Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38503070C>A | CA2576771157 | RYR1 | c.7926+100C>A (n.7926+100C>A) c.7923+100C>A (n.7923+100C>A) c.1378+100C>A n.8009+100C>A | gnomAD v4 |
19 | g.38503070C>G | CA2576771158 | RYR1 | c.7926+100C>G (n.7926+100C>G) c.7923+100C>G (n.7923+100C>G) c.1378+100C>G n.8009+100C>G | gnomAD v4 |
19 | g.38503070C>T | CA2576771159 | RYR1 | c.7926+100C>T (n.7926+100C>T) c.7923+100C>T (n.7923+100C>T) c.1378+100C>T n.8009+100C>T | gnomAD v4 |
19 | g.38503071C>A | CA2584901205 | RYR1 | c.7926+101C>A (n.7926+101C>A) c.7923+101C>A (n.7923+101C>A) c.1378+101C>A n.8009+101C>A | gnomAD v4 |
19 | g.38503071C>T | CA2584901204 | RYR1 | c.7926+101C>T (n.7926+101C>T) c.7923+101C>T (n.7923+101C>T) c.1378+101C>T n.8009+101C>T | gnomAD v4 |
19 | g.38503072A= | CA2335054935 | RYR1 | c.7926+102A= (n.7926+102A=) c.7923+102A= (n.7923+102A=) c.1378+102A= n.8009+102A= | |
19 | g.38503072A>C | CA2335054936 | RYR1 | c.7926+102A>C (n.7926+102A>C) c.7923+102A>C (n.7923+102A>C) c.1378+102A>C n.8009+102A>C | dbSNP |
19 | g.38503072A>G | CA2335054937 | RYR1 | c.7926+102A>G (n.7926+102A>G) c.7923+102A>G (n.7923+102A>G) c.1378+102A>G n.8009+102A>G | dbSNP gnomAD v4 |
19 | g.38503073A= | CA2335054938 | RYR1 | c.7926+103A= (n.7926+103A=) c.7923+103A= (n.7923+103A=) c.1378+103A= n.8009+103A= | |
19 | g.38503073A>G | CA308113795 | RYR1 | c.7926+103A>G (n.7926+103A>G) c.7923+103A>G (n.7923+103A>G) c.1378+103A>G n.8009+103A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38503074T>A | CA308113807 | RYR1 | c.7926+104T>A (n.7926+104T>A) c.7923+104T>A (n.7923+104T>A) c.1378+104T>A n.8009+104T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503074T= | CA2335054939 | RYR1 | c.7926+104T= (n.7926+104T=) c.7923+104T= (n.7923+104T=) c.1378+104T= n.8009+104T= | |
19 | g.38503075A>T | CA2736032523 | RYR1 | c.7926+105A>T (n.7926+105A>T) c.7923+105A>T (n.7923+105A>T) c.1378+105A>T n.8009+105A>T | dbSNP |
19 | g.38503077A>C | CA2584901206 | RYR1 | c.7926+107A>C (n.7926+107A>C) c.7923+107A>C (n.7923+107A>C) c.1378+107A>C n.8009+107A>C | gnomAD v4 |
19 | g.38503078C>A | CA882054780 | RYR1 | c.7926+108C>A (n.7926+108C>A) c.7923+108C>A (n.7923+108C>A) c.1378+108C>A n.8009+108C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503078C= | CA2335054940 | RYR1 | c.7926+108C= (n.7926+108C=) c.7923+108C= (n.7923+108C=) c.1378+108C= n.8009+108C= | |
19 | g.38503078C>T | CA308113808 | RYR1 | c.7926+108C>T (n.7926+108C>T) c.7923+108C>T (n.7923+108C>T) c.1378+108C>T n.8009+108C>T | dbSNP |
19 | g.38503079C>A | CA2584901207 | RYR1 | c.7926+109C>A (n.7926+109C>A) c.7923+109C>A (n.7923+109C>A) c.1378+109C>A n.8009+109C>A | gnomAD v4 |
19 | g.38503079C= | CA2335054941 | RYR1 | c.7926+109C= (n.7926+109C=) c.7923+109C= (n.7923+109C=) c.1378+109C= n.8009+109C= | |
19 | g.38503079C>G | CA2584901208 | RYR1 | c.7926+109C>G (n.7926+109C>G) c.7923+109C>G (n.7923+109C>G) c.1378+109C>G n.8009+109C>G | gnomAD v4 |
19 | g.38503079C>T | CA2335054942 | RYR1 | c.7926+109C>T (n.7926+109C>T) c.7923+109C>T (n.7923+109C>T) c.1378+109C>T n.8009+109C>T | dbSNP gnomAD v4 |
19 | g.38503080T>A | CA882054783 | RYR1 | c.7926+110T>A (n.7926+110T>A) c.7923+110T>A (n.7923+110T>A) c.1378+110T>A n.8009+110T>A | dbSNP |
