Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.44145009_44145176delinsACA2496602227GCKc.*1356_*1523delinsT (n.*1356_*1523delinsT)
c.*478_*645delinsT (n.*478_*645delinsT)
n.584_751delinsT
c.392_*127delinsT (n.[c.392_*127delinsT;Ser131LeufsTer25])
c.1361_*127delinsT (n.[c.1361_*127delinsT;Ser454LeufsTer25])
c.1358_*127delinsT (n.[c.1358_*127delinsT;Ser453LeufsTer25])
c.1421_*127delinsT (n.[c.1421_*127delinsT;Ser474LeufsTer25])
n.370_381+156delinsT
c.1358_1369+156delinsT
c.410_577delinsT (n.[c.410_577delinsT;Ser137LeufsTer25])
c.1355_*127delinsT (n.[c.1355_*127delinsT;Ser452LeufsTer25])
n.738_905delinsT
c.1355_1522delinsT (n.[c.1355_1522delinsT;Ser452LeufsTer25])
c.347_*127delinsT (n.[c.347_*127delinsT;Ser116LeufsTer25])
c.218_229+156delinsT
c.218_*127delinsT (n.[c.218_*127delinsT;Ser73LeufsTer25])
 ClinVar
7g.44145165_44145194delinsAGGCCACCGCCGAGACCAGGGCCGCGCCCCCA1703612647GCKc.*1338_*1367delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (n.*1338_*1367delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT)
c.*460_*489delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (n.*460_*489delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT)
n.566_595delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT
c.374_403delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg125=)
c.1343_1372delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg448=)
c.1340_1369delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg447=)
c.1403_1432delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg468=)
n.352_381delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT
c.392_421delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg131=)
c.1337_1366delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg446=)
c.1289_1318delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg430=)
n.720_749delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT
c.329_358delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg110=)
c.200_229delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg67=)
7g.44145172_44145200delCA838788768GCKc.*1338_*1366del (n.*1338_*1366del)
c.*460_*488del (n.*460_*488del)
n.566_594del
c.374_402del (p.Arg125LeufsTer2)
c.1343_1371del (p.Arg448LeufsTer2)
c.1340_1368del (p.Arg447LeufsTer2)
c.1403_1431del (p.Arg468LeufsTer2)
n.352_380del
c.1340_1368del (p.Arg447LeufsTer15)
c.392_420del (p.Arg131LeufsTer2)
c.1337_1365del (p.Arg446LeufsTer2)
c.1289_1317del (p.Arg430LeufsTer2)
n.720_748del
c.329_357del (p.Arg110LeufsTer2)
c.200_228del (p.Arg67LeufsTer15)
c.200_228del (p.Arg67LeufsTer2)
 ClinVar dbSNP
7g.44145170_44145588delCA2573142177GCKc.*1163_*1365del
c.*285_*487del
n.391_593del
c.199_401del
c.1168_1370del
c.1165_1367del
c.1228_1430del
n.177_379del
c.217_419del
c.1162_1364del
c.1114_1316del
n.545_747del
c.154_356del
c.25_227del
 ClinVar
7g.44145171C>ACA367396857GCKc.*1361G>T (n.*1361G>T)
c.*483G>T (n.*483G>T)
n.589G>T
c.397G>T (p.Val133Leu)
c.1366G>T (p.Val456Leu)
c.1363G>T (p.Val455Leu)
c.1426G>T (p.Val476Leu)
n.375G>T
c.415G>T (p.Val139Leu)
c.1360G>T (p.Val454Leu)
c.1312G>T (p.Val438Leu)
n.743G>T
c.352G>T (p.Val118Leu)
c.223G>T (p.Val75Leu)
