Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23415271_23415380del | CA2800863624 | MYH7 | c.5283+2_5284del | |
14 | g.23415367_23415371dup | CA704282901 | MYH7 | c.5283+14_5283+18dup (n.5283+14_5283+18dup) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23415367A>C | CA485766062 | MYH7 | c.5283+14T>G (n.5283+14T>G) | |
14 | g.23415367A>G | CA485766065 | MYH7 | c.5283+14T>C (n.5283+14T>C) | |
14 | g.23415367A>T | CA485766067 | MYH7 | c.5283+14T>A (n.5283+14T>A) | |
14 | g.23415368G>A | CA485766074 | MYH7 | c.5283+13C>T (n.5283+13C>T) | ClinVar dbSNP gnomAD v4 |
14 | g.23415368G>C | CA485766071 | MYH7 | c.5283+13C>G (n.5283+13C>G) | |
14 | g.23415368G>T | CA485766069 | MYH7 | c.5283+13C>A (n.5283+13C>A) | |
14 | g.23415369T>A | CA485766076 | MYH7 | c.5283+12A>T (n.5283+12A>T) | |
14 | g.23415369T>C | CA485766077 | MYH7 | c.5283+12A>G (n.5283+12A>G) | |
14 | g.23415369T>G | CA485766078 | MYH7 | c.5283+12A>C (n.5283+12A>C) | dbSNP |
14 | g.23415369T= | CA2123462914 | MYH7 | c.5283+12A= (n.5283+12A=) | |
14 | g.23415369_23415370delinsTG | CA2123462913 | MYH7 | c.5283+11_5283+12delinsCA (n.5283+11_5283+12delinsCA) | |
14 | g.23415370G>A | CA485766079 | MYH7 | c.5283+11C>T (n.5283+11C>T) | |
14 | g.23415370G>C | CA485766080 | MYH7 | c.5283+11C>G (n.5283+11C>G) | |
14 | g.23415370G>T | CA485766082 | MYH7 | c.5283+11C>A (n.5283+11C>A) | gnomAD v4 |
14 | g.23415374del | CA704282902 | MYH7 | c.5283+11del (n.5283+11del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23415370_23415375del | CA2499222571 | MYH7 | c.5283+6_5283+11del (n.5283+6_5283+11del) | ClinVar dbSNP |
14 | g.23415371G>A | CA485766086 | MYH7 | c.5283+10C>T (n.5283+10C>T) | gnomAD v4 |
14 | g.23415371G>C | CA485766095 | MYH7 | c.5283+10C>G (n.5283+10C>G) | |
14 | g.23415371G>T | CA485766093 | MYH7 | c.5283+10C>A (n.5283+10C>A) | |
14 | g.23415372G>A | CA485766101 | MYH7 | c.5283+9C>T (n.5283+9C>T) | |
14 | g.23415372G>C | CA485766102 | MYH7 | c.5283+9C>G (n.5283+9C>G) | ClinVar dbSNP |
14 | g.23415372G= | CA2123462917 | MYH7 | c.5283+9C= (n.5283+9C=) | |
14 | g.23415372G>T | CA485766105 | MYH7 | c.5283+9C>A (n.5283+9C>A) | |
14 | g.23415373G>A | CA485766106 | MYH7 | c.5283+8C>T (n.5283+8C>T) | |
14 | g.23415373G>C | CA485766107 | MYH7 | c.5283+8C>G (n.5283+8C>G) | |
14 | g.23415373G>T | CA485766109 | MYH7 | c.5283+8C>A (n.5283+8C>A) | |
14 | g.23415374G>A | CA045952 | MYH7 | c.5283+7C>T (n.5283+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415374G>C | CA485766113 | MYH7 | c.5283+7C>G (n.5283+7C>G) | |
14 | g.23415374G= | CA2123462932 | MYH7 | c.5283+7C= (n.5283+7C=) | |
14 | g.23415374G>T | CA485766116 | MYH7 | c.5283+7C>A (n.5283+7C>A) | |
14 | g.23415375del | CA2624232353 | MYH7 | c.5283+6del (n.5283+6del) | gnomAD v4 |
14 | g.23415375A= | CA2123462937 | MYH7 | c.5283+6T= (n.5283+6T=) | |
14 | g.23415375A>C | CA485766118 | MYH7 | c.5283+6T>G (n.5283+6T>G) | |
14 | g.23415375A>G | CA485766119 | MYH7 | c.5283+6T>C (n.5283+6T>C) | dbSNP |
14 | g.23415375A>T | CA485766120 | MYH7 | c.5283+6T>A (n.5283+6T>A) | |
14 | g.23415376C>A | CA485766123 | MYH7 | c.5283+5G>T (n.5283+5G>T) | |
14 | g.23415376C>G | CA485766130 | MYH7 | c.5283+5G>C (n.5283+5G>C) | |
14 | g.23415376C>T | CA485766126 | MYH7 | c.5283+5G>A (n.5283+5G>A) | |
14 | g.23415377T>A | CA485766133 | MYH7 | c.5283+4A>T (n.5283+4A>T) | |
14 | g.23415377T>C | CA485766134 | MYH7 | c.5283+4A>G (n.5283+4A>G) | ClinVar dbSNP |
14 | g.23415377T>G | CA485766136 | MYH7 | c.5283+4A>C (n.5283+4A>C) | ClinVar |
14 | g.23415377T= | CA2123462939 | MYH7 | c.5283+4A= (n.5283+4A=) | |
14 | g.23415378T>A | CA485766138 | MYH7 | c.5283+3A>T (n.5283+3A>T) | |
14 | g.23415378T>C | CA485766140 | MYH7 | c.5283+3A>G (n.5283+3A>G) | |
