG) c.7833-59_7833-58insGAGGGGCAGGGG (n.7833-59_7833-58insGAGGGGCAGGGG) c.1288-59_1288-58insGAGGGGCAGGGG n.7919-59_7919-58insGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGAGCAGGGGCAGGGG | CA995718585 | RYR1 | c.7836-59_7836-58insGAGGAGCAGGGGCAGGGG (n.7836-59_7836-58insGAGGAGCAGGGGCAGGGG) c.7833-59_7833-58insGAGGAGCAGGGGCAGGGG (n.7833-59_7833-58insGAGGAGCAGGGGCAGGGG) c.1288-59_1288-58insGAGGAGCAGGGGCAGGGG n.7919-59_7919-58insGAGGAGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGAGCAGGGGCAGGGGCAGGGG | CA2584900978 | RYR1 | c.7836-59_7836-58insGAGGAGCAGGGGCAGGGGCAGGGG (n.7836-59_7836-58insGAGGAGCAGGGGCAGGGGCAGGGG) c.7833-59_7833-58insGAGGAGCAGGGGCAGGGGCAGGGG (n.7833-59_7833-58insGAGGAGCAGGGGCAGGGGCAGGGG) c.1288-59_1288-58insGAGGAGCAGGGGCAGGGGCAGGGG n.7919-59_7919-58insGAGGAGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAG | CA2584900976 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG | CA2584900977 | RYR1 | c.7836-50_7836-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG | CA995718589 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGGGGCAG | gnomAD v3 gnomAD v4 |
19 | g.38502825_38502830dup | CA308112974 | RYR1 | c.7836-55_7836-50dup (n.7836-55_7836-50dup) c.7833-55_7833-50dup (n.7833-55_7833-50dup) c.1288-55_1288-50dup n.7919-55_7919-50dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502819_38502830dup | CA995718557 | RYR1 | c.7836-61_7836-50dup (n.7836-61_7836-50dup) c.7833-61_7833-50dup (n.7833-61_7833-50dup) c.1288-61_1288-50dup n.7919-61_7919-50dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502825_38502830del | CA2576771135 | RYR1 | c.7836-55_7836-50del (n.7836-55_7836-50del) c.7833-55_7833-50del (n.7833-55_7833-50del) c.1288-55_1288-50del n.7919-55_7919-50del | gnomAD v4 |
19 | g.38502819_38502830del | CA882054274 | RYR1 | c.7836-61_7836-50del (n.7836-61_7836-50del) c.7833-61_7833-50del (n.7833-61_7833-50del) c.1288-61_1288-50del n.7919-61_7919-50del | dbSNP gnomAD v4 |
19 | g.38502816del | CA2814347317 | RYR1 | c.7836-64del (n.7836-64del) c.7833-64del (n.7833-64del) c.1288-64del n.7919-64del | |
19 | g.38502816C>A | CA2584900989 | RYR1 | c.7836-64C>A (n.7836-64C>A) c.7833-64C>A (n.7833-64C>A) c.1288-64C>A n.7919-64C>A | gnomAD v4 |
19 | g.38502816C= | CA2335054702 | RYR1 | c.7836-64C= (n.7836-64C=) c.7833-64C= (n.7833-64C=) c.1288-64C= n.7919-64C= | |
19 | g.38502816C>G | CA308112981 | RYR1 | c.7836-64C>G (n.7836-64C>G) c.7833-64C>G (n.7833-64C>G) c.1288-64C>G n.7919-64C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502816C>T | CA2335054703 | RYR1 | c.7836-64C>T (n.7836-64C>T) c.7833-64C>T (n.7833-64C>T) c.1288-64C>T n.7919-64C>T | dbSNP gnomAD v4 |
19 | g.38502816_38502817del | CA2584900987 | RYR1 | c.7836-64_7836-63del (n.7836-64_7836-63del) c.7833-64_7833-63del (n.7833-64_7833-63del) c.1288-64_1288-63del n.7919-64_7919-63del | gnomAD v4 |
19 | g.38502820_38502821insTCAGGG | CA2335054704 | RYR1 | c.7836-60_7836-59insTCAGGG (n.7836-60_7836-59insTCAGGG) c.7833-60_7833-59insTCAGGG (n.7833-60_7833-59insTCAGGG) c.1288-60_1288-59insTCAGGG n.7919-60_7919-59insTCAGGG | dbSNP |
19 | g.38502821_38502822insGAGGACCAGGGG | CA2832581617 | RYR1 | c.7836-59_7836-58insGAGGACCAGGGG (n.7836-59_7836-58insGAGGACCAGGGG) c.7833-59_7833-58insGAGGACCAGGGG (n.7833-59_7833-58insGAGGACCAGGGG) c.1288-59_1288-58insGAGGACCAGGGG n.7919-59_7919-58insGAGGACCAGGGG | |
19 | g.38502816_38502829del | CA2584900988 | RYR1 | c.7836-64_7836-51del (n.7836-64_7836-51del) c.7833-64_7833-51del (n.7833-64_7833-51del) c.1288-64_1288-51del n.7919-64_7919-51del | gnomAD v4 |
19 | g.38502816_38502817insGGG | CA2584901008 | RYR1 | c.7836-64_7836-63insGGG (n.7836-64_7836-63insGGG) c.7833-64_7833-63insGGG (n.7833-64_7833-63insGGG) c.1288-64_1288-63insGGG n.7919-64_7919-63insGGG | gnomAD v4 |
19 | g.38502816_38502817insCGGGGGAGGGGG | CA2563128778 | RYR1 | c.7836-64_7836-63insCGGGGGAGGGGG (n.7836-64_7836-63insCGGGGGAGGGGG) c.7833-64_7833-63insCGGGGGAGGGGG (n.7833-64_7833-63insCGGGGGAGGGGG) c.1288-64_1288-63insCGGGGGAGGGGG n.7919-64_7919-63insCGGGGGAGGGGG | |
19 | g.38502816_38502817insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG | CA2584901009 | RYR1 | c.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG (n.7836-64_7836-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG) c.7833-64_7833-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG (n.7833-64_7833-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG) c.1288-64_1288-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG n.7919-64_7919-63insGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGG | gnomAD v4 |
19 | g.38502817A= | CA2335054705 | RYR1 | c.7836-63A= (n.7836-63A=) c.7833-63A= (n.7833-63A=) c.1288-63A= n.7919-63A= | |
19 | g.38502817A>C | CA995718639 | RYR1 | c.7836-63A>C (n.7836-63A>C) c.7833-63A>C (n.7833-63A>C) c.1288-63A>C n.7919-63A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502817A>G | CA995718643 | RYR1 | c.7836-63A>G (n.7836-63A>G) c.7833-63A>G (n.7833-63A>G) c.1288-63A>G n.7919-63A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502817A>T | CA995718644 | RYR1 | c.7836-63A>T (n.7836-63A>T) c.7833-63A>T (n.7833-63A>T) c.1288-63A>T n.7919-63A>T | gnomAD v3 gnomAD v4 |
19 | g.38502818_38502819insAGCGGGCCTGGACGGGGGGGGGAG | CA2584901027 | RYR1 | c.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG (n.7836-62_7836-61insAGCGGGCCTGGACGGGGGGGGGAG) c.7833-62_7833-61insAGCGGGCCTGGACGGGGGGGGGAG (n.7833-62_7833-61insAGCGGGCCTGGACGGGGGGGGGAG) c.1288-62_1288-61insAGCGGGCCTGGACGGGGGGGGGAG n.7919-62_7919-61insAGCGGGCCTGGACGGGGGGGGGAG | gnomAD v4 |
19 | g.38502817_38502819del | CA2584901010 | RYR1 | c.7836-63_7836-61del (n.7836-63_7836-61del) c.7833-63_7833-61del (n.7833-63_7833-61del) c.1288-63_1288-61del n.7919-63_7919-61del | gnomAD v4 |
19 | g.38502820_38502821insAGAGGGGGAGGG | CA995718693 | RYR1 | c.7836-60_7836-59insAGAGGGGGAGGG (n.7836-60_7836-59insAGAGGGGGAGGG) c.7833-60_7833-59insAGAGGGGGAGGG (n.7833-60_7833-59insAGAGGGGGAGGG) c.1288-60_1288-59insAGAGGGGGAGGG n.7919-60_7919-59insAGAGGGGGAGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502820_38502821insAGAGGGGGAGGGGGAGGG | CA2584901024 | RYR1 | c.7836-60_7836-59insAGAGGGGGAGGGGGAGGG (n.7836-60_7836-59insAGAGGGGGAGGGGGAGGG) c.7833-60_7833-59insAGAGGGGGAGGGGGAGGG (n.7833-60_7833-59insAGAGGGGGAGGGGGAGGG) c.1288-60_1288-59insAGAGGGGGAGGGGGAGGG n.7919-60_7919-59insAGAGGGGGAGGGGGAGGG | gnomAD v4 |
