Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38502611_38502660dup | CA2697556551 | RYR1 | c.7719_7768dup (p.Ser2590TyrfsTer?) c.7716_7765dup (p.Ser2589TyrfsTer?) c.1171_1220dup n.7802_7851dup | ClinVar |
19 | g.38502655G>A | CA070185 | RYR1 | c.7763G>A (p.Arg2588His) c.7760G>A (p.Arg2587His) c.1215G>A n.7846G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502655G>C | CA405672005 | RYR1 | c.7763G>C (p.Arg2588Pro) c.7760G>C (p.Arg2587Pro) c.1215G>C n.7846G>C | ClinVar gnomAD v4 |
19 | g.38502655G= | CA2335054398 | RYR1 | c.7763G= (p.Arg2588=) c.7760G= (p.Arg2587=) c.1215G= n.7846G= | |
19 | g.38502655G>T | CA405672008 | RYR1 | c.7763G>T (p.Arg2588Leu) c.7760G>T (p.Arg2587Leu) c.1215G>T n.7846G>T | gnomAD v4 |
19 | g.38502656C>A | CA507243850 | RYR1 | c.7764C>A (p.Arg2588=) c.7761C>A (p.Arg2587=) c.1216C>A n.7847C>A | |
19 | g.38502656C= | CA2335054399 | RYR1 | c.7764C= (p.Arg2588=) c.7761C= (p.Arg2587=) c.1216C= n.7847C= | |
19 | g.38502656C>G | CA507243852 | RYR1 | c.7764C>G (p.Arg2588=) c.7761C>G (p.Arg2587=) c.1216C>G n.7847C>G | |
19 | g.38502656C>T | CA082604 | RYR1 | c.7764C>T (p.Arg2588=) c.7761C>T (p.Arg2587=) c.1216C>T n.7847C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502657C>A | CA405672012 | RYR1 | c.7765C>A (p.Leu2589Met) c.7762C>A (p.Leu2588Met) c.1217C>A n.7848C>A | gnomAD v4 |
19 | g.38502657C= | CA2335054400 | RYR1 | c.7765C= (p.Leu2589=) c.7762C= (p.Leu2588=) c.1217C= n.7848C= | |
19 | g.38502657C>G | CA082606 | RYR1 | c.7765C>G (p.Leu2589Val) c.7762C>G (p.Leu2588Val) c.1217C>G n.7848C>G | |
19 | g.38502657C>T | CA070189 | RYR1 | c.7765C>T (p.Leu2589=) c.7762C>T (p.Leu2588=) c.1217C>T n.7848C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502658T>A | CA405672015 | RYR1 | c.7766T>A (p.Leu2589Gln) c.7763T>A (p.Leu2588Gln) c.1218T>A n.7849T>A | |
19 | g.38502658T>C | CA405672021 | RYR1 | c.7766T>C (p.Leu2589Pro) c.7763T>C (p.Leu2588Pro) c.1218T>C n.7849T>C | gnomAD v4 |
19 | g.38502658T>G | CA405672025 | RYR1 | c.7766T>G (p.Leu2589Arg) c.7763T>G (p.Leu2588Arg) c.1218T>G n.7849T>G | |
19 | g.38502659G>A | CA070193 | RYR1 | c.7767G>A (p.Leu2589=) c.7764G>A (p.Leu2588=) c.1219G>A n.7850G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502659G>C | CA507243859 | RYR1 | c.7767G>C (p.Leu2589=) c.7764G>C (p.Leu2588=) c.1219G>C n.7850G>C | ClinVar dbSNP |
19 | g.38502659G= | CA2335054401 | RYR1 | c.7767G= (p.Leu2589=) c.7764G= (p.Leu2588=) c.1219G= n.7850G= | |
19 | g.38502659G>T | CA507243860 | RYR1 | c.7767G>T (p.Leu2589=) c.7764G>T (p.Leu2588=) c.1219G>T n.7850G>T | |
19 | g.38502660T>A | CA405672038 | RYR1 | c.7768T>A (p.Ser2590Thr) c.7765T>A (p.Ser2589Thr) c.1220T>A n.7851T>A | |
19 | g.38502660T>C | CA405672031 | RYR1 | c.7768T>C (p.Ser2590Pro) c.7765T>C (p.Ser2589Pro) c.1220T>C n.7851T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502660T>G | CA405672035 | RYR1 | c.7768T>G (p.Ser2590Ala) c.7765T>G (p.Ser2589Ala) c.1220T>G n.7851T>G | |
19 | g.38502660T= | CA2335054402 | RYR1 | c.7768T= (p.Ser2590=) c.7765T= (p.Ser2589=) c.1220T= n.7851T= | |
19 | g.38502661C>A | CA405672041 | RYR1 | c.7769C>A (p.Ser2590Tyr) c.7766C>A (p.Ser2589Tyr) c.1221C>A n.7852C>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502661C= | CA2335054403 | RYR1 | c.7769C= (p.Ser2590=) c.7766C= (p.Ser2589=) c.1221C= n.7852C= | |
19 | g.38502661C>G | CA405672043 | RYR1 | c.7769C>G (p.Ser2590Cys) c.7766C>G (p.Ser2589Cys) c.1221C>G n.7852C>G | dbSNP gnomAD v4 |
19 | g.38502661C>T | CA070200 | RYR1 | c.7769C>T (p.Ser2590Phe) c.7766C>T (p.Ser2589Phe) c.1221C>T n.7852C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502662T>A | CA507243864 | RYR1 | c.7770T>A (p.Ser2590=) c.7767T>A (p.Ser2589=) c.1222T>A n.7853T>A | |
19 | g.38502662T>C | CA507243866 | RYR1 | c.7770T>C (p.Ser2590=) c.7767T>C (p.Ser2589=) c.1222T>C n.7853T>C | gnomAD v4 |
19 | g.38502662T>G | CA507243865 | RYR1 | c.7770T>G (p.Ser2590=) c.7767T>G (p.Ser2589=) c.1222T>G n.7853T>G | gnomAD v4 |
19 | g.38502662dup | CA2697556553 | RYR1 | c.7770dup (p.Arg2591SerfsTer11) c.7767dup (p.Arg2590SerfsTer11) c.1222dup n.7853dup | ClinVar |
19 | g.38502662_38502678dup | CA2573054756 | RYR1 | c.7770_7786dup (p.Thr2596IlefsTer?) c.7767_7783dup (p.Thr2595IlefsTer?) c.1222_1238dup n.7853_7869dup | ClinVar dbSNP |
19 | g.38502663C>A | CA507243869 | RYR1 | c.7771C>A (p.Arg2591=) c.7768C>A (p.Arg2590=) c.1223C>A n.7854C>A | gnomAD v4 |
19 | g.38502663C= | CA2335054404 | RYR1 | c.7771C= (p.Arg2591=) c.7768C= (p.Arg2590=) c.1223C= n.7854C= | |