14 | g.23415378T>G | CA485766142 | MYH7 | c.5283+3A>C (n.5283+3A>C) | |
14 | g.23415378T= | CA2123462940 | MYH7 | c.5283+3A= (n.5283+3A=) | |
14 | g.23415379A>C | CA389036026 | MYH7 | c.5283+2T>G (n.5283+2T>G) | |
14 | g.23415379A>G | CA389036027 | MYH7 | c.5283+2T>C (n.5283+2T>C) | ClinVar dbSNP gnomAD v4 |
14 | g.23415379A>T | CA389036029 | MYH7 | c.5283+2T>A (n.5283+2T>A) | |
14 | g.23415379dup | CA891844054 | MYH7 | c.5283+2dup (n.5283+2dup) | ClinVar dbSNP |
14 | g.23415380C>A | CA389036035 | MYH7 | c.5283+1G>T (n.5283+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23415380C= | CA2123462949 | MYH7 | c.5283+1G= (n.5283+1G=) | |
14 | g.23415380C>G | CA389036033 | MYH7 | c.5283+1G>C (n.5283+1G>C) | |
14 | g.23415380C>T | CA045888 | MYH7 | c.5283+1G>A (n.5283+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415381A= | CA2123462954 | MYH7 | c.5283T= (p.Asp1761=) | |
14 | g.23415381A>C | CA389036039 | MYH7 | c.5283T>G (p.Asp1761Glu) | ClinVar dbSNP |
14 | g.23415381A>G | CA485766158 | MYH7 | c.5283T>C (p.Asp1761=) | |
14 | g.23415381A>T | CA389036037 | MYH7 | c.5283T>A (p.Asp1761Glu) | |
14 | g.23415382T>A | CA389036045 | MYH7 | c.5282A>T (p.Asp1761Val) | |
14 | g.23415382T>C | CA389036041 | MYH7 | c.5282A>G (p.Asp1761Gly) | |
14 | g.23415382T>G | CA389036043 | MYH7 | c.5282A>C (p.Asp1761Ala) | |
14 | g.23415383C>A | CA389036047 | MYH7 | c.5281G>T (p.Asp1761Tyr) | |
14 | g.23415383C= | CA2123462962 | MYH7 | c.5281G= (p.Asp1761=) | |
14 | g.23415383C>G | CA389036048 | MYH7 | c.5281G>C (p.Asp1761His) | |
14 | g.23415383C>T | CA389036050 | MYH7 | c.5281G>A (p.Asp1761Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
14 | g.23415384C>A | CA485766162 | MYH7 | c.5280G>T (p.Thr1760=) | gnomAD v4 |
14 | g.23415384C= | CA2123462972 | MYH7 | c.5280G= (p.Thr1760=) | |
14 | g.23415384C>G | CA485766166 | MYH7 | c.5280G>C (p.Thr1760=) | |
14 | g.23415384C>T | CA045859 | MYH7 | c.5280G>A (p.Thr1760=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415385G>A | CA015835 | MYH7 | c.5279C>T (p.Thr1760Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23415385G>C | CA389036053 | MYH7 | c.5279C>G (p.Thr1760Arg) | ClinVar dbSNP |
14 | g.23415385G= | CA2123462990 | MYH7 | c.5279C= (p.Thr1760=) | |
14 | g.23415385G>T | CA389036055 | MYH7 | c.5279C>A (p.Thr1760Lys) | ClinVar dbSNP gnomAD v4 |
14 | g.23415386T>A | CA389036056 | MYH7 | c.5278A>T (p.Thr1760Ser) | |
14 | g.23415386T>C | CA389036057 | MYH7 | c.5278A>G (p.Thr1760Ala) | |
14 | g.23415386T>G | CA389036059 | MYH7 | c.5278A>C (p.Thr1760Pro) | |
14 | g.23415387G>A | CA485766173 | MYH7 | c.5277C>T (p.Ile1759=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415387G>C | CA389036061 | MYH7 | c.5277C>G (p.Ile1759Met) | |
14 | g.23415387G= | CA2123463011 | MYH7 | c.5277C= (p.Ile1759=) | |
14 | g.23415387G>T | CA485766176 | MYH7 | c.5277C>A (p.Ile1759=) | |
14 | g.23415388A= | CA2123463025 | MYH7 | c.5276T= (p.Ile1759=) | |
14 | g.23415388A>C | CA389036063 | MYH7 | c.5276T>G (p.Ile1759Ser) | |
14 | g.23415388A>G | CA389036067 | MYH7 | c.5276T>C (p.Ile1759Thr) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23415388A>T | CA389036065 | MYH7 | c.5276T>A (p.Ile1759Asn) | |
14 | g.23415388_23415397delinsATGGCCTTCT | CA2123463022 | MYH7 | c.5267_5276delinsAGAAGGCCAT (p.Lys1756=) | |
14 | g.23415389T>A | CA389036068 | MYH7 | c.5275A>T (p.Ile1759Phe) | |
14 | g.23415389T>C | CA389036070 | MYH7 | c.5275A>G (p.Ile1759Val) | |
14 | g.23415389T>G | CA389036071 | MYH7 | c.5275A>C (p.Ile1759Leu) | |
14 | g.23415398_23415406dup | CA891844055 | MYH7 | c.5267_5275dup (p.Ala1758_Ile1759insLysLysAla) | ClinVar dbSNP |
14 | g.23415398_23415406del | CA916081702 | MYH7 | c.5267_5275del (p.Lys1756_Ala1758del) | ClinVar dbSNP |