19 | g.38502817_38502821del | CA2584901011 | RYR1 | c.7836-63_7836-59del (n.7836-63_7836-59del) c.7833-63_7833-59del (n.7833-63_7833-59del) c.1288-63_1288-59del n.7919-63_7919-59del | gnomAD v4 |
19 | g.38502821_38502822insGAGGGG | CA633066330 | RYR1 | c.7836-59_7836-58insGAGGGG (n.7836-59_7836-58insGAGGGG) c.7833-59_7833-58insGAGGGG (n.7833-59_7833-58insGAGGGG) c.1288-59_1288-58insGAGGGG n.7919-59_7919-58insGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insAGGGGGAGGGG | CA2814347329 | RYR1 | c.7836-59_7836-58insAGGGGGAGGGG (n.7836-59_7836-58insAGGGGGAGGGG) c.7833-59_7833-58insAGGGGGAGGGG (n.7833-59_7833-58insAGGGGGAGGGG) c.1288-59_1288-58insAGGGGGAGGGG n.7919-59_7919-58insAGGGGGAGGGG | |
19 | g.38502821_38502822insGGGGGGAGGGG | CA2814347325 | RYR1 | c.7836-59_7836-58insGGGGGGAGGGG (n.7836-59_7836-58insGGGGGGAGGGG) c.7833-59_7833-58insGGGGGGAGGGG (n.7833-59_7833-58insGGGGGGAGGGG) c.1288-59_1288-58insGGGGGGAGGGG n.7919-59_7919-58insGGGGGGAGGGG | |
19 | g.38502821_38502822insGAGAGGGAGGGG | CA995718650 | RYR1 | c.7836-59_7836-58insGAGAGGGAGGGG (n.7836-59_7836-58insGAGAGGGAGGGG) c.7833-59_7833-58insGAGAGGGAGGGG (n.7833-59_7833-58insGAGAGGGAGGGG) c.1288-59_1288-58insGAGAGGGAGGGG n.7919-59_7919-58insGAGAGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGG | CA633066333 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGCGGGGGAGGGG | CA2584901006 | RYR1 | c.7836-59_7836-58insGCGGGGGAGGGG (n.7836-59_7836-58insGCGGGGGAGGGG) c.7833-59_7833-58insGCGGGGGAGGGG (n.7833-59_7833-58insGCGGGGGAGGGG) c.1288-59_1288-58insGCGGGGGAGGGG n.7919-59_7919-58insGCGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGGGGGGGAGGGG | CA2584901007 | RYR1 | c.7836-59_7836-58insGGGGGGGAGGGG (n.7836-59_7836-58insGGGGGGGAGGGG) c.7833-59_7833-58insGGGGGGGAGGGG (n.7833-59_7833-58insGGGGGGGAGGGG) c.1288-59_1288-58insGGGGGGGAGGGG n.7919-59_7919-58insGGGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGG | CA995718628 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGGGGGGGAGGGG | CA2584901005 | RYR1 | c.7836-59_7836-58insGAGGGGGGGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGGGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGGGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGGGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGGGGGGGAGGGG n.7919-59_7919-58insGAGGGGGGGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGGAGGGG | CA633066332 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGCAGGGGGAGGGG | CA2584901029 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGCAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGCAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGCAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGCAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGCAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900990 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2582145390 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584901021 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584901002 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG | CA2584900999 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA995718637 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA995718633 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA633066331 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | CA2584900996 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA995718624 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG | CA2584900993 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCCGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG | CA2584900995 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGAGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2584901001 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG | CA2584900997 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584901004 | RYR1 | c.7836-59_7836-58insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGGGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584900998 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG | CA2584900992 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2524001460 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA2584900994 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | CA2584901003 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584901000 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2584901028 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584900991 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | CA2584901026 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502817_38502825del | CA2584901012 | RYR1 | c.7836-63_7836-55del (n.7836-63_7836-55del) c.7833-63_7833-55del (n.7833-63_7833-55del) c.1288-63_1288-55del n.7919-63_7919-55del | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGG | CA995718667 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGGGAGGGGCAGGGG | CA2584901030 | RYR1 | c.7836-53_7836-52insGGGAGGGGCAGGGG (n.7836-53_7836-52insGGGAGGGGCAGGGG) c.7833-53_7833-52insGGGAGGGGCAGGGG (n.7833-53_7833-52insGGGAGGGGCAGGGG) c.1288-53_1288-52insGGGAGGGGCAGGGG n.7919-53_7919-52insGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGCAGGGG | CA995718652 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGCAGGGG | CA2584901033 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGCAGGGG | dbSNP gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA995718645 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2584901034 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | CA2584901014 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2584901015 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA995718654 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | CA2335054706 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | dbSNP gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2584901031 