Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.139325534C>ACA361146309MATR3c.2243C>A (p.Ser748Tyr)
c.2387C>A (p.Ser796Tyr)
n.1696C>A
c.1229C>A (p.Ser410Tyr)
c.1379C>A (p.Ser460Tyr)
n.5963C>A
n.421C>A
c.551C>A (p.Ser184Tyr)
c.1382C>A (p.Ser461Tyr)
c.1373C>A (p.Ser458Tyr)
c.1343C>A (p.Ser448Tyr)
5g.139325534C=CA1586265086MATR3c.2243C= (p.Ser748=)
c.2387C= (p.Ser796=)
n.1696C=
c.1229C= (p.Ser410=)
c.1379C= (p.Ser460=)
n.5963C=
n.421C=
c.551C= (p.Ser184=)
c.1382C= (p.Ser461=)
c.1373C= (p.Ser458=)
c.1343C= (p.Ser448=)
5g.139325534C>GCA128241004MATR3c.2243C>G (p.Ser748Cys)
c.2387C>G (p.Ser796Cys)
n.1696C>G
c.1229C>G (p.Ser410Cys)
c.1379C>G (p.Ser460Cys)
n.5963C>G
n.421C>G
c.551C>G (p.Ser184Cys)
c.1382C>G (p.Ser461Cys)
c.1373C>G (p.Ser458Cys)
c.1343C>G (p.Ser448Cys)
 dbSNP gnomAD v4
5g.139325534C>TCA361146311MATR3c.2243C>T (p.Ser748Phe)
c.2387C>T (p.Ser796Phe)
n.1696C>T
c.1229C>T (p.Ser410Phe)
c.1379C>T (p.Ser460Phe)
n.5963C>T
n.421C>T
c.551C>T (p.Ser184Phe)
c.1382C>T (p.Ser461Phe)
c.1373C>T (p.Ser458Phe)
c.1343C>T (p.Ser448Phe)
5g.139325535T>ACA446793623MATR3c.2244T>A (p.Ser748=)
c.2388T>A (p.Ser796=)
n.1697T>A
c.1230T>A (p.Ser410=)
c.1380T>A (p.Ser460=)
n.5964T>A
n.422T>A
c.552T>A (p.Ser184=)
c.1383T>A (p.Ser461=)
c.1374T>A (p.Ser458=)
c.1344T>A (p.Ser448=)
5g.139325535T>CCA446793625MATR3c.2244T>C (p.Ser748=)
c.2388T>C (p.Ser796=)
n.1697T>C
c.1230T>C (p.Ser410=)
c.1380T>C (p.Ser460=)
n.5964T>C
n.422T>C
c.552T>C (p.Ser184=)
c.1383T>C (p.Ser461=)
c.1374T>C (p.Ser458=)
c.1344T>C (p.Ser448=)
 dbSNP gnomAD v3 gnomAD v4
5g.139325535T>GCA446793624MATR3c.2244T>G (p.Ser748=)
c.2388T>G (p.Ser796=)
n.1697T>G
c.1230T>G (p.Ser410=)
c.1380T>G (p.Ser460=)
n.5964T>G
n.422T>G
c.552T>G (p.Ser184=)
c.1383T>G (p.Ser461=)
c.1374T>G (p.Ser458=)
c.1344T>G (p.Ser448=)
5g.139325535T=CA1586265088MATR3c.2244T= (p.Ser748=)
c.2388T= (p.Ser796=)
n.1697T=
c.1230T= (p.Ser410=)
c.1380T= (p.Ser460=)
n.5964T=
n.422T=
c.552T= (p.Ser184=)
c.1383T= (p.Ser461=)
c.1374T= (p.Ser458=)
c.1344T= (p.Ser448=)
5g.139325536G>ACA361146313MATR3c.2245G>A (p.Glu749Lys)
c.2389G>A (p.Glu797Lys)
n.1698G>A
c.1231G>A (p.Glu411Lys)
c.1381G>A (p.Glu461Lys)
n.5965G>A
n.423G>A
c.553G>A (p.Glu185Lys)
c.1384G>A (p.Glu462Lys)
c.1375G>A (p.Glu459Lys)
c.1345G>A (p.Glu449Lys)
 gnomAD v4
5g.139325536G>CCA361146314MATR3c.2245G>C (p.Glu749Gln)
c.2389G>C (p.Glu797Gln)
n.1698G>C
c.1231G>C (p.Glu411Gln)
c.1381G>C (p.Glu461Gln)
n.5965G>C
n.423G>C
c.553G>C (p.Glu185Gln)
c.1384G>C (p.Glu462Gln)
c.1375G>C (p.Glu459Gln)
c.1345G>C (p.Glu449Gln)
5g.139325536G>TCA361146316MATR3c.2245G>T (p.Glu749Ter)
c.2389G>T (p.Glu797Ter)
n.1698G>T
c.1231G>T (p.Glu411Ter)
c.1381G>T (p.Glu461Ter)
n.5965G>T
n.423G>T
c.553G>T (p.Glu185Ter)
c.1384G>T (p.Glu462Ter)
c.1375G>T (p.Glu459Ter)
c.1345G>T (p.Glu449Ter)
5g.139325537A>CCA361146321MATR3c.2246A>C (p.Glu749Ala)
c.2390A>C (p.Glu797Ala)
n.1699A>C
c.1232A>C (p.Glu411Ala)
c.1382A>C (p.Glu461Ala)
n.5966A>C
n.424A>C
c.554A>C (p.Glu185Ala)
c.1385A>C (p.Glu462Ala)
c.1376A>C (p.Glu459Ala)
c.1346A>C (p.Glu449Ala)
5g.139325537A>GCA361146318MATR3c.2246A>G (p.Glu749Gly)
c.2390A>G (p.Glu797Gly)
n.1699A>G
c.1232A>G (p.Glu411Gly)
c.1382A>G (p.Glu461Gly)
n.5966A>G
n.424A>G
c.554A>G (p.Glu185Gly)
c.1385A>G (p.Glu462Gly)
c.1376A>G (p.Glu459Gly)
c.1346A>G (p.Glu449Gly)
5g.139325537A>TCA361146320MATR3c.2246A>T (p.Glu749Val)
c.2390A>T (p.Glu797Val)
n.1699A>T
c.1232A>T (p.Glu411Val)
c.1382A>T (p.Glu461Val)
n.5966A>T
n.424A>T
c.554A>T (p.Glu185Val)
c.1385A>T (p.Glu462Val)
c.1376A>T (p.Glu459Val)
c.1346A>T (p.Glu449Val)
5g.139325538G>ACA446793632MATR3c.2247G>A (p.Glu749=)
c.2391G>A (p.Glu797=)
n.1700G>A
c.1233G>A (p.Glu411=)
c.1383G>A (p.Glu461=)
n.5967G>A
n.425G>A
c.555G>A (p.Glu185=)
c.1386G>A (p.Glu462=)
c.1377G>A (p.Glu459=)
c.1347G>A (p.Glu449=)
5g.139325538G>CCA361146323MATR3c.2247G>C (p.Glu749Asp)
c.2391G>C (p.Glu797Asp)
n.1700G>C
c.1233G>C (p.Glu411Asp)
c.1383G>C (p.Glu461Asp)
n.5967G>C
n.425G>C
c.555G>C (p.Glu185Asp)
c.1386G>C (p.Glu462Asp)
c.1377G>C (p.Glu459Asp)
c.1347G>C (p.Glu449Asp)
5g.139325538G>TCA361146325MATR3c.2247G>T (p.Glu749Asp)
c.2391G>T (p.Glu797Asp)
n.1700G>T
c.1233G>T (p.Glu411Asp)
c.1383G>T (p.Glu461Asp)
n.5967G>T
n.425G>T
c.555G>T (p.Glu185Asp)
c.1386G>T (p.Glu462Asp)
c.1377G>T (p.Glu459Asp)
c.1347G>T (p.Glu449Asp)
5g.139325539A>CCA361146327MATR3c.2248A>C (p.Asn750His)
c.2392A>C (p.Asn798His)
n.1701A>C
c.1234A>C (p.Asn412His)
c.1384A>C (p.Asn462His)
n.5968A>C
n.426A>C
c.556A>C (p.Asn186His)
c.1387A>C (p.Asn463His)
c.1378A>C (p.Asn460His)
c.1348A>C (p.Asn450His)
5g.139325539A>GCA361146329MATR3c.2248A>G (p.Asn750Asp)
c.2392A>G (p.Asn798Asp)
n.1701A>G
c.1234A>G (p.Asn412Asp)
c.1384A>G (p.Asn462Asp)
n.5968A>G
n.426A>G
c.556A>G (p.Asn186Asp)
c.1387A>G (p.Asn463Asp)
c.1378A>G (p.Asn460Asp)
c.1348A>G (p.Asn450Asp)
 gnomAD v4
5g.139325539A>TCA361146330MATR3c.2248A>T (p.Asn750Tyr)
c.2392A>T (p.Asn798Tyr)
n.1701A>T
c.1234A>T (p.Asn412Tyr)
c.1384A>T (p.Asn462Tyr)
n.5968A>T
n.426A>T
c.556A>T (p.Asn186Tyr)
c.1387A>T (p.Asn463Tyr)
c.1378A>T (p.Asn460Tyr)
c.1348A>T (p.Asn450Tyr)
5g.139325540A=CA1586265091MATR3c.2249A= (p.Asn750=)
c.2393A= (p.Asn798=)
n.1702A=
c.1235A= (p.Asn412=)
c.1385A= (p.Asn462=)
n.5969A=
n.427A=
c.557A= (p.Asn186=)
c.1388A= (p.Asn463=)
c.1379A= (p.Asn460=)
c.1349A= (p.Asn450=)
5g.139325540A>CCA361146333MATR3c.2249A>C (p.Asn750Thr)
c.2393A>C (p.Asn798Thr)
n.1702A>C
c.1235A>C (p.Asn412Thr)
c.1385A>C (p.Asn462Thr)
n.5969A>C
n.427A>C
c.557A>C (p.Asn186Thr)
c.1388A>C (p.Asn463Thr)
c.1379A>C (p.Asn460Thr)
c.1349A>C (p.Asn450Thr)
5g.139325540A>GCA361146335MATR3c.2249A>G (p.Asn750Ser)
c.2393A>G (p.Asn798Ser)
n.1702A>G
c.1235A>G (p.Asn412Ser)
c.1385A>G (p.Asn462Ser)
n.5969A>G
n.427A>G
c.557A>G (p.Asn186Ser)
c.1388A>G (p.Asn463Ser)
c.1379A>G (p.Asn460Ser)
c.1349A>G (p.Asn450Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139325540A>TCA361146336MATR3c.2249A>T (p.Asn750Ile)
c.2393A>T (p.Asn798Ile)
n.1702A>T
c.1235A>T (p.Asn412Ile)
c.1385A>T (p.Asn462Ile)
n.5969A>T
n.427A>T
c.557A>T (p.Asn186Ile)
c.1388A>T (p.Asn463Ile)
c.1379A>T (p.Asn460Ile)
c.1349A>T (p.Asn450Ile)
5g.139325541C>ACA3433399MATR3c.2250C>A (p.Asn750Lys)
c.2394C>A (p.Asn798Lys)
n.1703C>A
c.1236C>A (p.Asn412Lys)
c.1386C>A (p.Asn462Lys)
n.5970C>A
n.428C>A
c.558C>A (p.Asn186Lys)
c.1389C>A (p.Asn463Lys)
c.1380C>A (p.Asn460Lys)
c.1350C>A (p.Asn450Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139325541C=CA1586265093MATR3c.2250C= (p.Asn750=)
c.2394C= (p.Asn798=)
n.1703C=
c.1236C= (p.Asn412=)
c.1386C= (p.Asn462=)
n.5970C=
n.428C=
c.558C= (p.Asn186=)
c.1389C= (p.Asn463=)
c.1380C= (p.Asn460=)
c.1350C= (p.Asn450=)
5g.139325541C>GCA361146338MATR3c.2250C>G (p.Asn750Lys)
c.2394C>G (p.Asn798Lys)
n.1703C>G
c.1236C>G (p.Asn412Lys)
c.1386C>G (p.Asn462Lys)
n.5970C>G
n.428C>G
c.558C>G (p.Asn186Lys)
c.1389C>G (p.Asn463Lys)
c.1380C>G (p.Asn460Lys)
c.1350C>G (p.Asn450Lys)
5g.139325541C>TCA3433398MATR3c.2250C>T (p.Asn750=)
c.2394C>T (p.Asn798=)
n.1703C>T
c.1236C>T (p.Asn412=)
c.1386C>T (p.Asn462=)
n.5970C>T
n.428C>T
c.558C>T (p.Asn186=)
c.1389C>T (p.Asn463=)
c.1380C>T (p.Asn460=)
c.1350C>T (p.Asn450=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139325542G>ACA3433400MATR3c.2251G>A (p.Ala751Thr)
c.2395G>A (p.Ala799Thr)
n.1704G>A
c.1237G>A (p.Ala413Thr)
c.1387G>A (p.Ala463Thr)
n.5971G>A
n.429G>A
c.559G>A (p.Ala187Thr)
c.1390G>A (p.Ala464Thr)
c.1381G>A (p.Ala461Thr)
c.1351G>A (p.Ala451Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325542G>CCA361146344MATR3c.2251G>C (p.Ala751Pro)
c.2395G>C (p.Ala799Pro)
n.1704G>C
c.1237G>C (p.Ala413Pro)
c.1387G>C (p.Ala463Pro)
n.5971G>C
n.429G>C
c.559G>C (p.Ala187Pro)
c.1390G>C (p.Ala464Pro)
c.1381G>C (p.Ala461Pro)
c.1351G>C (p.Ala451Pro)
5g.139325542G=CA1586265098MATR3c.2251G= (p.Ala751=)
c.2395G= (p.Ala799=)
n.1704G=
c.1237G= (p.Ala413=)
c.1387G= (p.Ala463=)
n.5971G=
n.429G=
c.559G= (p.Ala187=)
c.1390G= (p.Ala464=)
c.1381G= (p.Ala461=)
c.1351G= (p.Ala451=)
5g.139325542G>TCA361146341MATR3c.2251G>T (p.Ala751Ser)
c.2395G>T (p.Ala799Ser)
n.1704G>T
c.1237G>T (p.Ala413Ser)
c.1387G>T (p.Ala463Ser)
n.5971G>T
n.429G>T
c.559G>T (p.Ala187Ser)
c.1390G>T (p.Ala464Ser)
c.1381G>T (p.Ala461Ser)
c.1351G>T (p.Ala451Ser)
5g.139325543C>ACA361146346MATR3c.2252C>A (p.Ala751Asp)
c.2396C>A (p.Ala799Asp)
n.1705C>A
c.1238C>A (p.Ala413Asp)
c.1388C>A (p.Ala463Asp)
n.5972C>A
n.430C>A
c.560C>A (p.Ala187Asp)
c.1391C>A (p.Ala464Asp)
c.1382C>A (p.Ala461Asp)
c.1352C>A (p.Ala451Asp)
5g.139325543C>GCA361146347MATR3c.2252C>G (p.Ala751Gly)
c.2396C>G (p.Ala799Gly)
n.1705C>G
c.1238C>G (p.Ala413Gly)
c.1388C>G (p.Ala463Gly)
n.5972C>G
n.430C>G
c.560C>G (p.Ala187Gly)
c.1391C>G (p.Ala464Gly)
c.1382C>G (p.Ala461Gly)
c.1352C>G (p.Ala451Gly)
5g.139325543C>TCA361146349MATR3c.2252C>T (p.Ala751Val)
c.2396C>T (p.Ala799Val)
n.1705C>T
c.1238C>T (p.Ala413Val)
c.1388C>T (p.Ala463Val)
n.5972C>T
n.430C>T
c.560C>T (p.Ala187Val)
c.1391C>T (p.Ala464Val)
c.1382C>T (p.Ala461Val)
c.1352C>T (p.Ala451Val)
5g.139325543_139325546delinsCTGACA1586265100MATR3c.2252_2255delinsCTGA (p.Ala751=)
c.2396_2399delinsCTGA (p.Ala799=)
n.1705_1708delinsCTGA
c.1238_1241delinsCTGA (p.Ala413=)
c.1388_1391delinsCTGA (p.Ala463=)
n.5972_5975delinsCTGA
n.430_433delinsCTGA
c.560_563delinsCTGA (p.Ala187=)
c.1391_1394delinsCTGA (p.Ala464=)
c.1382_1385delinsCTGA (p.Ala461=)
c.1352_1355delinsCTGA (p.Ala451=)
5g.139325544T>ACA446793640MATR3c.2253T>A (p.Ala751=)
c.2397T>A (p.Ala799=)
n.1706T>A
c.1239T>A (p.Ala413=)
c.1389T>A (p.Ala463=)
n.5973T>A
n.431T>A
c.561T>A (p.Ala187=)
c.1392T>A (p.Ala464=)
c.1383T>A (p.Ala461=)
c.1353T>A (p.Ala451=)
5g.139325544T>CCA446793642MATR3c.2253T>C (p.Ala751=)
c.2397T>C (p.Ala799=)
n.1706T>C
c.1239T>C (p.Ala413=)
c.1389T>C (p.Ala463=)
n.5973T>C
n.431T>C
c.561T>C (p.Ala187=)
c.1392T>C (p.Ala464=)
c.1383T>C (p.Ala461=)
c.1353T>C (p.Ala451=)
5g.139325544T>GCA446793643MATR3c.2253T>G (p.Ala751=)
c.2397T>G (p.Ala799=)
n.1706T>G
c.1239T>G (p.Ala413=)
c.1389T>G (p.Ala463=)
n.5973T>G
n.431T>G
c.561T>G (p.Ala187=)
c.1392T>G (p.Ala464=)
c.1383T>G (p.Ala461=)
c.1353T>G (p.Ala451=)
5g.139325548_139325550delCA128241063MATR3c.2257_2259del (p.Asp753del)
c.2401_2403del (p.Asp801del)
n.1710_1712del
c.1243_1245del (p.Asp415del)
c.1393_1395del (p.Asp465del)
n.5977_5979del
n.435_437del
c.565_567del (p.Asp189del)
c.1396_1398del (p.Asp466del)
c.1387_1389del (p.Asp463del)
c.1357_1359del (p.Asp453del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139325545G>ACA361146351MATR3c.2254G>A (p.Asp752Asn)
c.2398G>A (p.Asp800Asn)
n.1707G>A
c.1240G>A (p.Asp414Asn)
c.1390G>A (p.Asp464Asn)
n.5974G>A
n.432G>A
c.562G>A (p.Asp188Asn)
c.1393G>A (p.Asp465Asn)
c.1384G>A (p.Asp462Asn)
c.1354G>A (p.Asp452Asn)
5g.139325545G>CCA361146352MATR3c.2254G>C (p.Asp752His)
c.2398G>C (p.Asp800His)
n.1707G>C
c.1240G>C (p.Asp414His)
c.1390G>C (p.Asp464His)
n.5974G>C
n.432G>C
c.562G>C (p.Asp188His)
c.1393G>C (p.Asp465His)
c.1384G>C (p.Asp462His)
c.1354G>C (p.Asp452His)
5g.139325545G>TCA361146354MATR3c.2254G>T (p.Asp752Tyr)
c.2398G>T (p.Asp800Tyr)
n.1707G>T
c.1240G>T (p.Asp414Tyr)
c.1390G>T (p.Asp464Tyr)
n.5974G>T
n.432G>T
c.562G>T (p.Asp188Tyr)
c.1393G>T (p.Asp465Tyr)
c.1384G>T (p.Asp462Tyr)
c.1354G>T (p.Asp452Tyr)
 gnomAD v4
5g.139325546A>CCA361146359MATR3c.2255A>C (p.Asp752Ala)
c.2399A>C (p.Asp800Ala)
n.1708A>C
c.1241A>C (p.Asp414Ala)
c.1391A>C (p.Asp464Ala)
n.5975A>C
n.433A>C
c.563A>C (p.Asp188Ala)