14 | g.23415390G>A | CA485766182 | MYH7 | c.5274C>T (p.Ala1758=) | |
14 | g.23415390G>C | CA485766184 | MYH7 | c.5274C>G (p.Ala1758=) | |
14 | g.23415390G>T | CA485766187 | MYH7 | c.5274C>A (p.Ala1758=) | |
14 | g.23415391G>A | CA389036073 | MYH7 | c.5273C>T (p.Ala1758Val) | |
14 | g.23415391G>C | CA389036075 | MYH7 | c.5273C>G (p.Ala1758Gly) | |
14 | g.23415391G>T | CA389036077 | MYH7 | c.5273C>A (p.Ala1758Asp) | |
14 | g.23415392C>A | CA10583167 | MYH7 | c.5272G>T (p.Ala1758Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415392C= | CA2123463041 | MYH7 | c.5272G= (p.Ala1758=) | |
14 | g.23415392C>G | CA389036079 | MYH7 | c.5272G>C (p.Ala1758Pro) | |
14 | g.23415392C>T | CA389036080 | MYH7 | c.5272G>A (p.Ala1758Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23415393C>A | CA389036082 | MYH7 | c.5271G>T (p.Lys1757Asn) | |
14 | g.23415393C>G | CA389036084 | MYH7 | c.5271G>C (p.Lys1757Asn) | |
14 | g.23415393C>T | CA485766195 | MYH7 | c.5271G>A (p.Lys1757=) | |
14 | g.23415394T>A | CA389036090 | MYH7 | c.5270A>T (p.Lys1757Met) | |
14 | g.23415394T>C | CA389036088 | MYH7 | c.5270A>G (p.Lys1757Arg) | ClinVar dbSNP |
14 | g.23415394T>G | CA389036087 | MYH7 | c.5270A>C (p.Lys1757Thr) | |
14 | g.23415395T>A | CA389036096 | MYH7 | c.5269A>T (p.Lys1757Ter) | |
14 | g.23415395T>C | CA389036092 | MYH7 | c.5269A>G (p.Lys1757Glu) | |
14 | g.23415395T>G | CA389036094 | MYH7 | c.5269A>C (p.Lys1757Gln) | |
14 | g.23415396C>A | CA389036097 | MYH7 | c.5268G>T (p.Lys1756Asn) | |
14 | g.23415396C>G | CA389036099 | MYH7 | c.5268G>C (p.Lys1756Asn) | |
14 | g.23415396C>T | CA485766202 | MYH7 | c.5268G>A (p.Lys1756=) | |
14 | g.23415397T>A | CA389036101 | MYH7 | c.5267A>T (p.Lys1756Met) | |
14 | g.23415397T>C | CA16622067 | MYH7 | c.5267A>G (p.Lys1756Arg) | dbSNP |
14 | g.23415397T>G | CA389036103 | MYH7 | c.5267A>C (p.Lys1756Thr) | |
14 | g.23415397T= | CA2123463054 | MYH7 | c.5267A= (p.Lys1756=) | |
14 | g.23415398T>A | CA389036106 | MYH7 | c.5266A>T (p.Lys1756Ter) | |
14 | g.23415398T>C | CA389036108 | MYH7 | c.5266A>G (p.Lys1756Glu) | |
14 | g.23415398T>G | CA389036110 | MYH7 | c.5266A>C (p.Lys1756Gln) | |
14 | g.23415399G>A | CA485766211 | MYH7 | c.5265C>T (p.Ala1755=) | |
14 | g.23415399G>C | CA485766212 | MYH7 | c.5265C>G (p.Ala1755=) | |
14 | g.23415399G>T | CA485766213 | MYH7 | c.5265C>A (p.Ala1755=) | ClinVar dbSNP gnomAD v4 |
14 | g.23415399_23415407dup | CA2739277765 | MYH7 | c.5257_5265dup (p.Ala1755_Lys1756insGluLysAla) | ClinVar |
14 | g.23415400G>A | CA389036111 | MYH7 | c.5264C>T (p.Ala1755Val) | |
14 | g.23415400G>C | CA389036112 | MYH7 | c.5264C>G (p.Ala1755Gly) | |
14 | g.23415400G>T | CA389036115 | MYH7 | c.5264C>A (p.Ala1755Asp) | |
14 | g.23415401C>A | CA015826 | MYH7 | c.5263G>T (p.Ala1755Ser) | ClinVar dbSNP |
14 | g.23415401C= | CA2123463060 | MYH7 | c.5263G= (p.Ala1755=) | |
14 | g.23415401C>G | CA389036119 | MYH7 | c.5263G>C (p.Ala1755Pro) | |
14 | g.23415401C>T | CA389036120 | MYH7 | c.5263G>A (p.Ala1755Thr) | |
14 | g.23415402C>A | CA389036124 | MYH7 | c.5262G>T (p.Lys1754Asn) | |
14 | g.23415402C>G | CA389036126 | MYH7 | c.5262G>C (p.Lys1754Asn) | |
14 | g.23415402C>T | CA485766224 | MYH7 | c.5262G>A (p.Lys1754=) | ClinVar |
14 | g.23415403T>A | CA389036128 | MYH7 | c.5261A>T (p.Lys1754Met) | ClinVar dbSNP |
14 | g.23415403T>C | CA389036130 | MYH7 | c.5261A>G (p.Lys1754Arg) | |
14 | g.23415403T>G | CA389036131 | MYH7 | c.5261A>C (p.Lys1754Thr) | |
14 | g.23415404T>A | CA389036134 | MYH7 | c.5260A>T (p.Lys1754Ter) | |
14 | g.23415404T>C | CA389036135 | MYH7 | c.5260A>G (p.Lys1754Glu) | |
14 | g.23415404T>G | CA389036137 | MYH7 | c.5260A>C (p.Lys1754Gln) | |
14 | g.23415405C>A | CA389036138 | MYH7 | c.5259G>T (p.Glu1753Asp) | |
