Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38496281G>A | CA068478 | RYR1 | c.6615G>A (p.Glu2205=) c.6612G>A (p.Glu2204=) c.67G>A n.6698G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38496281G>C | CA405665903 | RYR1 | c.6615G>C (p.Glu2205Asp) c.6612G>C (p.Glu2204Asp) c.67G>C n.6698G>C | ClinVar |
19 | g.38496281G= | CA2335051164 | RYR1 | c.6615G= (p.Glu2205=) c.6612G= (p.Glu2204=) c.67G= n.6698G= | |
19 | g.38496281G>T | CA405665906 | RYR1 | c.6615G>T (p.Glu2205Asp) c.6612G>T (p.Glu2204Asp) c.67G>T n.6698G>T | |
19 | g.38496282A>C | CA405665909 | RYR1 | c.6616A>C (p.Thr2206Pro) c.6613A>C (p.Thr2205Pro) c.68A>C n.6699A>C | |
19 | g.38496282A>G | CA405665912 | RYR1 | c.6616A>G (p.Thr2206Ala) c.6613A>G (p.Thr2205Ala) c.68A>G n.6699A>G | |
19 | g.38496282A>T | CA405665914 | RYR1 | c.6616A>T (p.Thr2206Ser) c.6613A>T (p.Thr2205Ser) c.68A>T n.6699A>T | |
19 | g.38496283C>A | CA405665917 | RYR1 | c.6617C>A (p.Thr2206Lys) c.6614C>A (p.Thr2205Lys) c.69C>A n.6700C>A | |
19 | g.38496283C= | CA2335051165 | RYR1 | c.6617C= (p.Thr2206=) c.6614C= (p.Thr2205=) c.69C= n.6700C= | |
19 | g.38496283C>G | CA024620 | RYR1 | c.6617C>G (p.Thr2206Arg) c.6614C>G (p.Thr2205Arg) c.69C>G n.6700C>G | ClinVar dbSNP |
19 | g.38496283C>T | CA024622 | RYR1 | c.6617C>T (p.Thr2206Met) c.6614C>T (p.Thr2205Met) c.69C>T n.6700C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496284G>A | CA068486 | RYR1 | c.6618G>A (p.Thr2206=) c.6615G>A (p.Thr2205=) c.70G>A n.6701G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496284G>C | CA507353611 | RYR1 | c.6618G>C (p.Thr2206=) c.6615G>C (p.Thr2205=) c.70G>C n.6701G>C | |
19 | g.38496284G= | CA2335051166 | RYR1 | c.6618G= (p.Thr2206=) c.6615G= (p.Thr2205=) c.70G= n.6701G= | |
19 | g.38496284G>T | CA507353612 | RYR1 | c.6618G>T (p.Thr2206=) c.6615G>T (p.Thr2205=) c.70G>T n.6701G>T | |
19 | g.38496285del | CA2573054754 | RYR1 | c.6619del (p.Val2207SerfsTer23) c.6616del (p.Val2206SerfsTer23) c.71del n.6702del | ClinVar dbSNP |
19 | g.38496285G>A | CA405665925 | RYR1 | c.6619G>A (p.Val2207Ile) c.6616G>A (p.Val2206Ile) c.71G>A n.6702G>A | |
19 | g.38496285G>C | CA405665921 | RYR1 | c.6619G>C (p.Val2207Leu) c.6616G>C (p.Val2206Leu) c.71G>C n.6702G>C | |
19 | g.38496285G>T | CA405665922 | RYR1 | c.6619G>T (p.Val2207Phe) c.6616G>T (p.Val2206Phe) c.71G>T n.6702G>T | |
19 | g.38496286T>A | CA405665927 | RYR1 | c.6620T>A (p.Val2207Asp) c.6617T>A (p.Val2206Asp) c.72T>A n.6703T>A | |
19 | g.38496286T>C | CA405665930 | RYR1 | c.6620T>C (p.Val2207Ala) c.6617T>C (p.Val2206Ala) c.72T>C n.6703T>C | |
19 | g.38496286T>G | CA405665931 | RYR1 | c.6620T>G (p.Val2207Gly) c.6617T>G (p.Val2206Gly) c.72T>G n.6703T>G | |
19 | g.38496287C>A | CA507353614 | RYR1 | c.6621C>A (p.Val2207=) c.6618C>A (p.Val2206=) c.73C>A n.6704C>A | |
19 | g.38496287C>G | CA507353616 | RYR1 | c.6621C>G (p.Val2207=) c.6618C>G (p.Val2206=) c.73C>G n.6704C>G | |
19 | g.38496287C>T | CA507353615 | RYR1 | c.6621C>T (p.Val2207=) c.6618C>T (p.Val2206=) c.73C>T n.6704C>T | |
19 | g.38496288A= | CA2335051167 | RYR1 | c.6622A= (p.Met2208=) c.6619A= (p.Met2207=) c.74A= n.6705A= | |
19 | g.38496288A>C | CA405665934 | RYR1 | c.6622A>C (p.Met2208Leu) c.6619A>C (p.Met2207Leu) c.74A>C n.6705A>C | |
19 | g.38496288A>G | CA405665936 | RYR1 | c.6622A>G (p.Met2208Val) c.6619A>G (p.Met2207Val) c.74A>G n.6705A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496288A>T | CA405665938 | RYR1 | c.6622A>T (p.Met2208Leu) c.6619A>T (p.Met2207Leu) c.74A>T n.6705A>T | |
19 | g.38496289T>A | CA405665941 | RYR1 | c.6623T>A (p.Met2208Lys) c.6620T>A (p.Met2207Lys) c.75T>A n.6706T>A | |
19 | g.38496289T>C | CA405665942 | RYR1 | c.6623T>C (p.Met2208Thr) c.6620T>C (p.Met2207Thr) c.75T>C n.6706T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496289T>G | CA405665944 | RYR1 | c.6623T>G (p.Met2208Arg) c.6620T>G (p.Met2207Arg) c.75T>G n.6706T>G | |
19 | g.38496289T= | CA2335051168 | RYR1 | c.6623T= (p.Met2208=) c.6620T= (p.Met2207=) c.75T= n.6706T= | |