19 | g.38503080T>C | CA995719450 | RYR1 | c.7926+110T>C (n.7926+110T>C) c.7923+110T>C (n.7923+110T>C) c.1378+110T>C n.8009+110T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503080T= | CA2335054943 | RYR1 | c.7926+110T= (n.7926+110T=) c.7923+110T= (n.7923+110T=) c.1378+110T= n.8009+110T= | |
19 | g.38503081G>A | CA2335054945 | RYR1 | c.7926+111G>A (n.7926+111G>A) c.7923+111G>A (n.7923+111G>A) c.1378+111G>A n.8009+111G>A | dbSNP gnomAD v4 |
19 | g.38503081G>C | CA2584901209 | RYR1 | c.7926+111G>C (n.7926+111G>C) c.7923+111G>C (n.7923+111G>C) c.1378+111G>C n.8009+111G>C | gnomAD v4 |
19 | g.38503081G= | CA2335054944 | RYR1 | c.7926+111G= (n.7926+111G=) c.7923+111G= (n.7923+111G=) c.1378+111G= n.8009+111G= | |
19 | g.38503081G>T | CA308113813 | RYR1 | c.7926+111G>T (n.7926+111G>T) c.7923+111G>T (n.7923+111G>T) c.1378+111G>T n.8009+111G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38503082C>A | CA2584901211 | RYR1 | c.7926+112C>A (n.7926+112C>A) c.7923+112C>A (n.7923+112C>A) c.1378+112C>A n.8009+112C>A | gnomAD v4 |
19 | g.38503082C= | CA2335054946 | RYR1 | c.7926+112C= (n.7926+112C=) c.7923+112C= (n.7923+112C=) c.1378+112C= n.8009+112C= | |
19 | g.38503082C>G | CA2335054947 | RYR1 | c.7926+112C>G (n.7926+112C>G) c.7923+112C>G (n.7923+112C>G) c.1378+112C>G n.8009+112C>G | dbSNP |
19 | g.38503082C>T | CA2584901210 | RYR1 | c.7926+112C>T (n.7926+112C>T) c.7923+112C>T (n.7923+112C>T) c.1378+112C>T n.8009+112C>T | gnomAD v4 |
19 | g.38503082_38503083insCCTA | CA2584901213 | RYR1 | c.7926+112_7926+113insCCTA (n.7926+112_7926+113insCCTA) c.7923+112_7923+113insCCTA (n.7923+112_7923+113insCCTA) c.1378+112_1378+113insCCTA n.8009+112_8009+113insCCTA | gnomAD v4 |
19 | g.38503083A= | CA2335054948 | RYR1 | c.7926+113A= (n.7926+113A=) c.7923+113A= (n.7923+113A=) c.1378+113A= n.8009+113A= | |
19 | g.38503083A>C | CA2584901212 | RYR1 | c.7926+113A>C (n.7926+113A>C) c.7923+113A>C (n.7923+113A>C) c.1378+113A>C n.8009+113A>C | gnomAD v4 |
19 | g.38503083A>G | CA308113828 | RYR1 | c.7926+113A>G (n.7926+113A>G) c.7923+113A>G (n.7923+113A>G) c.1378+113A>G n.8009+113A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503084C>A | CA633066185 | RYR1 | c.7926+114C>A (n.7926+114C>A) c.7923+114C>A (n.7923+114C>A) c.1378+114C>A n.8009+114C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38503084C= | CA2335054949 | RYR1 | c.7926+114C= (n.7926+114C=) c.7923+114C= (n.7923+114C=) c.1378+114C= n.8009+114C= | |
19 | g.38503084C>G | CA2814347408 | RYR1 | c.7926+114C>G (n.7926+114C>G) c.7923+114C>G (n.7923+114C>G) c.1378+114C>G n.8009+114C>G | |
19 | g.38503086A>C | CA2814347409 | RYR1 | c.7926+116A>C (n.7926+116A>C) c.7923+116A>C (n.7923+116A>C) c.1378+116A>C n.8009+116A>C | |
19 | g.38503086A>G | CA2584901214 | RYR1 | c.7926+116A>G (n.7926+116A>G) c.7923+116A>G (n.7923+116A>G) c.1378+116A>G n.8009+116A>G | dbSNP gnomAD v4 |
19 | g.38503086_38503103delinsAGTTAGGGCAGCGTCCCC | CA2335054950 | RYR1 | c.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC (n.7926+116_7926+133delinsAGTTAGGGCAGCGTCCCC) c.7923+116_7923+133delinsAGTTAGGGCAGCGTCCCC (n.7923+116_7923+133delinsAGTTAGGGCAGCGTCCCC) c.1378+116_1378+133delinsAGTTAGGGCAGCGTCCCC n.8009+116_8009+133delinsAGTTAGGGCAGCGTCCCC | |
19 | g.38503087G>A | CA2584901215 | RYR1 | c.7926+117G>A (n.7926+117G>A) c.7923+117G>A (n.7923+117G>A) c.1378+117G>A n.8009+117G>A | gnomAD v4 |