7g.44145171C=CA1703612652GCKc.*1361G= (n.*1361G=)
c.*483G= (n.*483G=)
n.589G=
c.397G= (p.Val133=)
c.1366G= (p.Val456=)
c.1363G= (p.Val455=)
c.1426G= (p.Val476=)
n.375G=
c.415G= (p.Val139=)
c.1360G= (p.Val454=)
c.1312G= (p.Val438=)
n.743G=
c.352G= (p.Val118=)
c.223G= (p.Val75=)
7g.44145171C>GCA367396858GCKc.*1361G>C (n.*1361G>C)
c.*483G>C (n.*483G>C)
n.589G>C
c.397G>C (p.Val133Leu)
c.1366G>C (p.Val456Leu)
c.1363G>C (p.Val455Leu)
c.1426G>C (p.Val476Leu)
n.375G>C
c.415G>C (p.Val139Leu)
c.1360G>C (p.Val454Leu)
c.1312G>C (p.Val438Leu)
n.743G>C
c.352G>C (p.Val118Leu)
c.223G>C (p.Val75Leu)
7g.44145171C>TCA257432GCKc.*1361G>A (n.*1361G>A)
c.*483G>A (n.*483G>A)
n.589G>A
c.397G>A (p.Val133Met)
c.1366G>A (p.Val456Met)
c.1363G>A (p.Val455Met)
c.1426G>A (p.Val476Met)
n.375G>A
c.415G>A (p.Val139Met)
c.1360G>A (p.Val454Met)
c.1312G>A (p.Val438Met)
n.743G>A
c.352G>A (p.Val118Met)
c.223G>A (p.Val75Met)
 ClinVar dbSNP gnomAD v4
7g.44145172_44145173insCCCCCA157911785GCKc.*1361_*1362insGGGG (n.*1361_*1362insGGGG)
c.*483_*484insGGGG (n.*483_*484insGGGG)
n.589_590insGGGG
c.397_398insGGGG (p.Val133GlyfsTer5)
c.1366_1367insGGGG (p.Val456GlyfsTer5)
c.1363_1364insGGGG (p.Val455GlyfsTer5)
c.1426_1427insGGGG (p.Val476GlyfsTer5)
n.375_376insGGGG
c.1363_1364insGGGG (p.Val455GlyfsTer18)
c.415_416insGGGG (p.Val139GlyfsTer5)
c.1360_1361insGGGG (p.Val454GlyfsTer5)
c.1312_1313insGGGG (p.Val438GlyfsTer5)
n.743_744insGGGG
c.352_353insGGGG (p.Val118GlyfsTer5)
c.223_224insGGGG (p.Val75GlyfsTer18)
c.223_224insGGGG (p.Val75GlyfsTer5)
 dbSNP
7g.44145172dupCA2573102980GCKc.*1361dup (n.*1361dup)
c.*483dup (n.*483dup)
n.589dup
c.397dup (p.Val133GlyfsTer4)
c.1366dup (p.Val456GlyfsTer4)
c.1363dup (p.Val455GlyfsTer4)
c.1426dup (p.Val476GlyfsTer4)
n.375dup
c.1363dup (p.Val455GlyfsTer17)
c.415dup (p.Val139GlyfsTer4)
c.1360dup (p.Val454GlyfsTer4)
c.1312dup (p.Val438GlyfsTer4)
n.743dup
c.352dup (p.Val118GlyfsTer4)
c.223dup (p.Val75GlyfsTer17)
c.223dup (p.Val75GlyfsTer4)
 ClinVar
7g.44145174_44145176dupCA645372837GCKc.*1359_*1361dup (n.*1359_*1361dup)
c.*481_*483dup (n.*481_*483dup)
n.587_589dup
c.395_397dup (p.Ala132_Val133insAla)
c.1364_1366dup (p.Ala455_Val456insAla)
c.1361_1363dup (p.Ala454_Val455insAla)
c.1424_1426dup (p.Ala475_Val476insAla)
n.373_375dup
c.413_415dup (p.Ala138_Val139insAla)
c.1358_1360dup (p.Ala453_Val454insAla)
c.1310_1312dup (p.Ala437_Val438insAla)
n.741_743dup
c.350_352dup (p.Ala117_Val118insAla)
c.221_223dup (p.Ala74_Val75insAla)
 ClinVar dbSNP
7g.44145171_44145250delinsCCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCA1703612651GCKc.*1282_*1361delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (n.*1282_*1361delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG)
c.*404_*483delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (n.*404_*483delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG)
n.510_589delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG
c.318_397delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg106=)
c.1287_1366delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg429=)
c.1284_1363delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg428=)