19 | g.38496290G>A | CA405665946 | RYR1 | c.6624G>A (p.Met2208Ile) c.6621G>A (p.Met2207Ile) c.76G>A n.6707G>A | gnomAD v4 |
19 | g.38496290G>C | CA405665949 | RYR1 | c.6624G>C (p.Met2208Ile) c.6621G>C (p.Met2207Ile) c.76G>C n.6707G>C | |
19 | g.38496290G>T | CA405665950 | RYR1 | c.6624G>T (p.Met2208Ile) c.6621G>T (p.Met2207Ile) c.76G>T n.6707G>T | |
19 | g.38496291G>A | CA405665953 | RYR1 | c.6625G>A (p.Glu2209Lys) c.6622G>A (p.Glu2208Lys) c.77G>A n.6708G>A | |
19 | g.38496291G>C | CA405665958 | RYR1 | c.6625G>C (p.Glu2209Gln) c.6622G>C (p.Glu2208Gln) c.77G>C n.6708G>C | |
19 | g.38496291G>T | CA405665955 | RYR1 | c.6625G>T (p.Glu2209Ter) c.6622G>T (p.Glu2208Ter) c.77G>T n.6708G>T | |
19 | g.38496292A>C | CA405665960 | RYR1 | c.6626A>C (p.Glu2209Ala) c.6623A>C (p.Glu2208Ala) c.78A>C n.6709A>C | |
19 | g.38496292A>G | CA405665964 | RYR1 | c.6626A>G (p.Glu2209Gly) c.6623A>G (p.Glu2208Gly) c.78A>G n.6709A>G | |
19 | g.38496292A>T | CA405665962 | RYR1 | c.6626A>T (p.Glu2209Val) c.6623A>T (p.Glu2208Val) c.78A>T n.6709A>T | |
19 | g.38496293G>A | CA068489 | RYR1 | c.6627G>A (p.Glu2209=) c.6624G>A (p.Glu2208=) c.79G>A n.6710G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496293G>C | CA405665968 | RYR1 | c.6627G>C (p.Glu2209Asp) c.6624G>C (p.Glu2208Asp) c.79G>C n.6710G>C | |
19 | g.38496293G= | CA2335051169 | RYR1 | c.6627G= (p.Glu2209=) c.6624G= (p.Glu2208=) c.79G= n.6710G= | |
19 | g.38496293G>T | CA405665969 | RYR1 | c.6627G>T (p.Glu2209Asp) c.6624G>T (p.Glu2208Asp) c.79G>T n.6710G>T | |
19 | g.38496294G>A | CA405665972 | RYR1 | c.6628G>A (p.Val2210Ile) c.6625G>A (p.Val2209Ile) c.80G>A n.6711G>A | ClinVar gnomAD v4 |
19 | g.38496294G>C | CA405665975 | RYR1 | c.6628G>C (p.Val2210Leu) c.6625G>C (p.Val2209Leu) c.80G>C n.6711G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38496294G= | CA2335051170 | RYR1 | c.6628G= (p.Val2210=) c.6625G= (p.Val2209=) c.80G= n.6711G= | |
19 | g.38496294G>T | CA024625 | RYR1 | c.6628G>T (p.Val2210Phe) c.6625G>T (p.Val2209Phe) c.80G>T n.6711G>T | ClinVar dbSNP |
19 | g.38496295T>A | CA405665984 | RYR1 | c.6629T>A (p.Val2210Asp) c.6626T>A (p.Val2209Asp) c.81T>A n.6712T>A | ClinVar dbSNP |
19 | g.38496295T>C | CA405665986 | RYR1 | c.6629T>C (p.Val2210Ala) c.6626T>C (p.Val2209Ala) c.81T>C n.6712T>C | |
19 | g.38496295T>G | CA405665989 | RYR1 | c.6629T>G (p.Val2210Gly) c.6626T>G (p.Val2209Gly) c.81T>G n.6712T>G | |
19 | g.38496295T= | CA2335051171 | RYR1 | c.6629T= (p.Val2210=) c.6626T= (p.Val2209=) c.81T= n.6712T= | |
19 | g.38496296C>A | CA507353621 | RYR1 | c.6630C>A (p.Val2210=) c.6627C>A (p.Val2209=) c.82C>A n.6713C>A | |
19 | g.38496296C>G | CA507353622 | RYR1 | c.6630C>G (p.Val2210=) c.6627C>G (p.Val2209=) c.82C>G n.6713C>G | |
19 | g.38496296C>T | CA507353624 | RYR1 | c.6630C>T (p.Val2210=) c.6627C>T (p.Val2209=) c.82C>T n.6713C>T | |
19 | g.38496297A= | CA2335051172 | RYR1 | c.6631A= (p.Met2211=) c.6628A= (p.Met2210=) c.83A= n.6714A= | |
19 | g.38496297A>C | CA405665993 | RYR1 | c.6631A>C (p.Met2211Leu) c.6628A>C (p.Met2210Leu) c.83A>C n.6714A>C | ClinVar dbSNP |
19 | g.38496297A>G | CA405665994 | RYR1 | c.6631A>G (p.Met2211Val) c.6628A>G (p.Met2210Val) c.83A>G n.6714A>G | |
19 | g.38496297A>T | CA405665996 | RYR1 | c.6631A>T (p.Met2211Leu) c.6628A>T (p.Met2210Leu) c.83A>T n.6714A>T | |
19 | g.38496298T>A | CA405666000 | RYR1 | c.6632T>A (p.Met2211Lys) c.6629T>A (p.Met2210Lys) c.84T>A n.6715T>A | |
19 | g.38496298T>C | CA405666004 | RYR1 | c.6632T>C (p.Met2211Thr) c.6629T>C (p.Met2210Thr) c.84T>C n.6715T>C | gnomAD v4 |
19 | g.38496298T>G | CA405666002 | RYR1 | c.6632T>G (p.Met2211Arg) c.6629T>G (p.Met2210Arg) c.84T>G n.6715T>G | |
19 | g.38496299G>A | CA405666008 | RYR1 | c.6633G>A (p.Met2211Ile) c.6630G>A (p.Met2210Ile) c.85G>A n.6716G>A | |
19 | g.38496299G>C | CA405666010 | RYR1 | c.6633G>C (p.Met2211Ile) c.6630G>C (p.Met2210Ile) c.85G>C n.6716G>C | |
19 | g.38496299G>T | CA405666013 | RYR1 | c.6633G>T (p.Met2211Ile) c.6630G>T (p.Met2210Ile) c.85G>T n.6716G>T | |