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | CA2814347331 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2584901032 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2584901013 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA2582145391 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | CA2584901025 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG n.7919-53_7919-52insGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAGGGGCAG | CA995718685 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGGGCAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGGGCAGGGGCAG | CA995718690 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGGGCAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGCAGGGGCAG | CA2584901018 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | CA2584901020 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG | CA2584901017 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG | CA2584901016 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGGAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | CA2584901019 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | CA2584901022 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG | CA2525411784 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | CA2584901023 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAGGGGCAG | gnomAD v4 |
19 | g.38502818G>A | CA2335054707 | RYR1 | c.7836-62G>A (n.7836-62G>A) c.7833-62G>A (n.7833-62G>A) c.1288-62G>A n.7919-62G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502818G>C | CA2335054709 | RYR1 | c.7836-62G>C (n.7836-62G>C) c.7833-62G>C (n.7833-62G>C) c.1288-62G>C n.7919-62G>C | dbSNP gnomAD v4 |
19 | g.38502818G= | CA2335054710 | RYR1 | c.7836-62G= (n.7836-62G=) c.7833-62G= (n.7833-62G=) c.1288-62G= n.7919-62G= | |
19 | g.38502818G>T | CA2335054708 | RYR1 | c.7836-62G>T (n.7836-62G>T) c.7833-62G>T (n.7833-62G>T) c.1288-62G>T n.7919-62G>T | dbSNP gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGGGGG | CA2584901037 | RYR1 | c.7836-59_7836-58insGAGGGGGGGGG (n.7836-59_7836-58insGAGGGGGGGGG) c.7833-59_7833-58insGAGGGGGGGGG (n.7833-59_7833-58insGAGGGGGGGGG) c.1288-59_1288-58insGAGGGGGGGGG n.7919-59_7919-58insGAGGGGGGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGCGGGG | CA2584901035 | RYR1 | c.7836-59_7836-58insGAGGGGGCGGGG (n.7836-59_7836-58insGAGGGGGCGGGG) c.7833-59_7833-58insGAGGGGGCGGGG (n.7833-59_7833-58insGAGGGGGCGGGG) c.1288-59_1288-58insGAGGGGGCGGGG n.7919-59_7919-58insGAGGGGGCGGGG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGGGGGG | CA995718702 | RYR1 | c.7836-59_7836-58insGAGGGGGGGGGG (n.7836-59_7836-58insGAGGGGGGGGGG) c.7833-59_7833-58insGAGGGGGGGGGG (n.7833-59_7833-58insGAGGGGGGGGGG) c.1288-59_1288-58insGAGGGGGGGGGG n.7919-59_7919-58insGAGGGGGGGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502821del | CA2531796320 | RYR1 | c.7836-59del (n.7836-59del) c.7833-59del (n.7833-59del) c.1288-59del n.7919-59del | |
19 | g.38502822_38502823insCGGGGC | CA2736032409 | RYR1 | c.7836-58_7836-57insCGGGGC (n.7836-58_7836-57insCGGGGC) c.7833-58_7833-57insCGGGGC (n.7833-58_7833-57insCGGGGC) c.1288-58_1288-57insCGGGGC n.7919-58_7919-57insCGGGGC | dbSNP |
19 | g.38502819_38502827del | CA2584901036 | RYR1 | c.7836-61_7836-53del (n.7836-61_7836-53del) c.7833-61_7833-53del (n.7833-61_7833-53del) c.1288-61_1288-53del n.7919-61_7919-53del | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG | CA2504081048 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGGGGGGCGGGGGCAGGGGCAG | |
19 | g.38502820_38502839del | CA2584901038 | RYR1 | c.7836-60_7836-41del (n.7836-60_7836-41del) c.7833-60_7833-41del (n.7833-60_7833-41del) c.1288-60_1288-41del n.7919-60_7919-41del | gnomAD v4 |
19 | g.38502819G>A | CA308112983 | RYR1 | c.7836-61G>A (n.7836-61G>A) c.7833-61G>A (n.7833-61G>A) c.1288-61G>A n.7919-61G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502819G>C | CA2584901040 | RYR1 | c.7836-61G>C (n.7836-61G>C) c.7833-61G>C (n.7833-61G>C) c.1288-61G>C n.7919-61G>C | gnomAD v4 |
19 | g.38502819G= | CA2335054711 | RYR1 | c.7836-61G= (n.7836-61G=) c.7833-61G= (n.7833-61G=) c.1288-61G= n.7919-61G= | |
19 | g.38502819G>T | CA2814347338 | RYR1 | c.7836-61G>T (n.7836-61G>T) c.7833-61G>T (n.7833-61G>T) c.1288-61G>T n.7919-61G>T | |
19 | g.38502823_38502840del | CA2584901039 | RYR1 | c.7836-57_7836-40del (n.7836-57_7836-40del) c.7833-57_7833-40del (n.7833-57_7833-40del) c.1288-57_1288-40del n.7919-57_7919-40del | gnomAD v4 |
19 | g.38502820G>A | CA308112985 | RYR1 | c.7836-60G>A (n.7836-60G>A) c.7833-60G>A (n.7833-60G>A) c.1288-60G>A n.7919-60G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502820G>C | CA308112990 | RYR1 | c.7836-60G>C (n.7836-60G>C) c.7833-60G>C (n.7833-60G>C) c.1288-60G>C n.7919-60G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502820G= | CA2335054712 | RYR1 | c.7836-60G= (n.7836-60G=) c.7833-60G= (n.7833-60G=) c.1288-60G= n.7919-60G= | |
19 | g.38502820G>T | CA2584901041 | RYR1 | c.7836-60G>T (n.7836-60G>T) c.7833-60G>T (n.7833-60G>T) c.1288-60G>T n.7919-60G>T | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGAGG | CA995718709 | RYR1 | c.7836-59_7836-58insGAGGGGGAGAGG (n.7836-59_7836-58insGAGGGGGAGAGG) c.7833-59_7833-58insGAGGGGGAGAGG (n.7833-59_7833-58insGAGGGGGAGAGG) c.1288-59_1288-58insGAGGGGGAGAGG n.7919-59_7919-58insGAGGGGGAGAGG | gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGTGG | CA2582145392 | RYR1 | c.7836-59_7836-58insGAGGGGGAGTGG (n.7836-59_7836-58insGAGGGGGAGTGG) c.7833-59_7833-58insGAGGGGGAGTGG (n.7833-59_7833-58insGAGGGGGAGTGG) c.1288-59_1288-58insGAGGGGGAGTGG n.7919-59_7919-58insGAGGGGGAGTGG | gnomAD v3 gnomAD v4 |
19 | g.38502824_38502825insAGGCAG | CA2736032431 | RYR1 | c.7836-56_7836-55insAGGCAG (n.7836-56_7836-55insAGGCAG) c.7833-56_7833-55insAGGCAG (n.7833-56_7833-55insAGGCAG) c.1288-56_1288-55insAGGCAG n.7919-56_7919-55insAGGCAG | dbSNP |
19 | g.38502820_38502828delinsGGCAGGGGC | CA2335054714 | RYR1 | c.7836-60_7836-52delinsGGCAGGGGC (n.7836-60_7836-52delinsGGCAGGGGC) c.7833-60_7833-52delinsGGCAGGGGC (n.7833-60_7833-52delinsGGCAGGGGC) c.1288-60_1288-52delinsGGCAGGGGC n.7919-60_7919-52delinsGGCAGGGGC | |
