Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.68925511_68925528del | CA2625405031 | ACTN1 | c.25+30_25+47del (n.25+30_25+47del) n.508+30_508+47del c.220+30_220+47del (n.220+30_220+47del) n.314+30_314+47del c.157+30_157+47del (n.157+30_157+47del) c.151+30_151+47del (n.151+30_151+47del) c.307+30_307+47del (n.307+30_307+47del) | gnomAD v4 |
14 | g.68925520_68925527delinsATAGACAG | CA2144526266 | ACTN1 | c.25+31_25+38delinsCTGTCTAT (n.25+31_25+38delinsCTGTCTAT) n.508+31_508+38delinsCTGTCTAT c.220+31_220+38delinsCTGTCTAT (n.220+31_220+38delinsCTGTCTAT) n.314+31_314+38delinsCTGTCTAT c.157+31_157+38delinsCTGTCTAT (n.157+31_157+38delinsCTGTCTAT) c.151+31_151+38delinsCTGTCTAT (n.151+31_151+38delinsCTGTCTAT) c.307+31_307+38delinsCTGTCTAT (n.307+31_307+38delinsCTGTCTAT) | |
14 | g.68925523_68925529del | CA614792184 | ACTN1 | c.25+31_25+37del (n.25+31_25+37del) n.508+31_508+37del c.220+31_220+37del (n.220+31_220+37del) n.314+31_314+37del c.157+31_157+37del (n.157+31_157+37del) c.151+31_151+37del (n.151+31_151+37del) c.307+31_307+37del (n.307+31_307+37del) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.68925523G>C | CA2625405040 | ACTN1 | c.25+35C>G (n.25+35C>G) n.508+35C>G c.220+35C>G (n.220+35C>G) n.314+35C>G c.157+35C>G (n.157+35C>G) c.151+35C>G (n.151+35C>G) c.307+35C>G (n.307+35C>G) | gnomAD v4 |
14 | g.68925523G>T | CA2575562065 | ACTN1 | c.25+35C>A (n.25+35C>A) n.508+35C>A c.220+35C>A (n.220+35C>A) n.314+35C>A c.157+35C>A (n.157+35C>A) c.151+35C>A (n.151+35C>A) c.307+35C>A (n.307+35C>A) | gnomAD v4 |
14 | g.68925525C>A | CA2625405041 | ACTN1 | c.25+33G>T (n.25+33G>T) n.508+33G>T c.220+33G>T (n.220+33G>T) n.314+33G>T c.157+33G>T (n.157+33G>T) c.151+33G>T (n.151+33G>T) c.307+33G>T (n.307+33G>T) | gnomAD v4 |
14 | g.68925525C= | CA2144526269 | ACTN1 | c.25+33G= (n.25+33G=) n.508+33G= c.220+33G= (n.220+33G=) n.314+33G= c.157+33G= (n.157+33G=) c.151+33G= (n.151+33G=) c.307+33G= (n.307+33G=) | |
14 | g.68925525C>T | CA2144526270 | ACTN1 | c.25+33G>A (n.25+33G>A) n.508+33G>A c.220+33G>A (n.220+33G>A) n.314+33G>A c.157+33G>A (n.157+33G>A) c.151+33G>A (n.151+33G>A) c.307+33G>A (n.307+33G>A) | dbSNP gnomAD v4 |
14 | g.68925527G>C | CA2625405042 | ACTN1 | c.25+31C>G (n.25+31C>G) n.508+31C>G c.220+31C>G (n.220+31C>G) n.314+31C>G c.157+31C>G (n.157+31C>G) c.151+31C>G (n.151+31C>G) c.307+31C>G (n.307+31C>G) | gnomAD v4 |
14 | g.68925527G>T | CA2625405043 | ACTN1 | c.25+31C>A (n.25+31C>A) n.508+31C>A c.220+31C>A (n.220+31C>A) n.314+31C>A c.157+31C>A (n.157+31C>A) c.151+31C>A (n.151+31C>A) c.307+31C>A (n.307+31C>A) | gnomAD v4 |
14 | g.68925528T>A | CA2625405044 | ACTN1 | c.25+30A>T (n.25+30A>T) n.508+30A>T c.220+30A>T (n.220+30A>T) n.314+30A>T c.157+30A>T (n.157+30A>T) c.151+30A>T (n.151+30A>T) c.307+30A>T (n.307+30A>T) | gnomAD v4 |
14 | g.68925528dup | CA2625405045 | ACTN1 | c.25+30dup (n.25+30dup) n.508+30dup c.220+30dup (n.220+30dup) n.314+30dup c.157+30dup (n.157+30dup) c.151+30dup (n.151+30dup) c.307+30dup (n.307+30dup) | gnomAD v4 |
14 | g.68925529A>G | CA2625405046 | ACTN1 | c.25+29T>C (n.25+29T>C) n.508+29T>C c.220+29T>C (n.220+29T>C) n.314+29T>C c.157+29T>C (n.157+29T>C) c.151+29T>C (n.151+29T>C) c.307+29T>C (n.307+29T>C) | gnomAD v4 |
14 | g.68925531C>T | CA2625405047 | ACTN1 | c.25+27G>A (n.25+27G>A) n.508+27G>A c.220+27G>A (n.220+27G>A) n.314+27G>A c.157+27G>A (n.157+27G>A) c.151+27G>A (n.151+27G>A) c.307+27G>A (n.307+27G>A) | gnomAD v4 |
14 | g.68925532T>A | CA2575562066 | ACTN1 | c.25+26A>T (n.25+26A>T) n.508+26A>T c.220+26A>T (n.220+26A>T) n.314+26A>T c.157+26A>T (n.157+26A>T) c.151+26A>T (n.151+26A>T) c.307+26A>T (n.307+26A>T) | |
14 | g.68925532T>C | CA2625405048 | ACTN1 | c.25+26A>G (n.25+26A>G) n.508+26A>G c.220+26A>G (n.220+26A>G) n.314+26A>G c.157+26A>G (n.157+26A>G) c.151+26A>G (n.151+26A>G) c.307+26A>G (n.307+26A>G) | gnomAD v4 |
14 | g.68925533C>A | CA2625405049 | ACTN1 | c.25+25G>T (n.25+25G>T) n.508+25G>T c.220+25G>T (n.220+25G>T) n.314+25G>T c.157+25G>T (n.157+25G>T) c.151+25G>T (n.151+25G>T) c.307+25G>T (n.307+25G>T) | gnomAD v4 |
14 | g.68925533C= | CA2144526271 | ACTN1 | c.25+25G= (n.25+25G=) n.508+25G= c.220+25G= (n.220+25G=) n.314+25G= c.157+25G= (n.157+25G=) c.151+25G= (n.151+25G=) c.307+25G= (n.307+25G=) | |
14 | g.68925533C>T | CA7242781 | ACTN1 | c.25+25G>A (n.25+25G>A) n.508+25G>A c.220+25G>A (n.220+25G>A) n.314+25G>A c.157+25G>A (n.157+25G>A) c.151+25G>A (n.151+25G>A) c.307+25G>A (n.307+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.68925534G>A | CA7242782 | ACTN1 | c.25+24C>T (n.25+24C>T) n.508+24C>T c.220+24C>T (n.220+24C>T) n.314+24C>T c.157+24C>T (n.157+24C>T) c.151+24C>T (n.151+24C>T) c.307+24C>T (n.307+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.68925534G>C | CA2625405050 | ACTN1 | c.25+24C>G (n.25+24C>G) n.508+24C>G c.220+24C>G (n.220+24C>G) n.314+24C>G c.157+24C>G (n.157+24C>G) c.151+24C>G (n.151+24C>G) c.307+24C>G (n.307+24C>G) | gnomAD v4 |
14 | g.68925534G= | CA2144526272 | ACTN1 | c.25+24C= (n.25+24C=) n.508+24C= c.220+24C= (n.220+24C=) n.314+24C= c.157+24C= (n.157+24C=) c.151+24C= (n.151+24C=) c.307+24C= (n.307+24C=) | |
14 | g.68925534G>T | CA2625405051 | ACTN1 | c.25+24C>A (n.25+24C>A) n.508+24C>A c.220+24C>A (n.220+24C>A) n.314+24C>A c.157+24C>A (n.157+24C>A) c.151+24C>A (n.151+24C>A) c.307+24C>A (n.307+24C>A) | gnomAD v4 |
14 | g.68925534_68925535insGTGGTCGCCGTA | CA2625405052 | ACTN1 | c.25+23_25+24insTACGGCGACCAC (n.25+23_25+24insTACGGCGACCAC) n.508+23_508+24insTACGGCGACCAC c.220+23_220+24insTACGGCGACCAC (n.220+23_220+24insTACGGCGACCAC) n.314+23_314+24insTACGGCGACCAC c.157+23_157+24insTACGGCGACCAC (n.157+23_157+24insTACGGCGACCAC) c.151+23_151+24insTACGGCGACCAC (n.151+23_151+24insTACGGCGACCAC) c.307+23_307+24insTACGGCGACCAC (n.307+23_307+24insTACGGCGACCAC) | gnomAD v4 |
14 | g.68925535T>G | CA2575562067 | ACTN1 | c.25+23A>C (n.25+23A>C) n.508+23A>C c.220+23A>C (n.220+23A>C) n.314+23A>C c.157+23A>C (n.157+23A>C) c.151+23A>C (n.151+23A>C) c.307+23A>C (n.307+23A>C) | gnomAD v4 |
14 | g.68925536C>A | CA2625405053 | ACTN1 | c.25+22G>T (n.25+22G>T) n.508+22G>T c.220+22G>T (n.220+22G>T) n.314+22G>T c.157+22G>T (n.157+22G>T) c.151+22G>T (n.151+22G>T) c.307+22G>T (n.307+22G>T) | gnomAD v4 |
14 | g.68925536C= | CA2144526273 | ACTN1 | c.25+22G= (n.25+22G=) n.508+22G= c.220+22G= (n.220+22G=) n.314+22G= c.157+22G= (n.157+22G=) c.151+22G= (n.151+22G=) c.307+22G= (n.307+22G=) | |
14 | g.68925536C>T | CA614792191 | ACTN1 | c.25+22G>A (n.25+22G>A) n.508+22G>A c.220+22G>A (n.220+22G>A) n.314+22G>A c.157+22G>A (n.157+22G>A) c.151+22G>A (n.151+22G>A) c.307+22G>A (n.307+22G>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.68925537C>A | CA2625405054 | ACTN1 | c.25+21G>T (n.25+21G>T) n.508+21G>T c.220+21G>T (n.220+21G>T) n.314+21G>T c.157+21G>T (n.157+21G>T) c.151+21G>T (n.151+21G>T) c.307+21G>T (n.307+21G>T) | gnomAD v4 |
14 | g.68925538_68925539insTAAAAAA | CA2625405055 | ACTN1 | c.25+19_25+20insTTTTTTA (n.25+19_25+20insTTTTTTA) n.508+19_508+20insTTTTTTA c.220+19_220+20insTTTTTTA (n.220+19_220+20insTTTTTTA) n.314+19_314+20insTTTTTTA c.157+19_157+20insTTTTTTA (n.157+19_157+20insTTTTTTA) c.151+19_151+20insTTTTTTA (n.151+19_151+20insTTTTTTA) c.307+19_307+20insTTTTTTA (n.307+19_307+20insTTTTTTA) | gnomAD v4 |
14 | g.68925539G>T | CA2625405056 | ACTN1 | c.25+19C>A (n.25+19C>A) n.508+19C>A c.220+19C>A (n.220+19C>A) n.314+19C>A c.157+19C>A (n.157+19C>A) c.151+19C>A (n.151+19C>A) c.307+19C>A (n.307+19C>A) | gnomAD v4 |