19 | g.38503089_38503105del | CA995719456 | RYR1 | c.7926+119_7926+135del (n.7926+119_7926+135del) c.7923+119_7923+135del (n.7923+119_7923+135del) c.1378+119_1378+135del n.8009+119_8009+135del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503088T>C | CA308113831 | RYR1 | c.7926+118T>C (n.7926+118T>C) c.7923+118T>C (n.7923+118T>C) c.1378+118T>C n.8009+118T>C | dbSNP gnomAD v4 |
19 | g.38503088T= | CA2335054951 | RYR1 | c.7926+118T= (n.7926+118T=) c.7923+118T= (n.7923+118T=) c.1378+118T= n.8009+118T= | |
19 | g.38503089T>C | CA882054799 | RYR1 | c.7926+119T>C (n.7926+119T>C) c.7923+119T>C (n.7923+119T>C) c.1378+119T>C n.8009+119T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503089T= | CA2335054952 | RYR1 | c.7926+119T= (n.7926+119T=) c.7923+119T= (n.7923+119T=) c.1378+119T= n.8009+119T= | |
19 | g.38503089_38503092del | CA2584901216 | RYR1 | c.7926+119_7926+122del (n.7926+119_7926+122del) c.7923+119_7923+122del (n.7923+119_7923+122del) c.1378+119_1378+122del n.8009+119_8009+122del | gnomAD v4 |
19 | g.38503090del | CA2584901217 | RYR1 | c.7926+120del (n.7926+120del) c.7923+120del (n.7923+120del) c.1378+120del n.8009+120del | gnomAD v4 |
19 | g.38503090A>T | CA2584901218 | RYR1 | c.7926+120A>T (n.7926+120A>T) c.7923+120A>T (n.7923+120A>T) c.1378+120A>T n.8009+120A>T | gnomAD v4 |
19 | g.38503091G>A | CA2584901219 | RYR1 | c.7926+121G>A (n.7926+121G>A) c.7923+121G>A (n.7923+121G>A) c.1378+121G>A n.8009+121G>A | gnomAD v4 |
19 | g.38503091G>T | CA2537214704 | RYR1 | c.7926+121G>T (n.7926+121G>T) c.7923+121G>T (n.7923+121G>T) c.1378+121G>T n.8009+121G>T | |
19 | g.38503094C>A | CA2584901220 | RYR1 | c.7926+124C>A (n.7926+124C>A) c.7923+124C>A (n.7923+124C>A) c.1378+124C>A n.8009+124C>A | gnomAD v4 |
19 | g.38503094C>G | CA2584901221 | RYR1 | c.7926+124C>G (n.7926+124C>G) c.7923+124C>G (n.7923+124C>G) c.1378+124C>G n.8009+124C>G | gnomAD v4 |
19 | g.38503094C>T | CA2584901222 | RYR1 | c.7926+124C>T (n.7926+124C>T) c.7923+124C>T (n.7923+124C>T) c.1378+124C>T n.8009+124C>T | gnomAD v4 |
19 | g.38503095A>G | CA2584901223 | RYR1 | c.7926+125A>G (n.7926+125A>G) c.7923+125A>G (n.7923+125A>G) c.1378+125A>G n.8009+125A>G | gnomAD v4 |
19 | g.38503096G>C | CA2335054954 | RYR1 | c.7926+126G>C (n.7926+126G>C) c.7923+126G>C (n.7923+126G>C) c.1378+126G>C n.8009+126G>C | dbSNP gnomAD v4 |
19 | g.38503096G= | CA2335054953 | RYR1 | c.7926+126G= (n.7926+126G=) c.7923+126G= (n.7923+126G=) c.1378+126G= n.8009+126G= | |
19 | g.38503097del | CA2584901226 | RYR1 | c.7926+127del (n.7926+127del) c.7923+127del (n.7923+127del) c.1378+127del n.8009+127del | gnomAD v4 |
19 | g.38503097C>A | CA2584901227 | RYR1 | c.7926+127C>A (n.7926+127C>A) c.7923+127C>A (n.7923+127C>A) c.1378+127C>A n.8009+127C>A | gnomAD v4 |
19 | g.38503097C>G | CA2584901225 | RYR1 | c.7926+127C>G (n.7926+127C>G) c.7923+127C>G (n.7923+127C>G) c.1378+127C>G n.8009+127C>G | gnomAD v4 |
19 | g.38503097C>T | CA2584901224 | RYR1 | c.7926+127C>T (n.7926+127C>T) c.7923+127C>T (n.7923+127C>T) c.1378+127C>T n.8009+127C>T | gnomAD v4 |
19 | g.38503100_38503105dup | CA995719461 | RYR1 | c.7926+130_7926+135dup (n.7926+130_7926+135dup) c.7923+130_7923+135dup (n.7923+130_7923+135dup) c.1378+130_1378+135dup n.8009+130_8009+135dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503098G>A | CA2335054956 | RYR1 | c.7926+128G>A (n.7926+128G>A) c.7923+128G>A (n.7923+128G>A) c.1378+128G>A n.8009+128G>A | dbSNP gnomAD v4 |