19 | g.38502821G>A | CA633066335 | RYR1 | c.7836-59G>A (n.7836-59G>A) c.7833-59G>A (n.7833-59G>A) c.1288-59G>A n.7919-59G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502821G>C | CA2584901043 | RYR1 | c.7836-59G>C (n.7836-59G>C) c.7833-59G>C (n.7833-59G>C) c.1288-59G>C n.7919-59G>C | gnomAD v4 |
19 | g.38502821G= | CA2335054715 | RYR1 | c.7836-59G= (n.7836-59G=) c.7833-59G= (n.7833-59G=) c.1288-59G= n.7919-59G= | |
19 | g.38502821G>T | CA2584901042 | RYR1 | c.7836-59G>T (n.7836-59G>T) c.7833-59G>T (n.7833-59G>T) c.1288-59G>T n.7919-59G>T | gnomAD v4 |
19 | g.38502821_38502822insGAGGAG | CA995718716 | RYR1 | c.7836-59_7836-58insGAGGAG (n.7836-59_7836-58insGAGGAG) c.7833-59_7833-58insGAGGAG (n.7833-59_7833-58insGAGGAG) c.1288-59_1288-58insGAGGAG n.7919-59_7919-58insGAGGAG | gnomAD v3 gnomAD v4 |
19 | g.38502821_38502822insGAGGAGCAGGAG | CA2584901046 | RYR1 | c.7836-59_7836-58insGAGGAGCAGGAG (n.7836-59_7836-58insGAGGAGCAGGAG) c.7833-59_7833-58insGAGGAGCAGGAG (n.7833-59_7833-58insGAGGAGCAGGAG) c.1288-59_1288-58insGAGGAGCAGGAG n.7919-59_7919-58insGAGGAGCAGGAG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGAG | CA2584901045 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGAG (n.7836-59_7836-58insGAGGGGGAGGAG) c.7833-59_7833-58insGAGGGGGAGGAG (n.7833-59_7833-58insGAGGGGGAGGAG) c.1288-59_1288-58insGAGGGGGAGGAG n.7919-59_7919-58insGAGGGGGAGGAG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGCG | CA2584901044 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGCG (n.7836-59_7836-58insGAGGGGGAGGCG) c.7833-59_7833-58insGAGGGGGAGGCG (n.7833-59_7833-58insGAGGGGGAGGCG) c.1288-59_1288-58insGAGGGGGAGGCG n.7919-59_7919-58insGAGGGGGAGGCG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGCAGGGGGAGGGGGAGGCG | CA2335054713 | RYR1 | c.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGCG (n.7836-59_7836-58insGAGGGGCAGGGGGAGGGGGAGGCG) c.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGCG (n.7833-59_7833-58insGAGGGGCAGGGGGAGGGGGAGGCG) c.1288-59_1288-58insGAGGGGCAGGGGGAGGGGGAGGCG n.7919-59_7919-58insGAGGGGCAGGGGGAGGGGGAGGCG | dbSNP |
19 | g.38502821_38502822del | CA633066334 | RYR1 | c.7836-59_7836-58del (n.7836-59_7836-58del) c.7833-59_7833-58del (n.7833-59_7833-58del) c.1288-59_1288-58del n.7919-59_7919-58del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGAGCAGGGG | CA2584901047 | RYR1 | c.7836-53_7836-52insGAGGAGCAGGGG (n.7836-53_7836-52insGAGGAGCAGGGG) c.7833-53_7833-52insGAGGAGCAGGGG (n.7833-53_7833-52insGAGGAGCAGGGG) c.1288-53_1288-52insGAGGAGCAGGGG n.7919-53_7919-52insGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502821_38502828del | CA995718718 | RYR1 | c.7836-59_7836-52del (n.7836-59_7836-52del) c.7833-59_7833-52del (n.7833-59_7833-52del) c.1288-59_1288-52del n.7919-59_7919-52del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGAGCAGGGGCAG | CA2584901048 | RYR1 | c.7836-50_7836-49insGGGGAGGAGCAGGGGCAG (n.7836-50_7836-49insGGGGAGGAGCAGGGGCAG) c.7833-50_7833-49insGGGGAGGAGCAGGGGCAG (n.7833-50_7833-49insGGGGAGGAGCAGGGGCAG) c.1288-50_1288-49insGGGGAGGAGCAGGGGCAG n.7919-50_7919-49insGGGGAGGAGCAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGAGCAGGGGCAG | CA2584901049 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGAGCAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGAGCAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGAGCAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGAGCAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGAGCAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGAGCAGGGGCAG | gnomAD v4 |
19 | g.38502821_38502822insGAGGGA | CA2584901050 | RYR1 | c.7836-59_7836-58insGAGGGA (n.7836-59_7836-58insGAGGGA) c.7833-59_7833-58insGAGGGA (n.7833-59_7833-58insGAGGGA) c.1288-59_1288-58insGAGGGA n.7919-59_7919-58insGAGGGA | gnomAD v4 |
19 | g.38502821_38502822insGAGGGGGAGGGGGAGGGT | CA2584901051 | RYR1 | c.7836-59_7836-58insGAGGGGGAGGGGGAGGGT (n.7836-59_7836-58insGAGGGGGAGGGGGAGGGT) c.7833-59_7833-58insGAGGGGGAGGGGGAGGGT (n.7833-59_7833-58insGAGGGGGAGGGGGAGGGT) c.1288-59_1288-58insGAGGGGGAGGGGGAGGGT n.7919-59_7919-58insGAGGGGGAGGGGGAGGGT | gnomAD v4 |
19 | g.38502822C>A | CA995718732 | RYR1 | c.7836-58C>A (n.7836-58C>A) c.7833-58C>A (n.7833-58C>A) c.1288-58C>A n.7919-58C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502822C= | CA2335054716 | RYR1 | c.7836-58C= (n.7836-58C=) c.7833-58C= (n.7833-58C=) c.1288-58C= n.7919-58C= | |
19 | g.38502822C>G | CA308112995 | RYR1 | c.7836-58C>G (n.7836-58C>G) c.7833-58C>G (n.7833-58C>G) c.1288-58C>G n.7919-58C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502822C>T | CA308113015 | RYR1 | c.7836-58C>T (n.7836-58C>T) c.7833-58C>T (n.7833-58C>T) c.1288-58C>T n.7919-58C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502822_38502823del | CA995718727 | RYR1 | c.7836-58_7836-57del (n.7836-58_7836-57del) c.7833-58_7833-57del (n.7833-58_7833-57del) c.1288-58_1288-57del n.7919-58_7919-57del | gnomAD v3 gnomAD v4 |
19 | g.38502823A= | CA2335054719 | RYR1 | c.7836-57A= (n.7836-57A=) c.7833-57A= (n.7833-57A=) c.1288-57A= n.7919-57A= | |
19 | g.38502823A>C | CA882054299 | RYR1 | c.7836-57A>C (n.7836-57A>C) c.7833-57A>C (n.7833-57A>C) c.1288-57A>C n.7919-57A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502823A>G | CA995718761 | RYR1 | c.7836-57A>G (n.7836-57A>G) c.7833-57A>G (n.7833-57A>G) c.1288-57A>G n.7919-57A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502823A>T | CA2335054718 | RYR1 | c.7836-57A>T (n.7836-57A>T) c.7833-57A>T (n.7833-57A>T) c.1288-57A>T n.7919-57A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502823_38502826delinsAGGG | CA2335054717 | RYR1 | c.7836-57_7836-54delinsAGGG (n.7836-57_7836-54delinsAGGG) c.7833-57_7833-54delinsAGGG (n.7833-57_7833-54delinsAGGG) c.1288-57_1288-54delinsAGGG n.7919-57_7919-54delinsAGGG | |