c.1394A>C (p.Asp465Ala)
c.1385A>C (p.Asp462Ala)
c.1355A>C (p.Asp452Ala)
 gnomAD v4
5g.139325546A>GCA361146356MATR3c.2255A>G (p.Asp752Gly)
c.2399A>G (p.Asp800Gly)
n.1708A>G
c.1241A>G (p.Asp414Gly)
c.1391A>G (p.Asp464Gly)
n.5975A>G
n.433A>G
c.563A>G (p.Asp188Gly)
c.1394A>G (p.Asp465Gly)
c.1385A>G (p.Asp462Gly)
c.1355A>G (p.Asp452Gly)
5g.139325546A>TCA361146358MATR3c.2255A>T (p.Asp752Val)
c.2399A>T (p.Asp800Val)
n.1708A>T
c.1241A>T (p.Asp414Val)
c.1391A>T (p.Asp464Val)
n.5975A>T
n.433A>T
c.563A>T (p.Asp188Val)
c.1394A>T (p.Asp465Val)
c.1385A>T (p.Asp462Val)
c.1355A>T (p.Asp452Val)
5g.139325547T>ACA361146361MATR3c.2256T>A (p.Asp752Glu)
c.2400T>A (p.Asp800Glu)
n.1709T>A
c.1242T>A (p.Asp414Glu)
c.1392T>A (p.Asp464Glu)
n.5976T>A
n.434T>A
c.564T>A (p.Asp188Glu)
c.1395T>A (p.Asp465Glu)
c.1386T>A (p.Asp462Glu)
c.1356T>A (p.Asp452Glu)
5g.139325547T>CCA446793649MATR3c.2256T>C (p.Asp752=)
c.2400T>C (p.Asp800=)
n.1709T>C
c.1242T>C (p.Asp414=)
c.1392T>C (p.Asp464=)
n.5976T>C
n.434T>C
c.564T>C (p.Asp188=)
c.1395T>C (p.Asp465=)
c.1386T>C (p.Asp462=)
c.1356T>C (p.Asp452=)
5g.139325547T>GCA3433401MATR3c.2256T>G (p.Asp752Glu)
c.2400T>G (p.Asp800Glu)
n.1709T>G
c.1242T>G (p.Asp414Glu)
c.1392T>G (p.Asp464Glu)
n.5976T>G
n.434T>G
c.564T>G (p.Asp188Glu)
c.1395T>G (p.Asp465Glu)
c.1386T>G (p.Asp462Glu)
c.1356T>G (p.Asp452Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139325547T=CA1586265107MATR3c.2256T= (p.Asp752=)
c.2400T= (p.Asp800=)
n.1709T=
c.1242T= (p.Asp414=)
c.1392T= (p.Asp464=)
n.5976T=
n.434T=
c.564T= (p.Asp188=)
c.1395T= (p.Asp465=)
c.1386T= (p.Asp462=)
c.1356T= (p.Asp452=)
5g.139325548G>ACA361146364MATR3c.2257G>A (p.Asp753Asn)
c.2401G>A (p.Asp801Asn)
n.1710G>A
c.1243G>A (p.Asp415Asn)
c.1393G>A (p.Asp465Asn)
n.5977G>A
n.435G>A
c.565G>A (p.Asp189Asn)
c.1396G>A (p.Asp466Asn)
c.1387G>A (p.Asp463Asn)
c.1357G>A (p.Asp453Asn)
5g.139325548G>CCA361146366MATR3c.2257G>C (p.Asp753His)
c.2401G>C (p.Asp801His)
n.1710G>C
c.1243G>C (p.Asp415His)
c.1393G>C (p.Asp465His)
n.5977G>C
n.435G>C
c.565G>C (p.Asp189His)
c.1396G>C (p.Asp466His)
c.1387G>C (p.Asp463His)
c.1357G>C (p.Asp453His)
5g.139325548G>TCA361146367MATR3c.2257G>T (p.Asp753Tyr)
c.2401G>T (p.Asp801Tyr)
n.1710G>T
c.1243G>T (p.Asp415Tyr)
c.1393G>T (p.Asp465Tyr)
n.5977G>T
n.435G>T
c.565G>T (p.Asp189Tyr)
c.1396G>T (p.Asp466Tyr)
c.1387G>T (p.Asp463Tyr)
c.1357G>T (p.Asp453Tyr)
5g.139325549A>CCA361146369MATR3c.2258A>C (p.Asp753Ala)
c.2402A>C (p.Asp801Ala)
n.1711A>C
c.1244A>C (p.Asp415Ala)
c.1394A>C (p.Asp465Ala)
n.5978A>C
n.436A>C
c.566A>C (p.Asp189Ala)
c.1397A>C (p.Asp466Ala)
c.1388A>C (p.Asp463Ala)
c.1358A>C (p.Asp453Ala)
5g.139325549A>GCA361146372MATR3c.2258A>G (p.Asp753Gly)
c.2402A>G (p.Asp801Gly)
n.1711A>G
c.1244A>G (p.Asp415Gly)
c.1394A>G (p.Asp465Gly)
n.5978A>G
n.436A>G
c.566A>G (p.Asp189Gly)
c.1397A>G (p.Asp466Gly)
c.1388A>G (p.Asp463Gly)
c.1358A>G (p.Asp453Gly)
5g.139325549A>TCA361146371MATR3c.2258A>T (p.Asp753Val)
c.2402A>T (p.Asp801Val)
n.1711A>T
c.1244A>T (p.Asp415Val)
c.1394A>T (p.Asp465Val)
n.5978A>T
n.436A>T
c.566A>T (p.Asp189Val)
c.1397A>T (p.Asp466Val)
c.1388A>T (p.Asp463Val)
c.1358A>T (p.Asp453Val)
 gnomAD v4
5g.139325550T>ACA3433402MATR3c.2259T>A (p.Asp753Glu)
c.2403T>A (p.Asp801Glu)
n.1712T>A
c.1245T>A (p.Asp415Glu)
c.1395T>A (p.Asp465Glu)
n.5979T>A
n.437T>A
c.567T>A (p.Asp189Glu)
c.1398T>A (p.Asp466Glu)
c.1389T>A (p.Asp463Glu)
c.1359T>A (p.Asp453Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325550T>CCA446793654MATR3c.2259T>C (p.Asp753=)
c.2403T>C (p.Asp801=)
n.1712T>C
c.1245T>C (p.Asp415=)
c.1395T>C (p.Asp465=)
n.5979T>C
n.437T>C
c.567T>C (p.Asp189=)
c.1398T>C (p.Asp466=)
c.1389T>C (p.Asp463=)
c.1359T>C (p.Asp453=)
5g.139325550T>GCA361146375MATR3c.2259T>G (p.Asp753Glu)
c.2403T>G (p.Asp801Glu)
n.1712T>G
c.1245T>G (p.Asp415Glu)
c.1395T>G (p.Asp465Glu)
n.5979T>G
n.437T>G
c.567T>G (p.Asp189Glu)
c.1398T>G (p.Asp466Glu)
c.1389T>G (p.Asp463Glu)
c.1359T>G (p.Asp453Glu)
5g.139325550T=CA1586265109MATR3c.2259T= (p.Asp753=)
c.2403T= (p.Asp801=)
n.1712T=
c.1245T= (p.Asp415=)
c.1395T= (p.Asp465=)
n.5979T=
n.437T=
c.567T= (p.Asp189=)
c.1398T= (p.Asp466=)
c.1389T= (p.Asp463=)
c.1359T= (p.Asp453=)
5g.139325551C>ACA361146377MATR3c.2260C>A (p.Pro754Thr)
c.2404C>A (p.Pro802Thr)
n.1713C>A
c.1246C>A (p.Pro416Thr)
c.1396C>A (p.Pro466Thr)
n.5980C>A
n.438C>A
c.568C>A (p.Pro190Thr)
c.1399C>A (p.Pro467Thr)
c.1390C>A (p.Pro464Thr)
c.1360C>A (p.Pro454Thr)
5g.139325551C=CA1586265113MATR3c.2260C= (p.Pro754=)
c.2404C= (p.Pro802=)
n.1713C=
c.1246C= (p.Pro416=)
c.1396C= (p.Pro466=)
n.5980C=
n.438C=
c.568C= (p.Pro190=)
c.1399C= (p.Pro467=)
c.1390C= (p.Pro464=)
c.1360C= (p.Pro454=)
5g.139325551C>GCA361146379MATR3c.2260C>G (p.Pro754Ala)
c.2404C>G (p.Pro802Ala)
n.1713C>G
c.1246C>G (p.Pro416Ala)
c.1396C>G (p.Pro466Ala)
n.5980C>G
n.438C>G
c.568C>G (p.Pro190Ala)
c.1399C>G (p.Pro467Ala)
c.1390C>G (p.Pro464Ala)
c.1360C>G (p.Pro454Ala)
 dbSNP gnomAD v2
5g.139325551C>TCA361146381MATR3c.2260C>T (p.Pro754Ser)
c.2404C>T (p.Pro802Ser)
n.1713C>T
c.1246C>T (p.Pro416Ser)
c.1396C>T (p.Pro466Ser)
n.5980C>T
n.438C>T
c.568C>T (p.Pro190Ser)
c.1399C>T (p.Pro467Ser)
c.1390C>T (p.Pro464Ser)
c.1360C>T (p.Pro454Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.139325552C>ACA361146382MATR3c.2261C>A (p.Pro754His)
c.2405C>A (p.Pro802His)
n.1714C>A
c.1247C>A (p.Pro416His)
c.1397C>A (p.Pro466His)
n.5981C>A
n.439C>A
c.569C>A (p.Pro190His)
c.1400C>A (p.Pro467His)
c.1391C>A (p.Pro464His)
c.1361C>A (p.Pro454His)
5g.139325552C=CA1586265116MATR3c.2261C= (p.Pro754=)
c.2405C= (p.Pro802=)
n.1714C=
c.1247C= (p.Pro416=)
c.1397C= (p.Pro466=)
n.5981C=
n.439C=
c.569C= (p.Pro190=)
c.1400C= (p.Pro467=)
c.1391C= (p.Pro464=)
c.1361C= (p.Pro454=)
5g.139325552C>GCA361146384MATR3c.2261C>G (p.Pro754Arg)
c.2405C>G (p.Pro802Arg)
n.1714C>G
c.1247C>G (p.Pro416Arg)
c.1397C>G (p.Pro466Arg)
n.5981C>G
n.439C>G
c.569C>G (p.Pro190Arg)
c.1400C>G (p.Pro467Arg)
c.1391C>G (p.Pro464Arg)
c.1361C>G (p.Pro454Arg)
5g.139325552C>TCA361146386MATR3c.2261C>T (p.Pro754Leu)
c.2405C>T (p.Pro802Leu)
n.1714C>T
c.1247C>T (p.Pro416Leu)
c.1397C>T (p.Pro466Leu)
n.5981C>T
n.439C>T
c.569C>T (p.Pro190Leu)
c.1400C>T (p.Pro467Leu)
c.1391C>T (p.Pro464Leu)
c.1361C>T (p.Pro454Leu)
 dbSNP
5g.139325553C>ACA446793658MATR3c.2262C>A (p.Pro754=)
c.2406C>A (p.Pro802=)
n.1715C>A
c.1248C>A (p.Pro416=)
c.1398C>A (p.Pro466=)
n.5982C>A
n.440C>A
c.570C>A (p.Pro190=)
c.1401C>A (p.Pro467=)
c.1392C>A (p.Pro464=)
c.1362C>A (p.Pro454=)
5g.139325553C=CA1586265118MATR3c.2262C= (p.Pro754=)
c.2406C= (p.Pro802=)
n.1715C=
c.1248C= (p.Pro416=)
c.1398C= (p.Pro466=)
n.5982C=
n.440C=
c.570C= (p.Pro190=)
c.1401C= (p.Pro467=)
c.1392C= (p.Pro464=)
c.1362C= (p.Pro454=)
5g.139325553C>GCA446793660MATR3c.2262C>G (p.Pro754=)
c.2406C>G (p.Pro802=)
n.1715C>G
c.1248C>G (p.Pro416=)
c.1398C>G (p.Pro466=)
n.5982C>G
n.440C>G
c.570C>G (p.Pro190=)
c.1401C>G (p.Pro467=)
c.1392C>G (p.Pro464=)
c.1362C>G (p.Pro454=)
5g.139325553C>TCA3433403MATR3c.2262C>T (p.Pro754=)
c.2406C>T (p.Pro802=)
n.1715C>T
c.1248C>T (p.Pro416=)
c.1398C>T (p.Pro466=)
n.5982C>T
n.440C>T
c.570C>T (p.Pro190=)
c.1401C>T (p.Pro467=)
c.1392C>T (p.Pro464=)
c.1362C>T (p.Pro454=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139325554A=CA1586265121MATR3c.2263A= (p.Asn755=)
c.2407A= (p.Asn803=)
n.1716A=
c.1249A= (p.Asn417=)
c.1399A= (p.Asn467=)
n.5983A=
n.441A=
c.571A= (p.Asn191=)
c.1402A= (p.Asn468=)
c.1393A= (p.Asn465=)
c.1363A= (p.Asn455=)
5g.139325554A>CCA361146388MATR3c.2263A>C (p.Asn755His)
c.2407A>C (p.Asn803His)
n.1716A>C
c.1249A>C (p.Asn417His)
c.1399A>C (p.Asn467His)
n.5983A>C
n.441A>C
c.571A>C (p.Asn191His)
c.1402A>C (p.Asn468His)
c.1393A>C (p.Asn465His)
c.1363A>C (p.Asn455His)
5g.139325554A>GCA361146390MATR3c.2263A>G (p.Asn755Asp)
c.2407A>G (p.Asn803Asp)
n.1716A>G
c.1249A>G (p.Asn417Asp)
c.1399A>G (p.Asn467Asp)
n.5983A>G
n.441A>G
c.571A>G (p.Asn191Asp)
c.1402A>G (p.Asn468Asp)
c.1393A>G (p.Asn465Asp)
c.1363A>G (p.Asn455Asp)
 dbSNP
5g.139325554A>TCA361146392MATR3c.2263A>T (p.Asn755Tyr)
c.2407A>T (p.Asn803Tyr)
n.1716A>T
c.1249A>T (p.Asn417Tyr)
c.1399A>T (p.Asn467Tyr)
n.5983A>T
n.441A>T
c.571A>T (p.Asn191Tyr)
c.1402A>T (p.Asn468Tyr)
c.1393A>T (p.Asn465Tyr)
c.1363A>T (p.Asn455Tyr)
5g.139325555A=CA1586265123MATR3c.2264A= (p.Asn755=)
c.2408A= (p.Asn803=)
n.1717A=
c.1250A= (p.Asn417=)
c.1400A= (p.Asn467=)
n.5984A=
n.442A=
c.572A= (p.Asn191=)
c.1403A= (p.Asn468=)
c.1394A= (p.Asn465=)
c.1364A= (p.Asn455=)
5g.139325555A>CCA361146397MATR3c.2264A>C (p.Asn755Thr)
c.2408A>C (p.Asn803Thr)
n.1717A>C
c.1250A>C (p.Asn417Thr)
c.1400A>C (p.Asn467Thr)
n.5984A>C
n.442A>C
c.572A>C (p.Asn191Thr)
c.1403A>C (p.Asn468Thr)
c.1394A>C (p.Asn465Thr)
c.1364A>C (p.Asn455Thr)
5g.139325555A>GCA3433404MATR3c.2264A>G (p.Asn755Ser)
c.2408A>G (p.Asn803Ser)
n.1717A>G
c.1250A>G (p.Asn417Ser)
c.1400A>G (p.Asn467Ser)
n.5984A>G
n.442A>G
c.572A>G (p.Asn191Ser)
c.1403A>G (p.Asn468Ser)
c.1394A>G (p.Asn465Ser)
c.1364A>G (p.Asn455Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325555A>TCA361146394MATR3c.2264A>T (p.Asn755Ile)
c.2408A>T (p.Asn803Ile)
n.1717A>T
c.1250A>T (p.Asn417Ile)
c.1400A>T (p.Asn467Ile)
n.5984A>T
n.442A>T
c.572A>T (p.Asn191Ile)
c.1403A>T (p.Asn468Ile)
c.1394A>T (p.Asn465Ile)
c.1364A>T (p.Asn455Ile)
5g.139325556C>ACA361146399MATR3c.2265C>A (p.Asn755Lys)
c.2409C>A (p.Asn803Lys)
n.1718C>A
c.1251C>A (p.Asn417Lys)
c.1401C>A (p.Asn467Lys)
n.5985C>A
n.443C>A
c.573C>A (p.Asn191Lys)
c.1404C>A (p.Asn468Lys)
c.1395C>A (p.Asn465Lys)
c.1365C>A (p.Asn455Lys)
5g.139325556C=CA1586265126MATR3c.2265C= (p.Asn755=)
c.2409C= (p.Asn803=)
n.1718C=
c.1251C= (p.Asn417=)
c.1401C= (p.Asn467=)
n.5985C=
n.443C=
c.573C= (p.Asn191=)
c.1404C= (p.Asn468=)
c.1395C= (p.Asn465=)
c.1365C= (p.Asn455=)
5g.139325556C>GCA361146400MATR3c.2265C>G (p.Asn755Lys)
c.2409C>G (p.Asn803Lys)
n.1718C>G
c.1251C>G (p.Asn417Lys)
c.1401C>G (p.Asn467Lys)
n.5985C>G
n.443C>G
c.573C>G (p.Asn191Lys)
c.1404C>G (p.Asn468Lys)
c.1395C>G (p.Asn465Lys)
c.1365C>G (p.Asn455Lys)
 gnomAD v4
5g.139325556C>TCA446793661MATR3c.2265C>T (p.Asn755=)
c.2409C>T (p.Asn803=)
n.1718C>T
c.1251C>T (p.Asn417=)
c.1401C>T (p.Asn467=)
n.5985C>T
n.443C>T
c.573C>T (p.Asn191=)
c.1404C>T (p.Asn468=)
c.1395C>T (p.Asn465=)
c.1365C>T (p.Asn455=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139325557A>CCA361146403MATR3c.2266A>C (p.Lys756Gln)
c.2410A>C (p.Lys804Gln)
n.1719A>C
c.1252A>C (p.Lys418Gln)
c.1402A>C (p.Lys468Gln)
n.5986A>C
n.444A>C
c.574A>C (p.Lys192Gln)
c.1405A>C (p.Lys469Gln)
c.1396A>C (p.Lys466Gln)
c.1366A>C (p.Lys456Gln)
5g.139325557A>GCA361146404MATR3c.2266A>G (p.Lys756Glu)
c.2410A>G (p.Lys804Glu)
n.1719A>G
c.1252A>G (p.Lys418Glu)
c.1402A>G (p.Lys468Glu)
n.5986A>G
n.444A>G
c.574A>G (p.Lys192Glu)
c.1405A>G (p.Lys469Glu)
c.1396A>G (p.Lys466Glu)
c.1366A>G (p.Lys456Glu)
 gnomAD v4
5g.139325557A>TCA361146406MATR3c.2266A>T (p.Lys756Ter)
c.2410A>T (p.Lys804Ter)
n.1719A>T
c.1252A>T (p.Lys418Ter)
c.1402A>T (p.Lys468Ter)
n.5986A>T
n.444A>T
c.574A>T (p.Lys192Ter)
c.1405A>T (p.Lys469Ter)
c.1396A>T (p.Lys466Ter)
c.1366A>T (p.Lys456Ter)
5g.139325558A>CCA361146408MATR3c.2267A>C (p.Lys756Thr)
c.2411A>C (p.Lys804Thr)
n.1720A>C
c.1253A>C (p.Lys418Thr)
c.1403A>C (p.Lys468Thr)
n.5987A>C
n.445A>C
c.575A>C (p.Lys192Thr)
c.1406A>C (p.Lys469Thr)
c.1397A>C (p.Lys466Thr)
c.1367A>C (p.Lys456Thr)
5g.139325558A>GCA361146409MATR3c.2267A>G (p.Lys756Arg)
c.2411A>G (p.Lys804Arg)
n.1720A>G
c.1253A>G (p.Lys418Arg)