14 | g.68925541del | CA2625405057 | ACTN1 | c.25+19del (n.25+19del) n.508+19del c.220+19del (n.220+19del) n.314+19del c.157+19del (n.157+19del) c.151+19del (n.151+19del) c.307+19del (n.307+19del) | gnomAD v4 |
14 | g.68925540G>C | CA614792193 | ACTN1 | c.25+18C>G (n.25+18C>G) n.508+18C>G c.220+18C>G (n.220+18C>G) n.314+18C>G c.157+18C>G (n.157+18C>G) c.151+18C>G (n.151+18C>G) c.307+18C>G (n.307+18C>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.68925540G= | CA2144526274 | ACTN1 | c.25+18C= (n.25+18C=) n.508+18C= c.220+18C= (n.220+18C=) n.314+18C= c.157+18C= (n.157+18C=) c.151+18C= (n.151+18C=) c.307+18C= (n.307+18C=) | |
14 | g.68925540G>T | CA2625405058 | ACTN1 | c.25+18C>A (n.25+18C>A) n.508+18C>A c.220+18C>A (n.220+18C>A) n.314+18C>A c.157+18C>A (n.157+18C>A) c.151+18C>A (n.151+18C>A) c.307+18C>A (n.307+18C>A) | gnomAD v4 |
14 | g.68925541G>A | CA262874330 | ACTN1 | c.25+17C>T (n.25+17C>T) n.508+17C>T c.220+17C>T (n.220+17C>T) n.314+17C>T c.157+17C>T (n.157+17C>T) c.151+17C>T (n.151+17C>T) c.307+17C>T (n.307+17C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.68925541G= | CA2144526275 | ACTN1 | c.25+17C= (n.25+17C=) n.508+17C= c.220+17C= (n.220+17C=) n.314+17C= c.157+17C= (n.157+17C=) c.151+17C= (n.151+17C=) c.307+17C= (n.307+17C=) | |
14 | g.68925541G>T | CA2625405059 | ACTN1 | c.25+17C>A (n.25+17C>A) n.508+17C>A c.220+17C>A (n.220+17C>A) n.314+17C>A c.157+17C>A (n.157+17C>A) c.151+17C>A (n.151+17C>A) c.307+17C>A (n.307+17C>A) | gnomAD v4 |
14 | g.68925542C>A | CA2625405060 | ACTN1 | c.25+16G>T (n.25+16G>T) n.508+16G>T c.220+16G>T (n.220+16G>T) n.314+16G>T c.157+16G>T (n.157+16G>T) c.151+16G>T (n.151+16G>T) c.307+16G>T (n.307+16G>T) | gnomAD v4 |
14 | g.68925544A>C | CA2625405061 | ACTN1 | c.25+14T>G (n.25+14T>G) n.508+14T>G c.220+14T>G (n.220+14T>G) n.314+14T>G c.157+14T>G (n.157+14T>G) c.151+14T>G (n.151+14T>G) c.307+14T>G (n.307+14T>G) | gnomAD v4 |
14 | g.68925544A>T | CA2625405062 | ACTN1 | c.25+14T>A (n.25+14T>A) n.508+14T>A c.220+14T>A (n.220+14T>A) n.314+14T>A c.157+14T>A (n.157+14T>A) c.151+14T>A (n.151+14T>A) c.307+14T>A (n.307+14T>A) | gnomAD v4 |
14 | g.68925546dup | CA2802007143 | ACTN1 | c.25+13dup (n.25+13dup) n.508+13dup c.220+13dup (n.220+13dup) n.314+13dup c.157+13dup (n.157+13dup) c.151+13dup (n.151+13dup) c.307+13dup (n.307+13dup) | |
14 | g.68925546G>A | CA7242783 | ACTN1 | c.25+12C>T (n.25+12C>T) n.508+12C>T c.220+12C>T (n.220+12C>T) n.314+12C>T c.157+12C>T (n.157+12C>T) c.151+12C>T (n.151+12C>T) c.307+12C>T (n.307+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.68925546G>C | CA2625405063 | ACTN1 | c.25+12C>G (n.25+12C>G) n.508+12C>G c.220+12C>G (n.220+12C>G) n.314+12C>G c.157+12C>G (n.157+12C>G) c.151+12C>G (n.151+12C>G) c.307+12C>G (n.307+12C>G) | gnomAD v4 |
14 | g.68925546G= | CA2144526276 | ACTN1 | c.25+12C= (n.25+12C=) n.508+12C= c.220+12C= (n.220+12C=) n.314+12C= c.157+12C= (n.157+12C=) c.151+12C= (n.151+12C=) c.307+12C= (n.307+12C=) | |
14 | g.68925546G>T | CA2625405064 | ACTN1 | c.25+12C>A (n.25+12C>A) n.508+12C>A c.220+12C>A (n.220+12C>A) n.314+12C>A c.157+12C>A (n.157+12C>A) c.151+12C>A (n.151+12C>A) c.307+12C>A (n.307+12C>A) | gnomAD v4 |
14 | g.68925547T>A | CA2144526278 | ACTN1 | c.25+11A>T (n.25+11A>T) n.508+11A>T c.220+11A>T (n.220+11A>T) n.314+11A>T c.157+11A>T (n.157+11A>T) c.151+11A>T (n.151+11A>T) c.307+11A>T (n.307+11A>T) | dbSNP gnomAD v4 |
14 | g.68925547T>C | CA614792199 | ACTN1 | c.25+11A>G (n.25+11A>G) n.508+11A>G c.220+11A>G (n.220+11A>G) n.314+11A>G c.157+11A>G (n.157+11A>G) c.151+11A>G (n.151+11A>G) c.307+11A>G (n.307+11A>G) | dbSNP gnomAD v2 |
14 | g.68925547T>G | CA7242784 | ACTN1 | c.25+11A>C (n.25+11A>C) n.508+11A>C c.220+11A>C (n.220+11A>C) n.314+11A>C c.157+11A>C (n.157+11A>C) c.151+11A>C (n.151+11A>C) c.307+11A>C (n.307+11A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.68925547T= | CA2144526277 | ACTN1 | c.25+11A= (n.25+11A=) n.508+11A= c.220+11A= (n.220+11A=) n.314+11A= c.157+11A= (n.157+11A=) c.151+11A= (n.151+11A=) c.307+11A= (n.307+11A=) | |
14 | g.68925548del | CA2625405065 | ACTN1 | c.25+11del (n.25+11del) n.508+11del c.220+11del (n.220+11del) n.314+11del c.157+11del (n.157+11del) c.151+11del (n.151+11del) c.307+11del (n.307+11del) | gnomAD v4 |
14 | g.68925547_68925548insCCG | CA2802007144 | ACTN1 | c.25+10_25+11insCGG (n.25+10_25+11insCGG) n.508+10_508+11insCGG c.220+10_220+11insCGG (n.220+10_220+11insCGG) n.314+10_314+11insCGG c.157+10_157+11insCGG (n.157+10_157+11insCGG) c.151+10_151+11insCGG (n.151+10_151+11insCGG) c.307+10_307+11insCGG (n.307+10_307+11insCGG) | |
14 | g.68925548_68925552del | CA964313830 | ACTN1 | c.25+6_25+10del (n.25+6_25+10del) n.508+6_508+10del c.220+6_220+10del (n.220+6_220+10del) n.314+6_314+10del c.157+6_157+10del (n.157+6_157+10del) c.151+6_151+10del (n.151+6_151+10del) c.307+6_307+10del (n.307+6_307+10del) | gnomAD v3 gnomAD v4 |
14 | g.68925551_68925553del | CA2802007145 | ACTN1 | c.25+7_25+9del (n.25+7_25+9del) n.508+7_508+9del c.220+7_220+9del (n.220+7_220+9del) n.314+7_314+9del c.157+7_157+9del (n.157+7_157+9del) c.151+7_151+9del (n.151+7_151+9del) c.307+7_307+9del (n.307+7_307+9del) | |
14 | g.68925550C>A | CA2625405066 | ACTN1 | c.25+8G>T (n.25+8G>T) n.508+8G>T c.220+8G>T (n.220+8G>T) n.314+8G>T c.157+8G>T (n.157+8G>T) c.151+8G>T (n.151+8G>T) c.307+8G>T (n.307+8G>T) | gnomAD v4 |
14 | g.68925550C= | CA2144526279 | ACTN1 | c.25+8G= (n.25+8G=) n.508+8G= c.220+8G= (n.220+8G=) n.314+8G= c.157+8G= (n.157+8G=) c.151+8G= (n.151+8G=) c.307+8G= (n.307+8G=) | |
14 | g.68925550C>G | CA2729544340 | ACTN1 | c.25+8G>C (n.25+8G>C) n.508+8G>C c.220+8G>C (n.220+8G>C) n.314+8G>C c.157+8G>C (n.157+8G>C) c.151+8G>C (n.151+8G>C) c.307+8G>C (n.307+8G>C) | dbSNP |
14 | g.68925550C>T | CA7242785 | ACTN1 | c.25+8G>A (n.25+8G>A) n.508+8G>A c.220+8G>A (n.220+8G>A) n.314+8G>A c.157+8G>A (n.157+8G>A) c.151+8G>A (n.151+8G>A) c.307+8G>A (n.307+8G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.68925551G>A | CA7242786 | ACTN1 | c.25+7C>T (n.25+7C>T) n.508+7C>T c.220+7C>T (n.220+7C>T) n.314+7C>T c.157+7C>T (n.157+7C>T) c.151+7C>T (n.151+7C>T) c.307+7C>T (n.307+7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.68925551G= | CA2144526280 | ACTN1 | c.25+7C= (n.25+7C=) n.508+7C= c.220+7C= (n.220+7C=) n.314+7C= c.157+7C= (n.157+7C=) c.151+7C= (n.151+7C=) c.307+7C= (n.307+7C=) | |
14 | g.68925551G>T | CA2625405068 | ACTN1 | c.25+7C>A (n.25+7C>A) n.508+7C>A c.220+7C>A (n.220+7C>A) n.314+7C>A c.157+7C>A (n.157+7C>A) c.151+7C>A (n.151+7C>A) c.307+7C>A (n.307+7C>A) | gnomAD v4 |
14 | g.68925552_68925560del | CA2625405067 | ACTN1 | c.24_25+7del n.507_508+7del c.219_220+7del n.313_314+7del c.156_157+7del c.150_151+7del c.306_307+7del | gnomAD v4 |
14 | g.68925554_68925555insTAAT | CA2802007146 | ACTN1 | c.25+4_25+5insTTAA (n.25+4_25+5insTTAA) n.508+4_508+5insTTAA c.220+4_220+5insTTAA (n.220+4_220+5insTTAA) n.314+4_314+5insTTAA c.157+4_157+5insTTAA (n.157+4_157+5insTTAA) c.151+4_151+5insTTAA (n.151+4_151+5insTTAA) c.307+4_307+5insTTAA (n.307+4_307+5insTTAA) | |
14 | g.68925555del | CA2739279643 | ACTN1 | c.25+3del (n.25+3del) n.508+3del c.220+3del (n.220+3del) n.314+3del c.157+3del (n.157+3del) c.151+3del (n.151+3del) c.307+3del (n.307+3del) | ClinVar |
14 | g.68925555C= | CA2144526281 | ACTN1 | c.25+3G= (n.25+3G=) n.508+3G= c.220+3G= (n.220+3G=) n.314+3G= c.157+3G= (n.157+3G=) c.151+3G= (n.151+3G=) c.307+3G= (n.307+3G=) | |
14 | g.68925555C>T | CA614792204 | ACTN1 | c.25+3G>A (n.25+3G>A) n.508+3G>A c.220+3G>A (n.220+3G>A) n.314+3G>A c.157+3G>A (n.157+3G>A) c.151+3G>A (n.151+3G>A) c.307+3G>A (n.307+3G>A) | dbSNP gnomAD v2 |