19 | g.38496300G>A | CA405666016 | RYR1 | c.6634G>A (p.Val2212Ile) c.6631G>A (p.Val2211Ile) c.86G>A n.6717G>A | |
19 | g.38496300G>C | CA405666019 | RYR1 | c.6634G>C (p.Val2212Leu) c.6631G>C (p.Val2211Leu) c.86G>C n.6717G>C | |
19 | g.38496300G>T | CA405666021 | RYR1 | c.6634G>T (p.Val2212Phe) c.6631G>T (p.Val2211Phe) c.86G>T n.6717G>T | |
19 | g.38496301T>A | CA024628 | RYR1 | c.6635T>A (p.Val2212Asp) c.6632T>A (p.Val2211Asp) c.87T>A n.6718T>A | ClinVar dbSNP |
19 | g.38496301T>C | CA024631 | RYR1 | c.6635T>C (p.Val2212Ala) c.6632T>C (p.Val2211Ala) c.87T>C n.6718T>C | ClinVar dbSNP |
19 | g.38496301T>G | CA405666028 | RYR1 | c.6635T>G (p.Val2212Gly) c.6632T>G (p.Val2211Gly) c.87T>G n.6718T>G | |
19 | g.38496301T= | CA2335051173 | RYR1 | c.6635T= (p.Val2212=) c.6632T= (p.Val2211=) c.87T= n.6718T= | |
19 | g.38496302C>A | CA068495 | RYR1 | c.6636C>A (p.Val2212=) c.6633C>A (p.Val2211=) c.88C>A n.6719C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38496302C= | CA2335051174 | RYR1 | c.6636C= (p.Val2212=) c.6633C= (p.Val2211=) c.88C= n.6719C= | |
19 | g.38496302C>G | CA507353631 | RYR1 | c.6636C>G (p.Val2212=) c.6633C>G (p.Val2211=) c.88C>G n.6719C>G | |
19 | g.38496302C>T | CA507353630 | RYR1 | c.6636C>T (p.Val2212=) c.6633C>T (p.Val2211=) c.88C>T n.6719C>T | |
19 | g.38496303A>C | CA405666040 | RYR1 | c.6637A>C (p.Asn2213His) c.6634A>C (p.Asn2212His) c.89A>C n.6720A>C | |
19 | g.38496303A>G | CA405666041 | RYR1 | c.6637A>G (p.Asn2213Asp) c.6634A>G (p.Asn2212Asp) c.89A>G n.6720A>G | COSMIC |
19 | g.38496303A>T | CA405666038 | RYR1 | c.6637A>T (p.Asn2213Tyr) c.6634A>T (p.Asn2212Tyr) c.89A>T n.6720A>T | |
19 | g.38496304A>C | CA405666044 | RYR1 | c.6638A>C (p.Asn2213Thr) c.6635A>C (p.Asn2212Thr) c.90A>C n.6721A>C | |
19 | g.38496304A>G | CA405666046 | RYR1 | c.6638A>G (p.Asn2213Ser) c.6635A>G (p.Asn2212Ser) c.90A>G n.6721A>G | gnomAD v4 |
19 | g.38496304A>T | CA405666048 | RYR1 | c.6638A>T (p.Asn2213Ile) c.6635A>T (p.Asn2212Ile) c.90A>T n.6721A>T | COSMIC |
19 | g.38496305C>A | CA082146 | RYR1 | c.6639C>A (p.Asn2213Lys) c.6636C>A (p.Asn2212Lys) c.91C>A n.6722C>A | COSMIC |
19 | g.38496305C= | CA2335051175 | RYR1 | c.6639C= (p.Asn2213=) c.6636C= (p.Asn2212=) c.91C= n.6722C= | |
19 | g.38496305C>G | CA405666051 | RYR1 | c.6639C>G (p.Asn2213Lys) c.6636C>G (p.Asn2212Lys) c.91C>G n.6722C>G | |
19 | g.38496305C>T | CA068499 | RYR1 | c.6639C>T (p.Asn2213=) c.6636C>T (p.Asn2212=) c.91C>T n.6722C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496306G>A | CA024634 | RYR1 | c.6640G>A (p.Val2214Ile) c.6637G>A (p.Val2213Ile) c.92G>A n.6723G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496306G>C | CA405666057 | RYR1 | c.6640G>C (p.Val2214Leu) c.6637G>C (p.Val2213Leu) c.92G>C n.6723G>C | COSMIC |
19 | g.38496306G= | CA2335051176 | RYR1 | c.6640G= (p.Val2214=) c.6637G= (p.Val2213=) c.92G= n.6723G= | |
19 | g.38496306G>T | CA405666060 | RYR1 | c.6640G>T (p.Val2214Phe) c.6637G>T (p.Val2213Phe) c.92G>T n.6723G>T | |
19 | g.38496307T>A | CA405666062 | RYR1 | c.6641T>A (p.Val2214Asp) c.6638T>A (p.Val2213Asp) c.93T>A n.6724T>A | |
19 | g.38496307T>C | CA405666065 | RYR1 | c.6641T>C (p.Val2214Ala) c.6638T>C (p.Val2213Ala) c.93T>C n.6724T>C | |
19 | g.38496307T>G | CA405666067 | RYR1 | c.6641T>G (p.Val2214Gly) c.6638T>G (p.Val2213Gly) c.93T>G n.6724T>G | |
19 | g.38496308C>A | CA507353551 | RYR1 | c.6642C>A (p.Val2214=) c.6639C>A (p.Val2213=) c.94C>A n.6725C>A | gnomAD v4 |
19 | g.38496308C= | CA2335051177 | RYR1 | c.6642C= (p.Val2214=) c.6639C= (p.Val2213=) c.94C= n.6725C= | |
19 | g.38496308C>G | CA507353552 | RYR1 | c.6642C>G (p.Val2214=) c.6639C>G (p.Val2213=) c.94C>G n.6725C>G | ClinVar |
19 | g.38496308C>T | CA082147 | RYR1 | c.6642C>T (p.Val2214=) c.6639C>T (p.Val2213=) c.94C>T n.6725C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496309C>A | CA405666072 | RYR1 | c.6643C>A (p.Leu2215Ile) c.6640C>A (p.Leu2214Ile) c.95C>A n.6726C>A | |