c.1347_1426delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg449=)
n.296_375delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG
c.336_415delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg112=)
c.1281_1360delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg427=)
c.1233_1312delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg411=)
n.664_743delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG
c.273_352delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg91=)
c.144_223delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg48=)
7g.44145172C>ACA157911798GCKc.*1360G>T (n.*1360G>T)
c.*482G>T (n.*482G>T)
n.588G>T
c.396G>T (p.Ala132=)
c.1365G>T (p.Ala455=)
c.1362G>T (p.Ala454=)
c.1425G>T (p.Ala475=)
n.374G>T
c.414G>T (p.Ala138=)
c.1359G>T (p.Ala453=)
c.1311G>T (p.Ala437=)
n.742G>T
c.351G>T (p.Ala117=)
c.222G>T (p.Ala74=)
 dbSNP gnomAD v4
7g.44145172C=CA1703612653GCKc.*1360G= (n.*1360G=)
c.*482G= (n.*482G=)
n.588G=
c.396G= (p.Ala132=)
c.1365G= (p.Ala455=)
c.1362G= (p.Ala454=)
c.1425G= (p.Ala475=)
n.374G=
c.414G= (p.Ala138=)
c.1359G= (p.Ala453=)
c.1311G= (p.Ala437=)
n.742G=
c.351G= (p.Ala117=)
c.222G= (p.Ala74=)
7g.44145172C>GCA454606346GCKc.*1360G>C (n.*1360G>C)
c.*482G>C (n.*482G>C)
n.588G>C
c.396G>C (p.Ala132=)
c.1365G>C (p.Ala455=)
c.1362G>C (p.Ala454=)
c.1425G>C (p.Ala475=)
n.374G>C
c.414G>C (p.Ala138=)
c.1359G>C (p.Ala453=)
c.1311G>C (p.Ala437=)
n.742G>C
c.351G>C (p.Ala117=)
c.222G>C (p.Ala74=)
 gnomAD v4
7g.44145172C>TCA454606347GCKc.*1360G>A (n.*1360G>A)
c.*482G>A (n.*482G>A)
n.588G>A
c.396G>A (p.Ala132=)
c.1365G>A (p.Ala455=)
c.1362G>A (p.Ala454=)
c.1425G>A (p.Ala475=)
n.374G>A
c.414G>A (p.Ala138=)
c.1359G>A (p.Ala453=)
c.1311G>A (p.Ala437=)
n.742G>A
c.351G>A (p.Ala117=)
c.222G>A (p.Ala74=)
 gnomAD v4
7g.44145172_44145184delinsCGCCGAGACCAGGCA1703612654GCKc.*1348_*1360delinsCCTGGTCTCGGCG (n.*1348_*1360delinsCCTGGTCTCGGCG)
c.*470_*482delinsCCTGGTCTCGGCG (n.*470_*482delinsCCTGGTCTCGGCG)
n.576_588delinsCCTGGTCTCGGCG
c.384_396delinsCCTGGTCTCGGCG (p.Ala128=)
c.1353_1365delinsCCTGGTCTCGGCG (p.Ala451=)
c.1350_1362delinsCCTGGTCTCGGCG (p.Ala450=)
c.1413_1425delinsCCTGGTCTCGGCG (p.Ala471=)
n.362_374delinsCCTGGTCTCGGCG
c.402_414delinsCCTGGTCTCGGCG (p.Ala134=)
c.1347_1359delinsCCTGGTCTCGGCG (p.Ala449=)
c.1299_1311delinsCCTGGTCTCGGCG (p.Ala433=)
n.730_742delinsCCTGGTCTCGGCG
c.339_351delinsCCTGGTCTCGGCG (p.Ala113=)
c.210_222delinsCCTGGTCTCGGCG (p.Ala70=)
7g.44145176_44145192delCA2017997776GCKc.*1344_*1360del (n.*1344_*1360del)
c.*466_*482del (n.*466_*482del)
n.572_588del
c.380_396del (p.Ala127GlyfsTer4)
c.1349_1365del (p.Ala450GlyfsTer4)
c.1346_1362del (p.Ala449GlyfsTer4)
c.1409_1425del (p.Ala470GlyfsTer4)
n.358_374del
c.1346_1362del (p.Ala449GlyfsTer17)
c.398_414del (p.Ala133GlyfsTer4)
c.1343_1359del (p.Ala448GlyfsTer4)
c.1295_1311del (p.Ala432GlyfsTer4)
n.726_742del
c.335_351del (p.Ala112GlyfsTer4)
c.206_222del (p.Ala69GlyfsTer17)
c.206_222del (p.Ala69GlyfsTer4)
 ClinVar
7g.44145175_44145253delCA1139660051GCKc.*1282_*1360del (n.*1282_*1360del)
c.*404_*482del (n.*404_*482del)
n.510_588del
c.318_396del (p.Arg107TrpfsTer?)