14 | g.68925556A>C | CA390177869 | ACTN1 | c.25+2T>G (n.25+2T>G) n.508+2T>G c.220+2T>G (n.220+2T>G) n.314+2T>G c.157+2T>G (n.157+2T>G) c.151+2T>G (n.151+2T>G) c.307+2T>G (n.307+2T>G) | |
14 | g.68925556A>G | CA390177870 | ACTN1 | c.25+2T>C (n.25+2T>C) n.508+2T>C c.220+2T>C (n.220+2T>C) n.314+2T>C c.157+2T>C (n.157+2T>C) c.151+2T>C (n.151+2T>C) c.307+2T>C (n.307+2T>C) | |
14 | g.68925556A>T | CA390177871 | ACTN1 | c.25+2T>A (n.25+2T>A) n.508+2T>A c.220+2T>A (n.220+2T>A) n.314+2T>A c.157+2T>A (n.157+2T>A) c.151+2T>A (n.151+2T>A) c.307+2T>A (n.307+2T>A) | |
14 | g.68925556_68925557insAA | CA2802007147 | ACTN1 | c.25+2_25+3insTT (n.25+2_25+3insTT) n.508+2_508+3insTT c.220+2_220+3insTT (n.220+2_220+3insTT) n.314+2_314+3insTT c.157+2_157+3insTT (n.157+2_157+3insTT) c.151+2_151+3insTT (n.151+2_151+3insTT) c.307+2_307+3insTT (n.307+2_307+3insTT) | |
14 | g.68925557C>A | CA390177872 | ACTN1 | c.25+1G>T (n.25+1G>T) n.508+1G>T c.220+1G>T (n.220+1G>T) n.314+1G>T c.157+1G>T (n.157+1G>T) c.151+1G>T (n.151+1G>T) c.307+1G>T (n.307+1G>T) | |
14 | g.68925557C>G | CA390177873 | ACTN1 | c.25+1G>C (n.25+1G>C) n.508+1G>C c.220+1G>C (n.220+1G>C) n.314+1G>C c.157+1G>C (n.157+1G>C) c.151+1G>C (n.151+1G>C) c.307+1G>C (n.307+1G>C) | |
14 | g.68925557C>T | CA390177874 | ACTN1 | c.25+1G>A (n.25+1G>A) n.508+1G>A c.220+1G>A (n.220+1G>A) n.314+1G>A c.157+1G>A (n.157+1G>A) c.151+1G>A (n.151+1G>A) c.307+1G>A (n.307+1G>A) | |
14 | g.68925558C>A | CA390177876 | ACTN1 | c.25G>T (p.Gly9Cys) n.508G>T c.220G>T (p.Gly74Cys) n.314G>T c.220G>T (p.Glu74Ter) c.157G>T (p.Gly53Cys) c.151G>T (p.Gly51Cys) c.307G>T (p.Gly103Cys) | gnomAD v4 |
14 | g.68925558C>G | CA390177877 | ACTN1 | c.25G>C (p.Gly9Arg) n.508G>C c.220G>C (p.Gly74Arg) n.314G>C c.220G>C (p.Glu74Gln) c.157G>C (p.Gly53Arg) c.151G>C (p.Gly51Arg) c.307G>C (p.Gly103Arg) | |
14 | g.68925558C>T | CA390177875 | ACTN1 | c.25G>A (p.Gly9Ser) n.508G>A c.220G>A (p.Gly74Ser) n.314G>A c.220G>A (p.Glu74Lys) c.157G>A (p.Gly53Ser) c.151G>A (p.Gly51Ser) c.307G>A (p.Gly103Ser) | |
14 | g.68925559T>A | CA486985085 | ACTN1 | c.24A>T (p.Ser8=) n.507A>T c.219A>T (p.Ser73=) n.313A>T c.216A>T (p.Ser72=) c.156A>T (p.Ser52=) c.150A>T (p.Ser50=) c.306A>T (p.Ser102=) | |
14 | g.68925559T>C | CA486985087 | ACTN1 | c.24A>G (p.Ser8=) n.507A>G c.219A>G (p.Ser73=) n.313A>G c.216A>G (p.Ser72=) c.156A>G (p.Ser52=) c.150A>G (p.Ser50=) c.306A>G (p.Ser102=) | gnomAD v4 |
14 | g.68925559T>G | CA486985090 | ACTN1 | c.24A>C (p.Ser8=) n.507A>C c.219A>C (p.Ser73=) n.313A>C c.216A>C (p.Ser72=) c.156A>C (p.Ser52=) c.150A>C (p.Ser50=) c.306A>C (p.Ser102=) | |
14 | g.68925560G>A | CA390177878 | ACTN1 | c.23C>T (p.Ser8Leu) n.506C>T c.218C>T (p.Ser73Leu) n.312C>T c.215C>T (p.Ser72Leu) c.155C>T (p.Ser52Leu) c.149C>T (p.Ser50Leu) c.305C>T (p.Ser102Leu) | gnomAD v4 |
14 | g.68925560G>C | CA390177879 | ACTN1 | c.23C>G (p.Ser8Ter) n.506C>G c.218C>G (p.Ser73Ter) n.312C>G c.215C>G (p.Ser72Ter) c.155C>G (p.Ser52Ter) c.149C>G (p.Ser50Ter) c.305C>G (p.Ser102Ter) | |
14 | g.68925560G>T | CA390177880 | ACTN1 | c.23C>A (p.Ser8Ter) n.506C>A c.218C>A (p.Ser73Ter) n.312C>A c.215C>A (p.Ser72Ter) c.155C>A (p.Ser52Ter) c.149C>A (p.Ser50Ter) c.305C>A (p.Ser102Ter) | |
14 | g.68925561A>C | CA390177881 | ACTN1 | c.22T>G (p.Ser8Ala) n.505T>G c.217T>G (p.Ser73Ala) n.311T>G c.214T>G (p.Ser72Ala) c.154T>G (p.Ser52Ala) c.148T>G (p.Ser50Ala) c.304T>G (p.Ser102Ala) | |
14 | g.68925561A>G | CA390177882 | ACTN1 | c.22T>C (p.Ser8Pro) n.505T>C c.217T>C (p.Ser73Pro) n.311T>C c.214T>C (p.Ser72Pro) c.154T>C (p.Ser52Pro) c.148T>C (p.Ser50Pro) c.304T>C (p.Ser102Pro) | gnomAD v4 |
14 | g.68925561A>T | CA390177883 | ACTN1 | c.22T>A (p.Ser8Thr) n.505T>A c.217T>A (p.Ser73Thr) n.311T>A c.214T>A (p.Ser72Thr) c.154T>A (p.Ser52Thr) c.148T>A (p.Ser50Thr) c.304T>A (p.Ser102Thr) | |
14 | g.68925562G>A | CA486985100 | ACTN1 | c.21C>T (p.Ile7=) n.504C>T c.216C>T (p.Ile72=) n.310C>T c.213C>T (p.Ile71=) c.153C>T (p.Ile51=) c.147C>T (p.Ile49=) c.303C>T (p.Ile101=) | |
14 | g.68925562G>C | CA390177884 | ACTN1 | c.21C>G (p.Ile7Met) n.504C>G c.216C>G (p.Ile72Met) n.310C>G c.213C>G (p.Ile71Met) c.153C>G (p.Ile51Met) c.147C>G (p.Ile49Met) c.303C>G (p.Ile101Met) | |
14 | g.68925562G>T | CA486985104 | ACTN1 | c.21C>A (p.Ile7=) n.504C>A c.216C>A (p.Ile72=) n.310C>A c.213C>A (p.Ile71=) c.153C>A (p.Ile51=) c.147C>A (p.Ile49=) c.303C>A (p.Ile101=) | |
14 | g.68925563A>C | CA390177885 | ACTN1 | c.20T>G (p.Ile7Ser) n.503T>G c.215T>G (p.Ile72Ser) n.309T>G c.212T>G (p.Ile71Ser) c.152T>G (p.Ile51Ser) c.146T>G (p.Ile49Ser) c.302T>G (p.Ile101Ser) | |
14 | g.68925563A>G | CA390177886 | ACTN1 | c.20T>C (p.Ile7Thr) n.503T>C c.215T>C (p.Ile72Thr) n.309T>C c.212T>C (p.Ile71Thr) c.152T>C (p.Ile51Thr) c.146T>C (p.Ile49Thr) c.302T>C (p.Ile101Thr) | |
14 | g.68925563A>T | CA390177887 | ACTN1 | c.20T>A (p.Ile7Asn) n.503T>A c.215T>A (p.Ile72Asn) n.309T>A c.212T>A (p.Ile71Asn) c.152T>A (p.Ile51Asn) c.146T>A (p.Ile49Asn) c.302T>A (p.Ile101Asn) | |
14 | g.68925564T>A | CA390177888 | ACTN1 | c.19A>T (p.Ile7Phe) n.502A>T c.214A>T (p.Ile72Phe) n.308A>T c.211A>T (p.Ile71Phe) c.151A>T (p.Ile51Phe) c.145A>T (p.Ile49Phe) c.301A>T (p.Ile101Phe) | |
14 | g.68925564T>C | CA390177889 | ACTN1 | c.19A>G (p.Ile7Val) n.502A>G c.214A>G (p.Ile72Val) n.308A>G c.211A>G (p.Ile71Val) c.151A>G (p.Ile51Val) c.145A>G (p.Ile49Val) c.301A>G (p.Ile101Val) | |
14 | g.68925564T>G | CA390177890 | ACTN1 | c.19A>C (p.Ile7Leu) n.502A>C c.214A>C (p.Ile72Leu) n.308A>C c.211A>C (p.Ile71Leu) c.151A>C (p.Ile51Leu) c.145A>C (p.Ile49Leu) c.301A>C (p.Ile101Leu) | gnomAD v4 |
14 | g.68925565G>A | CA486985113 | ACTN1 | c.18C>T (p.Val6=) n.501C>T c.213C>T (p.Val71=) n.307C>T c.210C>T (p.Val70=) c.150C>T (p.Val50=) c.144C>T (p.Val48=) c.300C>T (p.Val100=) | |
14 | g.68925565G>C | CA486985115 | ACTN1 | c.18C>G (p.Val6=) n.501C>G c.213C>G (p.Val71=) n.307C>G c.210C>G (p.Val70=) c.150C>G (p.Val50=) c.144C>G (p.Val48=) c.300C>G (p.Val100=) | |
14 | g.68925565G>T | CA486985116 | ACTN1 | c.18C>A (p.Val6=) n.501C>A c.213C>A (p.Val71=) n.307C>A c.210C>A (p.Val70=) c.150C>A (p.Val50=) c.144C>A (p.Val48=) c.300C>A (p.Val100=) | |
14 | g.68925566A>C | CA390177891 | ACTN1 | c.17T>G (p.Val6Gly) n.500T>G c.212T>G (p.Val71Gly) n.306T>G c.209T>G (p.Val70Gly) c.149T>G (p.Val50Gly) c.143T>G (p.Val48Gly) c.299T>G (p.Val100Gly) | |
14 | g.68925566A>G | CA390177893 | ACTN1 | c.17T>C (p.Val6Ala) n.500T>C c.212T>C (p.Val71Ala) n.306T>C c.209T>C (p.Val70Ala) c.149T>C (p.Val50Ala) c.143T>C (p.Val48Ala) c.299T>C (p.Val100Ala) | |
14 | g.68925566A>T | CA390177892 | ACTN1 | c.17T>A (p.Val6Asp) n.500T>A c.212T>A (p.Val71Asp) n.306T>A c.209T>A (p.Val70Asp) c.149T>A (p.Val50Asp) c.143T>A (p.Val48Asp) c.299T>A (p.Val100Asp) | |
14 | g.68925567C>A | CA390177894 | ACTN1 | c.16G>T (p.Val6Phe) n.499G>T c.211G>T (p.Val71Phe) n.305G>T c.208G>T (p.Val70Phe) c.148G>T (p.Val50Phe) c.142G>T (p.Val48Phe) c.298G>T (p.Val100Phe) | gnomAD v4 |
14 | g.68925567C>G | CA390177896 | ACTN1 | c.16G>C (p.Val6Leu) n.499G>C c.211G>C (p.Val71Leu) n.305G>C c.208G>C (p.Val70Leu) c.148G>C (p.Val50Leu) c.142G>C (p.Val48Leu) c.298G>C (p.Val100Leu) | |
14 | g.68925567C>T | CA390177895 | ACTN1 | c.16G>A (p.Val6Ile) n.499G>A c.211G>A (p.Val71Ile) n.305G>A c.208G>A (p.Val70Ile) c.148G>A (p.Val50Ile) c.142G>A (p.Val48Ile) c.298G>A (p.Val100Ile) | |
14 | g.68925567_68925568del | CA2802007148 | ACTN1 | c.15_16del (p.Glu5AspfsTer5) n.498_499del c.210_211del (p.Glu70AspfsTer5) n.304_305del c.210_211del (p.Glu70AspfsTer?) c.207_208del (p.Glu69AspfsTer?) c.147_148del (p.Glu49AspfsTer5) c.141_142del (p.Glu47AspfsTer5) c.297_298del (p.Glu99AspfsTer5) | |