c.1403A>G (p.Lys468Arg)
n.5987A>G
n.445A>G
c.575A>G (p.Lys192Arg)
c.1406A>G (p.Lys469Arg)
c.1397A>G (p.Lys466Arg)
c.1367A>G (p.Lys456Arg)
 gnomAD v4
5g.139325558A>TCA361146411MATR3c.2267A>T (p.Lys756Ile)
c.2411A>T (p.Lys804Ile)
n.1720A>T
c.1253A>T (p.Lys418Ile)
c.1403A>T (p.Lys468Ile)
n.5987A>T
n.445A>T
c.575A>T (p.Lys192Ile)
c.1406A>T (p.Lys469Ile)
c.1397A>T (p.Lys466Ile)
c.1367A>T (p.Lys456Ile)
5g.139325559A>CCA361146413MATR3c.2268A>C (p.Lys756Asn)
c.2412A>C (p.Lys804Asn)
n.1721A>C
c.1254A>C (p.Lys418Asn)
c.1404A>C (p.Lys468Asn)
n.5988A>C
n.446A>C
c.576A>C (p.Lys192Asn)
c.1407A>C (p.Lys469Asn)
c.1398A>C (p.Lys466Asn)
c.1368A>C (p.Lys456Asn)
5g.139325559A>GCA446793662MATR3c.2268A>G (p.Lys756=)
c.2412A>G (p.Lys804=)
n.1721A>G
c.1254A>G (p.Lys418=)
c.1404A>G (p.Lys468=)
n.5988A>G
n.446A>G
c.576A>G (p.Lys192=)
c.1407A>G (p.Lys469=)
c.1398A>G (p.Lys466=)
c.1368A>G (p.Lys456=)
5g.139325559A>TCA361146412MATR3c.2268A>T (p.Lys756Asn)
c.2412A>T (p.Lys804Asn)
n.1721A>T
c.1254A>T (p.Lys418Asn)
c.1404A>T (p.Lys468Asn)
n.5988A>T
n.446A>T
c.576A>T (p.Lys192Asn)
c.1407A>T (p.Lys469Asn)
c.1398A>T (p.Lys466Asn)
c.1368A>T (p.Lys456Asn)
5g.139325560G>ACA361146415MATR3c.2269G>A (p.Asp757Asn)
c.2413G>A (p.Asp805Asn)
n.1722G>A
c.1255G>A (p.Asp419Asn)
c.1405G>A (p.Asp469Asn)
n.5989G>A
n.447G>A
c.577G>A (p.Asp193Asn)
c.1408G>A (p.Asp470Asn)
c.1399G>A (p.Asp467Asn)
c.1369G>A (p.Asp457Asn)
5g.139325560G>CCA361146417MATR3c.2269G>C (p.Asp757His)
c.2413G>C (p.Asp805His)
n.1722G>C
c.1255G>C (p.Asp419His)
c.1405G>C (p.Asp469His)
n.5989G>C
n.447G>C
c.577G>C (p.Asp193His)
c.1408G>C (p.Asp470His)
c.1399G>C (p.Asp467His)
c.1369G>C (p.Asp457His)
5g.139325560G>TCA361146418MATR3c.2269G>T (p.Asp757Tyr)
c.2413G>T (p.Asp805Tyr)
n.1722G>T
c.1255G>T (p.Asp419Tyr)
c.1405G>T (p.Asp469Tyr)
n.5989G>T
n.447G>T
c.577G>T (p.Asp193Tyr)
c.1408G>T (p.Asp470Tyr)
c.1399G>T (p.Asp467Tyr)
c.1369G>T (p.Asp457Tyr)
5g.139325561A=CA1586265131MATR3c.2270A= (p.Asp757=)
c.2414A= (p.Asp805=)
n.1723A=
c.1256A= (p.Asp419=)
c.1406A= (p.Asp469=)
n.5990A=
n.448A=
c.578A= (p.Asp193=)
c.1409A= (p.Asp470=)
c.1400A= (p.Asp467=)
c.1370A= (p.Asp457=)
5g.139325561A>CCA361146420MATR3c.2270A>C (p.Asp757Ala)
c.2414A>C (p.Asp805Ala)
n.1723A>C
c.1256A>C (p.Asp419Ala)
c.1406A>C (p.Asp469Ala)
n.5990A>C
n.448A>C
c.578A>C (p.Asp193Ala)
c.1409A>C (p.Asp470Ala)
c.1400A>C (p.Asp467Ala)
c.1370A>C (p.Asp457Ala)
5g.139325561A>GCA3433405MATR3c.2270A>G (p.Asp757Gly)
c.2414A>G (p.Asp805Gly)
n.1723A>G
c.1256A>G (p.Asp419Gly)
c.1406A>G (p.Asp469Gly)
n.5990A>G
n.448A>G
c.578A>G (p.Asp193Gly)
c.1409A>G (p.Asp470Gly)
c.1400A>G (p.Asp467Gly)
c.1370A>G (p.Asp457Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139325561A>TCA361146422MATR3c.2270A>T (p.Asp757Val)
c.2414A>T (p.Asp805Val)
n.1723A>T
c.1256A>T (p.Asp419Val)
c.1406A>T (p.Asp469Val)
n.5990A>T
n.448A>T
c.578A>T (p.Asp193Val)
c.1409A>T (p.Asp470Val)
c.1400A>T (p.Asp467Val)
c.1370A>T (p.Asp457Val)
5g.139325562T>ACA361146424MATR3c.2271T>A (p.Asp757Glu)
c.2415T>A (p.Asp805Glu)
n.1724T>A
c.1257T>A (p.Asp419Glu)
c.1407T>A (p.Asp469Glu)
n.5991T>A
n.449T>A
c.579T>A (p.Asp193Glu)
c.1410T>A (p.Asp470Glu)
c.1401T>A (p.Asp467Glu)
c.1371T>A (p.Asp457Glu)
5g.139325562T>CCA3433406MATR3c.2271T>C (p.Asp757=)
c.2415T>C (p.Asp805=)
n.1724T>C
c.1257T>C (p.Asp419=)
c.1407T>C (p.Asp469=)
n.5991T>C
n.449T>C
c.579T>C (p.Asp193=)
c.1410T>C (p.Asp470=)
c.1401T>C (p.Asp467=)
c.1371T>C (p.Asp457=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325562T>GCA361146426MATR3c.2271T>G (p.Asp757Glu)
c.2415T>G (p.Asp805Glu)
n.1724T>G
c.1257T>G (p.Asp419Glu)
c.1407T>G (p.Asp469Glu)
n.5991T>G
n.449T>G
c.579T>G (p.Asp193Glu)
c.1410T>G (p.Asp470Glu)
c.1401T>G (p.Asp467Glu)
c.1371T>G (p.Asp457Glu)
5g.139325562T=CA1586265135MATR3c.2271T= (p.Asp757=)
c.2415T= (p.Asp805=)
n.1724T=
c.1257T= (p.Asp419=)
c.1407T= (p.Asp469=)
n.5991T=
n.449T=
c.579T= (p.Asp193=)
c.1410T= (p.Asp470=)
c.1401T= (p.Asp467=)
c.1371T= (p.Asp457=)
5g.139325563A=CA1586265143MATR3c.2272A= (p.Thr758=)
c.2416A= (p.Thr806=)
n.1725A=
c.1258A= (p.Thr420=)
c.1408A= (p.Thr470=)
n.5992A=
n.450A=
c.580A= (p.Thr194=)
c.1411A= (p.Thr471=)
c.1402A= (p.Thr468=)
c.1372A= (p.Thr458=)
5g.139325563A>CCA361146428MATR3c.2272A>C (p.Thr758Pro)
c.2416A>C (p.Thr806Pro)
n.1725A>C
c.1258A>C (p.Thr420Pro)
c.1408A>C (p.Thr470Pro)
n.5992A>C
n.450A>C
c.580A>C (p.Thr194Pro)
c.1411A>C (p.Thr471Pro)
c.1402A>C (p.Thr468Pro)
c.1372A>C (p.Thr458Pro)
5g.139325563A>GCA361146430MATR3c.2272A>G (p.Thr758Ala)
c.2416A>G (p.Thr806Ala)
n.1725A>G
c.1258A>G (p.Thr420Ala)
c.1408A>G (p.Thr470Ala)
n.5992A>G
n.450A>G
c.580A>G (p.Thr194Ala)
c.1411A>G (p.Thr471Ala)
c.1402A>G (p.Thr468Ala)
c.1372A>G (p.Thr458Ala)
 dbSNP
5g.139325563A>TCA361146432MATR3c.2272A>T (p.Thr758Ser)
c.2416A>T (p.Thr806Ser)
n.1725A>T
c.1258A>T (p.Thr420Ser)
c.1408A>T (p.Thr470Ser)
n.5992A>T
n.450A>T
c.580A>T (p.Thr194Ser)
c.1411A>T (p.Thr471Ser)
c.1402A>T (p.Thr468Ser)
c.1372A>T (p.Thr458Ser)
5g.139325564C>ACA3433407MATR3c.2273C>A (p.Thr758Lys)
c.2417C>A (p.Thr806Lys)
n.1726C>A
c.1259C>A (p.Thr420Lys)
c.1409C>A (p.Thr470Lys)
n.5993C>A
n.451C>A
c.581C>A (p.Thr194Lys)
c.1412C>A (p.Thr471Lys)
c.1403C>A (p.Thr468Lys)
c.1373C>A (p.Thr458Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325564C=CA1586265150MATR3c.2273C= (p.Thr758=)
c.2417C= (p.Thr806=)
n.1726C=
c.1259C= (p.Thr420=)
c.1409C= (p.Thr470=)
n.5993C=
n.451C=
c.581C= (p.Thr194=)
c.1412C= (p.Thr471=)
c.1403C= (p.Thr468=)
c.1373C= (p.Thr458=)
5g.139325564C>GCA3433408MATR3c.2273C>G (p.Thr758Arg)
c.2417C>G (p.Thr806Arg)
n.1726C>G
c.1259C>G (p.Thr420Arg)
c.1409C>G (p.Thr470Arg)
n.5993C>G
n.451C>G
c.581C>G (p.Thr194Arg)
c.1412C>G (p.Thr471Arg)
c.1403C>G (p.Thr468Arg)
c.1373C>G (p.Thr458Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139325564C>TCA361146435MATR3c.2273C>T (p.Thr758Ile)
c.2417C>T (p.Thr806Ile)
n.1726C>T
c.1259C>T (p.Thr420Ile)
c.1409C>T (p.Thr470Ile)
n.5993C>T
n.451C>T
c.581C>T (p.Thr194Ile)
c.1412C>T (p.Thr471Ile)
c.1403C>T (p.Thr468Ile)
c.1373C>T (p.Thr458Ile)
 dbSNP
5g.139325565A=CA1586265160MATR3c.2274A= (p.Thr758=)
c.2418A= (p.Thr806=)
n.1727A=
c.1260A= (p.Thr420=)
c.1410A= (p.Thr470=)
n.5994A=
n.452A=
c.582A= (p.Thr194=)
c.1413A= (p.Thr471=)
c.1404A= (p.Thr468=)
c.1374A= (p.Thr458=)
5g.139325565A>CCA446793667MATR3c.2274A>C (p.Thr758=)
c.2418A>C (p.Thr806=)
n.1727A>C
c.1260A>C (p.Thr420=)
c.1410A>C (p.Thr470=)
n.5994A>C
n.452A>C
c.582A>C (p.Thr194=)
c.1413A>C (p.Thr471=)
c.1404A>C (p.Thr468=)
c.1374A>C (p.Thr458=)
5g.139325565A>GCA3433409MATR3c.2274A>G (p.Thr758=)
c.2418A>G (p.Thr806=)
n.1727A>G
c.1260A>G (p.Thr420=)
c.1410A>G (p.Thr470=)
n.5994A>G
n.452A>G
c.582A>G (p.Thr194=)
c.1413A>G (p.Thr471=)
c.1404A>G (p.Thr468=)
c.1374A>G (p.Thr458=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325565A>TCA446793669MATR3c.2274A>T (p.Thr758=)
c.2418A>T (p.Thr806=)
n.1727A>T
c.1260A>T (p.Thr420=)
c.1410A>T (p.Thr470=)
n.5994A>T
n.452A>T
c.582A>T (p.Thr194=)
c.1413A>T (p.Thr471=)
c.1404A>T (p.Thr468=)
c.1374A>T (p.Thr458=)
5g.139325566A=CA1586265165MATR3c.2275A= (p.Ser759=)
c.2419A= (p.Ser807=)
n.1728A=
c.1261A= (p.Ser421=)
c.1411A= (p.Ser471=)
n.5995A=
n.453A=
c.583A= (p.Ser195=)
c.1414A= (p.Ser472=)
c.1405A= (p.Ser469=)
c.1375A= (p.Ser459=)
5g.139325566A>CCA361146438MATR3c.2275A>C (p.Ser759Arg)
c.2419A>C (p.Ser807Arg)
n.1728A>C
c.1261A>C (p.Ser421Arg)
c.1411A>C (p.Ser471Arg)
n.5995A>C
n.453A>C
c.583A>C (p.Ser195Arg)
c.1414A>C (p.Ser472Arg)
c.1405A>C (p.Ser469Arg)
c.1375A>C (p.Ser459Arg)
5g.139325566A>GCA361146439MATR3c.2275A>G (p.Ser759Gly)
c.2419A>G (p.Ser807Gly)
n.1728A>G
c.1261A>G (p.Ser421Gly)
c.1411A>G (p.Ser471Gly)
n.5995A>G
n.453A>G
c.583A>G (p.Ser195Gly)
c.1414A>G (p.Ser472Gly)
c.1405A>G (p.Ser469Gly)
c.1375A>G (p.Ser459Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.139325566A>TCA361146441MATR3c.2275A>T (p.Ser759Cys)
c.2419A>T (p.Ser807Cys)
n.1728A>T
c.1261A>T (p.Ser421Cys)
c.1411A>T (p.Ser471Cys)
n.5995A>T
n.453A>T
c.583A>T (p.Ser195Cys)
c.1414A>T (p.Ser472Cys)
c.1405A>T (p.Ser469Cys)
c.1375A>T (p.Ser459Cys)
5g.139325567G>ACA361146446MATR3c.2276G>A (p.Ser759Asn)
c.2420G>A (p.Ser807Asn)
n.1729G>A
c.1262G>A (p.Ser421Asn)
c.1412G>A (p.Ser471Asn)
n.5996G>A
n.454G>A
c.584G>A (p.Ser195Asn)
c.1415G>A (p.Ser472Asn)
c.1406G>A (p.Ser469Asn)
c.1376G>A (p.Ser459Asn)
5g.139325567G>CCA361146445MATR3c.2276G>C (p.Ser759Thr)
c.2420G>C (p.Ser807Thr)
n.1729G>C
c.1262G>C (p.Ser421Thr)
c.1412G>C (p.Ser471Thr)
n.5996G>C
n.454G>C
c.584G>C (p.Ser195Thr)
c.1415G>C (p.Ser472Thr)
c.1406G>C (p.Ser469Thr)
c.1376G>C (p.Ser459Thr)
 dbSNP gnomAD v3 gnomAD v4
5g.139325567G=CA1586265169MATR3c.2276G= (p.Ser759=)
c.2420G= (p.Ser807=)
n.1729G=
c.1262G= (p.Ser421=)
c.1412G= (p.Ser471=)
n.5996G=
n.454G=
c.584G= (p.Ser195=)
c.1415G= (p.Ser472=)
c.1406G= (p.Ser469=)
c.1376G= (p.Ser459=)
5g.139325567G>TCA361146443MATR3c.2276G>T (p.Ser759Ile)
c.2420G>T (p.Ser807Ile)
n.1729G>T
c.1262G>T (p.Ser421Ile)
c.1412G>T (p.Ser471Ile)
n.5996G>T
n.454G>T
c.584G>T (p.Ser195Ile)
c.1415G>T (p.Ser472Ile)
c.1406G>T (p.Ser469Ile)
c.1376G>T (p.Ser459Ile)
5g.139325568T>ACA361146448MATR3c.2277T>A (p.Ser759Arg)
c.2421T>A (p.Ser807Arg)
n.1730T>A
c.1263T>A (p.Ser421Arg)
c.1413T>A (p.Ser471Arg)
n.5997T>A
n.455T>A
c.585T>A (p.Ser195Arg)
c.1416T>A (p.Ser472Arg)
c.1407T>A (p.Ser469Arg)
c.1377T>A (p.Ser459Arg)
5g.139325568T>CCA446793670MATR3c.2277T>C (p.Ser759=)
c.2421T>C (p.Ser807=)
n.1730T>C
c.1263T>C (p.Ser421=)
c.1413T>C (p.Ser471=)
n.5997T>C
n.455T>C
c.585T>C (p.Ser195=)
c.1416T>C (p.Ser472=)
c.1407T>C (p.Ser469=)
c.1377T>C (p.Ser459=)
5g.139325568T>GCA361146450MATR3c.2277T>G (p.Ser759Arg)
c.2421T>G (p.Ser807Arg)
n.1730T>G
c.1263T>G (p.Ser421Arg)
c.1413T>G (p.Ser471Arg)
n.5997T>G
n.455T>G
c.585T>G (p.Ser195Arg)
c.1416T>G (p.Ser472Arg)
c.1407T>G (p.Ser469Arg)
c.1377T>G (p.Ser459Arg)
5g.139325569G>ACA361146452MATR3c.2278G>A (p.Glu760Lys)
c.2422G>A (p.Glu808Lys)
n.1731G>A
c.1264G>A (p.Glu422Lys)
c.1414G>A (p.Glu472Lys)
n.5998G>A
n.456G>A
c.586G>A (p.Glu196Lys)
c.1417G>A (p.Glu473Lys)
c.1408G>A (p.Glu470Lys)
c.1378G>A (p.Glu460Lys)
5g.139325569G>CCA361146453MATR3c.2278G>C (p.Glu760Gln)
c.2422G>C (p.Glu808Gln)
n.1731G>C
c.1264G>C (p.Glu422Gln)
c.1414G>C (p.Glu472Gln)
n.5998G>C
n.456G>C
c.586G>C (p.Glu196Gln)
c.1417G>C (p.Glu473Gln)
c.1408G>C (p.Glu470Gln)
c.1378G>C (p.Glu460Gln)
5g.139325569G>TCA361146455MATR3c.2278G>T (p.Glu760Ter)
c.2422G>T (p.Glu808Ter)
n.1731G>T
c.1264G>T (p.Glu422Ter)
c.1414G>T (p.Glu472Ter)
n.5998G>T
n.456G>T
c.586G>T (p.Glu196Ter)
c.1417G>T (p.Glu473Ter)
c.1408G>T (p.Glu470Ter)
c.1378G>T (p.Glu460Ter)
5g.139325570A>CCA361146457MATR3c.2279A>C (p.Glu760Ala)
c.2423A>C (p.Glu808Ala)
n.1732A>C
c.1265A>C (p.Glu422Ala)
c.1415A>C (p.Glu472Ala)
n.5999A>C
n.457A>C
c.587A>C (p.Glu196Ala)
c.1418A>C (p.Glu473Ala)
c.1409A>C (p.Glu470Ala)
c.1379A>C (p.Glu460Ala)
5g.139325570A>GCA361146459MATR3c.2279A>G (p.Glu760Gly)
c.2423A>G (p.Glu808Gly)
n.1732A>G
c.1265A>G (p.Glu422Gly)
c.1415A>G (p.Glu472Gly)
n.5999A>G
n.457A>G
c.587A>G (p.Glu196Gly)
c.1418A>G (p.Glu473Gly)
c.1409A>G (p.Glu470Gly)
c.1379A>G (p.Glu460Gly)
 ClinVar gnomAD v4
5g.139325570A>TCA361146460MATR3c.2279A>T (p.Glu760Val)
c.2423A>T (p.Glu808Val)
n.1732A>T
c.1265A>T (p.Glu422Val)
c.1415A>T (p.Glu472Val)
n.5999A>T
n.457A>T
c.587A>T (p.Glu196Val)
c.1418A>T (p.Glu473Val)
c.1409A>T (p.Glu470Val)
c.1379A>T (p.Glu460Val)
5g.139325571A>CCA361146462MATR3c.2280A>C (p.Glu760Asp)