c.1287_1365del (p.Arg430TrpfsTer?)
c.1284_1362del (p.Arg429TrpfsTer?)
c.1347_1425del (p.Arg450TrpfsTer?)
n.296_374del
c.1284_1362del (p.Arg429TrpfsTer9)
c.336_414del (p.Arg113TrpfsTer?)
c.1281_1359del (p.Arg428TrpfsTer?)
c.1233_1311del (p.Arg412TrpfsTer?)
n.664_742del
c.273_351del (p.Arg92TrpfsTer?)
c.144_222del (p.Arg49TrpfsTer9)
c.144_222del (p.Arg49TrpfsTer?)
 ClinVar dbSNP
7g.44145173delCA2695202948GCKc.*1359del (n.*1359del)
c.*481del (n.*481del)
n.587del
c.395del (p.Ala132GlyfsTer?)
c.1364del (p.Ala455GlyfsTer?)
c.1361del (p.Ala454GlyfsTer?)
c.1424del (p.Ala475GlyfsTer?)
n.373del
c.1361del (p.Ala454GlyfsTer10)
c.413del (p.Ala138GlyfsTer?)
c.1358del (p.Ala453GlyfsTer?)
c.1310del (p.Ala437GlyfsTer?)
n.741del
c.350del (p.Ala117GlyfsTer?)
c.221del (p.Ala74GlyfsTer10)
c.221del (p.Ala74GlyfsTer?)
7g.44145173G>ACA367396861GCKc.*1359C>T (n.*1359C>T)
c.*481C>T (n.*481C>T)
n.587C>T
c.395C>T (p.Ala132Val)
c.1364C>T (p.Ala455Val)
c.1361C>T (p.Ala454Val)
c.1424C>T (p.Ala475Val)
n.373C>T
c.413C>T (p.Ala138Val)
c.1358C>T (p.Ala453Val)
c.1310C>T (p.Ala437Val)
n.741C>T
c.350C>T (p.Ala117Val)
c.221C>T (p.Ala74Val)
 dbSNP gnomAD v2 gnomAD v4
7g.44145173G>CCA367396863GCKc.*1359C>G (n.*1359C>G)
c.*481C>G (n.*481C>G)
n.587C>G
c.395C>G (p.Ala132Gly)
c.1364C>G (p.Ala455Gly)
c.1361C>G (p.Ala454Gly)
c.1424C>G (p.Ala475Gly)
n.373C>G
c.413C>G (p.Ala138Gly)
c.1358C>G (p.Ala453Gly)
c.1310C>G (p.Ala437Gly)
n.741C>G
c.350C>G (p.Ala117Gly)
c.221C>G (p.Ala74Gly)
7g.44145173G=CA1703612655GCKc.*1359C= (n.*1359C=)
c.*481C= (n.*481C=)
n.587C=
c.395C= (p.Ala132=)
c.1364C= (p.Ala455=)
c.1361C= (p.Ala454=)
c.1424C= (p.Ala475=)
n.373C=
c.413C= (p.Ala138=)
c.1358C= (p.Ala453=)
c.1310C= (p.Ala437=)
n.741C=
c.350C= (p.Ala117=)
c.221C= (p.Ala74=)
7g.44145173G>TCA16609264GCKc.*1359C>A (n.*1359C>A)
c.*481C>A (n.*481C>A)
n.587C>A
c.395C>A (p.Ala132Glu)
c.1364C>A (p.Ala455Glu)
c.1361C>A (p.Ala454Glu)
c.1424C>A (p.Ala475Glu)
n.373C>A
c.413C>A (p.Ala138Glu)
c.1358C>A (p.Ala453Glu)
c.1310C>A (p.Ala437Glu)
n.741C>A
c.350C>A (p.Ala117Glu)
c.221C>A (p.Ala74Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145173_44145174delinsGCCA1703612656GCKc.*1358_*1359delinsGC (n.*1358_*1359delinsGC)