14 | g.23415405C>G | CA389036139 | MYH7 | c.5259G>C (p.Glu1753Asp) | |
14 | g.23415405C>T | CA485766235 | MYH7 | c.5259G>A (p.Glu1753=) | |
14 | g.23415408_23415410del | CA2580616563 | MYH7 | c.5257_5259del (p.Glu1753del) | ClinVar dbSNP |
14 | g.23415406T>A | CA389036141 | MYH7 | c.5258A>T (p.Glu1753Val) | |
14 | g.23415406T>C | CA389036143 | MYH7 | c.5258A>G (p.Glu1753Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415406T>G | CA389036145 | MYH7 | c.5258A>C (p.Glu1753Ala) | |
14 | g.23415406T= | CA2123463069 | MYH7 | c.5258A= (p.Glu1753=) | |
14 | g.23415407C>A | CA389036147 | MYH7 | c.5257G>T (p.Glu1753Ter) | COSMIC |
14 | g.23415407C= | CA2123463072 | MYH7 | c.5257G= (p.Glu1753=) | |
14 | g.23415407C>G | CA389036149 | MYH7 | c.5257G>C (p.Glu1753Gln) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23415407C>T | CA045838 | MYH7 | c.5257G>A (p.Glu1753Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415408C>A | CA389036151 | MYH7 | c.5256G>T (p.Glu1752Asp) | |
14 | g.23415408C= | CA2123463076 | MYH7 | c.5256G= (p.Glu1752=) | |
14 | g.23415408C>G | CA389036152 | MYH7 | c.5256G>C (p.Glu1752Asp) | |
14 | g.23415408C>T | CA485766244 | MYH7 | c.5256G>A (p.Glu1752=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23415409T>A | CA389036153 | MYH7 | c.5255A>T (p.Glu1752Val) | |
14 | g.23415409T>C | CA015818 | MYH7 | c.5255A>G (p.Glu1752Gly) | ClinVar dbSNP gnomAD v4 |
14 | g.23415409T>G | CA389036154 | MYH7 | c.5255A>C (p.Glu1752Ala) | |
14 | g.23415409T= | CA2123463083 | MYH7 | c.5255A= (p.Glu1752=) | |
14 | g.23415410C>A | CA389036156 | MYH7 | c.5254G>T (p.Glu1752Ter) | |
14 | g.23415410C= | CA2123463095 | MYH7 | c.5254G= (p.Glu1752=) | |
14 | g.23415410C>G | CA389036158 | MYH7 | c.5254G>C (p.Glu1752Gln) | |
14 | g.23415410C>T | CA015809 | MYH7 | c.5254G>A (p.Glu1752Lys) | ClinVar dbSNP |
14 | g.23415411A= | CA2123463100 | MYH7 | c.5253T= (p.Ala1751=) | |
14 | g.23415411A>C | CA485766248 | MYH7 | c.5253T>G (p.Ala1751=) | |
14 | g.23415411A>G | CA045824 | MYH7 | c.5253T>C (p.Ala1751=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415411A>T | CA485766249 | MYH7 | c.5253T>A (p.Ala1751=) | dbSNP |
14 | g.23415412G>A | CA389036162 | MYH7 | c.5252C>T (p.Ala1751Val) | |
14 | g.23415412G>C | CA389036164 | MYH7 | c.5252C>G (p.Ala1751Gly) | |
14 | g.23415412G= | CA2123463111 | MYH7 | c.5252C= (p.Ala1751=) | |
14 | g.23415412G>T | CA257809423 | MYH7 | c.5252C>A (p.Ala1751Asp) | ClinVar dbSNP |
14 | g.23415413C>A | CA389036168 | MYH7 | c.5251G>T (p.Ala1751Ser) | |
14 | g.23415413C= | CA2123463121 | MYH7 | c.5251G= (p.Ala1751=) | |
14 | g.23415413C>G | CA389036169 | MYH7 | c.5251G>C (p.Ala1751Pro) | |
14 | g.23415413C>T | CA389036171 | MYH7 | c.5251G>A (p.Ala1751Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23415414A= | CA2123463131 | MYH7 | c.5250T= (p.Asn1750=) | |
14 | g.23415414A>C | CA389036173 | MYH7 | c.5250T>G (p.Asn1750Lys) | |
14 | g.23415414A>G | CA485766253 | MYH7 | c.5250T>C (p.Asn1750=) | dbSNP |
14 | g.23415414A>T | CA389036174 | MYH7 | c.5250T>A (p.Asn1750Lys) | gnomAD v4 |
14 | g.23415415T>A | CA389036175 | MYH7 | c.5249A>T (p.Asn1750Ile) | |
14 | g.23415415T>C | CA389036177 | MYH7 | c.5249A>G (p.Asn1750Ser) | |
14 | g.23415415T>G | CA389036179 | MYH7 | c.5249A>C (p.Asn1750Thr) | |
14 | g.23415416T>A | CA389036180 | MYH7 | c.5248A>T (p.Asn1750Tyr) | |
14 | g.23415416T>C | CA389036181 | MYH7 | c.5248A>G (p.Asn1750Asp) | ClinVar dbSNP |
14 | g.23415416T>G | CA389036182 | MYH7 | c.5248A>C (p.Asn1750His) | |
14 | g.23415425_23415432dup | CA2624232388 | MYH7 | c.5241_5248dup (p.Asn1750SerfsTer18) | gnomAD v4 |
14 | g.23415417C>A | CA389036184 | MYH7 | c.5247G>T (p.Arg1749Ser) | |
14 | g.23415417C>G | CA389036185 | MYH7 | c.5247G>C (p.Arg1749Ser) | |