c.2424A>C (p.Glu808Asp)
n.1733A>C
c.1266A>C (p.Glu422Asp)
c.1416A>C (p.Glu472Asp)
n.6000A>C
n.458A>C
c.588A>C (p.Glu196Asp)
c.1419A>C (p.Glu473Asp)
c.1410A>C (p.Glu470Asp)
c.1380A>C (p.Glu460Asp)
5g.139325571A>GCA446793673MATR3c.2280A>G (p.Glu760=)
c.2424A>G (p.Glu808=)
n.1733A>G
c.1266A>G (p.Glu422=)
c.1416A>G (p.Glu472=)
n.6000A>G
n.458A>G
c.588A>G (p.Glu196=)
c.1419A>G (p.Glu473=)
c.1410A>G (p.Glu470=)
c.1380A>G (p.Glu460=)
5g.139325571A>TCA361146464MATR3c.2280A>T (p.Glu760Asp)
c.2424A>T (p.Glu808Asp)
n.1733A>T
c.1266A>T (p.Glu422Asp)
c.1416A>T (p.Glu472Asp)
n.6000A>T
n.458A>T
c.588A>T (p.Glu196Asp)
c.1419A>T (p.Glu473Asp)
c.1410A>T (p.Glu470Asp)
c.1380A>T (p.Glu460Asp)
5g.139325572A>CCA361146466MATR3c.2281A>C (p.Asn761His)
c.2425A>C (p.Asn809His)
n.1734A>C
c.1267A>C (p.Asn423His)
c.1417A>C (p.Asn473His)
n.6001A>C
n.459A>C
c.589A>C (p.Asn197His)
c.1420A>C (p.Asn474His)
c.1411A>C (p.Asn471His)
c.1381A>C (p.Asn461His)
5g.139325572A>GCA361146467MATR3c.2281A>G (p.Asn761Asp)
c.2425A>G (p.Asn809Asp)
n.1734A>G
c.1267A>G (p.Asn423Asp)
c.1417A>G (p.Asn473Asp)
n.6001A>G
n.459A>G
c.589A>G (p.Asn197Asp)
c.1420A>G (p.Asn474Asp)
c.1411A>G (p.Asn471Asp)
c.1381A>G (p.Asn461Asp)
 gnomAD v4
5g.139325572A>TCA361146468MATR3c.2281A>T (p.Asn761Tyr)
c.2425A>T (p.Asn809Tyr)
n.1734A>T
c.1267A>T (p.Asn423Tyr)
c.1417A>T (p.Asn473Tyr)
n.6001A>T
n.459A>T
c.589A>T (p.Asn197Tyr)
c.1420A>T (p.Asn474Tyr)
c.1411A>T (p.Asn471Tyr)
c.1381A>T (p.Asn461Tyr)
5g.139325573A=CA1586265175MATR3c.2282A= (p.Asn761=)
c.2426A= (p.Asn809=)
n.1735A=
c.1268A= (p.Asn423=)
c.1418A= (p.Asn473=)
n.6002A=
n.460A=
c.590A= (p.Asn197=)
c.1421A= (p.Asn474=)
c.1412A= (p.Asn471=)
c.1382A= (p.Asn461=)
5g.139325573A>CCA361146472MATR3c.2282A>C (p.Asn761Thr)
c.2426A>C (p.Asn809Thr)
n.1735A>C
c.1268A>C (p.Asn423Thr)
c.1418A>C (p.Asn473Thr)
n.6002A>C
n.460A>C
c.590A>C (p.Asn197Thr)
c.1421A>C (p.Asn474Thr)
c.1412A>C (p.Asn471Thr)
c.1382A>C (p.Asn461Thr)
5g.139325573A>GCA3433410MATR3c.2282A>G (p.Asn761Ser)
c.2426A>G (p.Asn809Ser)
n.1735A>G
c.1268A>G (p.Asn423Ser)
c.1418A>G (p.Asn473Ser)
n.6002A>G
n.460A>G
c.590A>G (p.Asn197Ser)
c.1421A>G (p.Asn474Ser)
c.1412A>G (p.Asn471Ser)
c.1382A>G (p.Asn461Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325573A>TCA361146471MATR3c.2282A>T (p.Asn761Ile)
c.2426A>T (p.Asn809Ile)
n.1735A>T
c.1268A>T (p.Asn423Ile)
c.1418A>T (p.Asn473Ile)
n.6002A>T
n.460A>T
c.590A>T (p.Asn197Ile)
c.1421A>T (p.Asn474Ile)
c.1412A>T (p.Asn471Ile)
c.1382A>T (p.Asn461Ile)
5g.139325574C>ACA361146474MATR3c.2283C>A (p.Asn761Lys)
c.2427C>A (p.Asn809Lys)
n.1736C>A
c.1269C>A (p.Asn423Lys)
c.1419C>A (p.Asn473Lys)
n.6003C>A
n.461C>A
c.591C>A (p.Asn197Lys)
c.1422C>A (p.Asn474Lys)
c.1413C>A (p.Asn471Lys)
c.1383C>A (p.Asn461Lys)
5g.139325574C=CA1586265181MATR3c.2283C= (p.Asn761=)
c.2427C= (p.Asn809=)
n.1736C=
c.1269C= (p.Asn423=)
c.1419C= (p.Asn473=)
n.6003C=
n.461C=
c.591C= (p.Asn197=)
c.1422C= (p.Asn474=)
c.1413C= (p.Asn471=)
c.1383C= (p.Asn461=)
5g.139325574C>GCA361146476MATR3c.2283C>G (p.Asn761Lys)
c.2427C>G (p.Asn809Lys)
n.1736C>G
c.1269C>G (p.Asn423Lys)
c.1419C>G (p.Asn473Lys)
n.6003C>G
n.461C>G
c.591C>G (p.Asn197Lys)
c.1422C>G (p.Asn474Lys)
c.1413C>G (p.Asn471Lys)
c.1383C>G (p.Asn461Lys)
5g.139325574C>TCA3433411MATR3c.2283C>T (p.Asn761=)
c.2427C>T (p.Asn809=)
n.1736C>T
c.1269C>T (p.Asn423=)
c.1419C>T (p.Asn473=)
n.6003C>T
n.461C>T
c.591C>T (p.Asn197=)
c.1422C>T (p.Asn474=)
c.1413C>T (p.Asn471=)
c.1383C>T (p.Asn461=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325575G>ACA3433412MATR3c.2284G>A (p.Ala762Thr)
c.2428G>A (p.Ala810Thr)
n.1737G>A
c.1270G>A (p.Ala424Thr)
c.1420G>A (p.Ala474Thr)
n.6004G>A
n.462G>A
c.592G>A (p.Ala198Thr)
c.1423G>A (p.Ala475Thr)
c.1414G>A (p.Ala472Thr)
c.1384G>A (p.Ala462Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325575G>CCA361146479MATR3c.2284G>C (p.Ala762Pro)
c.2428G>C (p.Ala810Pro)
n.1737G>C
c.1270G>C (p.Ala424Pro)
c.1420G>C (p.Ala474Pro)
n.6004G>C
n.462G>C
c.592G>C (p.Ala198Pro)
c.1423G>C (p.Ala475Pro)
c.1414G>C (p.Ala472Pro)
c.1384G>C (p.Ala462Pro)
5g.139325575G=CA1586265188MATR3c.2284G= (p.Ala762=)
c.2428G= (p.Ala810=)
n.1737G=
c.1270G= (p.Ala424=)
c.1420G= (p.Ala474=)
n.6004G=
n.462G=
c.592G= (p.Ala198=)
c.1423G= (p.Ala475=)
c.1414G= (p.Ala472=)
c.1384G= (p.Ala462=)
5g.139325575G>TCA361146481MATR3c.2284G>T (p.Ala762Ser)
c.2428G>T (p.Ala810Ser)
n.1737G>T
c.1270G>T (p.Ala424Ser)
c.1420G>T (p.Ala474Ser)
n.6004G>T
n.462G>T
c.592G>T (p.Ala198Ser)
c.1423G>T (p.Ala475Ser)
c.1414G>T (p.Ala472Ser)
c.1384G>T (p.Ala462Ser)
5g.139325576C>ACA361146483MATR3c.2285C>A (p.Ala762Glu)
c.2429C>A (p.Ala810Glu)
n.1738C>A
c.1271C>A (p.Ala424Glu)
c.1421C>A (p.Ala474Glu)
n.6005C>A
n.463C>A
c.593C>A (p.Ala198Glu)
c.1424C>A (p.Ala475Glu)
c.1415C>A (p.Ala472Glu)
c.1385C>A (p.Ala462Glu)
5g.139325576C=CA1586265192MATR3c.2285C= (p.Ala762=)
c.2429C= (p.Ala810=)
n.1738C=
c.1271C= (p.Ala424=)
c.1421C= (p.Ala474=)
n.6005C=
n.463C=
c.593C= (p.Ala198=)
c.1424C= (p.Ala475=)
c.1415C= (p.Ala472=)
c.1385C= (p.Ala462=)
5g.139325576C>GCA361146485MATR3c.2285C>G (p.Ala762Gly)
c.2429C>G (p.Ala810Gly)
n.1738C>G
c.1271C>G (p.Ala424Gly)
c.1421C>G (p.Ala474Gly)
n.6005C>G
n.463C>G
c.593C>G (p.Ala198Gly)
c.1424C>G (p.Ala475Gly)
c.1415C>G (p.Ala472Gly)
c.1385C>G (p.Ala462Gly)
 dbSNP gnomAD v4 COSMIC COSMIC
5g.139325576C>TCA361146487MATR3c.2285C>T (p.Ala762Val)
c.2429C>T (p.Ala810Val)
n.1738C>T
c.1271C>T (p.Ala424Val)
c.1421C>T (p.Ala474Val)
n.6005C>T
n.463C>T
c.593C>T (p.Ala198Val)
c.1424C>T (p.Ala475Val)
c.1415C>T (p.Ala472Val)
c.1385C>T (p.Ala462Val)
 gnomAD v4
5g.139325577A>CCA446793680MATR3c.2286A>C (p.Ala762=)
c.2430A>C (p.Ala810=)
n.1739A>C
c.1272A>C (p.Ala424=)
c.1422A>C (p.Ala474=)
n.6006A>C
n.464A>C
c.594A>C (p.Ala198=)
c.1425A>C (p.Ala475=)
c.1416A>C (p.Ala472=)
c.1386A>C (p.Ala462=)
5g.139325577A>GCA446793681MATR3c.2286A>G (p.Ala762=)
c.2430A>G (p.Ala810=)
n.1739A>G
c.1272A>G (p.Ala424=)
c.1422A>G (p.Ala474=)
n.6006A>G
n.464A>G
c.594A>G (p.Ala198=)
c.1425A>G (p.Ala475=)
c.1416A>G (p.Ala472=)
c.1386A>G (p.Ala462=)
5g.139325577A>TCA446793682MATR3c.2286A>T (p.Ala762=)
c.2430A>T (p.Ala810=)
n.1739A>T
c.1272A>T (p.Ala424=)
c.1422A>T (p.Ala474=)
n.6006A>T
n.464A>T
c.594A>T (p.Ala198=)
c.1425A>T (p.Ala475=)
c.1416A>T (p.Ala472=)
c.1386A>T (p.Ala462=)
5g.139325578G>ACA361146488MATR3c.2287G>A (p.Asp763Asn)
c.2431G>A (p.Asp811Asn)
n.1740G>A
c.1273G>A (p.Asp425Asn)
c.1423G>A (p.Asp475Asn)
n.6007G>A
n.465G>A
c.595G>A (p.Asp199Asn)
c.1426G>A (p.Asp476Asn)
c.1417G>A (p.Asp473Asn)
c.1387G>A (p.Asp463Asn)
5g.139325578G>CCA361146490MATR3c.2287G>C (p.Asp763His)
c.2431G>C (p.Asp811His)
n.1740G>C
c.1273G>C (p.Asp425His)
c.1423G>C (p.Asp475His)
n.6007G>C
n.465G>C
c.595G>C (p.Asp199His)
c.1426G>C (p.Asp476His)
c.1417G>C (p.Asp473His)
c.1387G>C (p.Asp463His)
 gnomAD v4
5g.139325578G>TCA361146492MATR3c.2287G>T (p.Asp763Tyr)
c.2431G>T (p.Asp811Tyr)
n.1740G>T
c.1273G>T (p.Asp425Tyr)
c.1423G>T (p.Asp475Tyr)
n.6007G>T
n.465G>T
c.595G>T (p.Asp199Tyr)
c.1426G>T (p.Asp476Tyr)
c.1417G>T (p.Asp473Tyr)
c.1387G>T (p.Asp463Tyr)
5g.139325579A=CA1586265194MATR3c.2288A= (p.Asp763=)
c.2432A= (p.Asp811=)
n.1741A=
c.1274A= (p.Asp425=)
c.1424A= (p.Asp475=)
n.6008A=
n.466A=
c.596A= (p.Asp199=)
c.1427A= (p.Asp476=)
c.1418A= (p.Asp473=)
c.1388A= (p.Asp463=)
5g.139325579A>CCA361146496MATR3c.2288A>C (p.Asp763Ala)
c.2432A>C (p.Asp811Ala)
n.1741A>C
c.1274A>C (p.Asp425Ala)
c.1424A>C (p.Asp475Ala)
n.6008A>C
n.466A>C
c.596A>C (p.Asp199Ala)
c.1427A>C (p.Asp476Ala)
c.1418A>C (p.Asp473Ala)
c.1388A>C (p.Asp463Ala)
5g.139325579A>GCA361146494MATR3c.2288A>G (p.Asp763Gly)
c.2432A>G (p.Asp811Gly)
n.1741A>G
c.1274A>G (p.Asp425Gly)
c.1424A>G (p.Asp475Gly)
n.6008A>G
n.466A>G
c.596A>G (p.Asp199Gly)
c.1427A>G (p.Asp476Gly)
c.1418A>G (p.Asp473Gly)
c.1388A>G (p.Asp463Gly)
 gnomAD v4
5g.139325579A>TCA128241127MATR3c.2288A>T (p.Asp763Val)
c.2432A>T (p.Asp811Val)
n.1741A>T
c.1274A>T (p.Asp425Val)
c.1424A>T (p.Asp475Val)
n.6008A>T
n.466A>T
c.596A>T (p.Asp199Val)
c.1427A>T (p.Asp476Val)
c.1418A>T (p.Asp473Val)
c.1388A>T (p.Asp463Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139325580T>ACA361146498MATR3c.2289T>A (p.Asp763Glu)
c.2433T>A (p.Asp811Glu)
n.1742T>A
c.1275T>A (p.Asp425Glu)
c.1425T>A (p.Asp475Glu)
n.6009T>A
n.467T>A
c.597T>A (p.Asp199Glu)
c.1428T>A (p.Asp476Glu)
c.1419T>A (p.Asp473Glu)
c.1389T>A (p.Asp463Glu)
5g.139325580T>CCA446793686MATR3c.2289T>C (p.Asp763=)
c.2433T>C (p.Asp811=)
n.1742T>C
c.1275T>C (p.Asp425=)
c.1425T>C (p.Asp475=)
n.6009T>C
n.467T>C
c.597T>C (p.Asp199=)
c.1428T>C (p.Asp476=)
c.1419T>C (p.Asp473=)
c.1389T>C (p.Asp463=)
5g.139325580T>GCA361146500MATR3c.2289T>G (p.Asp763Glu)
c.2433T>G (p.Asp811Glu)
n.1742T>G
c.1275T>G (p.Asp425Glu)
c.1425T>G (p.Asp475Glu)
n.6009T>G
n.467T>G
c.597T>G (p.Asp199Glu)
c.1428T>G (p.Asp476Glu)
c.1419T>G (p.Asp473Glu)
c.1389T>G (p.Asp463Glu)
5g.139325581G>ACA361146501MATR3c.2290G>A (p.Gly764Ser)
c.2434G>A (p.Gly812Ser)
n.1743G>A
c.1276G>A (p.Gly426Ser)
c.1426G>A (p.Gly476Ser)
n.6010G>A
n.468G>A
c.598G>A (p.Gly200Ser)
c.1429G>A (p.Gly477Ser)
c.1420G>A (p.Gly474Ser)
c.1390G>A (p.Gly464Ser)
5g.139325581G>CCA361146504MATR3c.2290G>C (p.Gly764Arg)
c.2434G>C (p.Gly812Arg)
n.1743G>C
c.1276G>C (p.Gly426Arg)
c.1426G>C (p.Gly476Arg)
n.6010G>C
n.468G>C
c.598G>C (p.Gly200Arg)
c.1429G>C (p.Gly477Arg)
c.1420G>C (p.Gly474Arg)
c.1390G>C (p.Gly464Arg)
5g.139325581G>TCA361146503MATR3c.2290G>T (p.Gly764Cys)
c.2434G>T (p.Gly812Cys)
n.1743G>T
c.1276G>T (p.Gly426Cys)
c.1426G>T (p.Gly476Cys)
n.6010G>T
n.468G>T
c.598G>T (p.Gly200Cys)
c.1429G>T (p.Gly477Cys)
c.1420G>T (p.Gly474Cys)
c.1390G>T (p.Gly464Cys)
5g.139325582G>ACA361146507MATR3c.2291G>A (p.Gly764Asp)
c.2435G>A (p.Gly812Asp)
n.1744G>A
c.1277G>A (p.Gly426Asp)
c.1427G>A (p.Gly476Asp)
n.6011G>A
n.469G>A
c.599G>A (p.Gly200Asp)
c.1430G>A (p.Gly477Asp)
c.1421G>A (p.Gly474Asp)
c.1391G>A (p.Gly464Asp)
5g.139325582G>CCA361146508MATR3c.2291G>C (p.Gly764Ala)
c.2435G>C (p.Gly812Ala)
n.1744G>C
c.1277G>C (p.Gly426Ala)
c.1427G>C (p.Gly476Ala)
n.6011G>C
n.469G>C
c.599G>C (p.Gly200Ala)
c.1430G>C (p.Gly477Ala)
c.1421G>C (p.Gly474Ala)
c.1391G>C (p.Gly464Ala)
5g.139325582G>TCA361146509MATR3c.2291G>T (p.Gly764Val)
c.2435G>T (p.Gly812Val)
n.1744G>T
c.1277G>T (p.Gly426Val)
c.1427G>T (p.Gly476Val)
n.6011G>T
n.469G>T
c.599G>T (p.Gly200Val)
c.1430G>T (p.Gly477Val)
c.1421G>T (p.Gly474Val)
c.1391G>T (p.Gly464Val)
5g.139325583T>ACA446793691MATR3c.2292T>A (p.Gly764=)
c.2436T>A (p.Gly812=)
n.1745T>A
c.1278T>A (p.Gly426=)
c.1428T>A (p.Gly476=)
n.6012T>A
n.470T>A
c.600T>A (p.Gly200=)
c.1431T>A (p.Gly477=)
c.1422T>A (p.Gly474=)
c.1392T>A (p.Gly464=)
5g.139325583T>CCA446793688MATR3c.2292T>C (p.Gly764=)
c.2436T>C (p.Gly812=)
n.1745T>C
c.1278T>C (p.Gly426=)
c.1428T>C (p.Gly476=)
n.6012T>C
n.470T>C
c.600T>C (p.Gly200=)
c.1431T>C (p.Gly477=)
c.1422T>C (p.Gly474=)
c.1392T>C (p.Gly464=)
 dbSNP gnomAD v2 gnomAD v4
5g.139325583T>GCA446793689MATR3c.2292T>G (p.Gly764=)
c.2436T>G (p.Gly812=)
n.1745T>G
c.1278T>G (p.Gly426=)
c.1428T>G (p.Gly476=)
n.6012T>G
n.470T>G
c.600T>G (p.Gly200=)
c.1431T>G (p.Gly477=)
c.1422T>G (p.Gly474=)
c.1392T>G (p.Gly464=)
5g.139325583T=CA1586265197MATR3c.2292T= (p.Gly764=)
c.2436T= (p.Gly812=)
n.1745T=
c.1278T= (p.Gly426=)
c.1428T= (p.Gly476=)
n.6012T=
n.470T=
c.600T= (p.Gly200=)
c.1431T= (p.Gly477=)
c.1422T= (p.Gly474=)
c.1392T= (p.Gly464=)