c.*480_*481delinsGC (n.*480_*481delinsGC)
n.586_587delinsGC
c.394_395delinsGC (p.Ala132=)
c.1363_1364delinsGC (p.Ala455=)
c.1360_1361delinsGC (p.Ala454=)
c.1423_1424delinsGC (p.Ala475=)
n.372_373delinsGC
c.412_413delinsGC (p.Ala138=)
c.1357_1358delinsGC (p.Ala453=)
c.1309_1310delinsGC (p.Ala437=)
n.740_741delinsGC
c.349_350delinsGC (p.Ala117=)
c.220_221delinsGC (p.Ala74=)
7g.44145177_44145188delCA915944914GCKc.*1348_*1359del (n.*1348_*1359del)
c.*470_*481del (n.*470_*481del)
n.576_587del
c.384_395del (p.Leu129_Ala132del)
c.1353_1364del (p.Leu452_Ala455del)
c.1350_1361del (p.Leu451_Ala454del)
c.1413_1424del (p.Leu472_Ala475del)
n.362_373del
c.402_413del (p.Leu135_Ala138del)
c.1347_1358del (p.Leu450_Ala453del)
c.1299_1310del (p.Leu434_Ala437del)
n.730_741del
c.339_350del (p.Leu114_Ala117del)
c.210_221del (p.Leu71_Ala74del)
 ClinVar dbSNP
7g.44145174C>ACA367396870GCKc.*1358G>T (n.*1358G>T)
c.*480G>T (n.*480G>T)
n.586G>T
c.394G>T (p.Ala132Ser)
c.1363G>T (p.Ala455Ser)
c.1360G>T (p.Ala454Ser)
c.1423G>T (p.Ala475Ser)
n.372G>T
c.412G>T (p.Ala138Ser)
c.1357G>T (p.Ala453Ser)
c.1309G>T (p.Ala437Ser)
n.740G>T
c.349G>T (p.Ala117Ser)
c.220G>T (p.Ala74Ser)
7g.44145174C>GCA367396868GCKc.*1358G>C (n.*1358G>C)
c.*480G>C (n.*480G>C)
n.586G>C
c.394G>C (p.Ala132Pro)
c.1363G>C (p.Ala455Pro)
c.1360G>C (p.Ala454Pro)
c.1423G>C (p.Ala475Pro)
n.372G>C
c.412G>C (p.Ala138Pro)
c.1357G>C (p.Ala453Pro)
c.1309G>C (p.Ala437Pro)
n.740G>C
c.349G>C (p.Ala117Pro)
c.220G>C (p.Ala74Pro)
7g.44145174C>TCA367396867GCKc.*1358G>A (n.*1358G>A)
c.*480G>A (n.*480G>A)
n.586G>A
c.394G>A (p.Ala132Thr)
c.1363G>A (p.Ala455Thr)
c.1360G>A (p.Ala454Thr)
c.1423G>A (p.Ala475Thr)
n.372G>A
c.412G>A (p.Ala138Thr)
c.1357G>A (p.Ala453Thr)
c.1309G>A (p.Ala437Thr)
n.740G>A
c.349G>A (p.Ala117Thr)
c.220G>A (p.Ala74Thr)
7g.44145175delCA915944915GCKc.*1358del (n.*1358del)
c.*480del (n.*480del)
n.586del
c.394del (p.Ala132ArgfsTer?)
c.1363del (p.Ala455ArgfsTer?)
c.1360del (p.Ala454ArgfsTer?)
c.1423del (p.Ala475ArgfsTer?)
n.372del
c.1360del (p.Ala454ArgfsTer10)
c.412del (p.Ala138ArgfsTer?)
c.1357del (p.Ala453ArgfsTer?)
c.1309del (p.Ala437ArgfsTer?)
n.740del
c.349del (p.Ala117ArgfsTer?)
c.220del (p.Ala74ArgfsTer10)
c.220del (p.Ala74ArgfsTer?)