14 | g.68925568C>A | CA390177897 | ACTN1 | c.15G>T (p.Glu5Asp) n.498G>T c.210G>T (p.Glu70Asp) n.304G>T c.207G>T (p.Glu69Asp) c.147G>T (p.Glu49Asp) c.141G>T (p.Glu47Asp) c.297G>T (p.Glu99Asp) | gnomAD v4 |
14 | g.68925568C>G | CA390177898 | ACTN1 | c.15G>C (p.Glu5Asp) n.498G>C c.210G>C (p.Glu70Asp) n.304G>C c.207G>C (p.Glu69Asp) c.147G>C (p.Glu49Asp) c.141G>C (p.Glu47Asp) c.297G>C (p.Glu99Asp) | |
14 | g.68925568C>T | CA486985127 | ACTN1 | c.15G>A (p.Glu5=) n.498G>A c.210G>A (p.Glu70=) n.304G>A c.207G>A (p.Glu69=) c.147G>A (p.Glu49=) c.141G>A (p.Glu47=) c.297G>A (p.Glu99=) | |
14 | g.68925569T>A | CA390177899 | ACTN1 | c.14A>T (p.Glu5Val) n.497A>T c.209A>T (p.Glu70Val) n.303A>T c.206A>T (p.Glu69Val) c.146A>T (p.Glu49Val) c.140A>T (p.Glu47Val) c.296A>T (p.Glu99Val) | |
14 | g.68925569T>C | CA390177901 | ACTN1 | c.14A>G (p.Glu5Gly) n.497A>G c.209A>G (p.Glu70Gly) n.303A>G c.206A>G (p.Glu69Gly) c.146A>G (p.Glu49Gly) c.140A>G (p.Glu47Gly) c.296A>G (p.Glu99Gly) | |
14 | g.68925569T>G | CA390177900 | ACTN1 | c.14A>C (p.Glu5Ala) n.497A>C c.209A>C (p.Glu70Ala) n.303A>C c.206A>C (p.Glu69Ala) c.146A>C (p.Glu49Ala) c.140A>C (p.Glu47Ala) c.296A>C (p.Glu99Ala) | |
14 | g.68925570C>A | CA390177902 | ACTN1 | c.13G>T (p.Glu5Ter) n.496G>T c.208G>T (p.Glu70Ter) n.302G>T c.205G>T (p.Glu69Ter) c.145G>T (p.Glu49Ter) c.139G>T (p.Glu47Ter) c.295G>T (p.Glu99Ter) | |
14 | g.68925570C>G | CA390177903 | ACTN1 | c.13G>C (p.Glu5Gln) n.496G>C c.208G>C (p.Glu70Gln) n.302G>C c.205G>C (p.Glu69Gln) c.145G>C (p.Glu49Gln) c.139G>C (p.Glu47Gln) c.295G>C (p.Glu99Gln) | |
14 | g.68925570C>T | CA390177904 | ACTN1 | c.13G>A (p.Glu5Lys) n.496G>A c.208G>A (p.Glu70Lys) n.302G>A c.205G>A (p.Glu69Lys) c.145G>A (p.Glu49Lys) c.139G>A (p.Glu47Lys) c.295G>A (p.Glu99Lys) | |
14 | g.68925571del | CA2802007149 | ACTN1 | c.13del (p.Glu5ArgfsTer16) n.496del c.208del (p.Glu70ArgfsTer16) n.302del c.208del (p.Glu70ArgfsTer11) c.205del (p.Glu69ArgfsTer?) c.145del (p.Glu49ArgfsTer16) c.139del (p.Glu47ArgfsTer16) c.295del (p.Glu99ArgfsTer16) | |
14 | g.68925571C>A | CA486985138 | ACTN1 | c.12G>T (p.Leu4=) n.495G>T c.207G>T (p.Leu69=) n.301G>T c.204G>T (p.Leu68=) c.144G>T (p.Leu48=) c.138G>T (p.Leu46=) c.294G>T (p.Leu98=) | dbSNP gnomAD v4 COSMIC COSMIC |
14 | g.68925571C= | CA2144526282 | ACTN1 | c.12G= (p.Leu4=) n.495G= c.207G= (p.Leu69=) n.301G= c.204G= (p.Leu68=) c.144G= (p.Leu48=) c.138G= (p.Leu46=) c.294G= (p.Leu98=) | |
14 | g.68925571C>G | CA486985140 | ACTN1 | c.12G>C (p.Leu4=) n.495G>C c.207G>C (p.Leu69=) n.301G>C c.204G>C (p.Leu68=) c.144G>C (p.Leu48=) c.138G>C (p.Leu46=) c.294G>C (p.Leu98=) | |
14 | g.68925571C>T | CA486985136 | ACTN1 | c.12G>A (p.Leu4=) n.495G>A c.207G>A (p.Leu69=) n.301G>A c.204G>A (p.Leu68=) c.144G>A (p.Leu48=) c.138G>A (p.Leu46=) c.294G>A (p.Leu98=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.68925579_68925581del | CA2625405069 | ACTN1 | c.10_12del (p.Leu4del) n.493_495del c.205_207del (p.Leu69del) n.299_301del c.202_204del (p.Leu68del) c.142_144del (p.Leu48del) c.136_138del (p.Leu46del) c.292_294del (p.Leu98del) | gnomAD v4 |
14 | g.68925572A>C | CA390177905 | ACTN1 | c.11T>G (p.Leu4Arg) n.494T>G c.206T>G (p.Leu69Arg) n.300T>G c.203T>G (p.Leu68Arg) c.143T>G (p.Leu48Arg) c.137T>G (p.Leu46Arg) c.293T>G (p.Leu98Arg) | |
14 | g.68925572A>G | CA390177906 | ACTN1 | c.11T>C (p.Leu4Pro) n.494T>C c.206T>C (p.Leu69Pro) n.300T>C c.203T>C (p.Leu68Pro) c.143T>C (p.Leu48Pro) c.137T>C (p.Leu46Pro) c.293T>C (p.Leu98Pro) | |
14 | g.68925572A>T | CA390177907 | ACTN1 | c.11T>A (p.Leu4Gln) n.494T>A c.206T>A (p.Leu69Gln) n.300T>A c.203T>A (p.Leu68Gln) c.143T>A (p.Leu48Gln) c.137T>A (p.Leu46Gln) c.293T>A (p.Leu98Gln) | |
14 | g.68925573G>A | CA7242787 | ACTN1 | c.10C>T (p.Leu4=) n.493C>T c.205C>T (p.Leu69=) n.299C>T c.202C>T (p.Leu68=) c.142C>T (p.Leu48=) c.136C>T (p.Leu46=) c.292C>T (p.Leu98=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.68925573G>C | CA390177908 | ACTN1 | c.10C>G (p.Leu4Val) n.493C>G c.205C>G (p.Leu69Val) n.299C>G c.202C>G (p.Leu68Val) c.142C>G (p.Leu48Val) c.136C>G (p.Leu46Val) c.292C>G (p.Leu98Val) | |
14 | g.68925573G= | CA2144526283 | ACTN1 | c.10C= (p.Leu4=) n.493C= c.205C= (p.Leu69=) n.299C= c.202C= (p.Leu68=) c.142C= (p.Leu48=) c.136C= (p.Leu46=) c.292C= (p.Leu98=) | |
14 | g.68925573G>T | CA390177909 | ACTN1 | c.10C>A (p.Leu4Met) n.493C>A c.205C>A (p.Leu69Met) n.299C>A c.202C>A (p.Leu68Met) c.142C>A (p.Leu48Met) c.136C>A (p.Leu46Met) c.292C>A (p.Leu98Met) | |
14 | g.68925574C>A | CA486985153 | ACTN1 | c.9G>T (p.Leu3=) n.492G>T c.204G>T (p.Leu68=) n.298G>T c.201G>T (p.Leu67=) c.141G>T (p.Leu47=) c.135G>T (p.Leu45=) c.291G>T (p.Leu97=) | |
14 | g.68925574C= | CA2144526284 | ACTN1 | c.9G= (p.Leu3=) n.492G= c.204G= (p.Leu68=) n.298G= c.201G= (p.Leu67=) c.141G= (p.Leu47=) c.135G= (p.Leu45=) c.291G= (p.Leu97=) | |
14 | g.68925574C>G | CA486985150 | ACTN1 | c.9G>C (p.Leu3=) n.492G>C c.204G>C (p.Leu68=) n.298G>C c.201G>C (p.Leu67=) c.141G>C (p.Leu47=) c.135G>C (p.Leu45=) c.291G>C (p.Leu97=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.68925574C>T | CA486985152 | ACTN1 | c.9G>A (p.Leu3=) n.492G>A c.204G>A (p.Leu68=) n.298G>A c.201G>A (p.Leu67=) c.141G>A (p.Leu47=) c.135G>A (p.Leu45=) c.291G>A (p.Leu97=) | dbSNP |
14 | g.68925575A= | CA2144526285 | ACTN1 | c.8T= (p.Leu3=) n.491T= c.203T= (p.Leu68=) n.297T= c.200T= (p.Leu67=) c.140T= (p.Leu47=) c.134T= (p.Leu45=) c.290T= (p.Leu97=) | |
14 | g.68925575A>C | CA390177910 | ACTN1 | c.8T>G (p.Leu3Arg) n.491T>G c.203T>G (p.Leu68Arg) n.297T>G c.200T>G (p.Leu67Arg) c.140T>G (p.Leu47Arg) c.134T>G (p.Leu45Arg) c.290T>G (p.Leu97Arg) | |
14 | g.68925575A>G | CA7242788 | ACTN1 | c.8T>C (p.Leu3Pro) n.491T>C c.203T>C (p.Leu68Pro) n.297T>C c.200T>C (p.Leu67Pro) c.140T>C (p.Leu47Pro) c.134T>C (p.Leu45Pro) c.290T>C (p.Leu97Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.68925575A>T | CA390177911 | ACTN1 | c.8T>A (p.Leu3Gln) n.491T>A c.203T>A (p.Leu68Gln) n.297T>A c.200T>A (p.Leu67Gln) c.140T>A (p.Leu47Gln) c.134T>A (p.Leu45Gln) c.290T>A (p.Leu97Gln) | |
14 | g.68925576G>A | CA486985160 | ACTN1 | c.7C>T (p.Leu3=) n.490C>T c.202C>T (p.Leu68=) n.296C>T c.199C>T (p.Leu67=) c.139C>T (p.Leu47=) c.133C>T (p.Leu45=) c.289C>T (p.Leu97=) | |
14 | g.68925576G>C | CA390177913 | ACTN1 | c.7C>G (p.Leu3Val) n.490C>G c.202C>G (p.Leu68Val) n.296C>G c.199C>G (p.Leu67Val) c.139C>G (p.Leu47Val) c.133C>G (p.Leu45Val) c.289C>G (p.Leu97Val) | |
14 | g.68925576G= | CA2144526286 | ACTN1 | c.7C= (p.Leu3=) n.490C= c.202C= (p.Leu68=) n.296C= c.199C= (p.Leu67=) c.139C= (p.Leu47=) c.133C= (p.Leu45=) c.289C= (p.Leu97=) | |
14 | g.68925576G>T | CA390177912 | ACTN1 | c.7C>A (p.Leu3Met) n.490C>A c.202C>A (p.Leu68Met) n.296C>A c.199C>A (p.Leu67Met) c.139C>A (p.Leu47Met) c.133C>A (p.Leu45Met) c.289C>A (p.Leu97Met) | dbSNP |
14 | g.68925577C>A | CA486985163 | ACTN1 | c.6G>T (p.Leu2=) n.489G>T c.201G>T (p.Leu67=) n.295G>T c.198G>T (p.Leu66=) c.138G>T (p.Leu46=) c.132G>T (p.Leu44=) c.288G>T (p.Leu96=) | |
14 | g.68925577C>G | CA486985167 | ACTN1 | c.6G>C (p.Leu2=) n.489G>C c.201G>C (p.Leu67=) n.295G>C c.198G>C (p.Leu66=) c.138G>C (p.Leu46=) c.132G>C (p.Leu44=) c.288G>C (p.Leu96=) | |
14 | g.68925577C>T | CA486985165 | ACTN1 | c.6G>A (p.Leu2=) n.489G>A c.201G>A (p.Leu67=) n.295G>A c.198G>A (p.Leu66=) c.138G>A (p.Leu46=) c.132G>A (p.Leu44=) c.288G>A (p.Leu96=) | |