14 | g.23415417C>T | CA485766264 | MYH7 | c.5247G>A (p.Arg1749=) | |
14 | g.23415418C>A | CA389036187 | MYH7 | c.5246G>T (p.Arg1749Met) | |
14 | g.23415418C>G | CA389036189 | MYH7 | c.5246G>C (p.Arg1749Thr) | |
14 | g.23415418C>T | CA389036191 | MYH7 | c.5246G>A (p.Arg1749Lys) | gnomAD v4 |
14 | g.23415419T>A | CA389036196 | MYH7 | c.5245A>T (p.Arg1749Trp) | |
14 | g.23415419T>C | CA389036194 | MYH7 | c.5245A>G (p.Arg1749Gly) | ClinVar dbSNP |
14 | g.23415419T>G | CA045815 | MYH7 | c.5245A>C (p.Arg1749=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415419T= | CA2123463139 | MYH7 | c.5245A= (p.Arg1749=) | |
14 | g.23415420G>A | CA485766266 | MYH7 | c.5244C>T (p.Cys1748=) | dbSNP gnomAD v4 |
14 | g.23415420G>C | CA389036197 | MYH7 | c.5244C>G (p.Cys1748Trp) | |
14 | g.23415420G= | CA2123463151 | MYH7 | c.5244C= (p.Cys1748=) | |
14 | g.23415420G>T | CA389036198 | MYH7 | c.5244C>A (p.Cys1748Ter) | COSMIC |
14 | g.23415421C>A | CA389036200 | MYH7 | c.5243G>T (p.Cys1748Phe) | |
14 | g.23415421C= | CA2123463156 | MYH7 | c.5243G= (p.Cys1748=) | |
14 | g.23415421C>G | CA389036202 | MYH7 | c.5243G>C (p.Cys1748Ser) | |
14 | g.23415421C>T | CA015800 | MYH7 | c.5243G>A (p.Cys1748Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415422A>C | CA389036204 | MYH7 | c.5242T>G (p.Cys1748Gly) | |
14 | g.23415422A>G | CA389036205 | MYH7 | c.5242T>C (p.Cys1748Arg) | |
14 | g.23415422A>T | CA389036207 | MYH7 | c.5242T>A (p.Cys1748Ser) | |
14 | g.23415423C>A | CA389036209 | MYH7 | c.5241G>T (p.Glu1747Asp) | |
14 | g.23415423C>G | CA389036213 | MYH7 | c.5241G>C (p.Glu1747Asp) | |
14 | g.23415423C>T | CA485766276 | MYH7 | c.5241G>A (p.Glu1747=) | |
14 | g.23415424T>A | CA389036215 | MYH7 | c.5240A>T (p.Glu1747Val) | |
14 | g.23415424T>C | CA389036217 | MYH7 | c.5240A>G (p.Glu1747Gly) | |
14 | g.23415424T>G | CA389036218 | MYH7 | c.5240A>C (p.Glu1747Ala) | |
14 | g.23415424_23415425delinsTC | CA2123463162 | MYH7 | c.5239_5240delinsGA (p.Glu1747=) | |
14 | g.23415425C>A | CA389036223 | MYH7 | c.5239G>T (p.Glu1747Ter) | |
14 | g.23415425C>G | CA389036221 | MYH7 | c.5239G>C (p.Glu1747Gln) | |
14 | g.23415425C>T | CA389036222 | MYH7 | c.5239G>A (p.Glu1747Lys) | ClinVar gnomAD v4 COSMIC |
14 | g.23415426del | CA2123463165 | MYH7 | c.5239del (p.Glu1747SerfsTer18) | ClinVar dbSNP |
14 | g.23415426C>A | CA389036225 | MYH7 | c.5238G>T (p.Gln1746His) | dbSNP gnomAD v4 |
14 | g.23415426C= | CA2123463169 | MYH7 | c.5238G= (p.Gln1746=) | |
14 | g.23415426C>G | CA389036226 | MYH7 | c.5238G>C (p.Gln1746His) | |
14 | g.23415426C>T | CA485766287 | MYH7 | c.5238G>A (p.Gln1746=) | |
14 | g.23415427T>A | CA389036228 | MYH7 | c.5237A>T (p.Gln1746Leu) | |
14 | g.23415427T>C | CA389036230 | MYH7 | c.5237A>G (p.Gln1746Arg) | |
14 | g.23415427T>G | CA389036231 | MYH7 | c.5237A>C (p.Gln1746Pro) | |
14 | g.23415428G>A | CA389036232 | MYH7 | c.5236C>T (p.Gln1746Ter) | |
14 | g.23415428G>C | CA389036233 | MYH7 | c.5236C>G (p.Gln1746Glu) | gnomAD v4 |
14 | g.23415428G>T | CA389036234 | MYH7 | c.5236C>A (p.Gln1746Lys) | |
14 | g.23415429C>A | CA045787 | MYH7 | c.5235G>T (p.Val1745=) | dbSNP ExAC |
14 | g.23415429C= | CA2123463173 | MYH7 | c.5235G= (p.Val1745=) | |
14 | g.23415429C>G | CA485766292 | MYH7 | c.5235G>C (p.Val1745=) | |
14 | g.23415429C>T | CA485766289 | MYH7 | c.5235G>A (p.Val1745=) | |
14 | g.23415433_23415444dup | CA2800863647 | MYH7 | c.5224_5235dup (p.Val1745_Gln1746insGluGluAlaVal) | |
14 | g.23415430A= | CA2123463182 | MYH7 | c.5234T= (p.Val1745=) | |
14 | g.23415430A>C | CA389036236 | MYH7 | c.5234T>G (p.Val1745Gly) | |
14 | g.23415430A>G | CA045772 | MYH7 | c.5234T>C (p.Val1745Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23415430A>T | CA389036238 | MYH7 | c.5234T>A (p.Val1745Glu) | |