19 | g.38502827_38502828insGAGGGG | CA995718775 | RYR1 | c.7836-53_7836-52insGAGGGG (n.7836-53_7836-52insGAGGGG) c.7833-53_7833-52insGAGGGG (n.7833-53_7833-52insGAGGGG) c.1288-53_1288-52insGAGGGG n.7919-53_7919-52insGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGG | CA633066336 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGG (n.7836-53_7836-52insGAGGGGGAGGGG) c.7833-53_7833-52insGAGGGGGAGGGG (n.7833-53_7833-52insGAGGGGGAGGGG) c.1288-53_1288-52insGAGGGGGAGGGG n.7919-53_7919-52insGAGGGGGAGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGAGCAGGGGGAGGGG | CA995718768 | RYR1 | c.7836-53_7836-52insGAGGAGCAGGGGGAGGGG (n.7836-53_7836-52insGAGGAGCAGGGGGAGGGG) c.7833-53_7833-52insGAGGAGCAGGGGGAGGGG (n.7833-53_7833-52insGAGGAGCAGGGGGAGGGG) c.1288-53_1288-52insGAGGAGCAGGGGGAGGGG n.7919-53_7919-52insGAGGAGCAGGGGGAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGG | CA995718751 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGG | CA2584901058 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGGAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGAGGGAGGGGGAGGGGGAGGGG | CA2584901054 | RYR1 | c.7836-53_7836-52insGAGAGGGAGGGGGAGGGGGAGGGG (n.7836-53_7836-52insGAGAGGGAGGGGGAGGGGGAGGGG) c.7833-53_7833-52insGAGAGGGAGGGGGAGGGGGAGGGG (n.7833-53_7833-52insGAGAGGGAGGGGGAGGGGGAGGGG) c.1288-53_1288-52insGAGAGGGAGGGGGAGGGGGAGGGG n.7919-53_7919-52insGAGAGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584901055 | RYR1 | c.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-53_7836-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-53_7833-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-53_1288-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-53_7919-52insGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG | CA2814347342 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGGAGGGTGAGGGG | |
19 | g.38502827_38502828insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA995718765 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-53_7919-52insGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG | dbSNP gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | CA2584901056 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7836-53_7836-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.7833-53_7833-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG (n.7833-53_7833-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG) c.1288-53_1288-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG n.7919-53_7919-52insGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAG | CA995718779 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGGGCAG | CA995718776 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGGGCAG | gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGCAG | CA2584901067 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGCAG | CA995718782 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGCAG | CA2584901064 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCAG | CA2582145393 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG | CA2814347345 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGCAG | |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA995718780 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG | CA995718777 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG | CA2584901059 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA995718778 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901066 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG | CA2584901068 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901061 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA995718769 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901052 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG | CA2584901057 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901065 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG | CA2584901053 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGTGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901062 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901063 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | CA2584901060 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGCAG | gnomAD v4 |
19 | g.38502824G>A | CA995718816 | RYR1 | c.7836-56G>A (n.7836-56G>A) c.7833-56G>A (n.7833-56G>A) c.1288-56G>A n.7919-56G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502824G>C | CA2584901069 | RYR1 | c.7836-56G>C (n.7836-56G>C) c.7833-56G>C (n.7833-56G>C) c.1288-56G>C n.7919-56G>C | gnomAD v4 |
19 | g.38502824G= | CA2335054721 | RYR1 | c.7836-56G= (n.7836-56G=) c.7833-56G= (n.7833-56G=) c.1288-56G= n.7919-56G= | |
19 | g.38502824G>T | CA2576771136 | RYR1 | c.7836-56G>T (n.7836-56G>T) c.7833-56G>T (n.7833-56G>T) c.1288-56G>T n.7919-56G>T | gnomAD v4 |
19 | g.38502827_38502828insGGGGGG | CA995718793 | RYR1 | c.7836-53_7836-52insGGGGGG (n.7836-53_7836-52insGGGGGG) c.7833-53_7833-52insGGGGGG (n.7833-53_7833-52insGGGGGG) c.1288-53_1288-52insGGGGGG n.7919-53_7919-52insGGGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502827_38502828insGAGGGGGAGGGGCGGGGG | CA995718792 | RYR1 | c.7836-53_7836-52insGAGGGGGAGGGGCGGGGG (n.7836-53_7836-52insGAGGGGGAGGGGCGGGGG) c.7833-53_7833-52insGAGGGGGAGGGGCGGGGG (n.7833-53_7833-52insGAGGGGGAGGGGCGGGGG) c.1288-53_1288-52insGAGGGGGAGGGGCGGGGG n.7919-53_7919-52insGAGGGGGAGGGGCGGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502825_38502827del | CA2335054720 | RYR1 | c.7836-55_7836-53del (n.7836-55_7836-53del) c.7833-55_7833-53del (n.7833-55_7833-53del) c.1288-55_1288-53del n.7919-55_7919-53del | dbSNP |
19 | g.38502830_38502831insGGGCAGGGGCCGGGGCAG | CA2584901071 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCCGGGGCAG (n.7836-50_7836-49insGGGCAGGGGCCGGGGCAG) c.7833-50_7833-49insGGGCAGGGGCCGGGGCAG (n.7833-50_7833-49insGGGCAGGGGCCGGGGCAG) c.1288-50_1288-49insGGGCAGGGGCCGGGGCAG n.7919-50_7919-49insGGGCAGGGGCCGGGGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAGGGGGGGGGGCAG | CA2584901070 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAGGGGGGGGGGCAG (n.7836-50_7836-49insGGGGAGGGGCAGGGGGGGGGGCAG) c.7833-50_7833-49insGGGGAGGGGCAGGGGGGGGGGCAG (n.7833-50_7833-49insGGGGAGGGGCAGGGGGGGGGGCAG) c.1288-50_1288-49insGGGGAGGGGCAGGGGGGGGGGCAG n.7919-50_7919-49insGGGGAGGGGCAGGGGGGGGGGCAG | gnomAD v4 |
19 | g.38502826_38502839del | CA2584901072 | RYR1 | c.7836-54_7836-41del (n.7836-54_7836-41del) c.7833-54_7833-41del (n.7833-54_7833-41del) c.1288-54_1288-41del n.7919-54_7919-41del | gnomAD v4 |