 ClinVar dbSNP gnomAD v4
7g.44145175C>ACA4239374GCKc.*1357G>T (n.*1357G>T)
c.*479G>T (n.*479G>T)
n.585G>T
c.393G>T (p.Ser131=)
c.1362G>T (p.Ser454=)
c.1359G>T (p.Ser453=)
c.1422G>T (p.Ser474=)
n.371G>T
c.411G>T (p.Ser137=)
c.1356G>T (p.Ser452=)
c.1308G>T (p.Ser436=)
n.739G>T
c.348G>T (p.Ser116=)
c.219G>T (p.Ser73=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145175C=CA1703612658GCKc.*1357G= (n.*1357G=)
c.*479G= (n.*479G=)
n.585G=
c.393G= (p.Ser131=)
c.1362G= (p.Ser454=)
c.1359G= (p.Ser453=)
c.1422G= (p.Ser474=)
n.371G=
c.411G= (p.Ser137=)
c.1356G= (p.Ser452=)
c.1308G= (p.Ser436=)
n.739G=
c.348G= (p.Ser116=)
c.219G= (p.Ser73=)
7g.44145175C>GCA454606348GCKc.*1357G>C (n.*1357G>C)
c.*479G>C (n.*479G>C)
n.585G>C
c.393G>C (p.Ser131=)
c.1362G>C (p.Ser454=)
c.1359G>C (p.Ser453=)
c.1422G>C (p.Ser474=)
n.371G>C
c.411G>C (p.Ser137=)
c.1356G>C (p.Ser452=)
c.1308G>C (p.Ser436=)
n.739G>C
c.348G>C (p.Ser116=)
c.219G>C (p.Ser73=)
 gnomAD v4
7g.44145175C>TCA454606349GCKc.*1357G>A (n.*1357G>A)
c.*479G>A (n.*479G>A)
n.585G>A
c.393G>A (p.Ser131=)
c.1362G>A (p.Ser454=)
c.1359G>A (p.Ser453=)
c.1422G>A (p.Ser474=)
n.371G>A
c.411G>A (p.Ser137=)
c.1356G>A (p.Ser452=)
c.1308G>A (p.Ser436=)
n.739G>A
c.348G>A (p.Ser116=)
c.219G>A (p.Ser73=)
 dbSNP gnomAD v2 gnomAD v4
7g.44145175_44145255delinsCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACCA1703612657GCKc.*1277_*1357delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (n.*1277_*1357delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG)
c.*399_*479delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (n.*399_*479delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG)
n.505_585delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG
c.313_393delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val105=)
c.1282_1362delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val428=)
c.1279_1359delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val427=)
c.1342_1422delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val448=)
n.291_371delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG
c.331_411delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val111=)
c.1276_1356delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val426=)
c.1228_1308delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val410=)
n.659_739delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG
c.268_348delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val90=)
c.139_219delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val47=)
7g.44145176G>ACA213760GCKc.*1356C>T (n.*1356C>T)
c.*478C>T (n.*478C>T)
n.584C>T
c.392C>T (p.Ser131Leu)
c.1361C>T (p.Ser454Leu)
c.1358C>T (p.Ser453Leu)
c.1421C>T (p.Ser474Leu)
n.370C>T
c.410C>T (p.Ser137Leu)
c.1355C>T (p.Ser452Leu)
c.1307C>T (p.Ser436Leu)
n.738C>T
c.347C>T (p.Ser116Leu)