19 | g.38496309C>G | CA405666074 | RYR1 | c.6643C>G (p.Leu2215Val) c.6640C>G (p.Leu2214Val) c.95C>G n.6726C>G | |
19 | g.38496309C>T | CA405666070 | RYR1 | c.6643C>T (p.Leu2215Phe) c.6640C>T (p.Leu2214Phe) c.95C>T n.6726C>T | |
19 | g.38496310T>A | CA405666077 | RYR1 | c.6644T>A (p.Leu2215His) c.6641T>A (p.Leu2214His) c.96T>A n.6727T>A | |
19 | g.38496310T>C | CA405666080 | RYR1 | c.6644T>C (p.Leu2215Pro) c.6641T>C (p.Leu2214Pro) c.96T>C n.6727T>C | |
19 | g.38496310T>G | CA405666081 | RYR1 | c.6644T>G (p.Leu2215Arg) c.6641T>G (p.Leu2214Arg) c.96T>G n.6727T>G | |
19 | g.38496311C>A | CA507353557 | RYR1 | c.6645C>A (p.Leu2215=) c.6642C>A (p.Leu2214=) c.97C>A n.6728C>A | |
19 | g.38496311C= | CA2335051178 | RYR1 | c.6645C= (p.Leu2215=) c.6642C= (p.Leu2214=) c.97C= n.6728C= | |
19 | g.38496311C>G | CA507353559 | RYR1 | c.6645C>G (p.Leu2215=) c.6642C>G (p.Leu2214=) c.97C>G n.6728C>G | |
19 | g.38496311C>T | CA024637 | RYR1 | c.6645C>T (p.Leu2215=) c.6642C>T (p.Leu2214=) c.97C>T n.6728C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496312G>A | CA405666089 | RYR1 | c.6646G>A (p.Gly2216Arg) c.6643G>A (p.Gly2215Arg) c.98G>A n.6729G>A | |
19 | g.38496312G>C | CA405666087 | RYR1 | c.6646G>C (p.Gly2216Arg) c.6643G>C (p.Gly2215Arg) c.98G>C n.6729G>C | |
19 | g.38496312G>T | CA405666086 | RYR1 | c.6646G>T (p.Gly2216Trp) c.6643G>T (p.Gly2215Trp) c.98G>T n.6729G>T | |
19 | g.38496316dup | CA2584899554 | RYR1 | c.6650dup (p.Gly2218ArgfsTer?) c.6647dup (p.Gly2217ArgfsTer?) c.102dup n.6733dup | gnomAD v4 |
19 | g.38496313G>A | CA405666091 | RYR1 | c.6647G>A (p.Gly2216Glu) c.6644G>A (p.Gly2215Glu) c.99G>A n.6730G>A | |
19 | g.38496313G>C | CA405666093 | RYR1 | c.6647G>C (p.Gly2216Ala) c.6644G>C (p.Gly2215Ala) c.99G>C n.6730G>C | |
19 | g.38496313G>T | CA405666095 | RYR1 | c.6647G>T (p.Gly2216Val) c.6644G>T (p.Gly2215Val) c.99G>T n.6730G>T | |
19 | g.38496314G>A | CA507353564 | RYR1 | c.6648G>A (p.Gly2216=) c.6645G>A (p.Gly2215=) c.100G>A n.6731G>A | dbSNP gnomAD v4 |
19 | g.38496314G>C | CA507353566 | RYR1 | c.6648G>C (p.Gly2216=) c.6645G>C (p.Gly2215=) c.100G>C n.6731G>C | |
19 | g.38496314G>T | CA507353567 | RYR1 | c.6648G>T (p.Gly2216=) c.6645G>T (p.Gly2215=) c.100G>T n.6731G>T | |
19 | g.38496315G>A | CA405666099 | RYR1 | c.6649G>A (p.Gly2217Ser) c.6646G>A (p.Gly2216Ser) c.101G>A n.6732G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496315G>C | CA405666102 | RYR1 | c.6649G>C (p.Gly2217Arg) c.6646G>C (p.Gly2216Arg) c.101G>C n.6732G>C | |
19 | g.38496315G= | CA2335051179 | RYR1 | c.6649G= (p.Gly2217=) c.6646G= (p.Gly2216=) c.101G= n.6732G= | |
19 | g.38496315G>T | CA405666104 | RYR1 | c.6649G>T (p.Gly2217Cys) c.6646G>T (p.Gly2216Cys) c.101G>T n.6732G>T | |
19 | g.38496316G>A | CA405666112 | RYR1 | c.6650G>A (p.Gly2217Asp) c.6647G>A (p.Gly2216Asp) c.102G>A n.6733G>A | ClinVar gnomAD v4 |
19 | g.38496316G>C | CA405666109 | RYR1 | c.6650G>C (p.Gly2217Ala) c.6647G>C (p.Gly2216Ala) c.102G>C n.6733G>C | |
19 | g.38496316G>T | CA405666108 | RYR1 | c.6650G>T (p.Gly2217Val) c.6647G>T (p.Gly2216Val) c.102G>T n.6733G>T | |
19 | g.38496317C>A | CA507353569 | RYR1 | c.6651C>A (p.Gly2217=) c.6648C>A (p.Gly2216=) c.103C>A n.6734C>A | gnomAD v3 gnomAD v4 |
19 | g.38496317C= | CA2335051180 | RYR1 | c.6651C= (p.Gly2217=) c.6648C= (p.Gly2216=) c.103C= n.6734C= | |
19 | g.38496317C>G | CA507353570 | RYR1 | c.6651C>G (p.Gly2217=) c.6648C>G (p.Gly2216=) c.103C>G n.6734C>G | |
19 | g.38496317C>T | CA068509 | RYR1 | c.6651C>T (p.Gly2217=) c.6648C>T (p.Gly2216=) c.103C>T n.6734C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38496318G>A | CA068513 | RYR1 | c.6652G>A (p.Gly2218Ser) c.6649G>A (p.Gly2217Ser) c.104G>A n.6735G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38496318G>C | CA405666115 | RYR1 | c.6652G>C (p.Gly2218Arg) c.6649G>C (p.Gly2217Arg) c.104G>C n.6735G>C | |
19 | g.38496318G= | CA2335051181 | RYR1 | c.6652G= (p.Gly2218=) c.6649G= (p.Gly2217=) c.104G= n.6735G= | |