19 | g.38503098G>C | CA633066186 | RYR1 | c.7926+128G>C (n.7926+128G>C) c.7923+128G>C (n.7923+128G>C) c.1378+128G>C n.8009+128G>C | dbSNP gnomAD v2 |
19 | g.38503098G= | CA2335054955 | RYR1 | c.7926+128G= (n.7926+128G=) c.7923+128G= (n.7923+128G=) c.1378+128G= n.8009+128G= | |
19 | g.38503098G>T | CA2584901228 | RYR1 | c.7926+128G>T (n.7926+128G>T) c.7923+128G>T (n.7923+128G>T) c.1378+128G>T n.8009+128G>T | gnomAD v4 |
19 | g.38503099T>A | CA2584901229 | RYR1 | c.7926+129T>A (n.7926+129T>A) c.7923+129T>A (n.7923+129T>A) c.1378+129T>A n.8009+129T>A | gnomAD v4 |
19 | g.38503099_38503100delinsTC | CA2335054957 | RYR1 | c.7926+129_7926+130delinsTC (n.7926+129_7926+130delinsTC) c.7923+129_7923+130delinsTC (n.7923+129_7923+130delinsTC) c.1378+129_1378+130delinsTC n.8009+129_8009+130delinsTC | |
19 | g.38503100C= | CA2335054958 | RYR1 | c.7926+130C= (n.7926+130C=) c.7923+130C= (n.7923+130C=) c.1378+130C= n.8009+130C= | |
19 | g.38503100C>T | CA882054809 | RYR1 | c.7926+130C>T (n.7926+130C>T) c.7923+130C>T (n.7923+130C>T) c.1378+130C>T n.8009+130C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503102_38503103dup | CA2335054959 | RYR1 | c.7926+132_7926+133dup (n.7926+132_7926+133dup) c.7923+132_7923+133dup (n.7923+132_7923+133dup) c.1378+132_1378+133dup n.8009+132_8009+133dup | dbSNP gnomAD v4 |
19 | g.38503103del | CA995719462 | RYR1 | c.7926+133del (n.7926+133del) c.7923+133del (n.7923+133del) c.1378+133del n.8009+133del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503101C>A | CA2584901230 | RYR1 | c.7926+131C>A (n.7926+131C>A) c.7923+131C>A (n.7923+131C>A) c.1378+131C>A n.8009+131C>A | gnomAD v4 |
19 | g.38503101C>T | CA2584901231 | RYR1 | c.7926+131C>T (n.7926+131C>T) c.7923+131C>T (n.7923+131C>T) c.1378+131C>T n.8009+131C>T | gnomAD v4 |
19 | g.38503102C= | CA2335054960 | RYR1 | c.7926+132C= (n.7926+132C=) c.7923+132C= (n.7923+132C=) c.1378+132C= n.8009+132C= | |
19 | g.38503102C>T | CA2335054961 | RYR1 | c.7926+132C>T (n.7926+132C>T) c.7923+132C>T (n.7923+132C>T) c.1378+132C>T n.8009+132C>T | dbSNP gnomAD v4 |
19 | g.38503103C>A | CA2584901233 | RYR1 | c.7926+133C>A (n.7926+133C>A) c.7923+133C>A (n.7923+133C>A) c.1378+133C>A n.8009+133C>A | gnomAD v4 |
19 | g.38503103C= | CA2335054962 | RYR1 | c.7926+133C= (n.7926+133C=) c.7923+133C= (n.7923+133C=) c.1378+133C= n.8009+133C= | |
19 | g.38503103C>G | CA882054813 | RYR1 | c.7926+133C>G (n.7926+133C>G) c.7923+133C>G (n.7923+133C>G) c.1378+133C>G n.8009+133C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503103C>T | CA2584901232 | RYR1 | c.7926+133C>T (n.7926+133C>T) c.7923+133C>T (n.7923+133C>T) c.1378+133C>T n.8009+133C>T | gnomAD v4 |
19 | g.38503104G>A | CA308113836 | RYR1 | c.7926+134G>A (n.7926+134G>A) c.7923+134G>A (n.7923+134G>A) c.1378+134G>A n.8009+134G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503104G>C | CA2584901234 | RYR1 | c.7926+134G>C (n.7926+134G>C) c.7923+134G>C (n.7923+134G>C) c.1378+134G>C n.8009+134G>C | gnomAD v4 |
19 | g.38503104G= | CA2335054963 | RYR1 | c.7926+134G= (n.7926+134G=) c.7923+134G= (n.7923+134G=) c.1378+134G= n.8009+134G= | |
19 | g.38503104G>T | CA2584901235 | RYR1 | c.7926+134G>T (n.7926+134G>T) c.7923+134G>T (n.7923+134G>T) c.1378+134G>T n.8009+134G>T | gnomAD v4 |