19 | g.38502825G>A | CA882054308 | RYR1 | c.7836-55G>A (n.7836-55G>A) c.7833-55G>A (n.7833-55G>A) c.1288-55G>A n.7919-55G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502825G>C | CA308113024 | RYR1 | c.7836-55G>C (n.7836-55G>C) c.7833-55G>C (n.7833-55G>C) c.1288-55G>C n.7919-55G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502825G= | CA2335054723 | RYR1 | c.7836-55G= (n.7836-55G=) c.7833-55G= (n.7833-55G=) c.1288-55G= n.7919-55G= | |
19 | g.38502825G>T | CA2582145394 | RYR1 | c.7836-55G>T (n.7836-55G>T) c.7833-55G>T (n.7833-55G>T) c.1288-55G>T n.7919-55G>T | gnomAD v3 gnomAD v4 |
19 | g.38502825_38502828delinsGGGC | CA2335054724 | RYR1 | c.7836-55_7836-52delinsGGGC (n.7836-55_7836-52delinsGGGC) c.7833-55_7833-52delinsGGGC (n.7833-55_7833-52delinsGGGC) c.1288-55_1288-52delinsGGGC n.7919-55_7919-52delinsGGGC | |
19 | g.38502826_38502830del | CA2814347346 | RYR1 | c.7836-54_7836-50del (n.7836-54_7836-50del) c.7833-54_7833-50del (n.7833-54_7833-50del) c.1288-54_1288-50del n.7919-54_7919-50del | |
19 | g.38502825_38502834delinsGGGCAGCAGA | CA2335054722 | RYR1 | c.7836-55_7836-46delinsGGGCAGCAGA (n.7836-55_7836-46delinsGGGCAGCAGA) c.7833-55_7833-46delinsGGGCAGCAGA (n.7833-55_7833-46delinsGGGCAGCAGA) c.1288-55_1288-46delinsGGGCAGCAGA n.7919-55_7919-46delinsGGGCAGCAGA | |
19 | g.38502829_38502840del | CA995718822 | RYR1 | c.7836-51_7836-40del (n.7836-51_7836-40del) c.7833-51_7833-40del (n.7833-51_7833-40del) c.1288-51_1288-40del n.7919-51_7919-40del | gnomAD v3 gnomAD v4 |
19 | g.38502826G>A | CA308113029 | RYR1 | c.7836-54G>A (n.7836-54G>A) c.7833-54G>A (n.7833-54G>A) c.1288-54G>A n.7919-54G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502826G>C | CA2584901075 | RYR1 | c.7836-54G>C (n.7836-54G>C) c.7833-54G>C (n.7833-54G>C) c.1288-54G>C n.7919-54G>C | gnomAD v4 |
19 | g.38502826G= | CA2335054725 | RYR1 | c.7836-54G= (n.7836-54G=) c.7833-54G= (n.7833-54G=) c.1288-54G= n.7919-54G= | |
19 | g.38502826G>T | CA2584901074 | RYR1 | c.7836-54G>T (n.7836-54G>T) c.7833-54G>T (n.7833-54G>T) c.1288-54G>T n.7919-54G>T | gnomAD v4 |
19 | g.38502826_38502828del | CA882054313 | RYR1 | c.7836-54_7836-52del (n.7836-54_7836-52del) c.7833-54_7833-52del (n.7833-54_7833-52del) c.1288-54_1288-52del n.7919-54_7919-52del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502826_38502828dup | CA995718845 | RYR1 | c.7836-54_7836-52dup (n.7836-54_7836-52dup) c.7833-54_7833-52dup (n.7833-54_7833-52dup) c.1288-54_1288-52dup n.7919-54_7919-52dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGCGGCAG | CA995718841 | RYR1 | c.7836-50_7836-49insGGGCAGCGGCAG (n.7836-50_7836-49insGGGCAGCGGCAG) c.7833-50_7833-49insGGGCAGCGGCAG (n.7833-50_7833-49insGGGCAGCGGCAG) c.1288-50_1288-49insGGGCAGCGGCAG n.7919-50_7919-49insGGGCAGCGGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502826_38502831del | CA2584901073 | RYR1 | c.7836-54_7836-49del (n.7836-54_7836-49del) c.7833-54_7833-49del (n.7833-54_7833-49del) c.1288-54_1288-49del n.7919-54_7919-49del | gnomAD v4 |
19 | g.38502826_38502831dup | CA633066337 | RYR1 | c.7836-54_7836-49dup (n.7836-54_7836-49dup) c.7833-54_7833-49dup (n.7833-54_7833-49dup) c.1288-54_1288-49dup n.7919-54_7919-49dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502827_38502835del | CA995718842 | RYR1 | c.7836-53_7836-45del (n.7836-53_7836-45del) c.7833-53_7833-45del (n.7833-53_7833-45del) c.1288-53_1288-45del n.7919-53_7919-45del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502828_38502838del | CA995718840 | RYR1 | c.7836-52_7836-42del (n.7836-52_7836-42del) c.7833-52_7833-42del (n.7833-52_7833-42del) c.1288-52_1288-42del n.7919-52_7919-42del | gnomAD v3 gnomAD v4 |
19 | g.38502827G>A | CA308113035 | RYR1 | c.7836-53G>A (n.7836-53G>A) c.7833-53G>A (n.7833-53G>A) c.1288-53G>A n.7919-53G>A | dbSNP gnomAD v4 |
19 | g.38502827G>C | CA2584901077 | RYR1 | c.7836-53G>C (n.7836-53G>C) c.7833-53G>C (n.7833-53G>C) c.1288-53G>C n.7919-53G>C | gnomAD v4 |
19 | g.38502827G= | CA2335054727 | RYR1 | c.7836-53G= (n.7836-53G=) c.7833-53G= (n.7833-53G=) c.1288-53G= n.7919-53G= | |
19 | g.38502827G>T | CA2584901076 | RYR1 | c.7836-53G>T (n.7836-53G>T) c.7833-53G>T (n.7833-53G>T) c.1288-53G>T n.7919-53G>T | gnomAD v4 |
19 | g.38502827_38502828insGAG | CA2584901081 | RYR1 | c.7836-53_7836-52insGAG (n.7836-53_7836-52insGAG) c.7833-53_7833-52insGAG (n.7833-53_7833-52insGAG) c.1288-53_1288-52insGAG n.7919-53_7919-52insGAG | gnomAD v4 |
19 | g.38502827_38502828insGAGGAG | CA2584901078 | RYR1 | c.7836-53_7836-52insGAGGAG (n.7836-53_7836-52insGAGGAG) c.7833-53_7833-52insGAGGAG (n.7833-53_7833-52insGAGGAG) c.1288-53_1288-52insGAGGAG n.7919-53_7919-52insGAGGAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGCAGCAG | CA995718847 | RYR1 | c.7836-50_7836-49insGGGCAGCAGCAG (n.7836-50_7836-49insGGGCAGCAGCAG) c.7833-50_7833-49insGGGCAGCAGCAG (n.7833-50_7833-49insGGGCAGCAGCAG) c.1288-50_1288-49insGGGCAGCAGCAG n.7919-50_7919-49insGGGCAGCAGCAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGAGCAG | CA2584901084 | RYR1 | c.7836-50_7836-49insGGGCAGGAGCAG (n.7836-50_7836-49insGGGCAGGAGCAG) c.7833-50_7833-49insGGGCAGGAGCAG (n.7833-50_7833-49insGGGCAGGAGCAG) c.1288-50_1288-49insGGGCAGGAGCAG n.7919-50_7919-49insGGGCAGGAGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGAGCAG | CA2584901079 | RYR1 | c.7836-50_7836-49insGGGGAGGAGCAG (n.7836-50_7836-49insGGGGAGGAGCAG) c.7833-50_7833-49insGGGGAGGAGCAG (n.7833-50_7833-49insGGGGAGGAGCAG) c.1288-50_1288-49insGGGGAGGAGCAG n.7919-50_7919-49insGGGGAGGAGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGCAGCAG | CA2584901082 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGCAGCAG (n.7836-50_7836-49insGGGCAGGGGCAGCAGCAG) c.7833-50_7833-49insGGGCAGGGGCAGCAGCAG (n.7833-50_7833-49insGGGCAGGGGCAGCAGCAG) c.1288-50_1288-49insGGGCAGGGGCAGCAGCAG n.7919-50_7919-49insGGGCAGGGGCAGCAGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAGGAGCAG | CA2584901080 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAGGAGCAG (n.7836-50_7836-49insGGGCAGGGGGAGGAGCAG) c.7833-50_7833-49insGGGCAGGGGGAGGAGCAG (n.7833-50_7833-49insGGGCAGGGGGAGGAGCAG) c.1288-50_1288-49insGGGCAGGGGGAGGAGCAG n.7919-50_7919-49insGGGCAGGGGGAGGAGCAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG | CA2584901083 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAG | gnomAD v4 |