c.218C>T (p.Ser73Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145176G>CCA367396875GCKc.*1356C>G (n.*1356C>G)
c.*478C>G (n.*478C>G)
n.584C>G
c.392C>G (p.Ser131Trp)
c.1361C>G (p.Ser454Trp)
c.1358C>G (p.Ser453Trp)
c.1421C>G (p.Ser474Trp)
n.370C>G
c.410C>G (p.Ser137Trp)
c.1355C>G (p.Ser452Trp)
c.1307C>G (p.Ser436Trp)
n.738C>G
c.347C>G (p.Ser116Trp)
c.218C>G (p.Ser73Trp)
 ClinVar
7g.44145176G=CA1703612659GCKc.*1356C= (n.*1356C=)
c.*478C= (n.*478C=)
n.584C=
c.392C= (p.Ser131=)
c.1361C= (p.Ser454=)
c.1358C= (p.Ser453=)
c.1421C= (p.Ser474=)
n.370C=
c.410C= (p.Ser137=)
c.1355C= (p.Ser452=)
c.1307C= (p.Ser436=)
n.738C=
c.347C= (p.Ser116=)
c.218C= (p.Ser73=)
7g.44145176G>TCA367396876GCKc.*1356C>A (n.*1356C>A)
c.*478C>A (n.*478C>A)
n.584C>A
c.392C>A (p.Ser131Ter)
c.1361C>A (p.Ser454Ter)
c.1358C>A (p.Ser453Ter)
c.1421C>A (p.Ser474Ter)
n.370C>A
c.410C>A (p.Ser137Ter)
c.1355C>A (p.Ser452Ter)
c.1307C>A (p.Ser436Ter)
n.738C>A
c.347C>A (p.Ser116Ter)
c.218C>A (p.Ser73Ter)
 ClinVar gnomAD v4
7g.44145176_44145255delinsTGTAACA213742GCKc.*1277_*1356delinsTTACA (n.*1277_*1356delinsTTACA)
c.*399_*478delinsTTACA (n.*399_*478delinsTTACA)
n.505_584delinsTTACA
c.313_392delinsTTACA (p.Val105_Ser131delinsLeuGln)
c.1282_1361delinsTTACA (p.Val428_Ser454delinsLeuGln)
c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)
c.1342_1421delinsTTACA (p.Val448_Ser474delinsLeuGln)
n.291_370delinsTTACA
c.331_410delinsTTACA (p.Val111_Ser137delinsLeuGln)
c.1276_1355delinsTTACA (p.Val426_Ser452delinsLeuGln)
c.1228_1307delinsTTACA (p.Val410_Ser436delinsLeuGln)
n.659_738delinsTTACA
c.268_347delinsTTACA (p.Val90_Ser116delinsLeuGln)
c.139_218delinsTTACA (p.Val47_Ser73delinsLeuGln)
 ClinVar dbSNP
7g.44145177A>CCA367396877GCKc.*1355T>G (n.*1355T>G)
c.*477T>G (n.*477T>G)
n.583T>G
c.391T>G (p.Ser131Ala)
c.1360T>G (p.Ser454Ala)
c.1357T>G (p.Ser453Ala)
c.1420T>G (p.Ser474Ala)
n.369T>G
c.409T>G (p.Ser137Ala)
c.1354T>G (p.Ser452Ala)
c.1306T>G (p.Ser436Ala)
n.737T>G
c.346T>G (p.Ser116Ala)
c.217T>G (p.Ser73Ala)
7g.44145177A>GCA367396879GCKc.*1355T>C (n.*1355T>C)
c.*477T>C (n.*477T>C)
n.583T>C
c.391T>C (p.Ser131Pro)
c.1360T>C (p.Ser454Pro)
c.1357T>C (p.Ser453Pro)
c.1420T>C (p.Ser474Pro)
n.369T>C
c.409T>C (p.Ser137Pro)
c.1354T>C (p.Ser452Pro)
c.1306T>C (p.Ser436Pro)
n.737T>C
c.346T>C (p.Ser116Pro)
c.217T>C (p.Ser73Pro)
7g.44145177A>TCA367396880GCKc.*1355T>A (n.*1355T>A)
c.*477T>A (n.*477T>A)
n.583T>A
c.391T>A (p.Ser131Thr)
c.1360T>A (p.Ser454Thr)
c.1357T>A (p.Ser453Thr)
c.1420T>A (p.Ser474Thr)
n.369T>A
c.409T>A (p.Ser137Thr)
c.1354T>A (p.Ser452Thr)
c.1306T>A (p.Ser436Thr)
n.737T>A
c.346T>A (p.Ser116Thr)
c.217T>A (p.Ser73Thr)
7g.44145178G>ACA454606350GCKc.*1354C>T (n.*1354C>T)
c.*476C>T (n.*476C>T)
n.582C>T
c.390C>T (p.Val130=)
c.1359C>T (p.Val453=)
c.1356C>T (p.Val452=)
c.1419C>T (p.Val473=)
n.368C>T
c.408C>T (p.Val136=)