19 | g.38503105T>A | CA2584901236 | RYR1 | c.7926+135T>A (n.7926+135T>A) c.7923+135T>A (n.7923+135T>A) c.1378+135T>A n.8009+135T>A | gnomAD v4 |
19 | g.38503105T>G | CA308113841 | RYR1 | c.7926+135T>G (n.7926+135T>G) c.7923+135T>G (n.7923+135T>G) c.1378+135T>G n.8009+135T>G | dbSNP |
19 | g.38503105T= | CA2335054964 | RYR1 | c.7926+135T= (n.7926+135T=) c.7923+135T= (n.7923+135T=) c.1378+135T= n.8009+135T= | |
19 | g.38503106A= | CA2335054965 | RYR1 | c.7926+136A= (n.7926+136A=) c.7923+136A= (n.7923+136A=) c.1378+136A= n.8009+136A= | |
19 | g.38503106A>G | CA882054817 | RYR1 | c.7926+136A>G (n.7926+136A>G) c.7923+136A>G (n.7923+136A>G) c.1378+136A>G n.8009+136A>G | dbSNP gnomAD v4 |
19 | g.38503107G>T | CA2584901237 | RYR1 | c.7926+137G>T (n.7926+137G>T) c.7923+137G>T (n.7923+137G>T) c.1378+137G>T n.8009+137G>T | gnomAD v4 |
19 | g.38503107_38503108delinsGA | CA2335054966 | RYR1 | c.7926+137_7926+138delinsGA (n.7926+137_7926+138delinsGA) c.7923+137_7923+138delinsGA (n.7923+137_7923+138delinsGA) c.1378+137_1378+138delinsGA n.8009+137_8009+138delinsGA | |
19 | g.38503108A>G | CA2584901238 | RYR1 | c.7926+138A>G (n.7926+138A>G) c.7923+138A>G (n.7923+138A>G) c.1378+138A>G n.8009+138A>G | gnomAD v4 |
19 | g.38503110del | CA882054824 | RYR1 | c.7926+140del (n.7926+140del) c.7923+140del (n.7923+140del) c.1378+140del n.8009+140del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503110A>C | CA2584901239 | RYR1 | c.7926+140A>C (n.7926+140A>C) c.7923+140A>C (n.7923+140A>C) c.1378+140A>C n.8009+140A>C | gnomAD v4 |
19 | g.38503112C>A | CA2584901240 | RYR1 | c.7926+142C>A (n.7926+142C>A) c.7923+142C>A (n.7923+142C>A) c.1378+142C>A n.8009+142C>A | gnomAD v4 |
19 | g.38503112C= | CA2335054967 | RYR1 | c.7926+142C= (n.7926+142C=) c.7923+142C= (n.7923+142C=) c.1378+142C= n.8009+142C= | |
19 | g.38503112C>G | CA633066187 | RYR1 | c.7926+142C>G (n.7926+142C>G) c.7923+142C>G (n.7923+142C>G) c.1378+142C>G n.8009+142C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38503112C>T | CA308113843 | RYR1 | c.7926+142C>T (n.7926+142C>T) c.7923+142C>T (n.7923+142C>T) c.1378+142C>T n.8009+142C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503114C>A | CA2584901241 | RYR1 | c.7926+144C>A (n.7926+144C>A) c.7923+144C>A (n.7923+144C>A) c.1378+144C>A n.8009+144C>A | gnomAD v4 |
19 | g.38503114C= | CA2335054968 | RYR1 | c.7926+144C= (n.7926+144C=) c.7923+144C= (n.7923+144C=) c.1378+144C= n.8009+144C= | |
19 | g.38503114C>G | CA2735884723 | RYR1 | c.7926+144C>G (n.7926+144C>G) c.7923+144C>G (n.7923+144C>G) c.1378+144C>G n.8009+144C>G | dbSNP |
19 | g.38503114C>T | CA308113847 | RYR1 | c.7926+144C>T (n.7926+144C>T) c.7923+144C>T (n.7923+144C>T) c.1378+144C>T n.8009+144C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503115T>C | CA2584901242 | RYR1 | c.7926+145T>C (n.7926+145T>C) c.7923+145T>C (n.7923+145T>C) c.1378+145T>C n.8009+145T>C | gnomAD v4 |
19 | g.38503115T>G | CA2584901243 | RYR1 | c.7926+145T>G (n.7926+145T>G) c.7923+145T>G (n.7923+145T>G) c.1378+145T>G n.8009+145T>G | gnomAD v4 |
19 | g.38503116T>G | CA2584901244 | RYR1 | c.7926+146T>G (n.7926+146T>G) c.7923+146T>G (n.7923+146T>G) c.1378+146T>G n.8009+146T>G | gnomAD v4 |