19 | g.38496318G>T | CA405666119 | RYR1 | c.6652G>T (p.Gly2218Cys) c.6649G>T (p.Gly2217Cys) c.104G>T n.6735G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38496319G>A | CA405666120 | RYR1 | c.6653G>A (p.Gly2218Asp) c.6650G>A (p.Gly2217Asp) c.105G>A n.6736G>A | dbSNP gnomAD v4 |
19 | g.38496319G>C | CA405666122 | RYR1 | c.6653G>C (p.Gly2218Ala) c.6650G>C (p.Gly2217Ala) c.105G>C n.6736G>C | |
19 | g.38496319G= | CA2335051182 | RYR1 | c.6653G= (p.Gly2218=) c.6650G= (p.Gly2217=) c.105G= n.6736G= | |
19 | g.38496319G>T | CA405666121 | RYR1 | c.6653G>T (p.Gly2218Val) c.6650G>T (p.Gly2217Val) c.105G>T n.6736G>T | |
19 | g.38496320C>A | CA507353582 | RYR1 | c.6654C>A (p.Gly2218=) c.6651C>A (p.Gly2217=) c.106C>A n.6737C>A | |
19 | g.38496320C= | CA2335051183 | RYR1 | c.6654C= (p.Gly2218=) c.6651C= (p.Gly2217=) c.106C= n.6737C= | |
19 | g.38496320C>G | CA507353583 | RYR1 | c.6654C>G (p.Gly2218=) c.6651C>G (p.Gly2217=) c.106C>G n.6737C>G | |
19 | g.38496320C>T | CA068516 | RYR1 | c.6654C>T (p.Gly2218=) c.6651C>T (p.Gly2217=) c.106C>T n.6737C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496321G>A | CA068520 | RYR1 | c.6655G>A (p.Glu2219Lys) c.6652G>A (p.Glu2218Lys) c.107G>A n.6738G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496321G>C | CA405666123 | RYR1 | c.6655G>C (p.Glu2219Gln) c.6652G>C (p.Glu2218Gln) c.107G>C n.6738G>C | |
19 | g.38496321G= | CA2335051184 | RYR1 | c.6655G= (p.Glu2219=) c.6652G= (p.Glu2218=) c.107G= n.6738G= | |
19 | g.38496321G>T | CA405666124 | RYR1 | c.6655G>T (p.Glu2219Ter) c.6652G>T (p.Glu2218Ter) c.107G>T n.6738G>T | ClinVar |
19 | g.38496322A>C | CA405666125 | RYR1 | c.6656A>C (p.Glu2219Ala) c.6653A>C (p.Glu2218Ala) c.108A>C n.6739A>C | ClinVar |
19 | g.38496322A>G | CA405666126 | RYR1 | c.6656A>G (p.Glu2219Gly) c.6653A>G (p.Glu2218Gly) c.108A>G n.6739A>G | |
19 | g.38496322A>T | CA405666127 | RYR1 | c.6656A>T (p.Glu2219Val) c.6653A>T (p.Glu2218Val) c.108A>T n.6739A>T | |
19 | g.38496323G>A | CA068522 | RYR1 | c.6657G>A (p.Glu2219=) c.6654G>A (p.Glu2218=) c.109G>A n.6740G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496323G>C | CA405666128 | RYR1 | c.6657G>C (p.Glu2219Asp) c.6654G>C (p.Glu2218Asp) c.109G>C n.6740G>C | gnomAD v4 |
19 | g.38496323G= | CA2335051185 | RYR1 | c.6657G= (p.Glu2219=) c.6654G= (p.Glu2218=) c.109G= n.6740G= | |
19 | g.38496323G>T | CA405666129 | RYR1 | c.6657G>T (p.Glu2219Asp) c.6654G>T (p.Glu2218Asp) c.109G>T n.6740G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496324T>A | CA405666132 | RYR1 | c.6658T>A (p.Ser2220Thr) c.6655T>A (p.Ser2219Thr) c.110T>A n.6741T>A | |
19 | g.38496324T>C | CA405666131 | RYR1 | c.6658T>C (p.Ser2220Pro) c.6655T>C (p.Ser2219Pro) c.110T>C n.6741T>C | |
19 | g.38496324T>G | CA405666130 | RYR1 | c.6658T>G (p.Ser2220Ala) c.6655T>G (p.Ser2219Ala) c.110T>G n.6741T>G | |
19 | g.38496325C>A | CA405666133 | RYR1 | c.6659C>A (p.Ser2220Tyr) c.6656C>A (p.Ser2219Tyr) c.111C>A n.6742C>A | |
19 | g.38496325C>G | CA405666134 | RYR1 | c.6659C>G (p.Ser2220Cys) c.6656C>G (p.Ser2219Cys) c.111C>G n.6742C>G | |
19 | g.38496325C>T | CA405666135 | RYR1 | c.6659C>T (p.Ser2220Phe) c.6656C>T (p.Ser2219Phe) c.111C>T n.6742C>T | |
19 | g.38496326C>A | CA507353599 | RYR1 | c.6660C>A (p.Ser2220=) c.6657C>A (p.Ser2219=) c.112C>A n.6743C>A | |
19 | g.38496326C>G | CA507353601 | RYR1 | c.6660C>G (p.Ser2220=) c.6657C>G (p.Ser2219=) c.112C>G n.6743C>G | |
19 | g.38496326C>T | CA507353598 | RYR1 | c.6660C>T (p.Ser2220=) c.6657C>T (p.Ser2219=) c.112C>T n.6743C>T | |
19 | g.38496327A>C | CA405666136 | RYR1 | c.6661A>C (p.Lys2221Gln) c.6658A>C (p.Lys2220Gln) c.113A>C n.6744A>C | |
19 | g.38496327A>G | CA405666137 | RYR1 | c.6661A>G (p.Lys2221Glu) c.6658A>G (p.Lys2220Glu) c.113A>G n.6744A>G | |
19 | g.38496327A>T | CA405666138 | RYR1 | c.6661A>T (p.Lys2221Ter) c.6658A>T (p.Lys2220Ter) c.113A>T n.6744A>T | |
19 | g.38496328A= | CA2335051186 | RYR1 | c.6662A= (p.Lys2221=) c.6659A= (p.Lys2220=) c.114A= n.6745A= | |