19 | g.38502663C>G | CA024847 | RYR1 | c.7771C>G (p.Arg2591Gly) c.7768C>G (p.Arg2590Gly) c.1223C>G n.7854C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502663C>T | CA024850 | RYR1 | c.7771C>T (p.Arg2591Trp) c.7768C>T (p.Arg2590Trp) c.1223C>T n.7854C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502664G>A | CA405672050 | RYR1 | c.7772G>A (p.Arg2591Gln) c.7769G>A (p.Arg2590Gln) c.1224G>A n.7855G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502664G>C | CA070207 | RYR1 | c.7772G>C (p.Arg2591Pro) c.7769G>C (p.Arg2590Pro) c.1224G>C n.7855G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502664G= | CA2335054405 | RYR1 | c.7772G= (p.Arg2591=) c.7769G= (p.Arg2590=) c.1224G= n.7855G= | |
19 | g.38502664G>T | CA070209 | RYR1 | c.7772G>T (p.Arg2591Leu) c.7769G>T (p.Arg2590Leu) c.1224G>T n.7855G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502667dup | CA633066648 | RYR1 | c.7775dup (p.Arg2593SerfsTer9) c.7772dup (p.Arg2592SerfsTer9) c.1227dup n.7858dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502667del | CA2584900600 | RYR1 | c.7775del (p.Gly2592ValfsTer?) c.7772del (p.Gly2591ValfsTer?) c.1227del n.7858del | gnomAD v4 |
19 | g.38502665G>A | CA507243874 | RYR1 | c.7773G>A (p.Arg2591=) c.7770G>A (p.Arg2590=) c.1225G>A n.7856G>A | gnomAD v4 |
19 | g.38502665G>C | CA507243875 | RYR1 | c.7773G>C (p.Arg2591=) c.7770G>C (p.Arg2590=) c.1225G>C n.7856G>C | |
19 | g.38502665G>T | CA507243876 | RYR1 | c.7773G>T (p.Arg2591=) c.7770G>T (p.Arg2590=) c.1225G>T n.7856G>T | gnomAD v4 |
19 | g.38502666G>A | CA405672051 | RYR1 | c.7774G>A (p.Gly2592Ser) c.7771G>A (p.Gly2591Ser) c.1226G>A n.7857G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502666G>C | CA405672053 | RYR1 | c.7774G>C (p.Gly2592Arg) c.7771G>C (p.Gly2591Arg) c.1226G>C n.7857G>C | ClinVar COSMIC |
19 | g.38502666G= | CA2335054406 | RYR1 | c.7774G= (p.Gly2592=) c.7771G= (p.Gly2591=) c.1226G= n.7857G= | |
19 | g.38502666G>T | CA405672055 | RYR1 | c.7774G>T (p.Gly2592Cys) c.7771G>T (p.Gly2591Cys) c.1226G>T n.7857G>T | gnomAD v4 |
19 | g.38502667G>A | CA405672059 | RYR1 | c.7775G>A (p.Gly2592Asp) c.7772G>A (p.Gly2591Asp) c.1227G>A n.7858G>A | gnomAD v4 |
19 | g.38502667G>C | CA082618 | RYR1 | c.7775G>C (p.Gly2592Ala) c.7772G>C (p.Gly2591Ala) c.1227G>C n.7858G>C | |
19 | g.38502667G>T | CA082620 | RYR1 | c.7775G>T (p.Gly2592Val) c.7772G>T (p.Gly2591Val) c.1227G>T n.7858G>T | gnomAD v4 |
19 | g.38502668T>A | CA507243882 | RYR1 | c.7776T>A (p.Gly2592=) c.7773T>A (p.Gly2591=) c.1228T>A n.7859T>A | |
19 | g.38502668T>C | CA070214 | RYR1 | c.7776T>C (p.Gly2592=) c.7773T>C (p.Gly2591=) c.1228T>C n.7859T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502668T>G | CA507243883 | RYR1 | c.7776T>G (p.Gly2592=) c.7773T>G (p.Gly2591=) c.1228T>G n.7859T>G | gnomAD v3 gnomAD v4 |
19 | g.38502668T= | CA2335054407 | RYR1 | c.7776T= (p.Gly2592=) c.7773T= (p.Gly2591=) c.1228T= n.7859T= | |
19 | g.38502669C>A | CA405672064 | RYR1 | c.7777C>A (p.Arg2593Ser) c.7774C>A (p.Arg2592Ser) c.1229C>A n.7860C>A | |
19 | g.38502669C= | CA2335054408 | RYR1 | c.7777C= (p.Arg2593=) c.7774C= (p.Arg2592=) c.1229C= n.7860C= | |
19 | g.38502669C>G | CA405672067 | RYR1 | c.7777C>G (p.Arg2593Gly) c.7774C>G (p.Arg2592Gly) c.1229C>G n.7860C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502669C>T | CA070217 | RYR1 | c.7777C>T (p.Arg2593Cys) c.7774C>T (p.Arg2592Cys) c.1229C>T n.7860C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502670G>A | CA070222 | RYR1 | c.7778G>A (p.Arg2593His) c.7775G>A (p.Arg2592His) c.1230G>A n.7861G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502670G>C | CA405672083 | RYR1 | c.7778G>C (p.Arg2593Pro) c.7775G>C (p.Arg2592Pro) c.1230G>C n.7861G>C | |
19 | g.38502670G= | CA2335054409 | RYR1 | c.7778G= (p.Arg2593=) c.7775G= (p.Arg2592=) c.1230G= n.7861G= | |
19 | g.38502670G>T | CA405672085 | RYR1 | c.7778G>T (p.Arg2593Leu) c.7775G>T (p.Arg2592Leu) c.1230G>T n.7861G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502671T>A | CA507243889 | RYR1 | c.7779T>A (p.Arg2593=) c.7776T>A (p.Arg2592=) c.1231T>A n.7862T>A | |
19 | g.38502671T>C | CA082622 | RYR1 | c.7779T>C (p.Arg2593=) c.7776T>C (p.Arg2592=) c.1231T>C n.7862T>C | |
19 | g.38502671T>G | CA507243888 | RYR1 | c.7779T>G (p.Arg2593=) c.7776T>G (p.Arg2592=) c.1231T>G n.7862T>G | |
19 | g.38502672T>A | CA405672110 | RYR1 | c.7780T>A (p.Ser2594Thr) c.7777T>A (p.Ser2593Thr) c.1232T>A n.7863T>A | |
19 | g.38502672T>C | CA405672096 | RYR1 | c.7780T>C (p.Ser2594Pro) c.7777T>C (p.Ser2593Pro) c.1232T>C n.7863T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502672T>G | CA405672099 | RYR1 | c.7780T>G (p.Ser2594Ala) c.7777T>G (p.Ser2593Ala) c.1232T>G n.7863T>G | |
19 | g.38502672T= | CA2335054410 | RYR1 | c.7780T= (p.Ser2594=) c.7777T= (p.Ser2593=) c.1232T= n.7863T= | |
19 | g.38502673C>A | CA405672113 | RYR1 | c.7781C>A (p.Ser2594Ter) c.7778C>A (p.Ser2593Ter) c.1233C>A n.7864C>A | |