14 | g.23415431C>A | CA389036241 | MYH7 | c.5233G>T (p.Val1745Leu) | |
14 | g.23415431C>G | CA389036243 | MYH7 | c.5233G>C (p.Val1745Leu) | |
14 | g.23415431C>T | CA389036240 | MYH7 | c.5233G>A (p.Val1745Met) | |
14 | g.23415432T>A | CA485766297 | MYH7 | c.5232A>T (p.Ala1744=) | |
14 | g.23415432T>C | CA485766299 | MYH7 | c.5232A>G (p.Ala1744=) | dbSNP |
14 | g.23415432T>G | CA485766301 | MYH7 | c.5232A>C (p.Ala1744=) | |
14 | g.23415432T= | CA2123463186 | MYH7 | c.5232A= (p.Ala1744=) | |
14 | g.23415433G>A | CA045759 | MYH7 | c.5231C>T (p.Ala1744Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23415433G>C | CA389036246 | MYH7 | c.5231C>G (p.Ala1744Gly) | |
14 | g.23415433G= | CA2123463192 | MYH7 | c.5231C= (p.Ala1744=) | |
14 | g.23415433G>T | CA045751 | MYH7 | c.5231C>A (p.Ala1744Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.23415434C>A | CA045746 | MYH7 | c.5230G>T (p.Ala1744Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23415434C= | CA2123463198 | MYH7 | c.5230G= (p.Ala1744=) | |
14 | g.23415434C>G | CA389036250 | MYH7 | c.5230G>C (p.Ala1744Pro) | |
14 | g.23415434C>T | CA389036248 | MYH7 | c.5230G>A (p.Ala1744Thr) | gnomAD v4 COSMIC |
14 | g.23415435del | CA2575486299 | MYH7 | c.5230del (p.Ala1744GlnfsTer21) | |
14 | g.23415435C>A | CA015789 | MYH7 | c.5229G>T (p.Glu1743Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415435C= | CA2123463208 | MYH7 | c.5229G= (p.Glu1743=) | |
14 | g.23415435C>G | CA389036252 | MYH7 | c.5229G>C (p.Glu1743Asp) | |
14 | g.23415435C>T | CA485766307 | MYH7 | c.5229G>A (p.Glu1743=) | |
14 | g.23415436T>A | CA389036253 | MYH7 | c.5228A>T (p.Glu1743Val) | |
14 | g.23415436T>C | CA389036254 | MYH7 | c.5228A>G (p.Glu1743Gly) | ClinVar dbSNP |
14 | g.23415436T>G | CA389036256 | MYH7 | c.5228A>C (p.Glu1743Ala) | |
14 | g.23415436T= | CA2123463214 | MYH7 | c.5228A= (p.Glu1743=) | |
14 | g.23415437C>A | CA389036257 | MYH7 | c.5227G>T (p.Glu1743Ter) | gnomAD v4 |
14 | g.23415437C>G | CA389036258 | MYH7 | c.5227G>C (p.Glu1743Gln) | |
14 | g.23415437C>T | CA389036260 | MYH7 | c.5227G>A (p.Glu1743Lys) | gnomAD v4 |
14 | g.23415438C>A | CA389036262 | MYH7 | c.5226G>T (p.Glu1742Asp) | |
14 | g.23415438C>G | CA389036263 | MYH7 | c.5226G>C (p.Glu1742Asp) | |
14 | g.23415438C>T | CA485766312 | MYH7 | c.5226G>A (p.Glu1742=) | |
14 | g.23415439T>A | CA389036265 | MYH7 | c.5225A>T (p.Glu1742Val) | |
14 | g.23415439T>C | CA389036267 | MYH7 | c.5225A>G (p.Glu1742Gly) | |
14 | g.23415439T>G | CA389036268 | MYH7 | c.5225A>C (p.Glu1742Ala) | |
14 | g.23415440C>A | CA389036269 | MYH7 | c.5224G>T (p.Glu1742Ter) | |
14 | g.23415440C>G | CA389036270 | MYH7 | c.5224G>C (p.Glu1742Gln) | |
14 | g.23415440C>T | CA389036272 | MYH7 | c.5224G>A (p.Glu1742Lys) | |
14 | g.23415441C>A | CA485766314 | MYH7 | c.5223G>T (p.Val1741=) | |
14 | g.23415441C>G | CA485766318 | MYH7 | c.5223G>C (p.Val1741=) | |
14 | g.23415441C>T | CA485766317 | MYH7 | c.5223G>A (p.Val1741=) | |
14 | g.23415442_23415443del | CA913184899 | MYH7 | c.5222_5223del (p.Val1741GlyfsTer11) | |
14 | g.23415442A= | CA2123463227 | MYH7 | c.5222T= (p.Val1741=) | |
14 | g.23415442A>C | CA389036274 | MYH7 | c.5222T>G (p.Val1741Gly) | |
14 | g.23415442A>G | CA045725 | MYH7 | c.5222T>C (p.Val1741Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415442A>T | CA389036275 | MYH7 | c.5222T>A (p.Val1741Glu) | |
14 | g.23415442_23415443delinsAC | CA2123463224 | MYH7 | c.5221_5222delinsGT (p.Val1741=) | |
14 | g.23415443del | CA704283056 | MYH7 | c.5221del (p.Val1741TrpfsTer24) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23415443C>A | CA389036278 | MYH7 | c.5221G>T (p.Val1741Leu) | |
14 | g.23415443C= | CA2123463233 | MYH7 | c.5221G= (p.Val1741=) | |
14 | g.23415443C>G | CA389036279 | MYH7 | c.5221G>C (p.Val1741Leu) | |