14 | g.68925578A>C | CA390177914 | ACTN1 | c.5T>G (p.Leu2Arg) n.488T>G c.200T>G (p.Leu67Arg) n.294T>G c.197T>G (p.Leu66Arg) c.137T>G (p.Leu46Arg) c.131T>G (p.Leu44Arg) c.287T>G (p.Leu96Arg) | |
14 | g.68925578A>G | CA390177915 | ACTN1 | c.5T>C (p.Leu2Pro) n.488T>C c.200T>C (p.Leu67Pro) n.294T>C c.197T>C (p.Leu66Pro) c.137T>C (p.Leu46Pro) c.131T>C (p.Leu44Pro) c.287T>C (p.Leu96Pro) | |
14 | g.68925578A>T | CA390177916 | ACTN1 | c.5T>A (p.Leu2Gln) n.488T>A c.200T>A (p.Leu67Gln) n.294T>A c.197T>A (p.Leu66Gln) c.137T>A (p.Leu46Gln) c.131T>A (p.Leu44Gln) c.287T>A (p.Leu96Gln) | |
14 | g.68925579G>A | CA486985172 | ACTN1 | c.4C>T (p.Leu2=) n.487C>T c.199C>T (p.Leu67=) n.293C>T c.196C>T (p.Leu66=) c.136C>T (p.Leu46=) c.130C>T (p.Leu44=) c.286C>T (p.Leu96=) | |
14 | g.68925579G>C | CA390177917 | ACTN1 | c.4C>G (p.Leu2Val) n.487C>G c.199C>G (p.Leu67Val) n.293C>G c.196C>G (p.Leu66Val) c.136C>G (p.Leu46Val) c.130C>G (p.Leu44Val) c.286C>G (p.Leu96Val) | dbSNP |
14 | g.68925579G= | CA2144526287 | ACTN1 | c.4C= (p.Leu2=) n.487C= c.199C= (p.Leu67=) n.293C= c.196C= (p.Leu66=) c.136C= (p.Leu46=) c.130C= (p.Leu44=) c.286C= (p.Leu96=) | |
14 | g.68925579G>T | CA390177918 | ACTN1 | c.4C>A (p.Leu2Met) n.487C>A c.199C>A (p.Leu67Met) n.293C>A c.196C>A (p.Leu66Met) c.136C>A (p.Leu46Met) c.130C>A (p.Leu44Met) c.286C>A (p.Leu96Met) | |
14 | g.68925580C>A | CA390177919 | ACTN1 | c.3G>T (p.Met1Ile) n.486G>T c.198G>T (p.Met66Ile) n.292G>T c.195G>T (p.Met65Ile) c.135G>T (p.Met45Ile) c.129G>T (p.Met43Ile) c.285G>T (p.Met95Ile) | |
14 | g.68925580C>G | CA390177920 | ACTN1 | c.3G>C (p.Met1Ile) n.486G>C c.198G>C (p.Met66Ile) n.292G>C c.195G>C (p.Met65Ile) c.135G>C (p.Met45Ile) c.129G>C (p.Met43Ile) c.285G>C (p.Met95Ile) | |
14 | g.68925580C>T | CA390177921 | ACTN1 | c.3G>A (p.Met1Ile) n.486G>A c.198G>A (p.Met66Ile) n.292G>A c.195G>A (p.Met65Ile) c.135G>A (p.Met45Ile) c.129G>A (p.Met43Ile) c.285G>A (p.Met95Ile) | |
14 | g.68925581A>C | CA390177922 | ACTN1 | c.2T>G (p.Met1Arg) n.485T>G c.197T>G (p.Met66Arg) n.291T>G c.194T>G (p.Met65Arg) c.134T>G (p.Met45Arg) c.128T>G (p.Met43Arg) c.284T>G (p.Met95Arg) | |
14 | g.68925581A>G | CA390177923 | ACTN1 | c.2T>C (p.Met1Thr) n.485T>C c.197T>C (p.Met66Thr) n.291T>C c.194T>C (p.Met65Thr) c.134T>C (p.Met45Thr) c.128T>C (p.Met43Thr) c.284T>C (p.Met95Thr) | |
14 | g.68925581A>T | CA390177924 | ACTN1 | c.2T>A (p.Met1Lys) n.485T>A c.197T>A (p.Met66Lys) n.291T>A c.194T>A (p.Met65Lys) c.134T>A (p.Met45Lys) c.128T>A (p.Met43Lys) c.284T>A (p.Met95Lys) | |
14 | g.68925582T>A | CA390177927 | ACTN1 | c.1A>T (p.Met1Leu) n.484A>T c.196A>T (p.Met66Leu) n.290A>T c.193A>T (p.Met65Leu) c.133A>T (p.Met45Leu) c.127A>T (p.Met43Leu) c.283A>T (p.Met95Leu) | |
14 | g.68925582T>C | CA390177926 | ACTN1 | c.1A>G (p.Met1Val) n.484A>G c.196A>G (p.Met66Val) n.290A>G c.193A>G (p.Met65Val) c.133A>G (p.Met45Val) c.127A>G (p.Met43Val) c.283A>G (p.Met95Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.68925582T>G | CA390177925 | ACTN1 | c.1A>C (p.Met1Leu) n.484A>C c.196A>C (p.Met66Leu) n.290A>C c.193A>C (p.Met65Leu) c.133A>C (p.Met45Leu) c.127A>C (p.Met43Leu) c.283A>C (p.Met95Leu) | gnomAD v4 |
14 | g.68925582T= | CA2144526288 | ACTN1 | c.1A= (p.Met1=) n.484A= c.196A= (p.Met66=) n.290A= c.193A= (p.Met65=) c.133A= (p.Met45=) c.127A= (p.Met43=) c.283A= (p.Met95=) | |
14 | g.68925583G>A | CA486985183 | ACTN1 | c.-1C>T (n.-1C>T) n.483C>T c.195C>T (p.Leu65=) n.289C>T c.192C>T (p.Leu64=) c.132C>T (p.Leu44=) c.126C>T (p.Leu42=) c.282C>T (p.Leu94=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.68925583G>C | CA486985184 | ACTN1 | c.-1C>G (n.-1C>G) n.483C>G c.195C>G (p.Leu65=) n.289C>G c.192C>G (p.Leu64=) c.132C>G (p.Leu44=) c.126C>G (p.Leu42=) c.282C>G (p.Leu94=) | |
14 | g.68925583G= | CA2144526289 | ACTN1 | c.-1C= (n.-1C=) n.483C= c.195C= (p.Leu65=) n.289C= c.192C= (p.Leu64=) c.132C= (p.Leu44=) c.126C= (p.Leu42=) c.282C= (p.Leu94=) | |
14 | g.68925583G>T | CA486985185 | ACTN1 | c.-1C>A (n.-1C>A) n.483C>A c.195C>A (p.Leu65=) n.289C>A c.192C>A (p.Leu64=) c.132C>A (p.Leu44=) c.126C>A (p.Leu42=) c.282C>A (p.Leu94=) | |
14 | g.68925584A>C | CA390177928 | ACTN1 | c.-2T>G (n.-2T>G) n.482T>G c.194T>G (p.Leu65Arg) n.288T>G c.191T>G (p.Leu64Arg) c.131T>G (p.Leu44Arg) c.125T>G (p.Leu42Arg) c.281T>G (p.Leu94Arg) | |
14 | g.68925584A>G | CA390177929 | ACTN1 | c.-2T>C (n.-2T>C) n.482T>C c.194T>C (p.Leu65Pro) n.288T>C c.191T>C (p.Leu64Pro) c.131T>C (p.Leu44Pro) c.125T>C (p.Leu42Pro) c.281T>C (p.Leu94Pro) | |
14 | g.68925584A>T | CA390177930 | ACTN1 | c.-2T>A (n.-2T>A) n.482T>A c.194T>A (p.Leu65His) n.288T>A c.191T>A (p.Leu64His) c.131T>A (p.Leu44His) c.125T>A (p.Leu42His) c.281T>A (p.Leu94His) | |
14 | g.68925585G>A | CA390177931 | ACTN1 | c.-3C>T (n.-3C>T) n.481C>T c.193C>T (p.Leu65Phe) n.287C>T c.190C>T (p.Leu64Phe) c.130C>T (p.Leu44Phe) c.124C>T (p.Leu42Phe) c.280C>T (p.Leu94Phe) | |
14 | g.68925585G>C | CA390177932 | ACTN1 | c.-3C>G (n.-3C>G) n.481C>G c.193C>G (p.Leu65Val) n.287C>G c.190C>G (p.Leu64Val) c.130C>G (p.Leu44Val) c.124C>G (p.Leu42Val) c.280C>G (p.Leu94Val) | |
14 | g.68925585G>T | CA390177933 | ACTN1 | c.-3C>A (n.-3C>A) n.481C>A c.193C>A (p.Leu65Ile) n.287C>A c.190C>A (p.Leu64Ile) c.130C>A (p.Leu44Ile) c.124C>A (p.Leu42Ile) c.280C>A (p.Leu94Ile) | |
14 | g.68925586C>A | CA390177935 | ACTN1 | c.-4G>T (n.-4G>T) n.480G>T c.192G>T (p.Lys64Asn) n.286G>T c.189G>T (p.Lys63Asn) c.129G>T (p.Lys43Asn) c.123G>T (p.Lys41Asn) c.279G>T (p.Lys93Asn) | COSMIC COSMIC |
14 | g.68925586C>G | CA390177934 | ACTN1 | c.-4G>C (n.-4G>C) n.480G>C c.192G>C (p.Lys64Asn) n.286G>C c.189G>C (p.Lys63Asn) c.129G>C (p.Lys43Asn) c.123G>C (p.Lys41Asn) c.279G>C (p.Lys93Asn) | |
14 | g.68925586C>T | CA486985188 | ACTN1 | c.-4G>A (n.-4G>A) n.480G>A c.192G>A (p.Lys64=) n.286G>A c.189G>A (p.Lys63=) c.129G>A (p.Lys43=) c.123G>A (p.Lys41=) c.279G>A (p.Lys93=) | |
14 | g.68925587T>A | CA390177936 | ACTN1 | c.-5A>T (n.-5A>T) n.479A>T c.191A>T (p.Lys64Met) n.285A>T c.188A>T (p.Lys63Met) c.128A>T (p.Lys43Met) c.122A>T (p.Lys41Met) c.278A>T (p.Lys93Met) | |
14 | g.68925587T>C | CA390177937 | ACTN1 | c.-5A>G (n.-5A>G) n.479A>G c.191A>G (p.Lys64Arg) n.285A>G c.188A>G (p.Lys63Arg) c.128A>G (p.Lys43Arg) c.122A>G (p.Lys41Arg) c.278A>G (p.Lys93Arg) | |
14 | g.68925587T>G | CA390177938 | ACTN1 | c.-5A>C (n.-5A>C) n.479A>C c.191A>C (p.Lys64Thr) n.285A>C c.188A>C (p.Lys63Thr) c.128A>C (p.Lys43Thr) c.122A>C (p.Lys41Thr) c.278A>C (p.Lys93Thr) | |
14 | g.68925588T>A | CA390177939 | ACTN1 | c.-6A>T (n.-6A>T) n.478A>T c.190A>T (p.Lys64Ter) n.284A>T c.187A>T (p.Lys63Ter) c.127A>T (p.Lys43Ter) c.121A>T (p.Lys41Ter) c.277A>T (p.Lys93Ter) | |
14 | g.68925588T>C | CA390177940 | ACTN1 | c.-6A>G (n.-6A>G) n.478A>G c.190A>G (p.Lys64Glu) n.284A>G c.187A>G (p.Lys63Glu) c.127A>G (p.Lys43Glu) c.121A>G (p.Lys41Glu) c.277A>G (p.Lys93Glu) | |
14 | g.68925588T>G | CA390177941 | ACTN1 | c.-6A>C (n.-6A>C) n.478A>C c.190A>C (p.Lys64Gln) n.284A>C c.187A>C (p.Lys63Gln) c.127A>C (p.Lys43Gln) c.121A>C (p.Lys41Gln) c.277A>C (p.Lys93Gln) | |
14 | g.68925589C>A | CA486985192 | ACTN1 | c.-7G>T (n.-7G>T) n.477G>T c.189G>T (p.Leu63=) n.283G>T c.186G>T (p.Leu62=) c.126G>T (p.Leu42=) c.120G>T (p.Leu40=) c.276G>T (p.Leu92=) | |
14 | g.68925589C>G | CA486985193 | ACTN1 | c.-7G>C (n.-7G>C) n.477G>C c.189G>C (p.Leu63=) n.283G>C c.186G>C (p.Leu62=) c.126G>C (p.Leu42=) c.120G>C (p.Leu40=) c.276G>C (p.Leu92=) | |
14 | g.68925589C>T | CA486985194 | ACTN1 | c.-7G>A (n.-7G>A) n.477G>A c.189G>A (p.Leu63=) n.283G>A c.186G>A (p.Leu62=) c.126G>A (p.Leu42=) c.120G>A (p.Leu40=) c.276G>A (p.Leu92=) | |