19 | g.38502673C= | CA2335054411 | RYR1 | c.7781C= (p.Ser2594=) c.7778C= (p.Ser2593=) c.1233C= n.7864C= | |
19 | g.38502673C>G | CA405672116 | RYR1 | c.7781C>G (p.Ser2594Trp) c.7778C>G (p.Ser2593Trp) c.1233C>G n.7864C>G | |
19 | g.38502673C>T | CA070231 | RYR1 | c.7781C>T (p.Ser2594Leu) c.7778C>T (p.Ser2593Leu) c.1233C>T n.7864C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502674G>A | CA507243893 | RYR1 | c.7782G>A (p.Ser2594=) c.7779G>A (p.Ser2593=) c.1234G>A n.7865G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502674G>C | CA070232 | RYR1 | c.7782G>C (p.Ser2594=) c.7779G>C (p.Ser2593=) c.1234G>C n.7865G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502674G= | CA2335054412 | RYR1 | c.7782G= (p.Ser2594=) c.7779G= (p.Ser2593=) c.1234G= n.7865G= | |
19 | g.38502674G>T | CA507243894 | RYR1 | c.7782G>T (p.Ser2594=) c.7779G>T (p.Ser2593=) c.1234G>T n.7865G>T | gnomAD v4 |
19 | g.38502675C>A | CA405672122 | RYR1 | c.7783C>A (p.Leu2595Ile) c.7780C>A (p.Leu2594Ile) c.1235C>A n.7866C>A | |
19 | g.38502675C= | CA2335054413 | RYR1 | c.7783C= (p.Leu2595=) c.7780C= (p.Leu2594=) c.1235C= n.7866C= | |
19 | g.38502675C>G | CA405672125 | RYR1 | c.7783C>G (p.Leu2595Val) c.7780C>G (p.Leu2594Val) c.1235C>G n.7866C>G | |
19 | g.38502675C>T | CA405672126 | RYR1 | c.7783C>T (p.Leu2595Phe) c.7780C>T (p.Leu2594Phe) c.1235C>T n.7866C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502675_38502683delinsCTCACCAAG | CA2335054414 | RYR1 | c.7783_7791delinsCTCACCAAG (p.Leu2595=) c.7780_7788delinsCTCACCAAG (p.Leu2594=) c.1235_1243delinsCTCACCAAG n.7866_7874delinsCTCACCAAG | |
19 | g.38502676T>A | CA405672129 | RYR1 | c.7784T>A (p.Leu2595His) c.7781T>A (p.Leu2594His) c.1236T>A n.7867T>A | gnomAD v4 |
19 | g.38502676T>C | CA405672132 | RYR1 | c.7784T>C (p.Leu2595Pro) c.7781T>C (p.Leu2594Pro) c.1236T>C n.7867T>C | gnomAD v4 |
19 | g.38502676T>G | CA405672131 | RYR1 | c.7784T>G (p.Leu2595Arg) c.7781T>G (p.Leu2594Arg) c.1236T>G n.7867T>G | |
19 | g.38502676_38502683del | CA915952998 | RYR1 | c.7784_7791del (p.Leu2595ArgfsTer4) c.7781_7788del (p.Leu2594ArgfsTer4) c.1236_1243del n.7867_7874del | ClinVar dbSNP gnomAD v4 |
19 | g.38502677C>A | CA507243897 | RYR1 | c.7785C>A (p.Leu2595=) c.7782C>A (p.Leu2594=) c.1237C>A n.7868C>A | |
19 | g.38502677C= | CA2335054415 | RYR1 | c.7785C= (p.Leu2595=) c.7782C= (p.Leu2594=) c.1237C= n.7868C= | |
19 | g.38502677C>G | CA507243900 | RYR1 | c.7785C>G (p.Leu2595=) c.7782C>G (p.Leu2594=) c.1237C>G n.7868C>G | |
19 | g.38502677C>T | CA070237 | RYR1 | c.7785C>T (p.Leu2595=) c.7782C>T (p.Leu2594=) c.1237C>T n.7868C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502678A>C | CA405672147 | RYR1 | c.7786A>C (p.Thr2596Pro) c.7783A>C (p.Thr2595Pro) c.1238A>C n.7869A>C | |
19 | g.38502678A>G | CA405672149 | RYR1 | c.7786A>G (p.Thr2596Ala) c.7783A>G (p.Thr2595Ala) c.1238A>G n.7869A>G | gnomAD v4 |
19 | g.38502678A>T | CA405672150 | RYR1 | c.7786A>T (p.Thr2596Ser) c.7783A>T (p.Thr2595Ser) c.1238A>T n.7869A>T | |
19 | g.38502679C>A | CA405672156 | RYR1 | c.7787C>A (p.Thr2596Asn) c.7784C>A (p.Thr2595Asn) c.1239C>A n.7870C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502679C= | CA2335054416 | RYR1 | c.7787C= (p.Thr2596=) c.7784C= (p.Thr2595=) c.1239C= n.7870C= | |
19 | g.38502679C>G | CA070243 | RYR1 | c.7787C>G (p.Thr2596Ser) c.7784C>G (p.Thr2595Ser) c.1239C>G n.7870C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502679C>T | CA024853 | RYR1 | c.7787C>T (p.Thr2596Ile) c.7784C>T (p.Thr2595Ile) c.1239C>T n.7870C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502680C>A | CA507243904 | RYR1 | c.7788C>A (p.Thr2596=) c.7785C>A (p.Thr2595=) c.1240C>A n.7871C>A | |
19 | g.38502680C= | CA2335054417 | RYR1 | c.7788C= (p.Thr2596=) c.7785C= (p.Thr2595=) c.1240C= n.7871C= | |
19 | g.38502680C>G | CA507243905 | RYR1 | c.7788C>G (p.Thr2596=) c.7785C>G (p.Thr2595=) c.1240C>G n.7871C>G | ClinVar dbSNP |
19 | g.38502680C>T | CA070258 | RYR1 | c.7788C>T (p.Thr2596=) c.7785C>T (p.Thr2595=) c.1240C>T n.7871C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502681A= | CA2335054418 | RYR1 | c.7789A= (p.Lys2597=) c.7786A= (p.Lys2596=) c.1241A= n.7872A= | |
19 | g.38502681A>C | CA405672159 | RYR1 | c.7789A>C (p.Lys2597Gln) c.7786A>C (p.Lys2596Gln) c.1241A>C n.7872A>C | gnomAD v4 |
19 | g.38502681A>G | CA308112251 | RYR1 | c.7789A>G (p.Lys2597Glu) c.7786A>G (p.Lys2596Glu) c.1241A>G n.7872A>G | dbSNP gnomAD v4 |
19 | g.38502681A>T | CA405672166 | RYR1 | c.7789A>T (p.Lys2597Ter) c.7786A>T (p.Lys2596Ter) c.1241A>T n.7872A>T | |
19 | g.38502682A>C | CA405672169 | RYR1 | c.7790A>C (p.Lys2597Thr) c.7787A>C (p.Lys2596Thr) c.1242A>C n.7873A>C | |
19 | g.38502682A>G | CA405672175 | RYR1 | c.7790A>G (p.Lys2597Arg) c.7787A>G (p.Lys2596Arg) c.1242A>G n.7873A>G | |