14 | g.23415443C>T | CA389036281 | MYH7 | c.5221G>A (p.Val1741Met) | ClinVar dbSNP gnomAD v4 |
14 | g.23415444T>A | CA389036282 | MYH7 | c.5220A>T (p.Glu1740Asp) | |
14 | g.23415444T>C | CA045717 | MYH7 | c.5220A>G (p.Glu1740=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23415444T>G | CA389036283 | MYH7 | c.5220A>C (p.Glu1740Asp) | |
14 | g.23415444T= | CA2123463236 | MYH7 | c.5220A= (p.Glu1740=) | |
14 | g.23415445T>A | CA389036284 | MYH7 | c.5219A>T (p.Glu1740Val) | |
14 | g.23415445T>C | CA389036291 | MYH7 | c.5219A>G (p.Glu1740Gly) | |
14 | g.23415445T>G | CA389036293 | MYH7 | c.5219A>C (p.Glu1740Ala) | |
14 | g.23415446C>A | CA389036295 | MYH7 | c.5218G>T (p.Glu1740Ter) | |
14 | g.23415446C>G | CA389036297 | MYH7 | c.5218G>C (p.Glu1740Gln) | |
14 | g.23415446C>T | CA389036299 | MYH7 | c.5218G>A (p.Glu1740Lys) | COSMIC |
14 | g.23415447A= | CA2123463240 | MYH7 | c.5217T= (p.Thr1739=) | |
14 | g.23415447A>C | CA485766326 | MYH7 | c.5217T>G (p.Thr1739=) | |
14 | g.23415447A>G | CA485766328 | MYH7 | c.5217T>C (p.Thr1739=) | |
14 | g.23415447A>T | CA485766331 | MYH7 | c.5217T>A (p.Thr1739=) | dbSNP |
14 | g.23415448G>A | CA389036301 | MYH7 | c.5216C>T (p.Thr1739Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415448G>C | CA389036305 | MYH7 | c.5216C>G (p.Thr1739Ser) | |
14 | g.23415448G= | CA2123463246 | MYH7 | c.5216C= (p.Thr1739=) | |
14 | g.23415448G>T | CA389036303 | MYH7 | c.5216C>A (p.Thr1739Asn) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23415449T>A | CA389036306 | MYH7 | c.5215A>T (p.Thr1739Ser) | |
14 | g.23415449T>C | CA389036307 | MYH7 | c.5215A>G (p.Thr1739Ala) | |
14 | g.23415449T>G | CA389036308 | MYH7 | c.5215A>C (p.Thr1739Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23415449T= | CA2123463257 | MYH7 | c.5215A= (p.Thr1739=) | |
14 | g.23415450C>A | CA389036310 | MHRT,MYH7 | c.5214G>T (p.Gln1738His) n.1C>A | |
14 | g.23415450C>G | CA389036312 | MHRT,MYH7 | c.5214G>C (p.Gln1738His) n.1C>G | COSMIC |
14 | g.23415450C>T | CA485766339 | MHRT,MYH7 | c.5214G>A (p.Gln1738=) n.1C>T | |
14 | g.23415451T>A | CA389036709 | MHRT,MYH7 | c.5213A>T (p.Gln1738Leu) n.2T>A | |
14 | g.23415451T>C | CA389036708 | MHRT,MYH7 | c.5213A>G (p.Gln1738Arg) n.2T>C | gnomAD v4 |
14 | g.23415451T>G | CA389036707 | MHRT,MYH7 | c.5213A>C (p.Gln1738Pro) n.2T>G | |
14 | g.23415452G>A | CA389036710 | MHRT,MYH7 | c.5212C>T (p.Gln1738Ter) n.3G>A | |
14 | g.23415452G>C | CA389036711 | MHRT,MYH7 | c.5212C>G (p.Gln1738Glu) n.3G>C | |
14 | g.23415452G>T | CA389036712 | MHRT,MYH7 | c.5212C>A (p.Gln1738Lys) n.3G>T | |
14 | g.23415453G>A | CA485765873 | MHRT,MYH7 | c.5211C>T (p.Leu1737=) n.4G>A | dbSNP |
14 | g.23415453G>C | CA485765874 | MHRT,MYH7 | c.5211C>G (p.Leu1737=) n.4G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415453G= | CA2123463264 | MHRT,MYH7 | c.5211C= (p.Leu1737=) n.4G= | |
14 | g.23415453G>T | CA485765875 | MHRT,MYH7 | c.5211C>A (p.Leu1737=) n.4G>T | COSMIC |
14 | g.23415454A>C | CA389036713 | MHRT,MYH7 | c.5210T>G (p.Leu1737Arg) n.5A>C | |
14 | g.23415454A>G | CA389036714 | MHRT,MYH7 | c.5210T>C (p.Leu1737Pro) n.5A>G | |
14 | g.23415454A>T | CA389036715 | MHRT,MYH7 | c.5210T>A (p.Leu1737His) n.5A>T | |
14 | g.23415455G>A | CA389036716 | MHRT,MYH7 | c.5209C>T (p.Leu1737Phe) n.6G>A | |
14 | g.23415455G>C | CA389036718 | MHRT,MYH7 | c.5209C>G (p.Leu1737Val) n.6G>C | COSMIC |
14 | g.23415455G>T | CA389036717 | MHRT,MYH7 | c.5209C>A (p.Leu1737Ile) n.6G>T | |
14 | g.23415456C>A | CA389036719 | MHRT,MYH7 | c.5208G>T (p.Gln1736His) n.7C>A | |
14 | g.23415456C= | CA2123463274 | MHRT,MYH7 | c.5208G= (p.Gln1736=) n.7C= | |
14 | g.23415456C>G | CA10645045 | MHRT,MYH7 | c.5208G>C (p.Gln1736His) n.7C>G | ClinVar dbSNP gnomAD v4 |