19 | g.38503117A>G | CA2584901245 | RYR1 | c.7926+147A>G (n.7926+147A>G) c.7923+147A>G (n.7923+147A>G) c.1378+147A>G n.8009+147A>G | gnomAD v4 |
19 | g.38503118G>T | CA2584901246 | RYR1 | c.7926+148G>T (n.7926+148G>T) c.7923+148G>T (n.7923+148G>T) c.1378+148G>T n.8009+148G>T | gnomAD v4 |
19 | g.38503119C>T | CA2584901247 | RYR1 | c.7926+149C>T (n.7926+149C>T) c.7923+149C>T (n.7923+149C>T) c.1378+149C>T n.8009+149C>T | gnomAD v4 |
19 | g.38503120_38503127delinsATCCTTAT | CA2335054969 | RYR1 | c.7926+150_7926+157delinsATCCTTAT (n.7926+150_7926+157delinsATCCTTAT) c.7923+150_7923+157delinsATCCTTAT (n.7923+150_7923+157delinsATCCTTAT) c.1378+150_1378+157delinsATCCTTAT n.8009+150_8009+157delinsATCCTTAT | |
19 | g.38503121T>C | CA2584901248 | RYR1 | c.7926+151T>C (n.7926+151T>C) c.7923+151T>C (n.7923+151T>C) c.1378+151T>C n.8009+151T>C | gnomAD v4 |
19 | g.38503122_38503128del | CA995719478 | RYR1 | c.7926+152_7926+158del (n.7926+152_7926+158del) c.7923+152_7923+158del (n.7923+152_7923+158del) c.1378+152_1378+158del n.8009+152_8009+158del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503126A= | CA2335054970 | RYR1 | c.7926+156A= (n.7926+156A=) c.7923+156A= (n.7923+156A=) c.1378+156A= n.8009+156A= | |
19 | g.38503126A>G | CA308113848 | RYR1 | c.7926+156A>G (n.7926+156A>G) c.7923+156A>G (n.7923+156A>G) c.1378+156A>G n.8009+156A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503126_38503127delinsAT | CA2335054971 | RYR1 | c.7926+156_7926+157delinsAT (n.7926+156_7926+157delinsAT) c.7923+156_7923+157delinsAT (n.7923+156_7923+157delinsAT) c.1378+156_1378+157delinsAT n.8009+156_8009+157delinsAT | |
19 | g.38503129del | CA920105628 | RYR1 | c.7926+159del (n.7926+159del) c.7923+159del (n.7923+159del) c.1378+159del n.8009+159del | dbSNP |
19 | g.38503131C= | CA2335054972 | RYR1 | c.7926+161C= (n.7926+161C=) c.7923+161C= (n.7923+161C=) c.1378+161C= n.8009+161C= | |
19 | g.38503131C>T | CA14744756 | RYR1 | c.7926+161C>T (n.7926+161C>T) c.7923+161C>T (n.7923+161C>T) c.1378+161C>T n.8009+161C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38503132A= | CA2335054973 | RYR1 | c.7926+162A= (n.7926+162A=) c.7923+162A= (n.7923+162A=) c.1378+162A= n.8009+162A= | |
19 | g.38503132A>G | CA882054835 | RYR1 | c.7926+162A>G (n.7926+162A>G) c.7923+162A>G (n.7923+162A>G) c.1378+162A>G n.8009+162A>G | dbSNP |
19 | g.38503134A= | CA2335054975 | RYR1 | c.7926+164A= (n.7926+164A=) c.7923+164A= (n.7923+164A=) c.1378+164A= n.8009+164A= | |
19 | g.38503134A>G | CA308113858 | RYR1 | c.7926+164A>G (n.7926+164A>G) c.7923+164A>G (n.7923+164A>G) c.1378+164A>G n.8009+164A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503134_38503135delinsAC | CA2335054974 | RYR1 | c.7926+164_7926+165delinsAC (n.7926+164_7926+165delinsAC) c.7923+164_7923+165delinsAC (n.7923+164_7923+165delinsAC) c.1378+164_1378+165delinsAC n.8009+164_8009+165delinsAC | |
19 | g.38503135del | CA2335054976 | RYR1 | c.7926+165del (n.7926+165del) c.7923+165del (n.7923+165del) c.1378+165del n.8009+165del | dbSNP |
19 | g.38503137A= | CA2335054977 | RYR1 | c.7926+167A= (n.7926+167A=) c.7923+167A= (n.7923+167A=) c.1378+167A= n.8009+167A= | |