19 | g.38496328A>C | CA405666139 | RYR1 | c.6662A>C (p.Lys2221Thr) c.6659A>C (p.Lys2220Thr) c.114A>C n.6745A>C | |
19 | g.38496328A>G | CA405666140 | RYR1 | c.6662A>G (p.Lys2221Arg) c.6659A>G (p.Lys2220Arg) c.114A>G n.6745A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496328A>T | CA405666141 | RYR1 | c.6662A>T (p.Lys2221Met) c.6659A>T (p.Lys2220Met) c.114A>T n.6745A>T | |
19 | g.38496329G>A | CA507353610 | RYR1 | c.6663G>A (p.Lys2221=) c.6660G>A (p.Lys2220=) c.115G>A n.6746G>A | |
19 | g.38496329G>C | CA405666142 | RYR1 | c.6663G>C (p.Lys2221Asn) c.6660G>C (p.Lys2220Asn) c.115G>C n.6746G>C | |
19 | g.38496329G>T | CA405666143 | RYR1 | c.6663G>T (p.Lys2221Asn) c.6660G>T (p.Lys2220Asn) c.115G>T n.6746G>T | |
19 | g.38496330G>A | CA068529 | RYR1 | c.6663+1G>A (n.6663+1G>A) c.6660+1G>A (n.6660+1G>A) c.115+1G>A n.6746+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496330G>C | CA405666145 | RYR1 | c.6663+1G>C (n.6663+1G>C) c.6660+1G>C (n.6660+1G>C) c.115+1G>C n.6746+1G>C | |
19 | g.38496330G= | CA2335051187 | RYR1 | c.6663+1G= (n.6663+1G=) c.6660+1G= (n.6660+1G=) c.115+1G= n.6746+1G= | |
19 | g.38496330G>T | CA405666144 | RYR1 | c.6663+1G>T (n.6663+1G>T) c.6660+1G>T (n.6660+1G>T) c.115+1G>T n.6746+1G>T | |
19 | g.38496331T>A | CA405666146 | RYR1 | c.6663+2T>A (n.6663+2T>A) c.6660+2T>A (n.6660+2T>A) c.115+2T>A n.6746+2T>A | |
19 | g.38496331T>C | CA405666147 | RYR1 | c.6663+2T>C (n.6663+2T>C) c.6660+2T>C (n.6660+2T>C) c.115+2T>C n.6746+2T>C | ClinVar |
19 | g.38496331T>G | CA405666148 | RYR1 | c.6663+2T>G (n.6663+2T>G) c.6660+2T>G (n.6660+2T>G) c.115+2T>G n.6746+2T>G | |
19 | g.38496333A>C | CA2584899572 | RYR1 | c.6663+4A>C (n.6663+4A>C) c.6660+4A>C (n.6660+4A>C) c.115+4A>C n.6746+4A>C | gnomAD v4 |
19 | g.38496334G>A | CA2584899573 | RYR1 | c.6663+5G>A (n.6663+5G>A) c.6660+5G>A (n.6660+5G>A) c.115+5G>A n.6746+5G>A | gnomAD v4 |
19 | g.38496335G>A | CA2576770961 | RYR1 | c.6663+6G>A (n.6663+6G>A) c.6660+6G>A (n.6660+6G>A) c.115+6G>A n.6746+6G>A | ClinVar gnomAD v4 |
19 | g.38496336G>A | CA915952997 | RYR1 | c.6663+7G>A (n.6663+7G>A) c.6660+7G>A (n.6660+7G>A) c.115+7G>A n.6746+7G>A | ClinVar dbSNP |
19 | g.38496336G= | CA2335051188 | RYR1 | c.6663+7G= (n.6663+7G=) c.6660+7G= (n.6660+7G=) c.115+7G= n.6746+7G= | |
19 | g.38496337C>A | CA2499585132 | RYR1 | c.6663+8C>A (n.6663+8C>A) c.6660+8C>A (n.6660+8C>A) c.115+8C>A n.6746+8C>A | ClinVar |
19 | g.38496337C= | CA2335051189 | RYR1 | c.6663+8C= (n.6663+8C=) c.6660+8C= (n.6660+8C=) c.115+8C= n.6746+8C= | |
19 | g.38496337C>G | CA633066108 | RYR1 | c.6663+8C>G (n.6663+8C>G) c.6660+8C>G (n.6660+8C>G) c.115+8C>G n.6746+8C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496338C= | CA2335051190 | RYR1 | c.6663+9C= (n.6663+9C=) c.6660+9C= (n.6660+9C=) c.115+9C= n.6746+9C= | |
19 | g.38496338C>T | CA068544 | RYR1 | c.6663+9C>T (n.6663+9C>T) c.6660+9C>T (n.6660+9C>T) c.115+9C>T n.6746+9C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496342G>T | CA2584899574 | RYR1 | c.6663+13G>T (n.6663+13G>T) c.6660+13G>T (n.6660+13G>T) c.115+13G>T n.6746+13G>T | gnomAD v4 |
19 | g.38496343C>A | CA2576770962 | RYR1 | c.6663+14C>A (n.6663+14C>A) c.6660+14C>A (n.6660+14C>A) c.115+14C>A n.6746+14C>A | gnomAD v4 |
19 | g.38496343C= | CA2335051191 | RYR1 | c.6663+14C= (n.6663+14C=) c.6660+14C= (n.6660+14C=) c.115+14C= n.6746+14C= | |
19 | g.38496343C>G | CA068526 | RYR1 | c.6663+14C>G (n.6663+14C>G) c.6660+14C>G (n.6660+14C>G) c.115+14C>G n.6746+14C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496343C>T | CA2335051192 | RYR1 | c.6663+14C>T (n.6663+14C>T) c.6660+14C>T (n.6660+14C>T) c.115+14C>T n.6746+14C>T | dbSNP |
19 | g.38496344A>G | CA2584899575 | RYR1 | c.6663+15A>G (n.6663+15A>G) c.6660+15A>G (n.6660+15A>G) c.115+15A>G n.6746+15A>G | gnomAD v4 |
19 | g.38496346G>A | CA2335051194 | RYR1 | c.6663+17G>A (n.6663+17G>A) c.6660+17G>A (n.6660+17G>A) c.115+17G>A n.6746+17G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38496346G>C | CA2580097180 | RYR1 | c.6663+17G>C (n.6663+17G>C) c.6660+17G>C (n.6660+17G>C) c.115+17G>C n.6746+17G>C | ClinVar |