14 | g.68925590A= | CA2144526290 | ACTN1 | c.-8T= (n.-8T=) n.476T= c.188T= (p.Leu63=) n.282T= c.185T= (p.Leu62=) c.125T= (p.Leu42=) c.119T= (p.Leu40=) c.275T= (p.Leu92=) | |
14 | g.68925590A>C | CA390177942 | ACTN1 | c.-8T>G (n.-8T>G) n.476T>G c.188T>G (p.Leu63Arg) n.282T>G c.185T>G (p.Leu62Arg) c.125T>G (p.Leu42Arg) c.119T>G (p.Leu40Arg) c.275T>G (p.Leu92Arg) | |
14 | g.68925590A>G | CA390177944 | ACTN1 | c.-8T>C (n.-8T>C) n.476T>C c.188T>C (p.Leu63Pro) n.282T>C c.185T>C (p.Leu62Pro) c.125T>C (p.Leu42Pro) c.119T>C (p.Leu40Pro) c.275T>C (p.Leu92Pro) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.68925590A>T | CA390177943 | ACTN1 | c.-8T>A (n.-8T>A) n.476T>A c.188T>A (p.Leu63Gln) n.282T>A c.185T>A (p.Leu62Gln) c.125T>A (p.Leu42Gln) c.119T>A (p.Leu40Gln) c.275T>A (p.Leu92Gln) | |
14 | g.68925591G>A | CA486985195 | ACTN1 | c.-9C>T (n.-9C>T) n.475C>T c.187C>T (p.Leu63=) n.281C>T c.184C>T (p.Leu62=) c.124C>T (p.Leu42=) c.118C>T (p.Leu40=) c.274C>T (p.Leu92=) | |
14 | g.68925591G>C | CA390177945 | ACTN1 | c.-9C>G (n.-9C>G) n.475C>G c.187C>G (p.Leu63Val) n.281C>G c.184C>G (p.Leu62Val) c.124C>G (p.Leu42Val) c.118C>G (p.Leu40Val) c.274C>G (p.Leu92Val) | |
14 | g.68925591G>T | CA390177946 | ACTN1 | c.-9C>A (n.-9C>A) n.475C>A c.187C>A (p.Leu63Met) n.281C>A c.184C>A (p.Leu62Met) c.124C>A (p.Leu42Met) c.118C>A (p.Leu40Met) c.274C>A (p.Leu92Met) | |
14 | g.68925592G>A | CA486985198 | ACTN1 | c.-10C>T (n.-10C>T) n.474C>T c.186C>T (p.Gly62=) n.280C>T c.183C>T (p.Gly61=) c.123C>T (p.Gly41=) c.117C>T (p.Gly39=) c.273C>T (p.Gly91=) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
14 | g.68925592G>C | CA486985197 | ACTN1 | c.-10C>G (n.-10C>G) n.474C>G c.186C>G (p.Gly62=) n.280C>G c.183C>G (p.Gly61=) c.123C>G (p.Gly41=) c.117C>G (p.Gly39=) c.273C>G (p.Gly91=) | |
14 | g.68925592G= | CA2144526291 | ACTN1 | c.-10C= (n.-10C=) n.474C= c.186C= (p.Gly62=) n.280C= c.183C= (p.Gly61=) c.123C= (p.Gly41=) c.117C= (p.Gly39=) c.273C= (p.Gly91=) | |
14 | g.68925592G>T | CA486985196 | ACTN1 | c.-10C>A (n.-10C>A) n.474C>A c.186C>A (p.Gly62=) n.280C>A c.183C>A (p.Gly61=) c.123C>A (p.Gly41=) c.117C>A (p.Gly39=) c.273C>A (p.Gly91=) | |
14 | g.68925593C>A | CA390177947 | ACTN1 | c.-11G>T (n.-11G>T) n.473G>T c.185G>T (p.Gly62Val) n.279G>T c.182G>T (p.Gly61Val) c.122G>T (p.Gly41Val) c.116G>T (p.Gly39Val) c.272G>T (p.Gly91Val) | |
14 | g.68925593C>G | CA390177948 | ACTN1 | c.-11G>C (n.-11G>C) n.473G>C c.185G>C (p.Gly62Ala) n.279G>C c.182G>C (p.Gly61Ala) c.122G>C (p.Gly41Ala) c.116G>C (p.Gly39Ala) c.272G>C (p.Gly91Ala) | |
14 | g.68925593C>T | CA390177949 | ACTN1 | c.-11G>A (n.-11G>A) n.473G>A c.185G>A (p.Gly62Asp) n.279G>A c.182G>A (p.Gly61Asp) c.122G>A (p.Gly41Asp) c.116G>A (p.Gly39Asp) c.272G>A (p.Gly91Asp) | |
14 | g.68925594C>A | CA390177950 | ACTN1 | c.-12G>T (n.-12G>T) n.472G>T c.184G>T (p.Gly62Cys) n.278G>T c.181G>T (p.Gly61Cys) c.121G>T (p.Gly41Cys) c.115G>T (p.Gly39Cys) c.271G>T (p.Gly91Cys) | |
14 | g.68925594C>G | CA390177951 | ACTN1 | c.-12G>C (n.-12G>C) n.472G>C c.184G>C (p.Gly62Arg) n.278G>C c.181G>C (p.Gly61Arg) c.121G>C (p.Gly41Arg) c.115G>C (p.Gly39Arg) c.271G>C (p.Gly91Arg) | |
14 | g.68925594C>T | CA390177952 | ACTN1 | c.-12G>A (n.-12G>A) n.472G>A c.184G>A (p.Gly62Ser) n.278G>A c.181G>A (p.Gly61Ser) c.121G>A (p.Gly41Ser) c.115G>A (p.Gly39Ser) c.271G>A (p.Gly91Ser) | |
14 | g.68925595A>C | CA390177953 | ACTN1 | c.-13T>G (n.-13T>G) n.471T>G c.183T>G (p.Asp61Glu) n.277T>G c.180T>G (p.Asp60Glu) c.120T>G (p.Asp40Glu) c.114T>G (p.Asp38Glu) c.270T>G (p.Asp90Glu) | |
14 | g.68925595A>G | CA486985201 | ACTN1 | c.-13T>C (n.-13T>C) n.471T>C c.183T>C (p.Asp61=) n.277T>C c.180T>C (p.Asp60=) c.120T>C (p.Asp40=) c.114T>C (p.Asp38=) c.270T>C (p.Asp90=) | |
14 | g.68925595A>T | CA390177954 | ACTN1 | c.-13T>A (n.-13T>A) n.471T>A c.183T>A (p.Asp61Glu) n.277T>A c.180T>A (p.Asp60Glu) c.120T>A (p.Asp40Glu) c.114T>A (p.Asp38Glu) c.270T>A (p.Asp90Glu) | |
14 | g.68925596T>A | CA390177957 | ACTN1 | c.-14A>T (n.-14A>T) n.470A>T c.182A>T (p.Asp61Val) n.276A>T c.179A>T (p.Asp60Val) c.119A>T (p.Asp40Val) c.113A>T (p.Asp38Val) c.269A>T (p.Asp90Val) | dbSNP |
14 | g.68925596T>C | CA390177956 | ACTN1 | c.-14A>G (n.-14A>G) n.470A>G c.182A>G (p.Asp61Gly) n.276A>G c.179A>G (p.Asp60Gly) c.119A>G (p.Asp40Gly) c.113A>G (p.Asp38Gly) c.269A>G (p.Asp90Gly) | |
14 | g.68925596T>G | CA390177955 | ACTN1 | c.-14A>C (n.-14A>C) n.470A>C c.182A>C (p.Asp61Ala) n.276A>C c.179A>C (p.Asp60Ala) c.119A>C (p.Asp40Ala) c.113A>C (p.Asp38Ala) c.269A>C (p.Asp90Ala) | gnomAD v4 |
14 | g.68925596T= | CA2144526292 | ACTN1 | c.-14A= (n.-14A=) n.470A= c.182A= (p.Asp61=) n.276A= c.179A= (p.Asp60=) c.119A= (p.Asp40=) c.113A= (p.Asp38=) c.269A= (p.Asp90=) | |
14 | g.68925597C>A | CA390177958 | ACTN1 | c.-15G>T (n.-15G>T) n.469G>T c.181G>T (p.Asp61Tyr) n.275G>T c.178G>T (p.Asp60Tyr) c.118G>T (p.Asp40Tyr) c.112G>T (p.Asp38Tyr) c.268G>T (p.Asp90Tyr) | |
14 | g.68925597C>G | CA390177959 | ACTN1 | c.-15G>C (n.-15G>C) n.469G>C c.181G>C (p.Asp61His) n.275G>C c.178G>C (p.Asp60His) c.118G>C (p.Asp40His) c.112G>C (p.Asp38His) c.268G>C (p.Asp90His) | |
14 | g.68925597C>T | CA390177960 | ACTN1 | c.-15G>A (n.-15G>A) n.469G>A c.181G>A (p.Asp61Asn) n.275G>A c.178G>A (p.Asp60Asn) c.118G>A (p.Asp40Asn) c.112G>A (p.Asp38Asn) c.268G>A (p.Asp90Asn) | |
14 | g.68925598C>A | CA486985207 | ACTN1 | c.-16G>T (n.-16G>T) n.468G>T c.180G>T (p.Arg60=) n.274G>T c.177G>T (p.Arg59=) c.117G>T (p.Arg39=) c.111G>T (p.Arg37=) c.267G>T (p.Arg89=) | |
14 | g.68925598C>G | CA486985205 | ACTN1 | c.-16G>C (n.-16G>C) n.468G>C c.180G>C (p.Arg60=) n.274G>C c.177G>C (p.Arg59=) c.117G>C (p.Arg39=) c.111G>C (p.Arg37=) c.267G>C (p.Arg89=) | |
14 | g.68925598C>T | CA486985206 | ACTN1 | c.-16G>A (n.-16G>A) n.468G>A c.180G>A (p.Arg60=) n.274G>A c.177G>A (p.Arg59=) c.117G>A (p.Arg39=) c.111G>A (p.Arg37=) c.267G>A (p.Arg89=) | |
14 | g.68925599C>A | CA390177961 | ACTN1 | c.-17G>T (n.-17G>T) n.467G>T c.179G>T (p.Arg60Leu) n.273G>T c.176G>T (p.Arg59Leu) c.116G>T (p.Arg39Leu) c.110G>T (p.Arg37Leu) c.266G>T (p.Arg89Leu) | |
14 | g.68925599C= | CA2144526293 | ACTN1 | c.-17G= (n.-17G=) n.467G= c.179G= (p.Arg60=) n.273G= c.176G= (p.Arg59=) c.116G= (p.Arg39=) c.110G= (p.Arg37=) c.266G= (p.Arg89=) | |
14 | g.68925599C>G | CA390177962 | ACTN1 | c.-17G>C (n.-17G>C) n.467G>C c.179G>C (p.Arg60Pro) n.273G>C c.176G>C (p.Arg59Pro) c.116G>C (p.Arg39Pro) c.110G>C (p.Arg37Pro) c.266G>C (p.Arg89Pro) | |
14 | g.68925599C>T | CA7242789 | ACTN1 | c.-17G>A (n.-17G>A) n.467G>A c.179G>A (p.Arg60Gln) n.273G>A c.176G>A (p.Arg59Gln) c.116G>A (p.Arg39Gln) c.110G>A (p.Arg37Gln) c.266G>A (p.Arg89Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.68925600G>A | CA262874364 | ACTN1 | c.-18C>T (n.-18C>T) n.466C>T c.178C>T (p.Arg60Trp) n.272C>T c.175C>T (p.Arg59Trp) c.115C>T (p.Arg39Trp) c.109C>T (p.Arg37Trp) c.265C>T (p.Arg89Trp) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.68925600G>C | CA390177963 | ACTN1 | c.-18C>G (n.-18C>G) n.466C>G c.178C>G (p.Arg60Gly) n.272C>G c.175C>G (p.Arg59Gly) c.115C>G (p.Arg39Gly) c.109C>G (p.Arg37Gly) c.265C>G (p.Arg89Gly) | |
14 | g.68925600G= | CA2144526294 | ACTN1 | c.-18C= (n.-18C=) n.466C= c.178C= (p.Arg60=) n.272C= c.175C= (p.Arg59=) c.115C= (p.Arg39=) c.109C= (p.Arg37=) c.265C= (p.Arg89=) | |
14 | g.68925600G>T | CA486985209 | ACTN1 | c.-18C>A (n.-18C>A) n.466C>A c.178C>A (p.Arg60=) n.272C>A c.175C>A (p.Arg59=) c.115C>A (p.Arg39=) c.109C>A (p.Arg37=) c.265C>A (p.Arg89=) | |
14 | g.68925601G>A | CA486985210 | ACTN1 | c.-19C>T (n.-19C>T) n.465C>T c.177C>T (p.Phe59=) n.271C>T c.174C>T (p.Phe58=) c.114C>T (p.Phe38=) c.108C>T (p.Phe36=) c.264C>T (p.Phe88=) | |