19 | g.38502682A>T | CA405672176 | RYR1 | c.7790A>T (p.Lys2597Met) c.7787A>T (p.Lys2596Met) c.1242A>T n.7873A>T | |
19 | g.38502683G>A | CA507243909 | RYR1 | c.7791G>A (p.Lys2597=) c.7788G>A (p.Lys2596=) c.1243G>A n.7874G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502683G>C | CA405672177 | RYR1 | c.7791G>C (p.Lys2597Asn) c.7788G>C (p.Lys2596Asn) c.1243G>C n.7874G>C | gnomAD v4 |
19 | g.38502683G= | CA2335054419 | RYR1 | c.7791G= (p.Lys2597=) c.7788G= (p.Lys2596=) c.1243G= n.7874G= | |
19 | g.38502683G>T | CA405672178 | RYR1 | c.7791G>T (p.Lys2597Asn) c.7788G>T (p.Lys2596Asn) c.1243G>T n.7874G>T | gnomAD v4 |
19 | g.38502684_38502686del | CA2584900601 | RYR1 | c.7792_7794del (p.Ala2598del) c.7789_7791del (p.Ala2597del) c.1244_1246del n.7875_7877del | gnomAD v4 |
19 | g.38502684G>A | CA070269 | RYR1 | c.7792G>A (p.Ala2598Thr) c.7789G>A (p.Ala2597Thr) c.1244G>A n.7875G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502684G>C | CA405672179 | RYR1 | c.7792G>C (p.Ala2598Pro) c.7789G>C (p.Ala2597Pro) c.1244G>C n.7875G>C | |
19 | g.38502684G= | CA2335054420 | RYR1 | c.7792G= (p.Ala2598=) c.7789G= (p.Ala2597=) c.1244G= n.7875G= | |
19 | g.38502684G>T | CA405672180 | RYR1 | c.7792G>T (p.Ala2598Ser) c.7789G>T (p.Ala2597Ser) c.1244G>T n.7875G>T | gnomAD v4 |
19 | g.38502685C>A | CA405672181 | RYR1 | c.7793C>A (p.Ala2598Glu) c.7790C>A (p.Ala2597Glu) c.1245C>A n.7876C>A | |
19 | g.38502685C= | CA2335054421 | RYR1 | c.7793C= (p.Ala2598=) c.7790C= (p.Ala2597=) c.1245C= n.7876C= | |
19 | g.38502685C>G | CA308112261 | RYR1 | c.7793C>G (p.Ala2598Gly) c.7790C>G (p.Ala2597Gly) c.1245C>G n.7876C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502685C>T | CA070276 | RYR1 | c.7793C>T (p.Ala2598Val) c.7790C>T (p.Ala2597Val) c.1245C>T n.7876C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502686G>A | CA070280 | RYR1 | c.7794G>A (p.Ala2598=) c.7791G>A (p.Ala2597=) c.1246G>A n.7877G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502686G>C | CA507243920 | RYR1 | c.7794G>C (p.Ala2598=) c.7791G>C (p.Ala2597=) c.1246G>C n.7877G>C | ClinVar |
19 | g.38502686G= | CA2335054422 | RYR1 | c.7794G= (p.Ala2598=) c.7791G= (p.Ala2597=) c.1246G= n.7877G= | |
19 | g.38502686G>T | CA070285 | RYR1 | c.7794G>T (p.Ala2598=) c.7791G>T (p.Ala2597=) c.1246G>T n.7877G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502687C>A | CA405672184 | RYR1 | c.7795C>A (p.Gln2599Lys) c.7792C>A (p.Gln2598Lys) c.1247C>A n.7878C>A | |
19 | g.38502687C>G | CA405672187 | RYR1 | c.7795C>G (p.Gln2599Glu) c.7792C>G (p.Gln2598Glu) c.1247C>G n.7878C>G | |
19 | g.38502687C>T | CA405672188 | RYR1 | c.7795C>T (p.Gln2599Ter) c.7792C>T (p.Gln2598Ter) c.1247C>T n.7878C>T | gnomAD v4 |
19 | g.38502688A>C | CA405672189 | RYR1 | c.7796A>C (p.Gln2599Pro) c.7793A>C (p.Gln2598Pro) c.1248A>C n.7879A>C | |
19 | g.38502688A>G | CA405672190 | RYR1 | c.7796A>G (p.Gln2599Arg) c.7793A>G (p.Gln2598Arg) c.1248A>G n.7879A>G | |
19 | g.38502688A>T | CA405672191 | RYR1 | c.7796A>T (p.Gln2599Leu) c.7793A>T (p.Gln2598Leu) c.1248A>T n.7879A>T | |
19 | g.38502689G>A | CA070290 | RYR1 | c.7797G>A (p.Gln2599=) c.7794G>A (p.Gln2598=) c.1249G>A n.7880G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502689G>C | CA405672198 | RYR1 | c.7797G>C (p.Gln2599His) c.7794G>C (p.Gln2598His) c.1249G>C n.7880G>C | dbSNP |
19 | g.38502689G= | CA2335054423 | RYR1 | c.7797G= (p.Gln2599=) c.7794G= (p.Gln2598=) c.1249G= n.7880G= | |
19 | g.38502689G>T | CA082644 | RYR1 | c.7797G>T (p.Gln2599His) c.7794G>T (p.Gln2598His) c.1249G>T n.7880G>T | gnomAD v4 |
19 | g.38502690C>A | CA405672202 | RYR1 | c.7798C>A (p.Arg2600Ser) c.7795C>A (p.Arg2599Ser) c.1250C>A n.7881C>A | |
19 | g.38502690C= | CA2335054424 | RYR1 | c.7798C= (p.Arg2600=) c.7795C= (p.Arg2599=) c.1250C= n.7881C= | |
19 | g.38502690C>G | CA405672204 | RYR1 | c.7798C>G (p.Arg2600Gly) c.7795C>G (p.Arg2599Gly) c.1250C>G n.7881C>G | gnomAD v4 |
19 | g.38502690C>T | CA405672205 | RYR1 | c.7798C>T (p.Arg2600Cys) c.7795C>T (p.Arg2599Cys) c.1250C>T n.7881C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502691G>A | CA070297 | RYR1 | c.7799G>A (p.Arg2600His) c.7796G>A (p.Arg2599His) c.1251G>A n.7882G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502691G>C | CA405672207 | RYR1 | c.7799G>C (p.Arg2600Pro) c.7796G>C (p.Arg2599Pro) c.1251G>C n.7882G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502691G= | CA2335054425 | RYR1 | c.7799G= (p.Arg2600=) c.7796G= (p.Arg2599=) c.1251G= n.7882G= | |
19 | g.38502691G>T | CA405672206 | RYR1 | c.7799G>T (p.Arg2600Leu) c.7796G>T (p.Arg2599Leu) c.1251G>T n.7882G>T | gnomAD v4 |
19 | g.38502692T>A | CA507243933 | RYR1 | c.7800T>A (p.Arg2600=) c.7797T>A (p.Arg2599=) c.1252T>A n.7883T>A | |