19 | g.38502828_38502833dup | CA2335054726 | RYR1 | c.7836-52_7836-47dup (n.7836-52_7836-47dup) c.7833-52_7833-47dup (n.7833-52_7833-47dup) c.1288-52_1288-47dup n.7919-52_7919-47dup | dbSNP gnomAD v4 |
19 | g.38502831_38502833del | CA995718850 | RYR1 | c.7836-49_7836-47del (n.7836-49_7836-47del) c.7833-49_7833-47del (n.7833-49_7833-47del) c.1288-49_1288-47del n.7919-49_7919-47del | gnomAD v3 gnomAD v4 |
19 | g.38502828C>A | CA2335054730 | RYR1 | c.7836-52C>A (n.7836-52C>A) c.7833-52C>A (n.7833-52C>A) c.1288-52C>A n.7919-52C>A | dbSNP gnomAD v4 |
19 | g.38502828C= | CA2335054729 | RYR1 | c.7836-52C= (n.7836-52C=) c.7833-52C= (n.7833-52C=) c.1288-52C= n.7919-52C= | |
19 | g.38502828C>G | CA308113042 | RYR1 | c.7836-52C>G (n.7836-52C>G) c.7833-52C>G (n.7833-52C>G) c.1288-52C>G n.7919-52C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502828C>T | CA2335054728 | RYR1 | c.7836-52C>T (n.7836-52C>T) c.7833-52C>T (n.7833-52C>T) c.1288-52C>T n.7919-52C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502828_38502829del | CA2582145395 | RYR1 | c.7836-52_7836-51del (n.7836-52_7836-51del) c.7833-52_7833-51del (n.7833-52_7833-51del) c.1288-52_1288-51del n.7919-52_7919-51del | gnomAD v3 gnomAD v4 |
19 | g.38502828_38502832del | CA633066338 | RYR1 | c.7836-52_7836-48del (n.7836-52_7836-48del) c.7833-52_7833-48del (n.7833-52_7833-48del) c.1288-52_1288-48del n.7919-52_7919-48del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502829A= | CA2335054731 | RYR1 | c.7836-51A= (n.7836-51A=) c.7833-51A= (n.7833-51A=) c.1288-51A= n.7919-51A= | |
19 | g.38502829A>C | CA2584901089 | RYR1 | c.7836-51A>C (n.7836-51A>C) c.7833-51A>C (n.7833-51A>C) c.1288-51A>C n.7919-51A>C | dbSNP gnomAD v4 |
19 | g.38502829A>T | CA2519413435 | RYR1 | c.7836-51A>T (n.7836-51A>T) c.7833-51A>T (n.7833-51A>T) c.1288-51A>T n.7919-51A>T | |
19 | g.38502830_38502831insGGGGAG | CA995718869 | RYR1 | c.7836-50_7836-49insGGGGAG (n.7836-50_7836-49insGGGGAG) c.7833-50_7833-49insGGGGAG (n.7833-50_7833-49insGGGGAG) c.1288-50_1288-49insGGGGAG n.7919-50_7919-49insGGGGAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGTAG | CA2584901088 | RYR1 | c.7836-50_7836-49insGGGTAG (n.7836-50_7836-49insGGGTAG) c.7833-50_7833-49insGGGTAG (n.7833-50_7833-49insGGGTAG) c.1288-50_1288-49insGGGTAG n.7919-50_7919-49insGGGTAG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGAG | CA995718873 | RYR1 | c.7836-50_7836-49insGGGGAGGAG (n.7836-50_7836-49insGGGGAGGAG) c.7833-50_7833-49insGGGGAGGAG (n.7833-50_7833-49insGGGGAGGAG) c.1288-50_1288-49insGGGGAGGAG n.7919-50_7919-49insGGGGAGGAG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGGAG | CA2584901087 | RYR1 | c.7836-50_7836-49insGGGCAGGGGGAG (n.7836-50_7836-49insGGGCAGGGGGAG) c.7833-50_7833-49insGGGCAGGGGGAG (n.7833-50_7833-49insGGGCAGGGGGAG) c.1288-50_1288-49insGGGCAGGGGGAG n.7919-50_7919-49insGGGCAGGGGGAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGGAG | CA2584901086 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGGAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGGAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGGAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGGAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGGAG n.7919-50_7919-49insGGGCAGGGGCAGGGGGAG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG | CA2584901085 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGGAG | gnomAD v4 |
19 | g.38502829_38502847delinsAGCAGAGCGGGCCTGGACG | CA2335054732 | RYR1 | c.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG (n.7836-51_7836-33delinsAGCAGAGCGGGCCTGGACG) c.7833-51_7833-33delinsAGCAGAGCGGGCCTGGACG (n.7833-51_7833-33delinsAGCAGAGCGGGCCTGGACG) c.1288-51_1288-33delinsAGCAGAGCGGGCCTGGACG n.7919-51_7919-33delinsAGCAGAGCGGGCCTGGACG | |
19 | g.38502830G>A | CA995718879 | RYR1 | c.7836-50G>A (n.7836-50G>A) c.7833-50G>A (n.7833-50G>A) c.1288-50G>A n.7919-50G>A | dbSNP gnomAD v4 |
19 | g.38502830G>C | CA2584901095 | RYR1 | c.7836-50G>C (n.7836-50G>C) c.7833-50G>C (n.7833-50G>C) c.1288-50G>C n.7919-50G>C | gnomAD v4 |
19 | g.38502830G= | CA2335054734 | RYR1 | c.7836-50G= (n.7836-50G=) c.7833-50G= (n.7833-50G=) c.1288-50G= n.7919-50G= | |
19 | g.38502830G>T | CA2584901096 | RYR1 | c.7836-50G>T (n.7836-50G>T) c.7833-50G>T (n.7833-50G>T) c.1288-50G>T n.7919-50G>T | gnomAD v4 |
19 | g.38502830_38502831insGGG | CA633066339 | RYR1 | c.7836-50_7836-49insGGG (n.7836-50_7836-49insGGG) c.7833-50_7833-49insGGG (n.7833-50_7833-49insGGG) c.1288-50_1288-49insGGG n.7919-50_7919-49insGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCCG | CA2735916232 | RYR1 | c.7836-50_7836-49insGGGCCG (n.7836-50_7836-49insGGGCCG) c.7833-50_7833-49insGGGCCG (n.7833-50_7833-49insGGGCCG) c.1288-50_1288-49insGGGCCG n.7919-50_7919-49insGGGCCG | dbSNP |
19 | g.38502830_38502831insGGGGAGG | CA995718904 | RYR1 | c.7836-50_7836-49insGGGGAGG (n.7836-50_7836-49insGGGGAGG) c.7833-50_7833-49insGGGGAGG (n.7833-50_7833-49insGGGGAGG) c.1288-50_1288-49insGGGGAGG n.7919-50_7919-49insGGGGAGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGG | CA995718912 | RYR1 | c.7836-50_7836-49insGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGG) c.7833-50_7833-49insGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGG) c.1288-50_1288-49insGGGCAGGGG n.7919-50_7919-49insGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGG | CA633066341 | RYR1 | c.7836-50_7836-49insGGGGAGGGG (n.7836-50_7836-49insGGGGAGGGG) c.7833-50_7833-49insGGGGAGGGG (n.7833-50_7833-49insGGGGAGGGG) c.1288-50_1288-49insGGGGAGGGG n.7919-50_7919-49insGGGGAGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGGGGGG | CA2584901093 | RYR1 | c.7836-50_7836-49insGGGGGGGGG (n.7836-50_7836-49insGGGGGGGGG) c.7833-50_7833-49insGGGGGGGGG (n.7833-50_7833-49insGGGGGGGGG) c.1288-50_1288-49insGGGGGGGGG n.7919-50_7919-49insGGGGGGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGG | CA2584901090 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGG (n.7836-50_7836-49insGGGGAGGGGGAGG) c.7833-50_7833-49insGGGGAGGGGGAGG (n.7833-50_7833-49insGGGGAGGGGGAGG) c.1288-50_1288-49insGGGGAGGGGGAGG n.7919-50_7919-49insGGGGAGGGGGAGG | gnomAD v4 |