5g.139325584C>ACA361146511MATR3c.2293C>A (p.Gln765Lys)
c.2437C>A (p.Gln813Lys)
n.1746C>A
c.1279C>A (p.Gln427Lys)
c.1429C>A (p.Gln477Lys)
n.6013C>A
n.471C>A
c.601C>A (p.Gln201Lys)
c.1432C>A (p.Gln478Lys)
c.1423C>A (p.Gln475Lys)
c.1393C>A (p.Gln465Lys)
 gnomAD v4
5g.139325584C>GCA361146513MATR3c.2293C>G (p.Gln765Glu)
c.2437C>G (p.Gln813Glu)
n.1746C>G
c.1279C>G (p.Gln427Glu)
c.1429C>G (p.Gln477Glu)
n.6013C>G
n.471C>G
c.601C>G (p.Gln201Glu)
c.1432C>G (p.Gln478Glu)
c.1423C>G (p.Gln475Glu)
c.1393C>G (p.Gln465Glu)
5g.139325584C>TCA361146515MATR3c.2293C>T (p.Gln765Ter)
c.2437C>T (p.Gln813Ter)
n.1746C>T
c.1279C>T (p.Gln427Ter)
c.1429C>T (p.Gln477Ter)
n.6013C>T
n.471C>T
c.601C>T (p.Gln201Ter)
c.1432C>T (p.Gln478Ter)
c.1423C>T (p.Gln475Ter)
c.1393C>T (p.Gln465Ter)
5g.139325585A=CA1586265200MATR3c.2294A= (p.Gln765=)
c.2438A= (p.Gln813=)
n.1747A=
c.1280A= (p.Gln427=)
c.1430A= (p.Gln477=)
n.6014A=
n.472A=
c.602A= (p.Gln201=)
c.1433A= (p.Gln478=)
c.1424A= (p.Gln475=)
c.1394A= (p.Gln465=)
5g.139325585A>CCA361146517MATR3c.2294A>C (p.Gln765Pro)
c.2438A>C (p.Gln813Pro)
n.1747A>C
c.1280A>C (p.Gln427Pro)
c.1430A>C (p.Gln477Pro)
n.6014A>C
n.472A>C
c.602A>C (p.Gln201Pro)
c.1433A>C (p.Gln478Pro)
c.1424A>C (p.Gln475Pro)
c.1394A>C (p.Gln465Pro)
5g.139325585A>GCA128241143MATR3c.2294A>G (p.Gln765Arg)
c.2438A>G (p.Gln813Arg)
n.1747A>G
c.1280A>G (p.Gln427Arg)
c.1430A>G (p.Gln477Arg)
n.6014A>G
n.472A>G
c.602A>G (p.Gln201Arg)
c.1433A>G (p.Gln478Arg)
c.1424A>G (p.Gln475Arg)
c.1394A>G (p.Gln465Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139325585A>TCA361146519MATR3c.2294A>T (p.Gln765Leu)
c.2438A>T (p.Gln813Leu)
n.1747A>T
c.1280A>T (p.Gln427Leu)
c.1430A>T (p.Gln477Leu)
n.6014A>T
n.472A>T
c.602A>T (p.Gln201Leu)
c.1433A>T (p.Gln478Leu)
c.1424A>T (p.Gln475Leu)
c.1394A>T (p.Gln465Leu)
5g.139325586A=CA1586265203MATR3c.2295A= (p.Gln765=)
c.2439A= (p.Gln813=)
n.1748A=
c.1281A= (p.Gln427=)
c.1431A= (p.Gln477=)
n.6015A=
n.473A=
c.603A= (p.Gln201=)
c.1434A= (p.Gln478=)
c.1425A= (p.Gln475=)
c.1395A= (p.Gln465=)
5g.139325586A>CCA3433413MATR3c.2295A>C (p.Gln765His)
c.2439A>C (p.Gln813His)
n.1748A>C
c.1281A>C (p.Gln427His)
c.1431A>C (p.Gln477His)
n.6015A>C
n.473A>C
c.603A>C (p.Gln201His)
c.1434A>C (p.Gln478His)
c.1425A>C (p.Gln475His)
c.1395A>C (p.Gln465His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139325586A>GCA446793698MATR3c.2295A>G (p.Gln765=)
c.2439A>G (p.Gln813=)
n.1748A>G
c.1281A>G (p.Gln427=)
c.1431A>G (p.Gln477=)
n.6015A>G
n.473A>G
c.603A>G (p.Gln201=)
c.1434A>G (p.Gln478=)
c.1425A>G (p.Gln475=)
c.1395A>G (p.Gln465=)
5g.139325586A>TCA361146520MATR3c.2295A>T (p.Gln765His)
c.2439A>T (p.Gln813His)
n.1748A>T
c.1281A>T (p.Gln427His)
c.1431A>T (p.Gln477His)
n.6015A>T
n.473A>T
c.603A>T (p.Gln201His)
c.1434A>T (p.Gln478His)
c.1425A>T (p.Gln475His)
c.1395A>T (p.Gln465His)
5g.139325587A>CCA361146523MATR3c.2296A>C (p.Ser766Arg)
c.2440A>C (p.Ser814Arg)
n.1749A>C
c.1282A>C (p.Ser428Arg)
c.1432A>C (p.Ser478Arg)
n.6016A>C
n.474A>C
c.604A>C (p.Ser202Arg)
c.1435A>C (p.Ser479Arg)
c.1426A>C (p.Ser476Arg)
c.1396A>C (p.Ser466Arg)
5g.139325587A>GCA361146521MATR3c.2296A>G (p.Ser766Gly)
c.2440A>G (p.Ser814Gly)
n.1749A>G
c.1282A>G (p.Ser428Gly)
c.1432A>G (p.Ser478Gly)
n.6016A>G
n.474A>G
c.604A>G (p.Ser202Gly)
c.1435A>G (p.Ser479Gly)
c.1426A>G (p.Ser476Gly)
c.1396A>G (p.Ser466Gly)
5g.139325587A>TCA361146522MATR3c.2296A>T (p.Ser766Cys)
c.2440A>T (p.Ser814Cys)
n.1749A>T
c.1282A>T (p.Ser428Cys)
c.1432A>T (p.Ser478Cys)
n.6016A>T
n.474A>T
c.604A>T (p.Ser202Cys)
c.1435A>T (p.Ser479Cys)
c.1426A>T (p.Ser476Cys)
c.1396A>T (p.Ser466Cys)
5g.139325589_139325595delCA2675515000MATR3c.2298_2304del (p.Ser766ArgfsTer25)
c.2442_2448del (p.Ser814ArgfsTer25)
n.1751_1757del
c.1284_1290del (p.Ser428ArgfsTer25)
c.1434_1440del (p.Ser478ArgfsTer25)
n.6018_6024del
c.2298_2304del (p.Ser766ArgfsTer?)
n.476_482del
c.606_612del (p.Ser202ArgfsTer25)
c.1437_1443del (p.Ser479ArgfsTer25)
c.1428_1434del (p.Ser476ArgfsTer25)
c.1398_1404del (p.Ser466ArgfsTer25)
 gnomAD v4
5g.139325588G>ACA361146524MATR3c.2297G>A (p.Ser766Asn)
c.2441G>A (p.Ser814Asn)
n.1750G>A
c.1283G>A (p.Ser428Asn)
c.1433G>A (p.Ser478Asn)
n.6017G>A
n.475G>A
c.605G>A (p.Ser202Asn)
c.1436G>A (p.Ser479Asn)
c.1427G>A (p.Ser476Asn)
c.1397G>A (p.Ser466Asn)
5g.139325588G>CCA361146525MATR3c.2297G>C (p.Ser766Thr)
c.2441G>C (p.Ser814Thr)
n.1750G>C
c.1283G>C (p.Ser428Thr)
c.1433G>C (p.Ser478Thr)
n.6017G>C
n.475G>C
c.605G>C (p.Ser202Thr)
c.1436G>C (p.Ser479Thr)
c.1427G>C (p.Ser476Thr)
c.1397G>C (p.Ser466Thr)
5g.139325588G=CA1586265206MATR3c.2297G= (p.Ser766=)
c.2441G= (p.Ser814=)
n.1750G=
c.1283G= (p.Ser428=)
c.1433G= (p.Ser478=)
n.6017G=
n.475G=
c.605G= (p.Ser202=)
c.1436G= (p.Ser479=)
c.1427G= (p.Ser476=)
c.1397G= (p.Ser466=)
5g.139325588G>TCA3433414MATR3c.2297G>T (p.Ser766Ile)
c.2441G>T (p.Ser814Ile)
n.1750G>T
c.1283G>T (p.Ser428Ile)
c.1433G>T (p.Ser478Ile)
n.6017G>T
n.475G>T
c.605G>T (p.Ser202Ile)
c.1436G>T (p.Ser479Ile)
c.1427G>T (p.Ser476Ile)
c.1397G>T (p.Ser466Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139325589T>ACA361146526MATR3c.2298T>A (p.Ser766Arg)
c.2442T>A (p.Ser814Arg)
n.1751T>A
c.1284T>A (p.Ser428Arg)
c.1434T>A (p.Ser478Arg)
n.6018T>A
n.476T>A
c.606T>A (p.Ser202Arg)
c.1437T>A (p.Ser479Arg)
c.1428T>A (p.Ser476Arg)
c.1398T>A (p.Ser466Arg)
5g.139325589T>CCA446793700MATR3c.2298T>C (p.Ser766=)
c.2442T>C (p.Ser814=)
n.1751T>C
c.1284T>C (p.Ser428=)
c.1434T>C (p.Ser478=)
n.6018T>C
n.476T>C
c.606T>C (p.Ser202=)
c.1437T>C (p.Ser479=)
c.1428T>C (p.Ser476=)
c.1398T>C (p.Ser466=)
5g.139325589T>GCA361146527MATR3c.2298T>G (p.Ser766Arg)
c.2442T>G (p.Ser814Arg)
n.1751T>G
c.1284T>G (p.Ser428Arg)
c.1434T>G (p.Ser478Arg)
n.6018T>G
n.476T>G
c.606T>G (p.Ser202Arg)
c.1437T>G (p.Ser479Arg)
c.1428T>G (p.Ser476Arg)
c.1398T>G (p.Ser466Arg)
5g.139325590G>ACA361146528MATR3c.2299G>A (p.Asp767Asn)
c.2443G>A (p.Asp815Asn)
n.1752G>A
c.1285G>A (p.Asp429Asn)
c.1435G>A (p.Asp479Asn)
n.6019G>A
n.477G>A
c.607G>A (p.Asp203Asn)
c.1438G>A (p.Asp480Asn)
c.1429G>A (p.Asp477Asn)
c.1399G>A (p.Asp467Asn)
 dbSNP gnomAD v2 gnomAD v4
5g.139325590G>CCA361146529MATR3c.2299G>C (p.Asp767His)
c.2443G>C (p.Asp815His)
n.1752G>C
c.1285G>C (p.Asp429His)
c.1435G>C (p.Asp479His)
n.6019G>C
n.477G>C
c.607G>C (p.Asp203His)
c.1438G>C (p.Asp480His)
c.1429G>C (p.Asp477His)
c.1399G>C (p.Asp467His)
5g.139325590G=CA1586265212MATR3c.2299G= (p.Asp767=)
c.2443G= (p.Asp815=)
n.1752G=
c.1285G= (p.Asp429=)
c.1435G= (p.Asp479=)
n.6019G=
n.477G=
c.607G= (p.Asp203=)
c.1438G= (p.Asp480=)
c.1429G= (p.Asp477=)
c.1399G= (p.Asp467=)
5g.139325590G>TCA361146530MATR3c.2299G>T (p.Asp767Tyr)
c.2443G>T (p.Asp815Tyr)
n.1752G>T
c.1285G>T (p.Asp429Tyr)
c.1435G>T (p.Asp479Tyr)
n.6019G>T
n.477G>T
c.607G>T (p.Asp203Tyr)
c.1438G>T (p.Asp480Tyr)
c.1429G>T (p.Asp477Tyr)
c.1399G>T (p.Asp467Tyr)
5g.139325591A>CCA361146531MATR3c.2300A>C (p.Asp767Ala)
c.2444A>C (p.Asp815Ala)
n.1753A>C
c.1286A>C (p.Asp429Ala)
c.1436A>C (p.Asp479Ala)
n.6020A>C
n.478A>C
c.608A>C (p.Asp203Ala)
c.1439A>C (p.Asp480Ala)
c.1430A>C (p.Asp477Ala)
c.1400A>C (p.Asp467Ala)
5g.139325591A>GCA361146532MATR3c.2300A>G (p.Asp767Gly)
c.2444A>G (p.Asp815Gly)
n.1753A>G
c.1286A>G (p.Asp429Gly)
c.1436A>G (p.Asp479Gly)
n.6020A>G
n.478A>G
c.608A>G (p.Asp203Gly)
c.1439A>G (p.Asp480Gly)
c.1430A>G (p.Asp477Gly)
c.1400A>G (p.Asp467Gly)
5g.139325591A>TCA361146533MATR3c.2300A>T (p.Asp767Val)
c.2444A>T (p.Asp815Val)
n.1753A>T
c.1286A>T (p.Asp429Val)
c.1436A>T (p.Asp479Val)
n.6020A>T
n.478A>T
c.608A>T (p.Asp203Val)
c.1439A>T (p.Asp480Val)
c.1430A>T (p.Asp477Val)
c.1400A>T (p.Asp467Val)
 ClinVar gnomAD v4
5g.139325592T>ACA3433416MATR3c.2301T>A (p.Asp767Glu)
c.2445T>A (p.Asp815Glu)
n.1754T>A
c.1287T>A (p.Asp429Glu)
c.1437T>A (p.Asp479Glu)
n.6021T>A
n.479T>A
c.609T>A (p.Asp203Glu)
c.1440T>A (p.Asp480Glu)
c.1431T>A (p.Asp477Glu)
c.1401T>A (p.Asp467Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325592T>CCA3433415MATR3c.2301T>C (p.Asp767=)
c.2445T>C (p.Asp815=)
n.1754T>C
c.1287T>C (p.Asp429=)
c.1437T>C (p.Asp479=)
n.6021T>C
n.479T>C
c.609T>C (p.Asp203=)
c.1440T>C (p.Asp480=)
c.1431T>C (p.Asp477=)
c.1401T>C (p.Asp467=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.139325592T>GCA361146534MATR3c.2301T>G (p.Asp767Glu)
c.2445T>G (p.Asp815Glu)
n.1754T>G
c.1287T>G (p.Asp429Glu)
c.1437T>G (p.Asp479Glu)
n.6021T>G
n.479T>G
c.609T>G (p.Asp203Glu)
c.1440T>G (p.Asp480Glu)
c.1431T>G (p.Asp477Glu)
c.1401T>G (p.Asp467Glu)
5g.139325592T=CA1586265215MATR3c.2301T= (p.Asp767=)
c.2445T= (p.Asp815=)
n.1754T=
c.1287T= (p.Asp429=)
c.1437T= (p.Asp479=)
n.6021T=
n.479T=
c.609T= (p.Asp203=)
c.1440T= (p.Asp480=)
c.1431T= (p.Asp477=)
c.1401T= (p.Asp467=)
5g.139325593G>ACA361146535MATR3c.2302G>A (p.Glu768Lys)
c.2446G>A (p.Glu816Lys)
n.1755G>A
c.1288G>A (p.Glu430Lys)
c.1438G>A (p.Glu480Lys)
n.6022G>A
n.480G>A
c.610G>A (p.Glu204Lys)
c.1441G>A (p.Glu481Lys)
c.1432G>A (p.Glu478Lys)
c.1402G>A (p.Glu468Lys)
5g.139325593G>CCA361146536MATR3c.2302G>C (p.Glu768Gln)
c.2446G>C (p.Glu816Gln)
n.1755G>C
c.1288G>C (p.Glu430Gln)
c.1438G>C (p.Glu480Gln)
n.6022G>C
n.480G>C
c.610G>C (p.Glu204Gln)
c.1441G>C (p.Glu481Gln)
c.1432G>C (p.Glu478Gln)
c.1402G>C (p.Glu468Gln)
5g.139325593G>TCA361146537MATR3c.2302G>T (p.Glu768Ter)
c.2446G>T (p.Glu816Ter)
n.1755G>T
c.1288G>T (p.Glu430Ter)
c.1438G>T (p.Glu480Ter)
n.6022G>T
n.480G>T
c.610G>T (p.Glu204Ter)
c.1441G>T (p.Glu481Ter)
c.1432G>T (p.Glu478Ter)
c.1402G>T (p.Glu468Ter)
5g.139325593_139325595delCA2739275104MATR3c.2302_2304del (p.Glu768del)
c.2446_2448del (p.Glu816del)
n.1755_1757del
c.1288_1290del (p.Glu430del)
c.1438_1440del (p.Glu480del)
n.6022_6024del
n.480_482del
c.610_612del (p.Glu204del)
c.1441_1443del (p.Glu481del)
c.1432_1434del (p.Glu478del)
c.1402_1404del (p.Glu468del)
 ClinVar
5g.139325594A>CCA361146538MATR3c.2303A>C (p.Glu768Ala)
c.2447A>C (p.Glu816Ala)
n.1756A>C
c.1289A>C (p.Glu430Ala)
c.1439A>C (p.Glu480Ala)
n.6023A>C
n.481A>C
c.611A>C (p.Glu204Ala)
c.1442A>C (p.Glu481Ala)
c.1433A>C (p.Glu478Ala)
c.1403A>C (p.Glu468Ala)
5g.139325594A>GCA361146539MATR3c.2303A>G (p.Glu768Gly)
c.2447A>G (p.Glu816Gly)
n.1756A>G
c.1289A>G (p.Glu430Gly)
c.1439A>G (p.Glu480Gly)
n.6023A>G
n.481A>G
c.611A>G (p.Glu204Gly)
c.1442A>G (p.Glu481Gly)
c.1433A>G (p.Glu478Gly)
c.1403A>G (p.Glu468Gly)
5g.139325594A>TCA361146540MATR3c.2303A>T (p.Glu768Val)
c.2447A>T (p.Glu816Val)
n.1756A>T
c.1289A>T (p.Glu430Val)
c.1439A>T (p.Glu480Val)
n.6023A>T
n.481A>T
c.611A>T (p.Glu204Val)
c.1442A>T (p.Glu481Val)
c.1433A>T (p.Glu478Val)
c.1403A>T (p.Glu468Val)
5g.139325595G>ACA446793708MATR3c.2304G>A (p.Glu768=)
c.2448G>A (p.Glu816=)
n.1757G>A
c.1290G>A (p.Glu430=)
c.1440G>A (p.Glu480=)
n.6024G>A
n.482G>A
c.612G>A (p.Glu204=)
c.1443G>A (p.Glu481=)
c.1434G>A (p.Glu478=)
c.1404G>A (p.Glu468=)
5g.139325595G>CCA361146541MATR3c.2304G>C (p.Glu768Asp)
c.2448G>C (p.Glu816Asp)
n.1757G>C
c.1290G>C (p.Glu430Asp)
c.1440G>C (p.Glu480Asp)
n.6024G>C
n.482G>C
c.612G>C (p.Glu204Asp)
c.1443G>C (p.Glu481Asp)
c.1434G>C (p.Glu478Asp)
c.1404G>C (p.Glu468Asp)
5g.139325595G>TCA361146542MATR3c.2304G>T (p.Glu768Asp)
c.2448G>T (p.Glu816Asp)
n.1757G>T
c.1290G>T (p.Glu430Asp)
c.1440G>T (p.Glu480Asp)
n.6024G>T
n.482G>T
c.612G>T (p.Glu204Asp)
c.1443G>T (p.Glu481Asp)
c.1434G>T (p.Glu478Asp)
c.1404G>T (p.Glu468Asp)
5g.139325596A>CCA361146543MATR3c.2305A>C (p.Asn769His)
c.2449A>C (p.Asn817His)
n.1758A>C
c.1291A>C (p.Asn431His)
c.1441A>C (p.Asn481His)
n.6025A>C
n.483A>C