19 | g.38503137A>G | CA633066188 | RYR1 | c.7926+167A>G (n.7926+167A>G) c.7923+167A>G (n.7923+167A>G) c.1378+167A>G n.8009+167A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38503143C>A | CA308113861 | RYR1 | c.7926+173C>A (n.7926+173C>A) c.7923+173C>A (n.7923+173C>A) c.1378+173C>A n.8009+173C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503143C= | CA2335054978 | RYR1 | c.7926+173C= (n.7926+173C=) c.7923+173C= (n.7923+173C=) c.1378+173C= n.8009+173C= | |
19 | g.38503143C>T | CA2335054979 | RYR1 | c.7926+173C>T (n.7926+173C>T) c.7923+173C>T (n.7923+173C>T) c.1378+173C>T n.8009+173C>T | dbSNP |
19 | g.38503144C>A | CA2541922373 | RYR1 | c.7926+174C>A (n.7926+174C>A) c.7923+174C>A (n.7923+174C>A) c.1378+174C>A n.8009+174C>A | |
19 | g.38503144C= | CA2335054980 | RYR1 | c.7926+174C= (n.7926+174C=) c.7923+174C= (n.7923+174C=) c.1378+174C= n.8009+174C= | |
19 | g.38503144C>T | CA882054843 | RYR1 | c.7926+174C>T (n.7926+174C>T) c.7923+174C>T (n.7923+174C>T) c.1378+174C>T n.8009+174C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503145C= | CA2335054981 | RYR1 | c.7926+175C= (n.7926+175C=) c.7923+175C= (n.7923+175C=) c.1378+175C= n.8009+175C= | |
19 | g.38503145C>T | CA882054846 | RYR1 | c.7926+175C>T (n.7926+175C>T) c.7923+175C>T (n.7923+175C>T) c.1378+175C>T n.8009+175C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503147G>A | CA308113864 | RYR1 | c.7926+177G>A (n.7926+177G>A) c.7923+177G>A (n.7923+177G>A) c.1378+177G>A n.8009+177G>A | dbSNP |
19 | g.38503147G= | CA2335054982 | RYR1 | c.7926+177G= (n.7926+177G=) c.7923+177G= (n.7923+177G=) c.1378+177G= n.8009+177G= | |
19 | g.38503149_38503153delinsACATT | CA2335054983 | RYR1 | c.7926+179_7926+183delinsACATT (n.7926+179_7926+183delinsACATT) c.7923+179_7923+183delinsACATT (n.7923+179_7923+183delinsACATT) c.1378+179_1378+183delinsACATT n.8009+179_8009+183delinsACATT | |
19 | g.38503150C= | CA2335054984 | RYR1 | c.7926+180C= (n.7926+180C=) c.7923+180C= (n.7923+180C=) c.1378+180C= n.8009+180C= | |
19 | g.38503150C>T | CA308113871 | RYR1 | c.7926+180C>T (n.7926+180C>T) c.7923+180C>T (n.7923+180C>T) c.1378+180C>T n.8009+180C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38503152_38503155del | CA2335054985 | RYR1 | c.7926+182_7926+185del (n.7926+182_7926+185del) c.7923+182_7923+185del (n.7923+182_7923+185del) c.1378+182_1378+185del n.8009+182_8009+185del | dbSNP |
19 | g.38503151A= | CA2335054986 | RYR1 | c.7926+181A= (n.7926+181A=) c.7923+181A= (n.7923+181A=) c.1378+181A= n.8009+181A= | |
19 | g.38503151A>G | CA882054850 | RYR1 | c.7926+181A>G (n.7926+181A>G) c.7923+181A>G (n.7923+181A>G) c.1378+181A>G n.8009+181A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503152T>C | CA308113890 | RYR1 | c.7926+182T>C (n.7926+182T>C) c.7923+182T>C (n.7923+182T>C) c.1378+182T>C n.8009+182T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38503152T>G | CA2335054988 | RYR1 | c.7926+182T>G (n.7926+182T>G) c.7923+182T>G (n.7923+182T>G) c.1378+182T>G n.8009+182T>G | dbSNP |
19 | g.38503152T= | CA2335054987 | RYR1 | c.7926+182T= (n.7926+182T=) c.7923+182T= (n.7923+182T=) c.1378+182T= n.8009+182T= | |
19 | g.38503154C= | CA2335054989 | RYR1 | c.7926+184C= (n.7926+184C=) c.7923+184C= (n.7923+184C=) c.1378+184C= n.8009+184C= | |
19 | g.38503154C>G | CA2735906347 | RYR1 | c.7926+184C>G (n.7926+184C>G) c.7923+184C>G (n.7923+184C>G) c.1378+184C>G n.8009+184C>G | dbSNP |