14 | g.23415456C>T | CA485765878 | MHRT,MYH7 | c.5208G>A (p.Gln1736=) n.7C>T | ClinVar dbSNP |
14 | g.23415457T>A | CA389036720 | MHRT,MYH7 | c.5207A>T (p.Gln1736Leu) n.8T>A | |
14 | g.23415457T>C | CA389036721 | MHRT,MYH7 | c.5207A>G (p.Gln1736Arg) n.8T>C | gnomAD v4 COSMIC |
14 | g.23415457T>G | CA389036722 | MHRT,MYH7 | c.5207A>C (p.Gln1736Pro) n.8T>G | |
14 | g.23415458G>A | CA015781 | MHRT,MYH7 | c.5206C>T (p.Gln1736Ter) n.9G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23415458G>C | CA389036723 | MHRT,MYH7 | c.5206C>G (p.Gln1736Glu) n.9G>C | |
14 | g.23415458G= | CA2123463289 | MHRT,MYH7 | c.5206C= (p.Gln1736=) n.9G= | |
14 | g.23415458G>T | CA389036724 | MHRT,MYH7 | c.5206C>A (p.Gln1736Lys) n.9G>T | |
14 | g.23415459_23415460del | CA645581321 | MHRT,MYH7 | c.5205_5206del (p.Gln1736AlafsTer4) n.10_11del | COSMIC |
14 | g.23415459G>A | CA485765880 | MHRT,MYH7 | c.5205C>T (p.Ser1735=) n.10G>A | ClinVar dbSNP |
14 | g.23415459G>C | CA485765881 | MHRT,MYH7 | c.5205C>G (p.Ser1735=) n.10G>C | ClinVar gnomAD v4 |
14 | g.23415459G>T | CA485765882 | MHRT,MYH7 | c.5205C>A (p.Ser1735=) n.10G>T | |
14 | g.23415460G>A | CA389036725 | MHRT,MYH7 | c.5204C>T (p.Ser1735Phe) n.11G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23415460G>C | CA389036726 | MHRT,MYH7 | c.5204C>G (p.Ser1735Cys) n.11G>C | |
14 | g.23415460G= | CA2123463297 | MHRT,MYH7 | c.5204C= (p.Ser1735=) n.11G= | |
14 | g.23415460G>T | CA389036727 | MHRT,MYH7 | c.5204C>A (p.Ser1735Tyr) n.11G>T | |
14 | g.23415461A= | CA2123463312 | MHRT,MYH7 | c.5203T= (p.Ser1735=) n.12A= | |
14 | g.23415461A>C | CA389036729 | MHRT,MYH7 | c.5203T>G (p.Ser1735Ala) n.12A>C | |
14 | g.23415461A>G | CA389036728 | MHRT,MYH7 | c.5203T>C (p.Ser1735Pro) n.12A>G | gnomAD v4 |
14 | g.23415461A>T | CA015770 | MHRT,MYH7 | c.5203T>A (p.Ser1735Thr) n.12A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415462C>A | CA485765889 | MHRT,MYH7 | c.5202G>T (p.Leu1734=) n.13C>A | |
14 | g.23415462C= | CA2123463315 | MHRT,MYH7 | c.5202G= (p.Leu1734=) n.13C= | |
14 | g.23415462C>G | CA485765890 | MHRT,MYH7 | c.5202G>C (p.Leu1734=) n.13C>G | ClinVar dbSNP gnomAD v4 |
14 | g.23415462C>T | CA485765892 | MHRT,MYH7 | c.5202G>A (p.Leu1734=) n.13C>T | |
14 | g.23415463A= | CA2123463323 | MHRT,MYH7 | c.5201T= (p.Leu1734=) n.14A= | |
14 | g.23415463A>C | CA045696 | MHRT,MYH7 | c.5201T>G (p.Leu1734Arg) n.14A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23415463A>G | CA389036730 | MHRT,MYH7 | c.5201T>C (p.Leu1734Pro) n.14A>G | |
14 | g.23415463A>T | CA389036731 | MHRT,MYH7 | c.5201T>A (p.Leu1734Gln) n.14A>T | |
14 | g.23415464G>A | CA485765894 | MHRT,MYH7 | c.5200C>T (p.Leu1734=) n.15G>A | |
14 | g.23415464G>C | CA389036732 | MHRT,MYH7 | c.5200C>G (p.Leu1734Val) n.15G>C | |
14 | g.23415464G>T | CA389036733 | MHRT,MYH7 | c.5200C>A (p.Leu1734Met) n.15G>T | |
14 | g.23415465G>A | CA485765898 | MHRT,MYH7 | c.5199C>T (p.Asp1733=) n.16G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415465G>C | CA389036734 | MHRT,MYH7 | c.5199C>G (p.Asp1733Glu) n.16G>C | |
14 | g.23415465G= | CA2123463325 | MHRT,MYH7 | c.5199C= (p.Asp1733=) n.16G= | |
14 | g.23415465G>T | CA389036735 | MHRT,MYH7 | c.5199C>A (p.Asp1733Glu) n.16G>T | |
14 | g.23415466T>A | CA389036736 | MHRT,MYH7 | c.5198A>T (p.Asp1733Val) n.17T>A | |
14 | g.23415466T>C | CA389036737 | MHRT,MYH7 | c.5198A>G (p.Asp1733Gly) n.17T>C | |
14 | g.23415466T>G | CA389036738 | MHRT,MYH7 | c.5198A>C (p.Asp1733Ala) n.17T>G | |
14 | g.23415467C>A | CA389036739 | MHRT,MYH7 | c.5197G>T (p.Asp1733Tyr) n.18C>A | |
14 | g.23415467C>G | CA389036740 | MHRT,MYH7 | c.5197G>C (p.Asp1733His) n.18C>G | |
14 | g.23415467C>T | CA389036741 | MHRT,MYH7 | c.5197G>A (p.Asp1733Asn) n.18C>T | COSMIC |