14 | g.68925601G>C | CA390177964 | ACTN1 | c.-19C>G (n.-19C>G) n.465C>G c.177C>G (p.Phe59Leu) n.271C>G c.174C>G (p.Phe58Leu) c.114C>G (p.Phe38Leu) c.108C>G (p.Phe36Leu) c.264C>G (p.Phe88Leu) | dbSNP gnomAD v2 |
14 | g.68925601G= | CA2144526295 | ACTN1 | c.-19C= (n.-19C=) n.465C= c.177C= (p.Phe59=) n.271C= c.174C= (p.Phe58=) c.114C= (p.Phe38=) c.108C= (p.Phe36=) c.264C= (p.Phe88=) | |
14 | g.68925601G>T | CA390177965 | ACTN1 | c.-19C>A (n.-19C>A) n.465C>A c.177C>A (p.Phe59Leu) n.271C>A c.174C>A (p.Phe58Leu) c.114C>A (p.Phe38Leu) c.108C>A (p.Phe36Leu) c.264C>A (p.Phe88Leu) | gnomAD v4 |
14 | g.68925602A= | CA2144526296 | ACTN1 | c.-20T= (n.-20T=) n.464T= c.176T= (p.Phe59=) n.270T= c.173T= (p.Phe58=) c.113T= (p.Phe38=) c.107T= (p.Phe36=) c.263T= (p.Phe88=) | |
14 | g.68925602A>C | CA390177966 | ACTN1 | c.-20T>G (n.-20T>G) n.464T>G c.176T>G (p.Phe59Cys) n.270T>G c.173T>G (p.Phe58Cys) c.113T>G (p.Phe38Cys) c.107T>G (p.Phe36Cys) c.263T>G (p.Phe88Cys) | gnomAD v4 |
14 | g.68925602A>G | CA390177967 | ACTN1 | c.-20T>C (n.-20T>C) n.464T>C c.176T>C (p.Phe59Ser) n.270T>C c.173T>C (p.Phe58Ser) c.113T>C (p.Phe38Ser) c.107T>C (p.Phe36Ser) c.263T>C (p.Phe88Ser) | |
14 | g.68925602A>T | CA7242790 | ACTN1 | c.-20T>A (n.-20T>A) n.464T>A c.176T>A (p.Phe59Tyr) n.270T>A c.173T>A (p.Phe58Tyr) c.113T>A (p.Phe38Tyr) c.107T>A (p.Phe36Tyr) c.263T>A (p.Phe88Tyr) | dbSNP ExAC gnomAD v4 |
14 | g.68925603A>C | CA390177970 | ACTN1 | c.-21T>G (n.-21T>G) n.463T>G c.175T>G (p.Phe59Val) n.269T>G c.172T>G (p.Phe58Val) c.112T>G (p.Phe38Val) c.106T>G (p.Phe36Val) c.262T>G (p.Phe88Val) | |
14 | g.68925603A>G | CA390177969 | ACTN1 | c.-21T>C (n.-21T>C) n.463T>C c.175T>C (p.Phe59Leu) n.269T>C c.172T>C (p.Phe58Leu) c.112T>C (p.Phe38Leu) c.106T>C (p.Phe36Leu) c.262T>C (p.Phe88Leu) | |
14 | g.68925603A>T | CA390177968 | ACTN1 | c.-21T>A (n.-21T>A) n.463T>A c.175T>A (p.Phe59Ile) n.269T>A c.172T>A (p.Phe58Ile) c.112T>A (p.Phe38Ile) c.106T>A (p.Phe36Ile) c.262T>A (p.Phe88Ile) | |
14 | g.68925604G>A | CA486985215 | ACTN1 | c.-22C>T (n.-22C>T) n.462C>T c.174C>T (p.Asp58=) n.268C>T c.171C>T (p.Asp57=) c.111C>T (p.Asp37=) c.105C>T (p.Asp35=) c.261C>T (p.Asp87=) | |
14 | g.68925604G>C | CA390177971 | ACTN1 | c.-22C>G (n.-22C>G) n.462C>G c.174C>G (p.Asp58Glu) n.268C>G c.171C>G (p.Asp57Glu) c.111C>G (p.Asp37Glu) c.105C>G (p.Asp35Glu) c.261C>G (p.Asp87Glu) | |
14 | g.68925604G>T | CA390177972 | ACTN1 | c.-22C>A (n.-22C>A) n.462C>A c.174C>A (p.Asp58Glu) n.268C>A c.171C>A (p.Asp57Glu) c.111C>A (p.Asp37Glu) c.105C>A (p.Asp35Glu) c.261C>A (p.Asp87Glu) | |
14 | g.68925605T>A | CA390177973 | ACTN1 | c.-23A>T (n.-23A>T) n.461A>T c.173A>T (p.Asp58Val) n.267A>T c.170A>T (p.Asp57Val) c.110A>T (p.Asp37Val) c.104A>T (p.Asp35Val) c.260A>T (p.Asp87Val) | |
14 | g.68925605T>C | CA390177974 | ACTN1 | c.-23A>G (n.-23A>G) n.461A>G c.173A>G (p.Asp58Gly) n.267A>G c.170A>G (p.Asp57Gly) c.110A>G (p.Asp37Gly) c.104A>G (p.Asp35Gly) c.260A>G (p.Asp87Gly) | |
14 | g.68925605T>G | CA390177975 | ACTN1 | c.-23A>C (n.-23A>C) n.461A>C c.173A>C (p.Asp58Ala) n.267A>C c.170A>C (p.Asp57Ala) c.110A>C (p.Asp37Ala) c.104A>C (p.Asp35Ala) c.260A>C (p.Asp87Ala) | |
14 | g.68925606C>A | CA390177976 | ACTN1 | c.-24G>T (n.-24G>T) n.460G>T c.172G>T (p.Asp58Tyr) n.266G>T c.169G>T (p.Asp57Tyr) c.109G>T (p.Asp37Tyr) c.103G>T (p.Asp35Tyr) c.259G>T (p.Asp87Tyr) | |
14 | g.68925606C>G | CA390177977 | ACTN1 | c.-24G>C (n.-24G>C) n.460G>C c.172G>C (p.Asp58His) n.266G>C c.169G>C (p.Asp57His) c.109G>C (p.Asp37His) c.103G>C (p.Asp35His) c.259G>C (p.Asp87His) | |
14 | g.68925606C>T | CA390177978 | ACTN1 | c.-24G>A (n.-24G>A) n.460G>A c.172G>A (p.Asp58Asn) n.266G>A c.169G>A (p.Asp57Asn) c.109G>A (p.Asp37Asn) c.103G>A (p.Asp35Asn) c.259G>A (p.Asp87Asn) | |
14 | g.68925607C>A | CA390177979 | ACTN1 | c.-25G>T (n.-25G>T) n.459G>T c.171G>T (p.Glu57Asp) n.265G>T c.168G>T (p.Glu56Asp) c.108G>T (p.Glu36Asp) c.102G>T (p.Glu34Asp) c.258G>T (p.Glu86Asp) | |
14 | g.68925607C>G | CA390177980 | ACTN1 | c.-25G>C (n.-25G>C) n.459G>C c.171G>C (p.Glu57Asp) n.265G>C c.168G>C (p.Glu56Asp) c.108G>C (p.Glu36Asp) c.102G>C (p.Glu34Asp) c.258G>C (p.Glu86Asp) | |
14 | g.68925607C>T | CA486985219 | ACTN1 | c.-25G>A (n.-25G>A) n.459G>A c.171G>A (p.Glu57=) n.265G>A c.168G>A (p.Glu56=) c.108G>A (p.Glu36=) c.102G>A (p.Glu34=) c.258G>A (p.Glu86=) | |
14 | g.68925608T>A | CA390177981 | ACTN1 | c.-26A>T (n.-26A>T) n.458A>T c.170A>T (p.Glu57Val) n.264A>T c.167A>T (p.Glu56Val) c.107A>T (p.Glu36Val) c.101A>T (p.Glu34Val) c.257A>T (p.Glu86Val) | |
14 | g.68925608T>C | CA390177982 | ACTN1 | c.-26A>G (n.-26A>G) n.458A>G c.170A>G (p.Glu57Gly) n.264A>G c.167A>G (p.Glu56Gly) c.107A>G (p.Glu36Gly) c.101A>G (p.Glu34Gly) c.257A>G (p.Glu86Gly) | |
14 | g.68925608T>G | CA390177983 | ACTN1 | c.-26A>C (n.-26A>C) n.458A>C c.170A>C (p.Glu57Ala) n.264A>C c.167A>C (p.Glu56Ala) c.107A>C (p.Glu36Ala) c.101A>C (p.Glu34Ala) c.257A>C (p.Glu86Ala) | |
14 | g.68925609C>A | CA390177985 | ACTN1 | c.-27G>T (n.-27G>T) n.457G>T c.169G>T (p.Glu57Ter) n.263G>T c.166G>T (p.Glu56Ter) c.106G>T (p.Glu36Ter) c.100G>T (p.Glu34Ter) c.256G>T (p.Glu86Ter) | |
14 | g.68925609C>G | CA390177986 | ACTN1 | c.-27G>C (n.-27G>C) n.457G>C c.169G>C (p.Glu57Gln) n.263G>C c.166G>C (p.Glu56Gln) c.106G>C (p.Glu36Gln) c.100G>C (p.Glu34Gln) c.256G>C (p.Glu86Gln) | |
14 | g.68925609C>T | CA390177984 | ACTN1 | c.-27G>A (n.-27G>A) n.457G>A c.169G>A (p.Glu57Lys) n.263G>A c.166G>A (p.Glu56Lys) c.106G>A (p.Glu36Lys) c.100G>A (p.Glu34Lys) c.256G>A (p.Glu86Lys) | |
14 | g.68925610T>A | CA390177987 | ACTN1 | c.-28A>T (n.-28A>T) n.456A>T c.168A>T (p.Glu56Asp) n.262A>T c.165A>T (p.Glu55Asp) c.105A>T (p.Glu35Asp) c.99A>T (p.Glu33Asp) c.255A>T (p.Glu85Asp) | |
14 | g.68925610T>C | CA486985220 | ACTN1 | c.-28A>G (n.-28A>G) n.456A>G c.168A>G (p.Glu56=) n.262A>G c.165A>G (p.Glu55=) c.105A>G (p.Glu35=) c.99A>G (p.Glu33=) c.255A>G (p.Glu85=) | |
14 | g.68925610T>G | CA390177988 | ACTN1 | c.-28A>C (n.-28A>C) n.456A>C c.168A>C (p.Glu56Asp) n.262A>C c.165A>C (p.Glu55Asp) c.105A>C (p.Glu35Asp) c.99A>C (p.Glu33Asp) c.255A>C (p.Glu85Asp) | |
14 | g.68925611T>A | CA390177989 | ACTN1 | c.-29A>T (n.-29A>T) n.455A>T c.167A>T (p.Glu56Val) n.261A>T c.164A>T (p.Glu55Val) c.104A>T (p.Glu35Val) c.98A>T (p.Glu33Val) c.254A>T (p.Glu85Val) | |
14 | g.68925611T>C | CA390177990 | ACTN1 | c.-29A>G (n.-29A>G) n.455A>G c.167A>G (p.Glu56Gly) n.261A>G c.164A>G (p.Glu55Gly) c.104A>G (p.Glu35Gly) c.98A>G (p.Glu33Gly) c.254A>G (p.Glu85Gly) | |
14 | g.68925611T>G | CA390177991 | ACTN1 | c.-29A>C (n.-29A>C) n.455A>C c.167A>C (p.Glu56Ala) n.261A>C c.164A>C (p.Glu55Ala) c.104A>C (p.Glu35Ala) c.98A>C (p.Glu33Ala) c.254A>C (p.Glu85Ala) | |
14 | g.68925612C>A | CA390177992 | ACTN1 | c.-30G>T (n.-30G>T) n.454G>T c.166G>T (p.Glu56Ter) n.260G>T c.163G>T (p.Glu55Ter) c.103G>T (p.Glu35Ter) c.97G>T (p.Glu33Ter) c.253G>T (p.Glu85Ter) | |
14 | g.68925612C= | CA2144526297 | ACTN1 | c.-30G= (n.-30G=) n.454G= c.166G= (p.Glu56=) n.260G= c.163G= (p.Glu55=) c.103G= (p.Glu35=) c.97G= (p.Glu33=) c.253G= (p.Glu85=) | |
14 | g.68925612C>G | CA390177993 | ACTN1 | c.-30G>C (n.-30G>C) n.454G>C c.166G>C (p.Glu56Gln) n.260G>C c.163G>C (p.Glu55Gln) c.103G>C (p.Glu35Gln) c.97G>C (p.Glu33Gln) c.253G>C (p.Glu85Gln) | |