19 | g.38502830_38502831insGGAGAGGAGCAGGGG | CA995718921 | RYR1 | c.7836-50_7836-49insGGAGAGGAGCAGGGG (n.7836-50_7836-49insGGAGAGGAGCAGGGG) c.7833-50_7833-49insGGAGAGGAGCAGGGG (n.7833-50_7833-49insGGAGAGGAGCAGGGG) c.1288-50_1288-49insGGAGAGGAGCAGGGG n.7919-50_7919-49insGGAGAGGAGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGG | CA633066343 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGG) c.7833-50_7833-49insGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGG) c.1288-50_1288-49insGGGCAGGGGCAGGGG n.7919-50_7919-49insGGGCAGGGGCAGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGAGCAGGGG | CA2584901097 | RYR1 | c.7836-50_7836-49insGGGGAGGAGCAGGGG (n.7836-50_7836-49insGGGGAGGAGCAGGGG) c.7833-50_7833-49insGGGGAGGAGCAGGGG (n.7833-50_7833-49insGGGGAGGAGCAGGGG) c.1288-50_1288-49insGGGGAGGAGCAGGGG n.7919-50_7919-49insGGGGAGGAGCAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGCAGGGG | CA2584901099 | RYR1 | c.7836-50_7836-49insGGGGAGGGGCAGGGG (n.7836-50_7836-49insGGGGAGGGGCAGGGG) c.7833-50_7833-49insGGGGAGGGGCAGGGG (n.7833-50_7833-49insGGGGAGGGGCAGGGG) c.1288-50_1288-49insGGGGAGGGGCAGGGG n.7919-50_7919-49insGGGGAGGGGCAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGG | CA2584901091 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGG) c.7833-50_7833-49insGGGGAGGGGGAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGG) c.1288-50_1288-49insGGGGAGGGGGAGGGG n.7919-50_7919-49insGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGCAGGGG | CA995718888 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGGCAGGGG) c.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGGCAGGGG) c.1288-50_1288-49insGGGGAGGGGGAGGGGCAGGGG n.7919-50_7919-49insGGGGAGGGGGAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGG | CA633066344 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGG | CA2584901092 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGGAGGGG | CA633066345 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGGAGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA995718910 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGG | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA633066340 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v2 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | CA2535606458 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG | gnomAD v4 |
19 | g.38502830_38502831insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | CA2505809630 | RYR1 | c.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7836-50_7836-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG (n.7833-50_7833-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG) c.1288-50_1288-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG n.7919-50_7919-49insGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGGAGGAGCAGGGG | |
19 | g.38502830_38502831insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | CA995718882 | RYR1 | c.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7836-50_7836-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG (n.7833-50_7833-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG) c.1288-50_1288-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG n.7919-50_7919-49insGGGGAGGGGGAGGGGGAGGGGCAGGGGGAGGGGGAGGGGCAGGGG | gnomAD v3 gnomAD v4 |
19 | g.38502830dup | CA2584901098 | RYR1 | c.7836-50dup (n.7836-50dup) c.7833-50dup (n.7833-50dup) c.1288-50dup n.7919-50dup | gnomAD v4 |
19 | g.38502830_38502832delinsGCA | CA2335054733 | RYR1 | c.7836-50_7836-48delinsGCA (n.7836-50_7836-48delinsGCA) c.7833-50_7833-48delinsGCA (n.7833-50_7833-48delinsGCA) c.1288-50_1288-48delinsGCA n.7919-50_7919-48delinsGCA | |
19 | g.38502830_38502836delinsGCAGAGC | CA2335054735 | RYR1 | c.7836-50_7836-44delinsGCAGAGC (n.7836-50_7836-44delinsGCAGAGC) c.7833-50_7833-44delinsGCAGAGC (n.7833-50_7833-44delinsGCAGAGC) c.1288-50_1288-44delinsGCAGAGC n.7919-50_7919-44delinsGCAGAGC | |
19 | g.38502831_38502847del | CA2584901094 | RYR1 | c.7836-49_7836-33del (n.7836-49_7836-33del) c.7833-49_7833-33del (n.7833-49_7833-33del) c.1288-49_1288-33del n.7919-49_7919-33del | gnomAD v4 |
19 | g.38502831_38502848del | CA633066342 | RYR1 | c.7836-49_7836-32del (n.7836-49_7836-32del) c.7833-49_7833-32del (n.7833-49_7833-32del) c.1288-49_1288-32del n.7919-49_7919-32del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502831del | CA633066346 | RYR1 | c.7836-49del (n.7836-49del) c.7833-49del (n.7833-49del) c.1288-49del n.7919-49del | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502831C>A | CA2584901100 | RYR1 | c.7836-49C>A (n.7836-49C>A) c.7833-49C>A (n.7833-49C>A) c.1288-49C>A n.7919-49C>A | gnomAD v4 |
19 | g.38502831C= | CA2335054736 | RYR1 | c.7836-49C= (n.7836-49C=) c.7833-49C= (n.7833-49C=) c.1288-49C= n.7919-49C= | |
19 | g.38502831C>G | CA070714 | RYR1 | c.7836-49C>G (n.7836-49C>G) c.7833-49C>G (n.7833-49C>G) c.1288-49C>G n.7919-49C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502831C>T | CA070720 | RYR1 | c.7836-49C>T (n.7836-49C>T) c.7833-49C>T (n.7833-49C>T) c.1288-49C>T n.7919-49C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502831_38502832del | CA633066347 | RYR1 | c.7836-49_7836-48del (n.7836-49_7836-48del) c.7833-49_7833-48del (n.7833-49_7833-48del) c.1288-49_1288-48del n.7919-49_7919-48del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502831_38502834delinsCAGA | CA2335054737 | RYR1 | c.7836-49_7836-46delinsCAGA (n.7836-49_7836-46delinsCAGA) c.7833-49_7833-46delinsCAGA (n.7833-49_7833-46delinsCAGA) c.1288-49_1288-46delinsCAGA n.7919-49_7919-46delinsCAGA | |
19 | g.38502831_38502836del | CA633066348 | RYR1 | c.7836-49_7836-44del (n.7836-49_7836-44del) c.7833-49_7833-44del (n.7833-49_7833-44del) c.1288-49_1288-44del n.7919-49_7919-44del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502831_38502846del | CA995718931 | RYR1 | c.7836-49_7836-34del (n.7836-49_7836-34del) c.7833-49_7833-34del (n.7833-49_7833-34del) c.1288-49_1288-34del n.7919-49_7919-34del | gnomAD v3 gnomAD v4 |