19 | g.38502692T>C | CA070302 | RYR1 | c.7800T>C (p.Arg2600=) c.7797T>C (p.Arg2599=) c.1252T>C n.7883T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502692T>G | CA507243931 | RYR1 | c.7800T>G (p.Arg2600=) c.7797T>G (p.Arg2599=) c.1252T>G n.7883T>G | |
19 | g.38502692T= | CA2335054426 | RYR1 | c.7800T= (p.Arg2600=) c.7797T= (p.Arg2599=) c.1252T= n.7883T= | |
19 | g.38502693G>A | CA405672208 | RYR1 | c.7801G>A (p.Asp2601Asn) c.7798G>A (p.Asp2600Asn) c.1253G>A n.7884G>A | |
19 | g.38502693G>C | CA405672210 | RYR1 | c.7801G>C (p.Asp2601His) c.7798G>C (p.Asp2600His) c.1253G>C n.7884G>C | |
19 | g.38502693G>T | CA405672213 | RYR1 | c.7801G>T (p.Asp2601Tyr) c.7798G>T (p.Asp2600Tyr) c.1253G>T n.7884G>T | gnomAD v4 |
19 | g.38502694A>C | CA405672215 | RYR1 | c.7802A>C (p.Asp2601Ala) c.7799A>C (p.Asp2600Ala) c.1254A>C n.7885A>C | gnomAD v4 |
19 | g.38502694A>G | CA405672217 | RYR1 | c.7802A>G (p.Asp2601Gly) c.7799A>G (p.Asp2600Gly) c.1254A>G n.7885A>G | gnomAD v4 |
19 | g.38502694A>T | CA405672225 | RYR1 | c.7802A>T (p.Asp2601Val) c.7799A>T (p.Asp2600Val) c.1254A>T n.7885A>T | |
19 | g.38502695C>A | CA405672227 | RYR1 | c.7803C>A (p.Asp2601Glu) c.7800C>A (p.Asp2600Glu) c.1255C>A n.7886C>A | |
19 | g.38502695C= | CA2335054427 | RYR1 | c.7803C= (p.Asp2601=) c.7800C= (p.Asp2600=) c.1255C= n.7886C= | |
19 | g.38502695C>G | CA405672237 | RYR1 | c.7803C>G (p.Asp2601Glu) c.7800C>G (p.Asp2600Glu) c.1255C>G n.7886C>G | |
19 | g.38502695C>T | CA070303 | RYR1 | c.7803C>T (p.Asp2601=) c.7800C>T (p.Asp2600=) c.1255C>T n.7886C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38502696G>A | CA070309 | RYR1 | c.7804G>A (p.Val2602Ile) c.7801G>A (p.Val2601Ile) c.1256G>A n.7887G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502696G>C | CA405672248 | RYR1 | c.7804G>C (p.Val2602Leu) c.7801G>C (p.Val2601Leu) c.1256G>C n.7887G>C | dbSNP gnomAD v4 |
19 | g.38502696G= | CA2335054428 | RYR1 | c.7804G= (p.Val2602=) c.7801G= (p.Val2601=) c.1256G= n.7887G= | |
19 | g.38502696G>T | CA405672242 | RYR1 | c.7804G>T (p.Val2602Phe) c.7801G>T (p.Val2601Phe) c.1256G>T n.7887G>T | gnomAD v4 |
19 | g.38502697T>A | CA405672251 | RYR1 | c.7805T>A (p.Val2602Asp) c.7802T>A (p.Val2601Asp) c.1257T>A n.7888T>A | gnomAD v4 |
19 | g.38502697T>C | CA405672254 | RYR1 | c.7805T>C (p.Val2602Ala) c.7802T>C (p.Val2601Ala) c.1257T>C n.7888T>C | |
19 | g.38502697T>G | CA405672256 | RYR1 | c.7805T>G (p.Val2602Gly) c.7802T>G (p.Val2601Gly) c.1257T>G n.7888T>G | |
19 | g.38502698C>A | CA507243940 | RYR1 | c.7806C>A (p.Val2602=) c.7803C>A (p.Val2601=) c.1258C>A n.7889C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502698C= | CA2335054429 | RYR1 | c.7806C= (p.Val2602=) c.7803C= (p.Val2601=) c.1258C= n.7889C= | |
19 | g.38502698C>G | CA507243941 | RYR1 | c.7806C>G (p.Val2602=) c.7803C>G (p.Val2601=) c.1258C>G n.7889C>G | |
19 | g.38502698C>T | CA082656 | RYR1 | c.7806C>T (p.Val2602=) c.7803C>T (p.Val2601=) c.1258C>T n.7889C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502699A>C | CA405672260 | RYR1 | c.7807A>C (p.Ile2603Leu) c.7804A>C (p.Ile2602Leu) c.1259A>C n.7890A>C | |
19 | g.38502699A>G | CA405672266 | RYR1 | c.7807A>G (p.Ile2603Val) c.7804A>G (p.Ile2602Val) c.1259A>G n.7890A>G | |
19 | g.38502699A>T | CA405672269 | RYR1 | c.7807A>T (p.Ile2603Phe) c.7804A>T (p.Ile2602Phe) c.1259A>T n.7890A>T | ClinVar |
19 | g.38502700T>A | CA405672285 | RYR1 | c.7808T>A (p.Ile2603Asn) c.7805T>A (p.Ile2602Asn) c.1260T>A n.7891T>A | |
19 | g.38502700T>C | CA405672275 | RYR1 | c.7808T>C (p.Ile2603Thr) c.7805T>C (p.Ile2602Thr) c.1260T>C n.7891T>C | |
19 | g.38502700T>G | CA405672278 | RYR1 | c.7808T>G (p.Ile2603Ser) c.7805T>G (p.Ile2602Ser) c.1260T>G n.7891T>G | |
19 | g.38502701C>A | CA507243944 | RYR1 | c.7809C>A (p.Ile2603=) c.7806C>A (p.Ile2602=) c.1261C>A n.7892C>A | dbSNP |
19 | g.38502701C= | CA2335054430 | RYR1 | c.7809C= (p.Ile2603=) c.7806C= (p.Ile2602=) c.1261C= n.7892C= | |
19 | g.38502701C>G | CA405672289 | RYR1 | c.7809C>G (p.Ile2603Met) c.7806C>G (p.Ile2602Met) c.1261C>G n.7892C>G | gnomAD v4 |
19 | g.38502701C>T | CA070316 | RYR1 | c.7809C>T (p.Ile2603=) c.7806C>T (p.Ile2602=) c.1261C>T n.7892C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502702G>A | CA070323 | RYR1 | c.7810G>A (p.Glu2604Lys) c.7807G>A (p.Glu2603Lys) c.1262G>A n.7893G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38502702G>C | CA405672304 | RYR1 | c.7810G>C (p.Glu2604Gln) c.7807G>C (p.Glu2603Gln) c.1262G>C n.7893G>C | gnomAD v4 |
19 | g.38502702G= | CA2335054431 | RYR1 | c.7810G= (p.Glu2604=) c.7807G= (p.Glu2603=) c.1262G= n.7893G= | |
19 | g.38502702G>T | CA405672306 | RYR1 | c.7810G>T (p.Glu2604Ter) c.7807G>T (p.Glu2603Ter) c.1262G>T n.7893G>T | gnomAD v4 |