c.613A>C (p.Asn205His)
c.1444A>C (p.Asn482His)
c.1435A>C (p.Asn479His)
c.1405A>C (p.Asn469His)
5g.139325596A>GCA361146544MATR3c.2305A>G (p.Asn769Asp)
c.2449A>G (p.Asn817Asp)
n.1758A>G
c.1291A>G (p.Asn431Asp)
c.1441A>G (p.Asn481Asp)
n.6025A>G
n.483A>G
c.613A>G (p.Asn205Asp)
c.1444A>G (p.Asn482Asp)
c.1435A>G (p.Asn479Asp)
c.1405A>G (p.Asn469Asp)
5g.139325596A>TCA361146545MATR3c.2305A>T (p.Asn769Tyr)
c.2449A>T (p.Asn817Tyr)
n.1758A>T
c.1291A>T (p.Asn431Tyr)
c.1441A>T (p.Asn481Tyr)
n.6025A>T
n.483A>T
c.613A>T (p.Asn205Tyr)
c.1444A>T (p.Asn482Tyr)
c.1435A>T (p.Asn479Tyr)
c.1405A>T (p.Asn469Tyr)
5g.139325597A=CA1586265217MATR3c.2306A= (p.Asn769=)
c.2450A= (p.Asn817=)
n.1759A=
c.1292A= (p.Asn431=)
c.1442A= (p.Asn481=)
n.6026A=
n.484A=
c.614A= (p.Asn205=)
c.1445A= (p.Asn482=)
c.1436A= (p.Asn479=)
c.1406A= (p.Asn469=)
5g.139325597A>CCA361146546MATR3c.2306A>C (p.Asn769Thr)
c.2450A>C (p.Asn817Thr)
n.1759A>C
c.1292A>C (p.Asn431Thr)
c.1442A>C (p.Asn481Thr)
n.6026A>C
n.484A>C
c.614A>C (p.Asn205Thr)
c.1445A>C (p.Asn482Thr)
c.1436A>C (p.Asn479Thr)
c.1406A>C (p.Asn469Thr)
5g.139325597A>GCA361146547MATR3c.2306A>G (p.Asn769Ser)
c.2450A>G (p.Asn817Ser)
n.1759A>G
c.1292A>G (p.Asn431Ser)
c.1442A>G (p.Asn481Ser)
n.6026A>G
n.484A>G
c.614A>G (p.Asn205Ser)
c.1445A>G (p.Asn482Ser)
c.1436A>G (p.Asn479Ser)
c.1406A>G (p.Asn469Ser)
 gnomAD v4
5g.139325597A>TCA361146548MATR3c.2306A>T (p.Asn769Ile)
c.2450A>T (p.Asn817Ile)
n.1759A>T
c.1292A>T (p.Asn431Ile)
c.1442A>T (p.Asn481Ile)
n.6026A>T
n.484A>T
c.614A>T (p.Asn205Ile)
c.1445A>T (p.Asn482Ile)
c.1436A>T (p.Asn479Ile)
c.1406A>T (p.Asn469Ile)
 dbSNP gnomAD v4
5g.139325598C>ACA361146549MATR3c.2307C>A (p.Asn769Lys)
c.2451C>A (p.Asn817Lys)
n.1760C>A
c.1293C>A (p.Asn431Lys)
c.1443C>A (p.Asn481Lys)
n.6027C>A
n.485C>A
c.615C>A (p.Asn205Lys)
c.1446C>A (p.Asn482Lys)
c.1437C>A (p.Asn479Lys)
c.1407C>A (p.Asn469Lys)
 dbSNP
5g.139325598C=CA1586265221MATR3c.2307C= (p.Asn769=)
c.2451C= (p.Asn817=)
n.1760C=
c.1293C= (p.Asn431=)
c.1443C= (p.Asn481=)
n.6027C=
n.485C=
c.615C= (p.Asn205=)
c.1446C= (p.Asn482=)
c.1437C= (p.Asn479=)
c.1407C= (p.Asn469=)
5g.139325598C>GCA361146550MATR3c.2307C>G (p.Asn769Lys)
c.2451C>G (p.Asn817Lys)
n.1760C>G
c.1293C>G (p.Asn431Lys)
c.1443C>G (p.Asn481Lys)
n.6027C>G
n.485C>G
c.615C>G (p.Asn205Lys)
c.1446C>G (p.Asn482Lys)
c.1437C>G (p.Asn479Lys)
c.1407C>G (p.Asn469Lys)
5g.139325598C>TCA446793713MATR3c.2307C>T (p.Asn769=)
c.2451C>T (p.Asn817=)
n.1760C>T
c.1293C>T (p.Asn431=)
c.1443C>T (p.Asn481=)
n.6027C>T
n.485C>T
c.615C>T (p.Asn205=)
c.1446C>T (p.Asn482=)
c.1437C>T (p.Asn479=)
c.1407C>T (p.Asn469=)
5g.139325599A=CA1586265222MATR3c.2308A= (p.Lys770=)
c.2452A= (p.Lys818=)
n.1761A=
c.1294A= (p.Lys432=)
c.1444A= (p.Lys482=)
n.6028A=
n.486A=
c.616A= (p.Lys206=)
c.1447A= (p.Lys483=)
c.1438A= (p.Lys480=)
c.1408A= (p.Lys470=)
5g.139325599A>CCA361146551MATR3c.2308A>C (p.Lys770Gln)
c.2452A>C (p.Lys818Gln)
n.1761A>C
c.1294A>C (p.Lys432Gln)
c.1444A>C (p.Lys482Gln)
n.6028A>C
n.486A>C
c.616A>C (p.Lys206Gln)
c.1447A>C (p.Lys483Gln)
c.1438A>C (p.Lys480Gln)
c.1408A>C (p.Lys470Gln)
 dbSNP gnomAD v3 gnomAD v4
5g.139325599A>GCA361146552MATR3c.2308A>G (p.Lys770Glu)
c.2452A>G (p.Lys818Glu)
n.1761A>G
c.1294A>G (p.Lys432Glu)
c.1444A>G (p.Lys482Glu)
n.6028A>G
n.486A>G
c.616A>G (p.Lys206Glu)
c.1447A>G (p.Lys483Glu)
c.1438A>G (p.Lys480Glu)
c.1408A>G (p.Lys470Glu)
5g.139325599A>TCA361146553MATR3c.2308A>T (p.Lys770Ter)
c.2452A>T (p.Lys818Ter)
n.1761A>T
c.1294A>T (p.Lys432Ter)
c.1444A>T (p.Lys482Ter)
n.6028A>T
n.486A>T
c.616A>T (p.Lys206Ter)
c.1447A>T (p.Lys483Ter)
c.1438A>T (p.Lys480Ter)
c.1408A>T (p.Lys470Ter)
5g.139325600A>CCA361146554MATR3c.2309A>C (p.Lys770Thr)
c.2453A>C (p.Lys818Thr)
n.1762A>C
c.1295A>C (p.Lys432Thr)
c.1445A>C (p.Lys482Thr)
n.6029A>C
n.487A>C
c.617A>C (p.Lys206Thr)
c.1448A>C (p.Lys483Thr)
c.1439A>C (p.Lys480Thr)
c.1409A>C (p.Lys470Thr)
5g.139325600A>GCA361146555MATR3c.2309A>G (p.Lys770Arg)
c.2453A>G (p.Lys818Arg)
n.1762A>G
c.1295A>G (p.Lys432Arg)
c.1445A>G (p.Lys482Arg)
n.6029A>G
n.487A>G
c.617A>G (p.Lys206Arg)
c.1448A>G (p.Lys483Arg)
c.1439A>G (p.Lys480Arg)
c.1409A>G (p.Lys470Arg)
5g.139325600A>TCA361146556MATR3c.2309A>T (p.Lys770Met)
c.2453A>T (p.Lys818Met)
n.1762A>T
c.1295A>T (p.Lys432Met)
c.1445A>T (p.Lys482Met)
n.6029A>T
n.487A>T
c.617A>T (p.Lys206Met)
c.1448A>T (p.Lys483Met)
c.1439A>T (p.Lys480Met)
c.1409A>T (p.Lys470Met)
5g.139325601G>ACA446793719MATR3c.2310G>A (p.Lys770=)
c.2454G>A (p.Lys818=)
n.1763G>A
c.1296G>A (p.Lys432=)
c.1446G>A (p.Lys482=)
n.6030G>A
n.488G>A
c.618G>A (p.Lys206=)
c.1449G>A (p.Lys483=)
c.1440G>A (p.Lys480=)
c.1410G>A (p.Lys470=)
 gnomAD v4
5g.139325601G>CCA361146557MATR3c.2310G>C (p.Lys770Asn)
c.2454G>C (p.Lys818Asn)
n.1763G>C
c.1296G>C (p.Lys432Asn)
c.1446G>C (p.Lys482Asn)
n.6030G>C
n.488G>C
c.618G>C (p.Lys206Asn)
c.1449G>C (p.Lys483Asn)
c.1440G>C (p.Lys480Asn)
c.1410G>C (p.Lys470Asn)
 ClinVar dbSNP gnomAD v4
5g.139325601G=CA1586265225MATR3c.2310G= (p.Lys770=)
c.2454G= (p.Lys818=)
n.1763G=
c.1296G= (p.Lys432=)
c.1446G= (p.Lys482=)
n.6030G=
n.488G=
c.618G= (p.Lys206=)
c.1449G= (p.Lys483=)
c.1440G= (p.Lys480=)
c.1410G= (p.Lys470=)
5g.139325601G>TCA361146558MATR3c.2310G>T (p.Lys770Asn)
c.2454G>T (p.Lys818Asn)
n.1763G>T
c.1296G>T (p.Lys432Asn)
c.1446G>T (p.Lys482Asn)
n.6030G>T
n.488G>T
c.618G>T (p.Lys206Asn)
c.1449G>T (p.Lys483Asn)
c.1440G>T (p.Lys480Asn)
c.1410G>T (p.Lys470Asn)
5g.139325602G>ACA361146559MATR3c.2311G>A (p.Asp771Asn)
c.2455G>A (p.Asp819Asn)
n.1764G>A
c.1297G>A (p.Asp433Asn)
c.1447G>A (p.Asp483Asn)
n.6031G>A
n.489G>A
c.619G>A (p.Asp207Asn)
c.1450G>A (p.Asp484Asn)
c.1441G>A (p.Asp481Asn)
c.1411G>A (p.Asp471Asn)
5g.139325602G>CCA361146560MATR3c.2311G>C (p.Asp771His)
c.2455G>C (p.Asp819His)
n.1764G>C
c.1297G>C (p.Asp433His)
c.1447G>C (p.Asp483His)
n.6031G>C
n.489G>C
c.619G>C (p.Asp207His)
c.1450G>C (p.Asp484His)
c.1441G>C (p.Asp481His)
c.1411G>C (p.Asp471His)
5g.139325602G>TCA361146561MATR3c.2311G>T (p.Asp771Tyr)
c.2455G>T (p.Asp819Tyr)
n.1764G>T
c.1297G>T (p.Asp433Tyr)
c.1447G>T (p.Asp483Tyr)
n.6031G>T
n.489G>T
c.619G>T (p.Asp207Tyr)
c.1450G>T (p.Asp484Tyr)
c.1441G>T (p.Asp481Tyr)
c.1411G>T (p.Asp471Tyr)
5g.139325603A>CCA361146562MATR3c.2312A>C (p.Asp771Ala)
c.2456A>C (p.Asp819Ala)
n.1765A>C
c.1298A>C (p.Asp433Ala)
c.1448A>C (p.Asp483Ala)
n.6032A>C
n.490A>C
c.620A>C (p.Asp207Ala)
c.1451A>C (p.Asp484Ala)
c.1442A>C (p.Asp481Ala)
c.1412A>C (p.Asp471Ala)
5g.139325603A>GCA361146563MATR3c.2312A>G (p.Asp771Gly)
c.2456A>G (p.Asp819Gly)
n.1765A>G
c.1298A>G (p.Asp433Gly)
c.1448A>G (p.Asp483Gly)
n.6032A>G
n.490A>G
c.620A>G (p.Asp207Gly)
c.1451A>G (p.Asp484Gly)
c.1442A>G (p.Asp481Gly)
c.1412A>G (p.Asp471Gly)
5g.139325603A>TCA361146564MATR3c.2312A>T (p.Asp771Val)
c.2456A>T (p.Asp819Val)
n.1765A>T
c.1298A>T (p.Asp433Val)
c.1448A>T (p.Asp483Val)
n.6032A>T
n.490A>T
c.620A>T (p.Asp207Val)
c.1451A>T (p.Asp484Val)
c.1442A>T (p.Asp481Val)
c.1412A>T (p.Asp471Val)
5g.139325604C>ACA361146565MATR3c.2313C>A (p.Asp771Glu)
c.2457C>A (p.Asp819Glu)
n.1766C>A
c.1299C>A (p.Asp433Glu)
c.1449C>A (p.Asp483Glu)
n.6033C>A
n.491C>A
c.621C>A (p.Asp207Glu)
c.1452C>A (p.Asp484Glu)
c.1443C>A (p.Asp481Glu)
c.1413C>A (p.Asp471Glu)
5g.139325604C=CA1586265228MATR3c.2313C= (p.Asp771=)
c.2457C= (p.Asp819=)
n.1766C=
c.1299C= (p.Asp433=)
c.1449C= (p.Asp483=)
n.6033C=
n.491C=
c.621C= (p.Asp207=)
c.1452C= (p.Asp484=)
c.1443C= (p.Asp481=)
c.1413C= (p.Asp471=)
5g.139325604C>GCA361146566MATR3c.2313C>G (p.Asp771Glu)
c.2457C>G (p.Asp819Glu)
n.1766C>G
c.1299C>G (p.Asp433Glu)
c.1449C>G (p.Asp483Glu)
n.6033C>G
n.491C>G
c.621C>G (p.Asp207Glu)
c.1452C>G (p.Asp484Glu)
c.1443C>G (p.Asp481Glu)
c.1413C>G (p.Asp471Glu)
 dbSNP
5g.139325604C>TCA446793724MATR3c.2313C>T (p.Asp771=)
c.2457C>T (p.Asp819=)
n.1766C>T
c.1299C>T (p.Asp433=)
c.1449C>T (p.Asp483=)
n.6033C>T
n.491C>T
c.621C>T (p.Asp207=)
c.1452C>T (p.Asp484=)
c.1443C>T (p.Asp481=)
c.1413C>T (p.Asp471=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139325605G>ACA3433417MATR3c.2314G>A (p.Asp772Asn)
c.2458G>A (p.Asp820Asn)
n.1767G>A
c.1300G>A (p.Asp434Asn)
c.1450G>A (p.Asp484Asn)
n.6034G>A
n.492G>A
c.622G>A (p.Asp208Asn)
c.1453G>A (p.Asp485Asn)
c.1444G>A (p.Asp482Asn)
c.1414G>A (p.Asp472Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325605G>CCA361146568MATR3c.2314G>C (p.Asp772His)
c.2458G>C (p.Asp820His)
n.1767G>C
c.1300G>C (p.Asp434His)
c.1450G>C (p.Asp484His)
n.6034G>C
n.492G>C
c.622G>C (p.Asp208His)
c.1453G>C (p.Asp485His)
c.1444G>C (p.Asp482His)
c.1414G>C (p.Asp472His)
5g.139325605G=CA1586265233MATR3c.2314G= (p.Asp772=)
c.2458G= (p.Asp820=)
n.1767G=
c.1300G= (p.Asp434=)
c.1450G= (p.Asp484=)
n.6034G=
n.492G=
c.622G= (p.Asp208=)
c.1453G= (p.Asp485=)
c.1444G= (p.Asp482=)
c.1414G= (p.Asp472=)
5g.139325605G>TCA361146567MATR3c.2314G>T (p.Asp772Tyr)
c.2458G>T (p.Asp820Tyr)
n.1767G>T
c.1300G>T (p.Asp434Tyr)
c.1450G>T (p.Asp484Tyr)
n.6034G>T
n.492G>T
c.622G>T (p.Asp208Tyr)
c.1453G>T (p.Asp485Tyr)
c.1444G>T (p.Asp482Tyr)
c.1414G>T (p.Asp472Tyr)
5g.139325606A>CCA361146569MATR3c.2315A>C (p.Asp772Ala)
c.2459A>C (p.Asp820Ala)
n.1768A>C
c.1301A>C (p.Asp434Ala)
c.1451A>C (p.Asp484Ala)
n.6035A>C
n.493A>C
c.623A>C (p.Asp208Ala)
c.1454A>C (p.Asp485Ala)
c.1445A>C (p.Asp482Ala)
c.1415A>C (p.Asp472Ala)
5g.139325606A>GCA361146570MATR3c.2315A>G (p.Asp772Gly)
c.2459A>G (p.Asp820Gly)
n.1768A>G
c.1301A>G (p.Asp434Gly)
c.1451A>G (p.Asp484Gly)
n.6035A>G
n.493A>G
c.623A>G (p.Asp208Gly)
c.1454A>G (p.Asp485Gly)
c.1445A>G (p.Asp482Gly)
c.1415A>G (p.Asp472Gly)
 gnomAD v4
5g.139325606A>TCA361146571MATR3c.2315A>T (p.Asp772Val)
c.2459A>T (p.Asp820Val)
n.1768A>T
c.1301A>T (p.Asp434Val)
c.1451A>T (p.Asp484Val)
n.6035A>T
n.493A>T
c.623A>T (p.Asp208Val)
c.1454A>T (p.Asp485Val)
c.1445A>T (p.Asp482Val)
c.1415A>T (p.Asp472Val)
5g.139325607C>ACA361146572MATR3c.2316C>A (p.Asp772Glu)
c.2460C>A (p.Asp820Glu)
n.1769C>A
c.1302C>A (p.Asp434Glu)
c.1452C>A (p.Asp484Glu)
n.6036C>A
n.494C>A
c.624C>A (p.Asp208Glu)
c.1455C>A (p.Asp485Glu)
c.1446C>A (p.Asp482Glu)
c.1416C>A (p.Asp472Glu)
5g.139325607C=CA1586265238MATR3c.2316C= (p.Asp772=)
c.2460C= (p.Asp820=)
n.1769C=
c.1302C= (p.Asp434=)
c.1452C= (p.Asp484=)
n.6036C=
n.494C=
c.624C= (p.Asp208=)
c.1455C= (p.Asp485=)
c.1446C= (p.Asp482=)
c.1416C= (p.Asp472=)
5g.139325607C>GCA3433418MATR3c.2316C>G (p.Asp772Glu)
c.2460C>G (p.Asp820Glu)
n.1769C>G
c.1302C>G (p.Asp434Glu)
c.1452C>G (p.Asp484Glu)
n.6036C>G
n.494C>G
c.624C>G (p.Asp208Glu)
c.1455C>G (p.Asp485Glu)
c.1446C>G (p.Asp482Glu)
c.1416C>G (p.Asp472Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.139325607C>TCA446793731MATR3c.2316C>T (p.Asp772=)
c.2460C>T (p.Asp820=)
n.1769C>T
c.1302C>T (p.Asp434=)
c.1452C>T (p.Asp484=)
n.6036C>T
n.494C>T
c.624C>T (p.Asp208=)
c.1455C>T (p.Asp485=)
c.1446C>T (p.Asp482=)
c.1416C>T (p.Asp472=)
5g.139325608T>ACA361146573MATR3c.2317T>A (p.Tyr773Asn)
c.2461T>A (p.Tyr821Asn)
n.1770T>A
c.1303T>A (p.Tyr435Asn)
c.1453T>A (p.Tyr485Asn)
n.6037T>A
n.495T>A
c.625T>A (p.Tyr209Asn)
c.1456T>A (p.Tyr486Asn)
c.1447T>A (p.Tyr483Asn)
c.1417T>A (p.Tyr473Asn)
 ClinVar
5g.139325608T>CCA128241171MATR3c.2317T>C (p.Tyr773His)
c.2461T>C (p.Tyr821His)
n.1770T>C
c.1303T>C (p.Tyr435His)
c.1453T>C (p.Tyr485His)
n.6037T>C
n.495T>C
c.625T>C (p.Tyr209His)
c.1456T>C (p.Tyr486His)
c.1447T>C (p.Tyr483His)
c.1417T>C (p.Tyr473His)
 dbSNP gnomAD v4
5g.139325608T>GCA3433419MATR3c.2317T>G (p.Tyr773Asp)
c.2461T>G (p.Tyr821Asp)
n.1770T>G
c.1303T>G (p.Tyr435Asp)