19 | g.38503154C>T | CA882054851 | RYR1 | c.7926+184C>T (n.7926+184C>T) c.7923+184C>T (n.7923+184C>T) c.1378+184C>T n.8009+184C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503155A= | CA2335054990 | RYR1 | c.7926+185A= (n.7926+185A=) c.7923+185A= (n.7923+185A=) c.1378+185A= n.8009+185A= | |
19 | g.38503155A>C | CA308113898 | RYR1 | c.7926+185A>C (n.7926+185A>C) c.7923+185A>C (n.7923+185A>C) c.1378+185A>C n.8009+185A>C | dbSNP |
19 | g.38503157T>C | CA2335054992 | RYR1 | c.7926+187T>C (n.7926+187T>C) c.7923+187T>C (n.7923+187T>C) c.1378+187T>C n.8009+187T>C | dbSNP |
19 | g.38503157T= | CA2335054991 | RYR1 | c.7926+187T= (n.7926+187T=) c.7923+187T= (n.7923+187T=) c.1378+187T= n.8009+187T= | |
19 | g.38503158T>C | CA995719493 | RYR1 | c.7926+188T>C (n.7926+188T>C) c.7923+188T>C (n.7923+188T>C) c.1378+188T>C n.8009+188T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503158T= | CA2335054993 | RYR1 | c.7926+188T= (n.7926+188T=) c.7923+188T= (n.7923+188T=) c.1378+188T= n.8009+188T= | |
19 | g.38503159T>C | CA2335054995 | RYR1 | c.7926+189T>C (n.7926+189T>C) c.7923+189T>C (n.7923+189T>C) c.1378+189T>C n.8009+189T>C | dbSNP |
19 | g.38503159T= | CA2335054994 | RYR1 | c.7926+189T= (n.7926+189T=) c.7923+189T= (n.7923+189T=) c.1378+189T= n.8009+189T= | |
19 | g.38503160G>C | CA995719499 | RYR1 | c.7926+190G>C (n.7926+190G>C) c.7923+190G>C (n.7923+190G>C) c.1378+190G>C n.8009+190G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503160G= | CA2335054996 | RYR1 | c.7926+190G= (n.7926+190G=) c.7923+190G= (n.7923+190G=) c.1378+190G= n.8009+190G= | |
19 | g.38503162T>G | CA2736032560 | RYR1 | c.7926+192T>G (n.7926+192T>G) c.7923+192T>G (n.7923+192T>G) c.1378+192T>G n.8009+192T>G | dbSNP |
19 | g.38503164C>A | CA2508540588 | RYR1 | c.7926+194C>A (n.7926+194C>A) c.7923+194C>A (n.7923+194C>A) c.1378+194C>A n.8009+194C>A | |
19 | g.38503164C= | CA2335054997 | RYR1 | c.7926+194C= (n.7926+194C=) c.7923+194C= (n.7923+194C=) c.1378+194C= n.8009+194C= | |
19 | g.38503164C>T | CA308113907 | RYR1 | c.7926+194C>T (n.7926+194C>T) c.7923+194C>T (n.7923+194C>T) c.1378+194C>T n.8009+194C>T | dbSNP |
19 | g.38503165A= | CA2335054998 | RYR1 | c.7926+195A= (n.7926+195A=) c.7923+195A= (n.7923+195A=) c.1378+195A= n.8009+195A= | |
19 | g.38503165A>G | CA2335054999 | RYR1 | c.7926+195A>G (n.7926+195A>G) c.7923+195A>G (n.7923+195A>G) c.1378+195A>G n.8009+195A>G | dbSNP |
19 | g.38503166T>C | CA308113920 | RYR1 | c.7926+196T>C (n.7926+196T>C) c.7923+196T>C (n.7923+196T>C) c.1378+196T>C n.8009+196T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38503166T= | CA2335055000 | RYR1 | c.7926+196T= (n.7926+196T=) c.7923+196T= (n.7923+196T=) c.1378+196T= n.8009+196T= | |
19 | g.38503169A= | CA2335055001 | RYR1 | c.7926+199A= (n.7926+199A=) c.7923+199A= (n.7923+199A=) c.1378+199A= n.8009+199A= | |
19 | g.38503169A>G | CA308113936 | RYR1 | c.7926+199A>G (n.7926+199A>G) c.7923+199A>G (n.7923+199A>G) c.1378+199A>G n.8009+199A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38503170T>C | CA995719510 | RYR1 | c.7926+200T>C (n.7926+200T>C) c.7923+200T>C (n.7923+200T>C) c.1378+200T>C n.8009+200T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38503170T>G | CA308113949 | RYR1 | c.7926+200T>G (n.7926+200T>G) c.7923+200T>G (n.7923+200T>G) c.1378+200T>G n.8009+200T>G | dbSNP |
19 | g.38503170T= | CA2335055002 | RYR1 | c.7926+200T= (n.7926+200T=) c.7923+200T= (n.7923+200T=) c.1378+200T= n.8009+200T= |