19 | g.38502703A>C | CA405672309 | RYR1 | c.7811A>C (p.Glu2604Ala) c.7808A>C (p.Glu2603Ala) c.1263A>C n.7894A>C | |
19 | g.38502703A>G | CA405672315 | RYR1 | c.7811A>G (p.Glu2604Gly) c.7808A>G (p.Glu2603Gly) c.1263A>G n.7894A>G | |
19 | g.38502703A>T | CA405672311 | RYR1 | c.7811A>T (p.Glu2604Val) c.7808A>T (p.Glu2603Val) c.1263A>T n.7894A>T | |
19 | g.38502704G>A | CA507243951 | RYR1 | c.7812G>A (p.Glu2604=) c.7809G>A (p.Glu2603=) c.1264G>A n.7895G>A | ClinVar gnomAD v4 |
19 | g.38502704G>C | CA405672316 | RYR1 | c.7812G>C (p.Glu2604Asp) c.7809G>C (p.Glu2603Asp) c.1264G>C n.7895G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502704G= | CA2335054432 | RYR1 | c.7812G= (p.Glu2604=) c.7809G= (p.Glu2603=) c.1264G= n.7895G= | |
19 | g.38502704G>T | CA405672318 | RYR1 | c.7812G>T (p.Glu2604Asp) c.7809G>T (p.Glu2603Asp) c.1264G>T n.7895G>T | gnomAD v4 |
19 | g.38502705G>A | CA070324 | RYR1 | c.7813G>A (p.Asp2605Asn) c.7810G>A (p.Asp2604Asn) c.1265G>A n.7896G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502705G>C | CA405672943 | RYR1 | c.7813G>C (p.Asp2605His) c.7810G>C (p.Asp2604His) c.1265G>C n.7896G>C | |
19 | g.38502705G= | CA2335054433 | RYR1 | c.7813G= (p.Asp2605=) c.7810G= (p.Asp2604=) c.1265G= n.7896G= | |
19 | g.38502705G>T | CA405672944 | RYR1 | c.7813G>T (p.Asp2605Tyr) c.7810G>T (p.Asp2604Tyr) c.1265G>T n.7896G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38502706A= | CA2335054434 | RYR1 | c.7814A= (p.Asp2605=) c.7811A= (p.Asp2604=) c.1266A= n.7897A= | |
19 | g.38502706A>C | CA405672945 | RYR1 | c.7814A>C (p.Asp2605Ala) c.7811A>C (p.Asp2604Ala) c.1266A>C n.7897A>C | |
19 | g.38502706A>G | CA405672946 | RYR1 | c.7814A>G (p.Asp2605Gly) c.7811A>G (p.Asp2604Gly) c.1266A>G n.7897A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502706A>T | CA405672949 | RYR1 | c.7814A>T (p.Asp2605Val) c.7811A>T (p.Asp2604Val) c.1266A>T n.7897A>T | |
19 | g.38502707C>A | CA405672951 | RYR1 | c.7815C>A (p.Asp2605Glu) c.7812C>A (p.Asp2604Glu) c.1267C>A n.7898C>A | |
19 | g.38502707C= | CA2335054435 | RYR1 | c.7815C= (p.Asp2605=) c.7812C= (p.Asp2604=) c.1267C= n.7898C= | |
19 | g.38502707C>G | CA070329 | RYR1 | c.7815C>G (p.Asp2605Glu) c.7812C>G (p.Asp2604Glu) c.1267C>G n.7898C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502707C>T | CA070335 | RYR1 | c.7815C>T (p.Asp2605=) c.7812C>T (p.Asp2604=) c.1267C>T n.7898C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502708T>A | CA070340 | RYR1 | c.7816T>A (p.Cys2606Ser) c.7813T>A (p.Cys2605Ser) c.1268T>A n.7899T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502708T>C | CA405672957 | RYR1 | c.7816T>C (p.Cys2606Arg) c.7813T>C (p.Cys2605Arg) c.1268T>C n.7899T>C | |
19 | g.38502708T>G | CA405672956 | RYR1 | c.7816T>G (p.Cys2606Gly) c.7813T>G (p.Cys2605Gly) c.1268T>G n.7899T>G | |
19 | g.38502708T= | CA2335054436 | RYR1 | c.7816T= (p.Cys2606=) c.7813T= (p.Cys2605=) c.1268T= n.7899T= | |
19 | g.38502709G>A | CA405672958 | RYR1 | c.7817G>A (p.Cys2606Tyr) c.7814G>A (p.Cys2605Tyr) c.1269G>A n.7900G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502709G>C | CA405672961 | RYR1 | c.7817G>C (p.Cys2606Ser) c.7814G>C (p.Cys2605Ser) c.1269G>C n.7900G>C | |
19 | g.38502709G= | CA2335054437 | RYR1 | c.7817G= (p.Cys2606=) c.7814G= (p.Cys2605=) c.1269G= n.7900G= | |
19 | g.38502709G>T | CA405672959 | RYR1 | c.7817G>T (p.Cys2606Phe) c.7814G>T (p.Cys2605Phe) c.1269G>T n.7900G>T | gnomAD v4 |
19 | g.38502710C>A | CA405672963 | RYR1 | c.7818C>A (p.Cys2606Ter) c.7815C>A (p.Cys2605Ter) c.1270C>A n.7901C>A | |
19 | g.38502710C= | CA2335054438 | RYR1 | c.7818C= (p.Cys2606=) c.7815C= (p.Cys2605=) c.1270C= n.7901C= | |
19 | g.38502710C>G | CA082666 | RYR1 | c.7818C>G (p.Cys2606Trp) c.7815C>G (p.Cys2605Trp) c.1270C>G n.7901C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502710C>T | CA082669 | RYR1 | c.7818C>T (p.Cys2606=) c.7815C>T (p.Cys2605=) c.1270C>T n.7901C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502711C>A | CA405672967 | RYR1 | c.7819C>A (p.Leu2607Ile) c.7816C>A (p.Leu2606Ile) c.1271C>A n.7902C>A | |
19 | g.38502711C= | CA2335054439 | RYR1 | c.7819C= (p.Leu2607=) c.7816C= (p.Leu2606=) c.1271C= n.7902C= | |
19 | g.38502711C>G | CA405672970 | RYR1 | c.7819C>G (p.Leu2607Val) c.7816C>G (p.Leu2606Val) c.1271C>G n.7902C>G | gnomAD v4 |
19 | g.38502711C>T | CA070343 | RYR1 | c.7819C>T (p.Leu2607Phe) c.7816C>T (p.Leu2606Phe) c.1271C>T n.7902C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502712T>A | CA405672973 | RYR1 | c.7820T>A (p.Leu2607His) c.7817T>A (p.Leu2606His) c.1272T>A n.7903T>A | |
19 | g.38502712T>C | CA070351 | RYR1 | c.7820T>C (p.Leu2607Pro) c.7817T>C (p.Leu2606Pro) c.1272T>C n.7903T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502712T>G | CA405672979 | RYR1 | c.7820T>G (p.Leu2607Arg) c.7817T>G (p.Leu2606Arg) c.1272T>G n.7903T>G | |