19 | g.38496346G= | CA2335051193 | RYR1 | c.6663+17G= (n.6663+17G=) c.6660+17G= (n.6660+17G=) c.115+17G= n.6746+17G= | |
19 | g.38496346G>T | CA308104230 | RYR1 | c.6663+17G>T (n.6663+17G>T) c.6660+17G>T (n.6660+17G>T) c.115+17G>T n.6746+17G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38496347T>G | CA2335051196 | RYR1 | c.6663+18T>G (n.6663+18T>G) c.6660+18T>G (n.6660+18T>G) c.115+18T>G n.6746+18T>G | dbSNP |
19 | g.38496347T= | CA2335051195 | RYR1 | c.6663+18T= (n.6663+18T=) c.6660+18T= (n.6660+18T=) c.115+18T= n.6746+18T= | |
19 | g.38496348G>A | CA2584899577 | RYR1 | c.6663+19G>A (n.6663+19G>A) c.6660+19G>A (n.6660+19G>A) c.115+19G>A n.6746+19G>A | gnomAD v4 |
19 | g.38496350T>C | CA2584899578 | RYR1 | c.6663+21T>C (n.6663+21T>C) c.6660+21T>C (n.6660+21T>C) c.115+21T>C n.6746+21T>C | gnomAD v4 |
19 | g.38496350T= | CA2335051197 | RYR1 | c.6663+21T= (n.6663+21T=) c.6660+21T= (n.6660+21T=) c.115+21T= n.6746+21T= | |
19 | g.38496351G>A | CA2584899579 | RYR1 | c.6663+22G>A (n.6663+22G>A) c.6660+22G>A (n.6660+22G>A) c.115+22G>A n.6746+22G>A | gnomAD v4 |
19 | g.38496354dup | CA068530 | RYR1 | c.6663+25dup (n.6663+25dup) c.6660+25dup (n.6660+25dup) c.115+25dup n.6746+25dup | dbSNP ExAC gnomAD v2 |
19 | g.38496352G>A | CA2584899580 | RYR1 | c.6663+23G>A (n.6663+23G>A) c.6660+23G>A (n.6660+23G>A) c.115+23G>A n.6746+23G>A | gnomAD v4 |
19 | g.38496353G>A | CA2814345950 | RYR1 | c.6663+24G>A (n.6663+24G>A) c.6660+24G>A (n.6660+24G>A) c.115+24G>A n.6746+24G>A | |
19 | g.38496353G= | CA2335051198 | RYR1 | c.6663+24G= (n.6663+24G=) c.6660+24G= (n.6660+24G=) c.115+24G= n.6746+24G= | |
19 | g.38496353G>T | CA068531 | RYR1 | c.6663+24G>T (n.6663+24G>T) c.6660+24G>T (n.6660+24G>T) c.115+24G>T n.6746+24G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496354G>A | CA2584899582 | RYR1 | c.6663+25G>A (n.6663+25G>A) c.6660+25G>A (n.6660+25G>A) c.115+25G>A n.6746+25G>A | gnomAD v4 |
19 | g.38496355A= | CA2335051199 | RYR1 | c.6663+26A= (n.6663+26A=) c.6660+26A= (n.6660+26A=) c.115+26A= n.6746+26A= | |
19 | g.38496355A>G | CA068533 | RYR1 | c.6663+26A>G (n.6663+26A>G) c.6660+26A>G (n.6660+26A>G) c.115+26A>G n.6746+26A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496355A>T | CA068537 | RYR1 | c.6663+26A>T (n.6663+26A>T) c.6660+26A>T (n.6660+26A>T) c.115+26A>T n.6746+26A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496356G>A | CA2584899583 | RYR1 | c.6663+27G>A (n.6663+27G>A) c.6660+27G>A (n.6660+27G>A) c.115+27G>A n.6746+27G>A | gnomAD v4 |
19 | g.38496358T>A | CA2335051201 | RYR1 | c.6663+29T>A (n.6663+29T>A) c.6660+29T>A (n.6660+29T>A) c.115+29T>A n.6746+29T>A | dbSNP |
19 | g.38496358T= | CA2335051200 | RYR1 | c.6663+29T= (n.6663+29T=) c.6660+29T= (n.6660+29T=) c.115+29T= n.6746+29T= | |
19 | g.38496359C>A | CA882058982 | RYR1 | c.6663+30C>A (n.6663+30C>A) c.6660+30C>A (n.6660+30C>A) c.115+30C>A n.6746+30C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38496359C= | CA2335051202 | RYR1 | c.6663+30C= (n.6663+30C=) c.6660+30C= (n.6660+30C=) c.115+30C= n.6746+30C= | |
19 | g.38496359C>T | CA2584899584 | RYR1 | c.6663+30C>T (n.6663+30C>T) c.6660+30C>T (n.6660+30C>T) c.115+30C>T n.6746+30C>T | gnomAD v4 |
19 | g.38496359_38496369delinsCAGGGGAGGCA | CA2335051203 | RYR1 | c.6663+30_6664-40delinsCAGGGGAGGCA (n.6663+30_6664-40delinsCAGGGGAGGCA) c.6660+30_6661-40delinsCAGGGGAGGCA (n.6660+30_6661-40delinsCAGGGGAGGCA) c.115+30_116-40delinsCAGGGGAGGCA n.6746+30_6747-40delinsCAGGGGAGGCA | |
19 | g.38496360A>C | CA2584899585 | RYR1 | c.6663+31A>C (n.6663+31A>C) c.6660+31A>C (n.6660+31A>C) c.115+31A>C n.6746+31A>C | gnomAD v4 |
19 | g.38496360A>G | CA2576770964 | RYR1 | c.6663+31A>G (n.6663+31A>G) c.6660+31A>G (n.6660+31A>G) c.115+31A>G n.6746+31A>G | |
19 | g.38496360_38496361del | CA2576770963 | RYR1 | c.6663+31_6663+32del (n.6663+31_6663+32del) c.6660+31_6660+32del (n.6660+31_6660+32del) c.115+31_115+32del n.6746+31_6746+32del | gnomAD v4 |