c.1453T>G (p.Tyr485Asp)
n.6037T>G
n.495T>G
c.625T>G (p.Tyr209Asp)
c.1456T>G (p.Tyr486Asp)
c.1447T>G (p.Tyr483Asp)
c.1417T>G (p.Tyr473Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325608T=CA1586265240MATR3c.2317T= (p.Tyr773=)
c.2461T= (p.Tyr821=)
n.1770T=
c.1303T= (p.Tyr435=)
c.1453T= (p.Tyr485=)
n.6037T=
n.495T=
c.625T= (p.Tyr209=)
c.1456T= (p.Tyr486=)
c.1447T= (p.Tyr483=)
c.1417T= (p.Tyr473=)
5g.139325609A=CA1586265252MATR3c.2318A= (p.Tyr773=)
c.2462A= (p.Tyr821=)
n.1771A=
c.1304A= (p.Tyr435=)
c.1454A= (p.Tyr485=)
n.6038A=
n.496A=
c.626A= (p.Tyr209=)
c.1457A= (p.Tyr486=)
c.1448A= (p.Tyr483=)
c.1418A= (p.Tyr473=)
5g.139325609A>CCA3433420MATR3c.2318A>C (p.Tyr773Ser)
c.2462A>C (p.Tyr821Ser)
n.1771A>C
c.1304A>C (p.Tyr435Ser)
c.1454A>C (p.Tyr485Ser)
n.6038A>C
n.496A>C
c.626A>C (p.Tyr209Ser)
c.1457A>C (p.Tyr486Ser)
c.1448A>C (p.Tyr483Ser)
c.1418A>C (p.Tyr473Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325609A>GCA3433421MATR3c.2318A>G (p.Tyr773Cys)
c.2462A>G (p.Tyr821Cys)
n.1771A>G
c.1304A>G (p.Tyr435Cys)
c.1454A>G (p.Tyr485Cys)
n.6038A>G
n.496A>G
c.626A>G (p.Tyr209Cys)
c.1457A>G (p.Tyr486Cys)
c.1448A>G (p.Tyr483Cys)
c.1418A>G (p.Tyr473Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325609A>TCA361146574MATR3c.2318A>T (p.Tyr773Phe)
c.2462A>T (p.Tyr821Phe)
n.1771A>T
c.1304A>T (p.Tyr435Phe)
c.1454A>T (p.Tyr485Phe)
n.6038A>T
n.496A>T
c.626A>T (p.Tyr209Phe)
c.1457A>T (p.Tyr486Phe)
c.1448A>T (p.Tyr483Phe)
c.1418A>T (p.Tyr473Phe)
5g.139325610T>ACA361146575MATR3c.2319T>A (p.Tyr773Ter)
c.2463T>A (p.Tyr821Ter)
n.1772T>A
c.1305T>A (p.Tyr435Ter)
c.1455T>A (p.Tyr485Ter)
n.6039T>A
n.497T>A
c.627T>A (p.Tyr209Ter)
c.1458T>A (p.Tyr486Ter)
c.1449T>A (p.Tyr483Ter)
c.1419T>A (p.Tyr473Ter)
5g.139325610T>CCA446793734MATR3c.2319T>C (p.Tyr773=)
c.2463T>C (p.Tyr821=)
n.1772T>C
c.1305T>C (p.Tyr435=)
c.1455T>C (p.Tyr485=)
n.6039T>C
n.497T>C
c.627T>C (p.Tyr209=)
c.1458T>C (p.Tyr486=)
c.1449T>C (p.Tyr483=)
c.1419T>C (p.Tyr473=)
5g.139325610T>GCA361146576MATR3c.2319T>G (p.Tyr773Ter)
c.2463T>G (p.Tyr821Ter)
n.1772T>G
c.1305T>G (p.Tyr435Ter)
c.1455T>G (p.Tyr485Ter)
n.6039T>G
n.497T>G
c.627T>G (p.Tyr209Ter)
c.1458T>G (p.Tyr486Ter)
c.1449T>G (p.Tyr483Ter)
c.1419T>G (p.Tyr473Ter)
5g.139325611A=CA1586265255MATR3c.2320A= (p.Thr774=)
c.2464A= (p.Thr822=)
n.1773A=
c.1306A= (p.Thr436=)
c.1456A= (p.Thr486=)
n.6040A=
n.498A=
c.628A= (p.Thr210=)
c.1459A= (p.Thr487=)
c.1450A= (p.Thr484=)
c.1420A= (p.Thr474=)
5g.139325611A>CCA361146577MATR3c.2320A>C (p.Thr774Pro)
c.2464A>C (p.Thr822Pro)
n.1773A>C
c.1306A>C (p.Thr436Pro)
c.1456A>C (p.Thr486Pro)
n.6040A>C
n.498A>C
c.628A>C (p.Thr210Pro)
c.1459A>C (p.Thr487Pro)
c.1450A>C (p.Thr484Pro)
c.1420A>C (p.Thr474Pro)
5g.139325611A>GCA361146579MATR3c.2320A>G (p.Thr774Ala)
c.2464A>G (p.Thr822Ala)
n.1773A>G
c.1306A>G (p.Thr436Ala)
c.1456A>G (p.Thr486Ala)
n.6040A>G
n.498A>G
c.628A>G (p.Thr210Ala)
c.1459A>G (p.Thr487Ala)
c.1450A>G (p.Thr484Ala)
c.1420A>G (p.Thr474Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.139325611A>TCA361146578MATR3c.2320A>T (p.Thr774Ser)
c.2464A>T (p.Thr822Ser)
n.1773A>T
c.1306A>T (p.Thr436Ser)
c.1456A>T (p.Thr486Ser)
n.6040A>T
n.498A>T
c.628A>T (p.Thr210Ser)
c.1459A>T (p.Thr487Ser)
c.1450A>T (p.Thr484Ser)
c.1420A>T (p.Thr474Ser)
5g.139325612C>ACA361146580MATR3c.2321C>A (p.Thr774Lys)
c.2465C>A (p.Thr822Lys)
n.1774C>A
c.1307C>A (p.Thr436Lys)
c.1457C>A (p.Thr486Lys)
n.6041C>A
n.499C>A
c.629C>A (p.Thr210Lys)
c.1460C>A (p.Thr487Lys)
c.1451C>A (p.Thr484Lys)
c.1421C>A (p.Thr474Lys)
5g.139325612C=CA1586265258MATR3c.2321C= (p.Thr774=)
c.2465C= (p.Thr822=)
n.1774C=
c.1307C= (p.Thr436=)
c.1457C= (p.Thr486=)
n.6041C=
n.499C=
c.629C= (p.Thr210=)
c.1460C= (p.Thr487=)
c.1451C= (p.Thr484=)
c.1421C= (p.Thr474=)
5g.139325612C>GCA361146581MATR3c.2321C>G (p.Thr774Arg)
c.2465C>G (p.Thr822Arg)
n.1774C>G
c.1307C>G (p.Thr436Arg)
c.1457C>G (p.Thr486Arg)
n.6041C>G
n.499C>G
c.629C>G (p.Thr210Arg)
c.1460C>G (p.Thr487Arg)
c.1451C>G (p.Thr484Arg)
c.1421C>G (p.Thr474Arg)
 gnomAD v4
5g.139325612C>TCA361146582MATR3c.2321C>T (p.Thr774Ile)
c.2465C>T (p.Thr822Ile)
n.1774C>T
c.1307C>T (p.Thr436Ile)
c.1457C>T (p.Thr486Ile)
n.6041C>T
n.499C>T
c.629C>T (p.Thr210Ile)
c.1460C>T (p.Thr487Ile)
c.1451C>T (p.Thr484Ile)
c.1421C>T (p.Thr474Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.139325613A>CCA446793739MATR3c.2322A>C (p.Thr774=)
c.2466A>C (p.Thr822=)
n.1775A>C
c.1308A>C (p.Thr436=)
c.1458A>C (p.Thr486=)
n.6042A>C
n.500A>C
c.630A>C (p.Thr210=)
c.1461A>C (p.Thr487=)
c.1452A>C (p.Thr484=)
c.1422A>C (p.Thr474=)
5g.139325613A>GCA446793740MATR3c.2322A>G (p.Thr774=)
c.2466A>G (p.Thr822=)
n.1775A>G
c.1308A>G (p.Thr436=)
c.1458A>G (p.Thr486=)
n.6042A>G
n.500A>G
c.630A>G (p.Thr210=)
c.1461A>G (p.Thr487=)
c.1452A>G (p.Thr484=)
c.1422A>G (p.Thr474=)
5g.139325613A>TCA446793741MATR3c.2322A>T (p.Thr774=)
c.2466A>T (p.Thr822=)
n.1775A>T
c.1308A>T (p.Thr436=)
c.1458A>T (p.Thr486=)
n.6042A>T
n.500A>T
c.630A>T (p.Thr210=)
c.1461A>T (p.Thr487=)
c.1452A>T (p.Thr484=)
c.1422A>T (p.Thr474=)
5g.139325614A=CA1586265262MATR3c.2323A= (p.Ile775=)
c.2467A= (p.Ile823=)
n.1776A=
c.1309A= (p.Ile437=)
c.1459A= (p.Ile487=)
n.6043A=
n.501A=
c.631A= (p.Ile211=)
c.1462A= (p.Ile488=)
c.1453A= (p.Ile485=)
c.1423A= (p.Ile475=)
5g.139325614A>CCA361146583MATR3c.2323A>C (p.Ile775Leu)
c.2467A>C (p.Ile823Leu)
n.1776A>C
c.1309A>C (p.Ile437Leu)
c.1459A>C (p.Ile487Leu)
n.6043A>C
n.501A>C
c.631A>C (p.Ile211Leu)
c.1462A>C (p.Ile488Leu)
c.1453A>C (p.Ile485Leu)
c.1423A>C (p.Ile475Leu)
5g.139325614A>GCA3433422MATR3c.2323A>G (p.Ile775Val)
c.2467A>G (p.Ile823Val)
n.1776A>G
c.1309A>G (p.Ile437Val)
c.1459A>G (p.Ile487Val)
n.6043A>G
n.501A>G
c.631A>G (p.Ile211Val)
c.1462A>G (p.Ile488Val)
c.1453A>G (p.Ile485Val)
c.1423A>G (p.Ile475Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325614A>TCA361146584MATR3c.2323A>T (p.Ile775Phe)
c.2467A>T (p.Ile823Phe)
n.1776A>T
c.1309A>T (p.Ile437Phe)
c.1459A>T (p.Ile487Phe)
n.6043A>T
n.501A>T
c.631A>T (p.Ile211Phe)
c.1462A>T (p.Ile488Phe)
c.1453A>T (p.Ile485Phe)
c.1423A>T (p.Ile475Phe)
5g.139325615T>ACA361146585MATR3c.2324T>A (p.Ile775Asn)
c.2468T>A (p.Ile823Asn)
n.1777T>A
c.1310T>A (p.Ile437Asn)
c.1460T>A (p.Ile487Asn)
n.6044T>A
n.502T>A
c.632T>A (p.Ile211Asn)
c.1463T>A (p.Ile488Asn)
c.1454T>A (p.Ile485Asn)
c.1424T>A (p.Ile475Asn)
5g.139325615T>CCA361146586MATR3c.2324T>C (p.Ile775Thr)
c.2468T>C (p.Ile823Thr)
n.1777T>C
c.1310T>C (p.Ile437Thr)
c.1460T>C (p.Ile487Thr)
n.6044T>C
n.502T>C
c.632T>C (p.Ile211Thr)
c.1463T>C (p.Ile488Thr)
c.1454T>C (p.Ile485Thr)
c.1424T>C (p.Ile475Thr)
5g.139325615T>GCA361146587MATR3c.2324T>G (p.Ile775Ser)
c.2468T>G (p.Ile823Ser)
n.1777T>G
c.1310T>G (p.Ile437Ser)
c.1460T>G (p.Ile487Ser)
n.6044T>G
n.502T>G
c.632T>G (p.Ile211Ser)
c.1463T>G (p.Ile488Ser)
c.1454T>G (p.Ile485Ser)
c.1424T>G (p.Ile475Ser)
5g.139325616C>ACA446793346MATR3c.2325C>A (p.Ile775=)
c.2469C>A (p.Ile823=)
n.1778C>A
c.1311C>A (p.Ile437=)
c.1461C>A (p.Ile487=)
n.6045C>A
n.503C>A
c.633C>A (p.Ile211=)
c.1464C>A (p.Ile488=)
c.1455C>A (p.Ile485=)
c.1425C>A (p.Ile475=)
5g.139325616C>GCA361146588MATR3c.2325C>G (p.Ile775Met)
c.2469C>G (p.Ile823Met)
n.1778C>G
c.1311C>G (p.Ile437Met)
c.1461C>G (p.Ile487Met)
n.6045C>G
n.503C>G
c.633C>G (p.Ile211Met)
c.1464C>G (p.Ile488Met)
c.1455C>G (p.Ile485Met)
c.1425C>G (p.Ile475Met)
5g.139325616C>TCA446793347MATR3c.2325C>T (p.Ile775=)
c.2469C>T (p.Ile823=)
n.1778C>T
c.1311C>T (p.Ile437=)
c.1461C>T (p.Ile487=)
n.6045C>T
n.503C>T
c.633C>T (p.Ile211=)
c.1464C>T (p.Ile488=)
c.1455C>T (p.Ile485=)
c.1425C>T (p.Ile475=)
5g.139325617C>ACA361146589MATR3c.2326C>A (p.Pro776Thr)
c.2470C>A (p.Pro824Thr)
n.1779C>A
c.1312C>A (p.Pro438Thr)
c.1462C>A (p.Pro488Thr)
n.6046C>A
n.504C>A
c.634C>A (p.Pro212Thr)
c.1465C>A (p.Pro489Thr)
c.1456C>A (p.Pro486Thr)
c.1426C>A (p.Pro476Thr)
5g.139325617C=CA1586265264MATR3c.2326C= (p.Pro776=)
c.2470C= (p.Pro824=)
n.1779C=
c.1312C= (p.Pro438=)
c.1462C= (p.Pro488=)
n.6046C=
n.504C=
c.634C= (p.Pro212=)
c.1465C= (p.Pro489=)
c.1456C= (p.Pro486=)
c.1426C= (p.Pro476=)
5g.139325617C>GCA361146590MATR3c.2326C>G (p.Pro776Ala)
c.2470C>G (p.Pro824Ala)
n.1779C>G
c.1312C>G (p.Pro438Ala)
c.1462C>G (p.Pro488Ala)
n.6046C>G
n.504C>G
c.634C>G (p.Pro212Ala)
c.1465C>G (p.Pro489Ala)
c.1456C>G (p.Pro486Ala)
c.1426C>G (p.Pro476Ala)
 gnomAD v4
5g.139325617C>TCA3433423MATR3c.2326C>T (p.Pro776Ser)
c.2470C>T (p.Pro824Ser)
n.1779C>T
c.1312C>T (p.Pro438Ser)
c.1462C>T (p.Pro488Ser)
n.6046C>T
n.504C>T
c.634C>T (p.Pro212Ser)
c.1465C>T (p.Pro489Ser)
c.1456C>T (p.Pro486Ser)
c.1426C>T (p.Pro476Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.139325618C>ACA361146591MATR3c.2327C>A (p.Pro776Gln)
c.2471C>A (p.Pro824Gln)
n.1780C>A
c.1313C>A (p.Pro438Gln)
c.1463C>A (p.Pro488Gln)
n.6047C>A
n.505C>A
c.635C>A (p.Pro212Gln)
c.1466C>A (p.Pro489Gln)
c.1457C>A (p.Pro486Gln)
c.1427C>A (p.Pro476Gln)
5g.139325618C>GCA361146592MATR3c.2327C>G (p.Pro776Arg)
c.2471C>G (p.Pro824Arg)
n.1780C>G
c.1313C>G (p.Pro438Arg)
c.1463C>G (p.Pro488Arg)
n.6047C>G
n.505C>G
c.635C>G (p.Pro212Arg)
c.1466C>G (p.Pro489Arg)
c.1457C>G (p.Pro486Arg)
c.1427C>G (p.Pro476Arg)
5g.139325618C>TCA361146593MATR3c.2327C>T (p.Pro776Leu)
c.2471C>T (p.Pro824Leu)
n.1780C>T
c.1313C>T (p.Pro438Leu)
c.1463C>T (p.Pro488Leu)
n.6047C>T
n.505C>T
c.635C>T (p.Pro212Leu)
c.1466C>T (p.Pro489Leu)
c.1457C>T (p.Pro486Leu)
c.1427C>T (p.Pro476Leu)
 ClinVar COSMIC COSMIC
5g.139325619A>CCA446793348MATR3c.2328A>C (p.Pro776=)
c.2472A>C (p.Pro824=)
n.1781A>C
c.1314A>C (p.Pro438=)
c.1464A>C (p.Pro488=)
n.6048A>C
n.506A>C
c.636A>C (p.Pro212=)
c.1467A>C (p.Pro489=)
c.1458A>C (p.Pro486=)
c.1428A>C (p.Pro476=)
5g.139325619A>GCA446793349MATR3c.2328A>G (p.Pro776=)
c.2472A>G (p.Pro824=)
n.1781A>G
c.1314A>G (p.Pro438=)
c.1464A>G (p.Pro488=)
n.6048A>G
n.506A>G
c.636A>G (p.Pro212=)
c.1467A>G (p.Pro489=)
c.1458A>G (p.Pro486=)
c.1428A>G (p.Pro476=)
 gnomAD v4
5g.139325619A>TCA446793350MATR3c.2328A>T (p.Pro776=)
c.2472A>T (p.Pro824=)
n.1781A>T
c.1314A>T (p.Pro438=)
c.1464A>T (p.Pro488=)
n.6048A>T
n.506A>T
c.636A>T (p.Pro212=)
c.1467A>T (p.Pro489=)
c.1458A>T (p.Pro486=)
c.1428A>T (p.Pro476=)
5g.139325620G>ACA361146594MATR3c.2329G>A (p.Asp777Asn)
c.2473G>A (p.Asp825Asn)
n.1782G>A
c.1315G>A (p.Asp439Asn)
c.1465G>A (p.Asp489Asn)
n.6049G>A
n.507G>A
c.637G>A (p.Asp213Asn)
c.1468G>A (p.Asp490Asn)
c.1459G>A (p.Asp487Asn)
c.1429G>A (p.Asp477Asn)
5g.139325620G>CCA361146595MATR3c.2329G>C (p.Asp777His)
c.2473G>C (p.Asp825His)
n.1782G>C
c.1315G>C (p.Asp439His)
c.1465G>C (p.Asp489His)
n.6049G>C
n.507G>C
c.637G>C (p.Asp213His)
c.1468G>C (p.Asp490His)
c.1459G>C (p.Asp487His)
c.1429G>C (p.Asp477His)
5g.139325620G>TCA361146596MATR3c.2329G>T (p.Asp777Tyr)
c.2473G>T (p.Asp825Tyr)
n.1782G>T
c.1315G>T (p.Asp439Tyr)
c.1465G>T (p.Asp489Tyr)
n.6049G>T
n.507G>T
c.637G>T (p.Asp213Tyr)
c.1468G>T (p.Asp490Tyr)
c.1459G>T (p.Asp487Tyr)
c.1429G>T (p.Asp477Tyr)
5g.139325621A>CCA361146599MATR3c.2330A>C (p.Asp777Ala)
c.2474A>C (p.Asp825Ala)
n.1783A>C
c.1316A>C (p.Asp439Ala)
c.1466A>C (p.Asp489Ala)
n.6050A>C
n.508A>C
c.638A>C (p.Asp213Ala)
c.1469A>C (p.Asp490Ala)
c.1460A>C (p.Asp487Ala)
c.1430A>C (p.Asp477Ala)
5g.139325621A>GCA361146597MATR3c.2330A>G (p.Asp777Gly)
c.2474A>G (p.Asp825Gly)
n.1783A>G
c.1316A>G (p.Asp439Gly)
c.1466A>G (p.Asp489Gly)
n.6050A>G
n.508A>G
c.638A>G (p.Asp213Gly)
c.1469A>G (p.Asp490Gly)
c.1460A>G (p.Asp487Gly)
c.1430A>G (p.Asp477Gly)
 COSMIC COSMIC