19 | g.38502712T= | CA2335054440 | RYR1 | c.7820T= (p.Leu2607=) c.7817T= (p.Leu2606=) c.1272T= n.7903T= | |
19 | g.38502713C>A | CA507353936 | RYR1 | c.7821C>A (p.Leu2607=) c.7818C>A (p.Leu2606=) c.1273C>A n.7904C>A | |
19 | g.38502713C= | CA2335054441 | RYR1 | c.7821C= (p.Leu2607=) c.7818C= (p.Leu2606=) c.1273C= n.7904C= | |
19 | g.38502713C>G | CA507353937 | RYR1 | c.7821C>G (p.Leu2607=) c.7818C>G (p.Leu2606=) c.1273C>G n.7904C>G | gnomAD v4 |
19 | g.38502713C>T | CA507353938 | RYR1 | c.7821C>T (p.Leu2607=) c.7818C>T (p.Leu2606=) c.1273C>T n.7904C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502714A= | CA2335054442 | RYR1 | c.7822A= (p.Met2608=) c.7819A= (p.Met2607=) c.1274A= n.7905A= | |
19 | g.38502714A>C | CA405672981 | RYR1 | c.7822A>C (p.Met2608Leu) c.7819A>C (p.Met2607Leu) c.1274A>C n.7905A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502714A>G | CA405672983 | RYR1 | c.7822A>G (p.Met2608Val) c.7819A>G (p.Met2607Val) c.1274A>G n.7905A>G | dbSNP gnomAD v4 |
19 | g.38502714A>T | CA405672985 | RYR1 | c.7822A>T (p.Met2608Leu) c.7819A>T (p.Met2607Leu) c.1274A>T n.7905A>T | |
19 | g.38502714_38502727del | CA2584900602 | RYR1 | c.7822_7835del (p.Met2608ValfsTer?) c.7819_7832del (p.Met2607ValfsTer?) c.1274_1287del n.7905_7918del | gnomAD v4 |
19 | g.38502715del | CA2584900603 | RYR1 | c.7823del (p.Met2608SerfsTer?) c.7820del (p.Met2607SerfsTer?) c.1275del n.7906del | gnomAD v4 |
19 | g.38502715T>A | CA405672998 | RYR1 | c.7823T>A (p.Met2608Lys) c.7820T>A (p.Met2607Lys) c.1275T>A n.7906T>A | |
19 | g.38502715T>C | CA082674 | RYR1 | c.7823T>C (p.Met2608Thr) c.7820T>C (p.Met2607Thr) c.1275T>C n.7906T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502715T>G | CA405673006 | RYR1 | c.7823T>G (p.Met2608Arg) c.7820T>G (p.Met2607Arg) c.1275T>G n.7906T>G | ClinVar gnomAD v4 |
19 | g.38502715T= | CA2335054443 | RYR1 | c.7823T= (p.Met2608=) c.7820T= (p.Met2607=) c.1275T= n.7906T= | |
19 | g.38502716G>A | CA405673028 | RYR1 | c.7824G>A (p.Met2608Ile) c.7821G>A (p.Met2607Ile) c.1276G>A n.7907G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502716G>C | CA405673011 | RYR1 | c.7824G>C (p.Met2608Ile) c.7821G>C (p.Met2607Ile) c.1276G>C n.7907G>C | dbSNP gnomAD v4 |
19 | g.38502716G= | CA2335054444 | RYR1 | c.7824G= (p.Met2608=) c.7821G= (p.Met2607=) c.1276G= n.7907G= | |
19 | g.38502716G>T | CA405673009 | RYR1 | c.7824G>T (p.Met2608Ile) c.7821G>T (p.Met2607Ile) c.1276G>T n.7907G>T | gnomAD v4 |
19 | g.38502717T>A | CA405673029 | RYR1 | c.7825T>A (p.Ser2609Thr) c.7822T>A (p.Ser2608Thr) c.1277T>A n.7908T>A | |
19 | g.38502717T>C | CA405673030 | RYR1 | c.7825T>C (p.Ser2609Pro) c.7822T>C (p.Ser2608Pro) c.1277T>C n.7908T>C | |
19 | g.38502717T>G | CA405673031 | RYR1 | c.7825T>G (p.Ser2609Ala) c.7822T>G (p.Ser2608Ala) c.1277T>G n.7908T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502717T= | CA2335054445 | RYR1 | c.7825T= (p.Ser2609=) c.7822T= (p.Ser2608=) c.1277T= n.7908T= | |
19 | g.38502718C>A | CA405673033 | RYR1 | c.7826C>A (p.Ser2609Ter) c.7823C>A (p.Ser2608Ter) c.1278C>A n.7909C>A | gnomAD v3 gnomAD v4 |
19 | g.38502718C= | CA2335054446 | RYR1 | c.7826C= (p.Ser2609=) c.7823C= (p.Ser2608=) c.1278C= n.7909C= | |
19 | g.38502718C>G | CA405673034 | RYR1 | c.7826C>G (p.Ser2609Trp) c.7823C>G (p.Ser2608Trp) c.1278C>G n.7909C>G | ClinVar dbSNP |
19 | g.38502718C>T | CA070356 | RYR1 | c.7826C>T (p.Ser2609Leu) c.7823C>T (p.Ser2608Leu) c.1278C>T n.7909C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502719G>A | CA308112322 | RYR1 | c.7827G>A (p.Ser2609=) c.7824G>A (p.Ser2608=) c.1279G>A n.7910G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502719G>C | CA507353939 | RYR1 | c.7827G>C (p.Ser2609=) c.7824G>C (p.Ser2608=) c.1279G>C n.7910G>C | |
19 | g.38502719G= | CA2335054447 | RYR1 | c.7827G= (p.Ser2609=) c.7824G= (p.Ser2608=) c.1279G= n.7910G= | |
19 | g.38502719G>T | CA507353940 | RYR1 | c.7827G>T (p.Ser2609=) c.7824G>T (p.Ser2608=) c.1279G>T n.7910G>T | gnomAD v4 |
19 | g.38502720C>A | CA405673041 | RYR1 | c.7828C>A (p.Leu2610Ile) c.7825C>A (p.Leu2609Ile) c.1280C>A n.7911C>A | |
19 | g.38502720C= | CA2335054448 | RYR1 | c.7828C= (p.Leu2610=) c.7825C= (p.Leu2609=) c.1280C= n.7911C= | |
19 | g.38502720C>G | CA405673046 | RYR1 | c.7828C>G (p.Leu2610Val) c.7825C>G (p.Leu2609Val) c.1280C>G n.7911C>G | gnomAD v4 |
19 | g.38502720C>T | CA070357 | RYR1 | c.7828C>T (p.Leu2610Phe) c.7825C>T (p.Leu2609Phe) c.1280C>T n.7911C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502721T>A | CA405673066 | RYR1 | c.7829T>A (p.Leu2610His) c.7826T>A (p.Leu2609His) c.1281T>A n.7912T>A | |
19 | g.38502721T>C | CA405673069 | RYR1 | c.7829T>C (p.Leu2610Pro) c.7826T>C (p.Leu2609Pro) c.1281T>C n.7912T>C | |