19 | g.38496360_38496369del | CA068541 | RYR1 | c.6663+31_6664-40del (n.6663+31_6664-40del) c.6660+31_6661-40del (n.6660+31_6661-40del) c.115+31_116-40del n.6746+31_6747-40del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496362G>A | CA2814345951 | RYR1 | c.6663+33G>A (n.6663+33G>A) c.6660+33G>A (n.6660+33G>A) c.115+33G>A n.6746+33G>A | |
19 | g.38496363G>A | CA633066109 | RYR1 | c.6663+34G>A (n.6663+34G>A) c.6660+34G>A (n.6660+34G>A) c.115+34G>A n.6746+34G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496363G>C | CA633066110 | RYR1 | c.6663+34G>C (n.6663+34G>C) c.6660+34G>C (n.6660+34G>C) c.115+34G>C n.6746+34G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496363G= | CA2335051204 | RYR1 | c.6663+34G= (n.6663+34G=) c.6660+34G= (n.6660+34G=) c.115+34G= n.6746+34G= | |
19 | g.38496364G>A | CA633066111 | RYR1 | c.6663+35G>A (n.6663+35G>A) c.6660+35G>A (n.6660+35G>A) c.115+35G>A n.6746+35G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496364G>C | CA2576770965 | RYR1 | c.6663+35G>C (n.6663+35G>C) c.6660+35G>C (n.6660+35G>C) c.115+35G>C n.6746+35G>C | |
19 | g.38496364G= | CA2335051205 | RYR1 | c.6663+35G= (n.6663+35G=) c.6660+35G= (n.6660+35G=) c.115+35G= n.6746+35G= | |
19 | g.38496365A= | CA2335051206 | RYR1 | c.6663+36A= (n.6663+36A=) c.6660+36A= (n.6660+36A=) c.115+36A= n.6746+36A= | |
19 | g.38496366G>A | CA2576770966 | RYR1 | c.6663+37G>A (n.6663+37G>A) c.6660+37G>A (n.6660+37G>A) c.115+37G>A n.6746+37G>A | |
19 | g.38496367dup | CA995713939 | RYR1 | c.6663+38dup (n.6663+38dup) c.6660+38dup (n.6660+38dup) c.115+38dup n.6746+38dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38496367G>A | CA068543 | RYR1 | c.6663+38G>A (n.6663+38G>A) c.6660+38G>A (n.6660+38G>A) c.115+38G>A n.6746+38G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38496367G>C | CA2584899586 | RYR1 | c.6663+38G>C (n.6663+38G>C) c.6660+38G>C (n.6660+38G>C) c.115+38G>C n.6746+38G>C | gnomAD v4 |
19 | g.38496367G= | CA2335051207 | RYR1 | c.6663+38G= (n.6663+38G=) c.6660+38G= (n.6660+38G=) c.115+38G= n.6746+38G= | |
19 | g.38496368C>T | CA2584899587 | RYR1 | c.6663+39C>T (n.6663+39C>T) c.6660+39C>T (n.6660+39C>T) c.115+39C>T n.6746+39C>T | gnomAD v4 |
19 | g.38496373_38496387del | CA2584899588 | RYR1 | c.6664-36_6664-22del (n.6664-36_6664-22del) c.6661-36_6661-22del (n.6661-36_6661-22del) c.116-36_116-22del n.6747-36_6747-22del | gnomAD v4 |
19 | g.38496372C= | CA2335051208 | RYR1 | c.6664-37C= (n.6664-37C=) c.6661-37C= (n.6661-37C=) c.116-37C= n.6747-37C= | |
19 | g.38496372C>T | CA633066112 | RYR1 | c.6664-37C>T (n.6664-37C>T) c.6661-37C>T (n.6661-37C>T) c.116-37C>T n.6747-37C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38496377A= | CA2335051209 | RYR1 | c.6664-32A= (n.6664-32A=) c.6661-32A= (n.6661-32A=) c.116-32A= n.6747-32A= | |
19 | g.38496377A>C | CA2581382498 | RYR1 | c.6664-32A>C (n.6664-32A>C) c.6661-32A>C (n.6661-32A>C) c.116-32A>C n.6747-32A>C | |
19 | g.38496377A>G | CA068554 | RYR1 | c.6664-32A>G (n.6664-32A>G) c.6661-32A>G (n.6661-32A>G) c.116-32A>G n.6747-32A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496377A>T | CA2581382497 | RYR1 | c.6664-32A>T (n.6664-32A>T) c.6661-32A>T (n.6661-32A>T) c.116-32A>T n.6747-32A>T | |
19 | g.38496378G>A | CA633066113 | RYR1 | c.6664-31G>A (n.6664-31G>A) c.6661-31G>A (n.6661-31G>A) c.116-31G>A n.6747-31G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38496378G= | CA2335051210 | RYR1 | c.6664-31G= (n.6664-31G=) c.6661-31G= (n.6661-31G=) c.116-31G= n.6747-31G= | |
19 | g.38496379G>C | CA882059010 | RYR1 | c.6664-30G>C (n.6664-30G>C) c.6661-30G>C (n.6661-30G>C) c.116-30G>C n.6747-30G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38496379G= | CA2335051211 | RYR1 | c.6664-30G= (n.6664-30G=) c.6661-30G= (n.6661-30G=) c.116-30G= n.6747-30G= | |
19 | g.38496385_38496409del | CA2584899589 | RYR1 | c.6664-24_6664del c.6661-24_6661del c.116-24_116del n.6747-24_6747del | gnomAD v4 |