5g.139325621A>TCA361146598MATR3c.2330A>T (p.Asp777Val)
c.2474A>T (p.Asp825Val)
n.1783A>T
c.1316A>T (p.Asp439Val)
c.1466A>T (p.Asp489Val)
n.6050A>T
n.508A>T
c.638A>T (p.Asp213Val)
c.1469A>T (p.Asp490Val)
c.1460A>T (p.Asp487Val)
c.1430A>T (p.Asp477Val)
5g.139325622T>ACA361146600MATR3c.2331T>A (p.Asp777Glu)
c.2475T>A (p.Asp825Glu)
n.1784T>A
c.1317T>A (p.Asp439Glu)
c.1467T>A (p.Asp489Glu)
n.6051T>A
n.509T>A
c.639T>A (p.Asp213Glu)
c.1470T>A (p.Asp490Glu)
c.1461T>A (p.Asp487Glu)
c.1431T>A (p.Asp477Glu)
5g.139325622T>CCA446793352MATR3c.2331T>C (p.Asp777=)
c.2475T>C (p.Asp825=)
n.1784T>C
c.1317T>C (p.Asp439=)
c.1467T>C (p.Asp489=)
n.6051T>C
n.509T>C
c.639T>C (p.Asp213=)
c.1470T>C (p.Asp490=)
c.1461T>C (p.Asp487=)
c.1431T>C (p.Asp477=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.139325622T>GCA361146601MATR3c.2331T>G (p.Asp777Glu)
c.2475T>G (p.Asp825Glu)
n.1784T>G
c.1317T>G (p.Asp439Glu)
c.1467T>G (p.Asp489Glu)
n.6051T>G
n.509T>G
c.639T>G (p.Asp213Glu)
c.1470T>G (p.Asp490Glu)
c.1461T>G (p.Asp487Glu)
c.1431T>G (p.Asp477Glu)
 gnomAD v4
5g.139325622T=CA1586265267MATR3c.2331T= (p.Asp777=)
c.2475T= (p.Asp825=)
n.1784T=
c.1317T= (p.Asp439=)
c.1467T= (p.Asp489=)
n.6051T=
n.509T=
c.639T= (p.Asp213=)
c.1470T= (p.Asp490=)
c.1461T= (p.Asp487=)
c.1431T= (p.Asp477=)
5g.139325623G>ACA361146602MATR3c.2332G>A (p.Glu778Lys)
c.2476G>A (p.Glu826Lys)
n.1785G>A
c.1318G>A (p.Glu440Lys)
c.1468G>A (p.Glu490Lys)
n.6052G>A
n.510G>A
c.640G>A (p.Glu214Lys)
c.1471G>A (p.Glu491Lys)
c.1462G>A (p.Glu488Lys)
c.1432G>A (p.Glu478Lys)
5g.139325623G>CCA361146603MATR3c.2332G>C (p.Glu778Gln)
c.2476G>C (p.Glu826Gln)
n.1785G>C
c.1318G>C (p.Glu440Gln)
c.1468G>C (p.Glu490Gln)
n.6052G>C
n.510G>C
c.640G>C (p.Glu214Gln)
c.1471G>C (p.Glu491Gln)
c.1462G>C (p.Glu488Gln)
c.1432G>C (p.Glu478Gln)
5g.139325623G>TCA361146604MATR3c.2332G>T (p.Glu778Ter)
c.2476G>T (p.Glu826Ter)
n.1785G>T
c.1318G>T (p.Glu440Ter)
c.1468G>T (p.Glu490Ter)
n.6052G>T
n.510G>T
c.640G>T (p.Glu214Ter)
c.1471G>T (p.Glu491Ter)
c.1462G>T (p.Glu488Ter)
c.1432G>T (p.Glu478Ter)
5g.139325624A=CA1586265273MATR3c.2333A= (p.Glu778=)
c.2477A= (p.Glu826=)
n.1786A=
c.1319A= (p.Glu440=)
c.1469A= (p.Glu490=)
n.6053A=
n.511A=
c.641A= (p.Glu214=)
c.1472A= (p.Glu491=)
c.1463A= (p.Glu488=)
c.1433A= (p.Glu478=)
5g.139325624A>CCA361146605MATR3c.2333A>C (p.Glu778Ala)
c.2477A>C (p.Glu826Ala)
n.1786A>C
c.1319A>C (p.Glu440Ala)
c.1469A>C (p.Glu490Ala)
n.6053A>C
n.511A>C
c.641A>C (p.Glu214Ala)
c.1472A>C (p.Glu491Ala)
c.1463A>C (p.Glu488Ala)
c.1433A>C (p.Glu478Ala)
5g.139325624A>GCA361146607MATR3c.2333A>G (p.Glu778Gly)
c.2477A>G (p.Glu826Gly)
n.1786A>G
c.1319A>G (p.Glu440Gly)
c.1469A>G (p.Glu490Gly)
n.6053A>G
n.511A>G
c.641A>G (p.Glu214Gly)
c.1472A>G (p.Glu491Gly)
c.1463A>G (p.Glu488Gly)
c.1433A>G (p.Glu478Gly)
 dbSNP
5g.139325624A>TCA361146606MATR3c.2333A>T (p.Glu778Val)
c.2477A>T (p.Glu826Val)
n.1786A>T
c.1319A>T (p.Glu440Val)
c.1469A>T (p.Glu490Val)
n.6053A>T
n.511A>T
c.641A>T (p.Glu214Val)
c.1472A>T (p.Glu491Val)
c.1463A>T (p.Glu488Val)
c.1433A>T (p.Glu478Val)
5g.139325625G>ACA446793353MATR3c.2334G>A (p.Glu778=)
c.2478G>A (p.Glu826=)
n.1787G>A
c.1320G>A (p.Glu440=)
c.1470G>A (p.Glu490=)
n.6054G>A
n.512G>A
c.642G>A (p.Glu214=)
c.1473G>A (p.Glu491=)
c.1464G>A (p.Glu488=)
c.1434G>A (p.Glu478=)
 dbSNP
5g.139325625G>CCA361146608MATR3c.2334G>C (p.Glu778Asp)
c.2478G>C (p.Glu826Asp)
n.1787G>C
c.1320G>C (p.Glu440Asp)
c.1470G>C (p.Glu490Asp)
n.6054G>C
n.512G>C
c.642G>C (p.Glu214Asp)
c.1473G>C (p.Glu491Asp)
c.1464G>C (p.Glu488Asp)
c.1434G>C (p.Glu478Asp)
5g.139325625G=CA1586265276MATR3c.2334G= (p.Glu778=)
c.2478G= (p.Glu826=)
n.1787G=
c.1320G= (p.Glu440=)
c.1470G= (p.Glu490=)
n.6054G=
n.512G=
c.642G= (p.Glu214=)
c.1473G= (p.Glu491=)
c.1464G= (p.Glu488=)
c.1434G= (p.Glu478=)
5g.139325625G>TCA361146609MATR3c.2334G>T (p.Glu778Asp)
c.2478G>T (p.Glu826Asp)
n.1787G>T
c.1320G>T (p.Glu440Asp)
c.1470G>T (p.Glu490Asp)
n.6054G>T
n.512G>T
c.642G>T (p.Glu214Asp)
c.1473G>T (p.Glu491Asp)
c.1464G>T (p.Glu488Asp)
c.1434G>T (p.Glu478Asp)
5g.139325626T>ACA361146610MATR3c.2335T>A (p.Tyr779Asn)
c.2479T>A (p.Tyr827Asn)
n.1788T>A
c.1321T>A (p.Tyr441Asn)
c.1471T>A (p.Tyr491Asn)
n.6055T>A
n.513T>A
c.643T>A (p.Tyr215Asn)
c.1474T>A (p.Tyr492Asn)
c.1465T>A (p.Tyr489Asn)
c.1435T>A (p.Tyr479Asn)
5g.139325626T>CCA361146611MATR3c.2335T>C (p.Tyr779His)
c.2479T>C (p.Tyr827His)
n.1788T>C
c.1321T>C (p.Tyr441His)
c.1471T>C (p.Tyr491His)
n.6055T>C
n.513T>C
c.643T>C (p.Tyr215His)
c.1474T>C (p.Tyr492His)
c.1465T>C (p.Tyr489His)
c.1435T>C (p.Tyr479His)
5g.139325626T>GCA361146612MATR3c.2335T>G (p.Tyr779Asp)
c.2479T>G (p.Tyr827Asp)
n.1788T>G
c.1321T>G (p.Tyr441Asp)
c.1471T>G (p.Tyr491Asp)
n.6055T>G
n.513T>G
c.643T>G (p.Tyr215Asp)
c.1474T>G (p.Tyr492Asp)
c.1465T>G (p.Tyr489Asp)
c.1435T>G (p.Tyr479Asp)
5g.139325627A=CA1586265280MATR3c.2336A= (p.Tyr779=)
c.2480A= (p.Tyr827=)
n.1789A=
c.1322A= (p.Tyr441=)
c.1472A= (p.Tyr491=)
n.6056A=
n.514A=
c.644A= (p.Tyr215=)
c.1475A= (p.Tyr492=)
c.1466A= (p.Tyr489=)
c.1436A= (p.Tyr479=)
5g.139325627A>CCA361146613MATR3c.2336A>C (p.Tyr779Ser)
c.2480A>C (p.Tyr827Ser)
n.1789A>C
c.1322A>C (p.Tyr441Ser)
c.1472A>C (p.Tyr491Ser)
n.6056A>C
n.514A>C
c.644A>C (p.Tyr215Ser)
c.1475A>C (p.Tyr492Ser)
c.1466A>C (p.Tyr489Ser)
c.1436A>C (p.Tyr479Ser)
5g.139325627A>GCA361146614MATR3c.2336A>G (p.Tyr779Cys)
c.2480A>G (p.Tyr827Cys)
n.1789A>G
c.1322A>G (p.Tyr441Cys)
c.1472A>G (p.Tyr491Cys)
n.6056A>G
n.514A>G
c.644A>G (p.Tyr215Cys)
c.1475A>G (p.Tyr492Cys)
c.1466A>G (p.Tyr489Cys)
c.1436A>G (p.Tyr479Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.139325627A>TCA361146615MATR3c.2336A>T (p.Tyr779Phe)
c.2480A>T (p.Tyr827Phe)
n.1789A>T
c.1322A>T (p.Tyr441Phe)
c.1472A>T (p.Tyr491Phe)
n.6056A>T
n.514A>T
c.644A>T (p.Tyr215Phe)
c.1475A>T (p.Tyr492Phe)
c.1466A>T (p.Tyr489Phe)
c.1436A>T (p.Tyr479Phe)
5g.139325628T>ACA361146616MATR3c.2337T>A (p.Tyr779Ter)
c.2481T>A (p.Tyr827Ter)
n.1790T>A
c.1323T>A (p.Tyr441Ter)
c.1473T>A (p.Tyr491Ter)
n.6057T>A
n.515T>A
c.645T>A (p.Tyr215Ter)
c.1476T>A (p.Tyr492Ter)
c.1467T>A (p.Tyr489Ter)
c.1437T>A (p.Tyr479Ter)
5g.139325628T>CCA446793354MATR3c.2337T>C (p.Tyr779=)
c.2481T>C (p.Tyr827=)
n.1790T>C
c.1323T>C (p.Tyr441=)
c.1473T>C (p.Tyr491=)
n.6057T>C
n.515T>C
c.645T>C (p.Tyr215=)
c.1476T>C (p.Tyr492=)
c.1467T>C (p.Tyr489=)
c.1437T>C (p.Tyr479=)
 dbSNP gnomAD v3 gnomAD v4
5g.139325628T>GCA361146617MATR3c.2337T>G (p.Tyr779Ter)
c.2481T>G (p.Tyr827Ter)
n.1790T>G
c.1323T>G (p.Tyr441Ter)
c.1473T>G (p.Tyr491Ter)
n.6057T>G
n.515T>G
c.645T>G (p.Tyr215Ter)
c.1476T>G (p.Tyr492Ter)
c.1467T>G (p.Tyr489Ter)
c.1437T>G (p.Tyr479Ter)
5g.139325628T=CA1586265282MATR3c.2337T= (p.Tyr779=)
c.2481T= (p.Tyr827=)
n.1790T=
c.1323T= (p.Tyr441=)
c.1473T= (p.Tyr491=)
n.6057T=
n.515T=
c.645T= (p.Tyr215=)
c.1476T= (p.Tyr492=)
c.1467T= (p.Tyr489=)
c.1437T= (p.Tyr479=)
5g.139325629A>CCA446793355MATR3c.2338A>C (p.Arg780=)
c.2482A>C (p.Arg828=)
n.1791A>C
c.1324A>C (p.Arg442=)
c.1474A>C (p.Arg492=)
n.6058A>C
n.516A>C
c.646A>C (p.Arg216=)
c.1477A>C (p.Arg493=)
c.1468A>C (p.Arg490=)
c.1438A>C (p.Arg480=)
5g.139325629A>GCA361146618MATR3c.2338A>G (p.Arg780Gly)
c.2482A>G (p.Arg828Gly)
n.1791A>G
c.1324A>G (p.Arg442Gly)
c.1474A>G (p.Arg492Gly)
n.6058A>G
n.516A>G
c.646A>G (p.Arg216Gly)
c.1477A>G (p.Arg493Gly)
c.1468A>G (p.Arg490Gly)
c.1438A>G (p.Arg480Gly)
 gnomAD v4
5g.139325629A>TCA361146619MATR3c.2338A>T (p.Arg780Ter)
c.2482A>T (p.Arg828Ter)
n.1791A>T
c.1324A>T (p.Arg442Ter)
c.1474A>T (p.Arg492Ter)
n.6058A>T
n.516A>T
c.646A>T (p.Arg216Ter)
c.1477A>T (p.Arg493Ter)
c.1468A>T (p.Arg490Ter)
c.1438A>T (p.Arg480Ter)
5g.139325630G>ACA361146622MATR3c.2339G>A (p.Arg780Lys)
c.2483G>A (p.Arg828Lys)
n.1792G>A
c.1325G>A (p.Arg442Lys)
c.1475G>A (p.Arg492Lys)
n.6059G>A
n.517G>A
c.647G>A (p.Arg216Lys)
c.1478G>A (p.Arg493Lys)
c.1469G>A (p.Arg490Lys)
c.1439G>A (p.Arg480Lys)
5g.139325630G>CCA361146620MATR3c.2339G>C (p.Arg780Thr)
c.2483G>C (p.Arg828Thr)
n.1792G>C
c.1325G>C (p.Arg442Thr)
c.1475G>C (p.Arg492Thr)
n.6059G>C
n.517G>C
c.647G>C (p.Arg216Thr)
c.1478G>C (p.Arg493Thr)
c.1469G>C (p.Arg490Thr)
c.1439G>C (p.Arg480Thr)
 COSMIC COSMIC
5g.139325630G>TCA361146621MATR3c.2339G>T (p.Arg780Ile)
c.2483G>T (p.Arg828Ile)
n.1792G>T
c.1325G>T (p.Arg442Ile)
c.1475G>T (p.Arg492Ile)
n.6059G>T
n.517G>T
c.647G>T (p.Arg216Ile)
c.1478G>T (p.Arg493Ile)
c.1469G>T (p.Arg490Ile)
c.1439G>T (p.Arg480Ile)
5g.139325631A>CCA361146623MATR3c.2340A>C (p.Arg780Ser)
c.2484A>C (p.Arg828Ser)
n.1793A>C
c.1326A>C (p.Arg442Ser)
c.1476A>C (p.Arg492Ser)
n.6060A>C
n.518A>C
c.648A>C (p.Arg216Ser)
c.1479A>C (p.Arg493Ser)
c.1470A>C (p.Arg490Ser)
c.1440A>C (p.Arg480Ser)
5g.139325631A>GCA446793357MATR3c.2340A>G (p.Arg780=)
c.2484A>G (p.Arg828=)
n.1793A>G
c.1326A>G (p.Arg442=)
c.1476A>G (p.Arg492=)
n.6060A>G
n.518A>G
c.648A>G (p.Arg216=)
c.1479A>G (p.Arg493=)
c.1470A>G (p.Arg490=)
c.1440A>G (p.Arg480=)
 gnomAD v4
5g.139325631A>TCA361146624MATR3c.2340A>T (p.Arg780Ser)
c.2484A>T (p.Arg828Ser)
n.1793A>T
c.1326A>T (p.Arg442Ser)
c.1476A>T (p.Arg492Ser)
n.6060A>T
n.518A>T
c.648A>T (p.Arg216Ser)
c.1479A>T (p.Arg493Ser)
c.1470A>T (p.Arg490Ser)
c.1440A>T (p.Arg480Ser)
5g.139325632A>CCA361146625MATR3c.2341A>C (p.Ile781Leu)
c.2485A>C (p.Ile829Leu)
n.1794A>C
c.1327A>C (p.Ile443Leu)
c.1477A>C (p.Ile493Leu)
n.6061A>C
n.519A>C
c.649A>C (p.Ile217Leu)
c.1480A>C (p.Ile494Leu)
c.1471A>C (p.Ile491Leu)
c.1441A>C (p.Ile481Leu)
5g.139325632A>GCA361146626MATR3c.2341A>G (p.Ile781Val)
c.2485A>G (p.Ile829Val)
n.1794A>G
c.1327A>G (p.Ile443Val)
c.1477A>G (p.Ile493Val)
n.6061A>G
n.519A>G
c.649A>G (p.Ile217Val)
c.1480A>G (p.Ile494Val)
c.1471A>G (p.Ile491Val)
c.1441A>G (p.Ile481Val)
5g.139325632A>TCA361146627MATR3c.2341A>T (p.Ile781Phe)
c.2485A>T (p.Ile829Phe)
n.1794A>T
c.1327A>T (p.Ile443Phe)
c.1477A>T (p.Ile493Phe)
n.6061A>T
n.519A>T
c.649A>T (p.Ile217Phe)
c.1480A>T (p.Ile494Phe)
c.1471A>T (p.Ile491Phe)
c.1441A>T (p.Ile481Phe)
5g.139325633T>ACA361146628MATR3c.2342T>A (p.Ile781Asn)
c.2486T>A (p.Ile829Asn)
n.1795T>A
c.1328T>A (p.Ile443Asn)
c.1478T>A (p.Ile493Asn)
n.6062T>A
n.520T>A
c.650T>A (p.Ile217Asn)
c.1481T>A (p.Ile494Asn)
c.1472T>A (p.Ile491Asn)
c.1442T>A (p.Ile481Asn)
5g.139325633T>CCA361146629MATR3c.2342T>C (p.Ile781Thr)
c.2486T>C (p.Ile829Thr)
n.1795T>C
c.1328T>C (p.Ile443Thr)
c.1478T>C (p.Ile493Thr)
n.6062T>C
n.520T>C
c.650T>C (p.Ile217Thr)
c.1481T>C (p.Ile494Thr)
c.1472T>C (p.Ile491Thr)
c.1442T>C (p.Ile481Thr)
5g.139325633T>GCA361146630MATR3c.2342T>G (p.Ile781Ser)
c.2486T>G (p.Ile829Ser)
n.1795T>G
c.1328T>G (p.Ile443Ser)
c.1478T>G (p.Ile493Ser)
n.6062T>G
n.520T>G
c.650T>G (p.Ile217Ser)
c.1481T>G (p.Ile494Ser)
c.1472T>G (p.Ile491Ser)
c.1442T>G (p.Ile481Ser)
5g.139325634T>ACA446793358MATR3c.2343T>A (p.Ile781=)
c.2487T>A (p.Ile829=)
n.1796T>A
c.1329T>A (p.Ile443=)
c.1479T>A (p.Ile493=)
n.6063T>A
n.521T>A
c.651T>A (p.Ile217=)
c.1482T>A (p.Ile494=)
c.1473T>A (p.Ile491=)
c.1443T>A (p.Ile481=)
5g.139325634T>CCA446793359MATR3c.2343T>C (p.Ile781=)
c.2487T>C (p.Ile829=)
n.1796T>C
c.1329T>C (p.Ile443=)
c.1479T>C (p.Ile493=)
n.6063T>C
n.521T>C
c.651T>C (p.Ile217=)
c.1482T>C (p.Ile494=)
c.1473T>C (p.Ile491=)
c.1443T>C (p.Ile481=)
5g.139325634T>GCA361146631MATR3c.2343T>G (p.Ile781Met)
c.2487T>G (p.Ile829Met)
n.1796T>G
c.1329T>G (p.Ile443Met)
c.1479T>G (p.Ile493Met)
n.6063T>G
n.521T>G
c.651T>G (p.Ile217Met)
c.1482T>G (p.Ile494Met)
c.1473T>G (p.Ile491Met)
c.1443T>G (p.Ile481Met)

Number of alleles fetched