19 | g.38502721T>G | CA405673073 | RYR1 | c.7829T>G (p.Leu2610Arg) c.7826T>G (p.Leu2609Arg) c.1281T>G n.7912T>G | gnomAD v4 |
19 | g.38502722C>A | CA507353941 | RYR1 | c.7830C>A (p.Leu2610=) c.7827C>A (p.Leu2609=) c.1282C>A n.7913C>A | |
19 | g.38502722C= | CA2335054449 | RYR1 | c.7830C= (p.Leu2610=) c.7827C= (p.Leu2609=) c.1282C= n.7913C= | |
19 | g.38502722C>G | CA507353942 | RYR1 | c.7830C>G (p.Leu2610=) c.7827C>G (p.Leu2609=) c.1282C>G n.7913C>G | ClinVar dbSNP |
19 | g.38502722C>T | CA070361 | RYR1 | c.7830C>T (p.Leu2610=) c.7827C>T (p.Leu2609=) c.1282C>T n.7913C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502723T>A | CA405673085 | RYR1 | c.7831T>A (p.Cys2611Ser) c.7828T>A (p.Cys2610Ser) c.1283T>A n.7914T>A | |
19 | g.38502723T>C | CA405673079 | RYR1 | c.7831T>C (p.Cys2611Arg) c.7828T>C (p.Cys2610Arg) c.1283T>C n.7914T>C | |
19 | g.38502723T>G | CA405673081 | RYR1 | c.7831T>G (p.Cys2611Gly) c.7828T>G (p.Cys2610Gly) c.1283T>G n.7914T>G | |
19 | g.38502724G>A | CA070367 | RYR1 | c.7832G>A (p.Cys2611Tyr) c.7829G>A (p.Cys2610Tyr) c.1284G>A n.7915G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38502724G>C | CA405673106 | RYR1 | c.7832G>C (p.Cys2611Ser) c.7829G>C (p.Cys2610Ser) c.1284G>C n.7915G>C | gnomAD v4 |
19 | g.38502724G= | CA2335054450 | RYR1 | c.7832G= (p.Cys2611=) c.7829G= (p.Cys2610=) c.1284G= n.7915G= | |
19 | g.38502724G>T | CA405673108 | RYR1 | c.7832G>T (p.Cys2611Phe) c.7829G>T (p.Cys2610Phe) c.1284G>T n.7915G>T | gnomAD v4 |
19 | g.38502725C>A | CA405673111 | RYR1 | c.7833C>A (p.Cys2611Ter) c.7830C>A (p.Cys2610Ter) c.1285C>A n.7916C>A | |
19 | g.38502725C= | CA2335054451 | RYR1 | c.7833C= (p.Cys2611=) c.7830C= (p.Cys2610=) c.1285C= n.7916C= | |
19 | g.38502725C>G | CA405673114 | RYR1 | c.7833C>G (p.Cys2611Trp) c.7830C>G (p.Cys2610Trp) c.1285C>G n.7916C>G | |
19 | g.38502725C>T | CA082680 | RYR1 | c.7833C>T (p.Cys2611=) c.7830C>T (p.Cys2610=) c.1285C>T n.7916C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502726A= | CA2335054453 | RYR1 | c.7834A= (p.Arg2612=) c.7831A= (p.Arg2611=) c.1286A= n.7917A= | |
19 | g.38502726A>C | CA507353950 | RYR1 | c.7834A>C (p.Arg2612=) c.7831A>C (p.Arg2611=) c.1286A>C n.7917A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502726A>G | CA405673117 | RYR1 | c.7834A>G (p.Arg2612Gly) c.7831A>G (p.Arg2611Gly) c.1286A>G n.7917A>G | |
19 | g.38502726A>T | CA405673120 | RYR1 | c.7834A>T (p.Arg2612Trp) c.7831A>T (p.Arg2611Trp) c.1286A>T n.7917A>T | |
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.38502727G>A | CA070560 | RYR1 | c.7835G>A (p.Arg2612Lys) c.7832G>A (p.Arg2611Lys) c.1287G>A n.7918G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38502727G>C | CA405673125 | RYR1 | c.7835G>C (p.Arg2612Thr) c.7832G>C (p.Arg2611Thr) c.1287G>C n.7918G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38502727G= | CA2335054454 | RYR1 | c.7835G= (p.Arg2612=) c.7832G= (p.Arg2611=) c.1287G= n.7918G= | |
19 | g.38502727G>T | CA405673133 | RYR1 | c.7835G>T (p.Arg2612Met) c.7832G>T (p.Arg2611Met) c.1287G>T n.7918G>T | |
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.38502728G>A | CA16607795 | RYR1 | c.7835+1G>A (n.7835+1G>A) c.7832+1G>A (n.7832+1G>A) c.1287+1G>A n.7918+1G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38502728G>C | CA405673138 | RYR1 | c.7835+1G>C (n.7835+1G>C) c.7832+1G>C (n.7832+1G>C) c.1287+1G>C n.7918+1G>C | gnomAD v4 |
19 | g.38502728G= | CA2335054455 | RYR1 | c.7835+1G= (n.7835+1G=) c.7832+1G= (n.7832+1G=) c.1287+1G= n.7918+1G= | |
19 | g.38502728G>T | CA405673142 | RYR1 | c.7835+1G>T (n.7835+1G>T) c.7832+1G>T (n.7832+1G>T) c.1287+1G>T n.7918+1G>T | dbSNP gnomAD v4 |
19 | g.38502729T>A | CA405673147 | RYR1 | c.7835+2T>A (n.7835+2T>A) c.7832+2T>A (n.7832+2T>A) c.1287+2T>A n.7918+2T>A | gnomAD v4 |
19 | g.38502729T>C | CA405673150 | RYR1 | c.7835+2T>C (n.7835+2T>C) c.7832+2T>C (n.7832+2T>C) c.1287+2T>C n.7918+2T>C | dbSNP |
19 | g.38502729T>G | CA405673152 | RYR1 | c.7835+2T>G (n.7835+2T>G) c.7832+2T>G (n.7832+2T>G) c.1287+2T>G n.7918+2T>G | ClinVar dbSNP gnomAD v4 |
19 | g.38502729T= | CA2335054456 | RYR1 | c.7835+2T= (n.7835+2T=) c.7832+2T= (n.7832+2T=) c.1287+2T= n.7918+2T= | |
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.38502730G>A | CA995717297 | RYR1 | c.7835+3G>A (n.7835+3G>A) c.7832+3G>A (n.7832+3G>A) c.1287+3G>A n.7918+3G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38502730G= | CA2335054460 | RYR1 | c.7835+3G= (n.7835+3G=) c.7832+3G= (n.7832+3G=) c.1287+3G= n.7918+3G= | |
19 | g.38502730G>T | CA308112361 | RYR1 | c.7835+3G>T (n.7835+3G>T) c.7832+3G>T (n.7832+3G>T) c.1287+3G>T n.7918+3G>T | dbSNP gnomAD v4 |
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 |