14 | g.68925612C>T | CA7242791 | ACTN1 | c.-30G>A (n.-30G>A) n.454G>A c.166G>A (p.Glu56Lys) n.260G>A c.163G>A (p.Glu55Lys) c.103G>A (p.Glu35Lys) c.97G>A (p.Glu33Lys) c.253G>A (p.Glu85Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.68925613G>A | CA7242792 | ACTN1 | c.-31C>T (n.-31C>T) n.453C>T c.165C>T (p.Ile55=) n.259C>T c.162C>T (p.Ile54=) c.102C>T (p.Ile34=) c.96C>T (p.Ile32=) c.252C>T (p.Ile84=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.68925613G>C | CA7242793 | ACTN1 | c.-31C>G (n.-31C>G) n.453C>G c.165C>G (p.Ile55Met) n.259C>G c.162C>G (p.Ile54Met) c.102C>G (p.Ile34Met) c.96C>G (p.Ile32Met) c.252C>G (p.Ile84Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.68925613G= | CA2144526298 | ACTN1 | c.-31C= (n.-31C=) n.453C= c.165C= (p.Ile55=) n.259C= c.162C= (p.Ile54=) c.102C= (p.Ile34=) c.96C= (p.Ile32=) c.252C= (p.Ile84=) | |
14 | g.68925613G>T | CA486985223 | ACTN1 | c.-31C>A (n.-31C>A) n.453C>A c.165C>A (p.Ile55=) n.259C>A c.162C>A (p.Ile54=) c.102C>A (p.Ile34=) c.96C>A (p.Ile32=) c.252C>A (p.Ile84=) | |
14 | g.68925614A>C | CA390177994 | ACTN1 | c.-32T>G (n.-32T>G) n.452T>G c.164T>G (p.Ile55Ser) n.258T>G c.161T>G (p.Ile54Ser) c.101T>G (p.Ile34Ser) c.95T>G (p.Ile32Ser) c.251T>G (p.Ile84Ser) | |
14 | g.68925614A>G | CA390177995 | ACTN1 | c.-32T>C (n.-32T>C) n.452T>C c.164T>C (p.Ile55Thr) n.258T>C c.161T>C (p.Ile54Thr) c.101T>C (p.Ile34Thr) c.95T>C (p.Ile32Thr) c.251T>C (p.Ile84Thr) | |
14 | g.68925614A>T | CA390177996 | ACTN1 | c.-32T>A (n.-32T>A) n.452T>A c.164T>A (p.Ile55Asn) n.258T>A c.161T>A (p.Ile54Asn) c.101T>A (p.Ile34Asn) c.95T>A (p.Ile32Asn) c.251T>A (p.Ile84Asn) | |
14 | g.68925615T>A | CA390177997 | ACTN1 | c.-33A>T (n.-33A>T) n.451A>T c.163A>T (p.Ile55Phe) n.257A>T c.160A>T (p.Ile54Phe) c.100A>T (p.Ile34Phe) c.94A>T (p.Ile32Phe) c.250A>T (p.Ile84Phe) | |
14 | g.68925615T>C | CA390177999 | ACTN1 | c.-33A>G (n.-33A>G) n.451A>G c.163A>G (p.Ile55Val) n.257A>G c.160A>G (p.Ile54Val) c.100A>G (p.Ile34Val) c.94A>G (p.Ile32Val) c.250A>G (p.Ile84Val) | gnomAD v4 |
14 | g.68925615T>G | CA390177998 | ACTN1 | c.-33A>C (n.-33A>C) n.451A>C c.163A>C (p.Ile55Leu) n.257A>C c.160A>C (p.Ile54Leu) c.100A>C (p.Ile34Leu) c.94A>C (p.Ile32Leu) c.250A>C (p.Ile84Leu) | |
14 | g.68925616G>A | CA486985226 | ACTN1 | c.-34C>T (n.-34C>T) n.450C>T c.162C>T (p.Asn54=) n.256C>T c.159C>T (p.Asn53=) c.99C>T (p.Asn33=) c.93C>T (p.Asn31=) c.249C>T (p.Asn83=) | |
14 | g.68925616G>C | CA390178000 | ACTN1 | c.-34C>G (n.-34C>G) n.450C>G c.162C>G (p.Asn54Lys) n.256C>G c.159C>G (p.Asn53Lys) c.99C>G (p.Asn33Lys) c.93C>G (p.Asn31Lys) c.249C>G (p.Asn83Lys) | |
14 | g.68925616G>T | CA390178001 | ACTN1 | c.-34C>A (n.-34C>A) n.450C>A c.162C>A (p.Asn54Lys) n.256C>A c.159C>A (p.Asn53Lys) c.99C>A (p.Asn33Lys) c.93C>A (p.Asn31Lys) c.249C>A (p.Asn83Lys) | |
14 | g.68925617T>A | CA390178002 | ACTN1 | c.-35A>T (n.-35A>T) n.449A>T c.161A>T (p.Asn54Ile) n.255A>T c.158A>T (p.Asn53Ile) c.98A>T (p.Asn33Ile) c.92A>T (p.Asn31Ile) c.248A>T (p.Asn83Ile) | |
14 | g.68925617T>C | CA390178003 | ACTN1 | c.-35A>G (n.-35A>G) n.449A>G c.161A>G (p.Asn54Ser) n.255A>G c.158A>G (p.Asn53Ser) c.98A>G (p.Asn33Ser) c.92A>G (p.Asn31Ser) c.248A>G (p.Asn83Ser) | |
14 | g.68925617T>G | CA390178004 | ACTN1 | c.-35A>C (n.-35A>C) n.449A>C c.161A>C (p.Asn54Thr) n.255A>C c.158A>C (p.Asn53Thr) c.98A>C (p.Asn33Thr) c.92A>C (p.Asn31Thr) c.248A>C (p.Asn83Thr) | |
14 | g.68925618T>A | CA390178005 | ACTN1 | c.-36A>T (n.-36A>T) n.448A>T c.160A>T (p.Asn54Tyr) n.254A>T c.157A>T (p.Asn53Tyr) c.97A>T (p.Asn33Tyr) c.91A>T (p.Asn31Tyr) c.247A>T (p.Asn83Tyr) | |
14 | g.68925618T>C | CA390178006 | ACTN1 | c.-36A>G (n.-36A>G) n.448A>G c.160A>G (p.Asn54Asp) n.254A>G c.157A>G (p.Asn53Asp) c.97A>G (p.Asn33Asp) c.91A>G (p.Asn31Asp) c.247A>G (p.Asn83Asp) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.68925618T>G | CA390178007 | ACTN1 | c.-36A>C (n.-36A>C) n.448A>C c.160A>C (p.Asn54His) n.254A>C c.157A>C (p.Asn53His) c.97A>C (p.Asn33His) c.91A>C (p.Asn31His) c.247A>C (p.Asn83His) | |
14 | g.68925618T= | CA2144526299 | ACTN1 | c.-36A= (n.-36A=) n.448A= c.160A= (p.Asn54=) n.254A= c.157A= (p.Asn53=) c.97A= (p.Asn33=) c.91A= (p.Asn31=) c.247A= (p.Asn83=) | |
14 | g.68925619C>A | CA390178008 | ACTN1 | c.-37G>T (n.-37G>T) n.447G>T c.159G>T (p.Glu53Asp) n.253G>T c.156G>T (p.Glu52Asp) c.96G>T (p.Glu32Asp) c.90G>T (p.Glu30Asp) c.246G>T (p.Glu82Asp) | |
14 | g.68925619C>G | CA390178009 | ACTN1 | c.-37G>C (n.-37G>C) n.447G>C c.159G>C (p.Glu53Asp) n.253G>C c.156G>C (p.Glu52Asp) c.96G>C (p.Glu32Asp) c.90G>C (p.Glu30Asp) c.246G>C (p.Glu82Asp) | |
14 | g.68925619C>T | CA486985234 | ACTN1 | c.-37G>A (n.-37G>A) n.447G>A c.159G>A (p.Glu53=) n.253G>A c.156G>A (p.Glu52=) c.96G>A (p.Glu32=) c.90G>A (p.Glu30=) c.246G>A (p.Glu82=) | gnomAD v4 |
14 | g.68925620T>A | CA390178012 | ACTN1 | c.-38A>T (n.-38A>T) n.446A>T c.158A>T (p.Glu53Val) n.252A>T c.155A>T (p.Glu52Val) c.95A>T (p.Glu32Val) c.89A>T (p.Glu30Val) c.245A>T (p.Glu82Val) | |
14 | g.68925620T>C | CA390178011 | ACTN1 | c.-38A>G (n.-38A>G) n.446A>G c.158A>G (p.Glu53Gly) n.252A>G c.155A>G (p.Glu52Gly) c.95A>G (p.Glu32Gly) c.89A>G (p.Glu30Gly) c.245A>G (p.Glu82Gly) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.68925620T>G | CA390178010 | ACTN1 | c.-38A>C (n.-38A>C) n.446A>C c.158A>C (p.Glu53Ala) n.252A>C c.155A>C (p.Glu52Ala) c.95A>C (p.Glu32Ala) c.89A>C (p.Glu30Ala) c.245A>C (p.Glu82Ala) | |
14 | g.68925620T= | CA2144526300 | ACTN1 | c.-38A= (n.-38A=) n.446A= c.158A= (p.Glu53=) n.252A= c.155A= (p.Glu52=) c.95A= (p.Glu32=) c.89A= (p.Glu30=) c.245A= (p.Glu82=) | |
14 | g.68925621C>A | CA390178013 | ACTN1 | c.-39G>T (n.-39G>T) n.445G>T c.157G>T (p.Glu53Ter) n.251G>T c.154G>T (p.Glu52Ter) c.94G>T (p.Glu32Ter) c.88G>T (p.Glu30Ter) c.244G>T (p.Glu82Ter) | |
14 | g.68925621C= | CA2144526301 | ACTN1 | c.-39G= (n.-39G=) n.445G= c.157G= (p.Glu53=) n.251G= c.154G= (p.Glu52=) c.94G= (p.Glu32=) c.88G= (p.Glu30=) c.244G= (p.Glu82=) | |
14 | g.68925621C>G | CA390178015 | ACTN1 | c.-39G>C (n.-39G>C) n.445G>C c.157G>C (p.Glu53Gln) n.251G>C c.154G>C (p.Glu52Gln) c.94G>C (p.Glu32Gln) c.88G>C (p.Glu30Gln) c.244G>C (p.Glu82Gln) | |
14 | g.68925621C>T | CA390178014 | ACTN1 | c.-39G>A (n.-39G>A) n.445G>A c.157G>A (p.Glu53Lys) n.251G>A c.154G>A (p.Glu52Lys) c.94G>A (p.Glu32Lys) c.88G>A (p.Glu30Lys) c.244G>A (p.Glu82Lys) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.68925622G>A | CA7242794 | ACTN1 | c.-40C>T (n.-40C>T) n.444C>T c.156C>T (p.Ile52=) n.250C>T c.153C>T (p.Ile51=) c.93C>T (p.Ile31=) c.87C>T (p.Ile29=) c.243C>T (p.Ile81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.68925622G>C | CA262874381 | ACTN1 | c.-40C>G (n.-40C>G) n.444C>G c.156C>G (p.Ile52Met) n.250C>G c.153C>G (p.Ile51Met) c.93C>G (p.Ile31Met) c.87C>G (p.Ile29Met) c.243C>G (p.Ile81Met) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.68925622G= | CA2144526302 | ACTN1 | c.-40C= (n.-40C=) n.444C= c.156C= (p.Ile52=) n.250C= c.153C= (p.Ile51=) c.93C= (p.Ile31=) c.87C= (p.Ile29=) c.243C= (p.Ile81=) | |
14 | g.68925622G>T | CA486985242 | ACTN1 | c.-40C>A (n.-40C>A) n.444C>A c.156C>A (p.Ile52=) n.250C>A c.153C>A (p.Ile51=) c.93C>A (p.Ile31=) c.87C>A (p.Ile29=) c.243C>A (p.Ile81=) | gnomAD v4 |
14 | g.68925623A>C | CA390178016 | ACTN1 | c.-41T>G (n.-41T>G) n.443T>G c.155T>G (p.Ile52Ser) n.249T>G c.152T>G (p.Ile51Ser) c.92T>G (p.Ile31Ser) c.86T>G (p.Ile29Ser) c.242T>G (p.Ile81Ser) | |
14 | g.68925623A>G | CA390178017 | ACTN1 | c.-41T>C (n.-41T>C) n.443T>C c.155T>C (p.Ile52Thr) n.249T>C c.152T>C (p.Ile51Thr) c.92T>C (p.Ile31Thr) c.86T>C (p.Ile29Thr) c.242T>C (p.Ile81Thr) | |
14 | g.68925623A>T | CA390178018 | ACTN1 | c.-41T>A (n.-41T>A) n.443T>A c.155T>A (p.Ile52Asn) n.249T>A c.152T>A (p.Ile51Asn) c.92T>A (p.Ile31Asn) c.86T>A (p.Ile29Asn) c.242T>A (p.Ile81Asn) |