c.1353C>T (p.Val451=)
c.1305C>T (p.Val435=)
n.736C>T
c.345C>T (p.Val115=)
c.216C>T (p.Val72=)
7g.44145178G>CCA454606351GCKc.*1354C>G (n.*1354C>G)
c.*476C>G (n.*476C>G)
n.582C>G
c.390C>G (p.Val130=)
c.1359C>G (p.Val453=)
c.1356C>G (p.Val452=)
c.1419C>G (p.Val473=)
n.368C>G
c.408C>G (p.Val136=)
c.1353C>G (p.Val451=)
c.1305C>G (p.Val435=)
n.736C>G
c.345C>G (p.Val115=)
c.216C>G (p.Val72=)
 gnomAD v4
7g.44145178G>TCA454606352GCKc.*1354C>A (n.*1354C>A)
c.*476C>A (n.*476C>A)
n.582C>A
c.390C>A (p.Val130=)
c.1359C>A (p.Val453=)
c.1356C>A (p.Val452=)
c.1419C>A (p.Val473=)
n.368C>A
c.408C>A (p.Val136=)
c.1353C>A (p.Val451=)
c.1305C>A (p.Val435=)
n.736C>A
c.345C>A (p.Val115=)
c.216C>A (p.Val72=)
 gnomAD v4
7g.44145179A>CCA367396882GCKc.*1353T>G (n.*1353T>G)
c.*475T>G (n.*475T>G)
n.581T>G
c.389T>G (p.Val130Gly)
c.1358T>G (p.Val453Gly)
c.1355T>G (p.Val452Gly)
c.1418T>G (p.Val473Gly)
n.367T>G
c.407T>G (p.Val136Gly)
c.1352T>G (p.Val451Gly)
c.1304T>G (p.Val435Gly)
n.735T>G
c.344T>G (p.Val115Gly)
c.215T>G (p.Val72Gly)
7g.44145179A>GCA367396885GCKc.*1353T>C (n.*1353T>C)
c.*475T>C (n.*475T>C)
n.581T>C
c.389T>C (p.Val130Ala)
c.1358T>C (p.Val453Ala)
c.1355T>C (p.Val452Ala)
c.1418T>C (p.Val473Ala)
n.367T>C
c.407T>C (p.Val136Ala)
c.1352T>C (p.Val451Ala)
c.1304T>C (p.Val435Ala)
n.735T>C
c.344T>C (p.Val115Ala)
c.215T>C (p.Val72Ala)
7g.44145179A>TCA367396887GCKc.*1353T>A (n.*1353T>A)
c.*475T>A (n.*475T>A)
n.581T>A
c.389T>A (p.Val130Asp)
c.1358T>A (p.Val453Asp)
c.1355T>A (p.Val452Asp)
c.1418T>A (p.Val473Asp)
n.367T>A
c.407T>A (p.Val136Asp)
c.1352T>A (p.Val451Asp)
c.1304T>A (p.Val435Asp)
n.735T>A
c.344T>A (p.Val115Asp)
c.215T>A (p.Val72Asp)
7g.44145180C>ACA367396889GCKc.*1352G>T (n.*1352G>T)
c.*474G>T (n.*474G>T)
n.580G>T
c.388G>T (p.Val130Phe)
c.1357G>T (p.Val453Phe)
c.1354G>T (p.Val452Phe)
c.1417G>T (p.Val473Phe)
n.366G>T
c.406G>T (p.Val136Phe)
c.1351G>T (p.Val451Phe)
c.1303G>T (p.Val435Phe)
n.734G>T
c.343G>T (p.Val115Phe)
c.214G>T (p.Val72Phe)
7g.44145180C>GCA367396891GCKc.*1352G>C (n.*1352G>C)
c.*474G>C (n.*474G>C)
n.580G>C
c.388G>C (p.Val130Leu)
c.1357G>C (p.Val453Leu)
c.1354G>C (p.Val452Leu)
c.1417G>C (p.Val473Leu)
n.366G>C
c.406G>C (p.Val136Leu)
c.1351G>C (p.Val451Leu)
c.1303G>C (p.Val435Leu)
n.734G>C
c.343G>C (p.Val115Leu)
c.214G>C (p.Val72Leu)
 ClinVar
7g.44145180C>TCA367396892GCKc.*1352G>A (n.*1352G>A)
c.*474G>A (n.*474G>A)
n.580G>A
c.388G>A (p.Val130Ile)
c.1357G>A (p.Val453Ile)
c.1354G>A (p.Val452Ile)
c.1417G>A (p.Val473Ile)
n.366G>A
c.406G>A (p.Val136Ile)
c.1351G>A (p.Val451Ile)
c.1303G>A (p.Val435Ile)
n.734G>A
c.343G>A (p.Val115Ile)
c.214G>A (p.Val72Ile)
 gnomAD v4
7g.44145181C>ACA454606353GCKc.*1351G>T (n.*1351G>T)
c.*473G>T (n.*473G>T)
n.579G>T
c.387G>T (p.Leu129=)
c.1356G>T (p.Leu452=)
c.1353G>T (p.Leu451=)
c.1416G>T (p.Leu472=)
n.365G>T
c.405G>T (p.Leu135=)
c.1350G>T (p.Leu450=)
c.1302G>T (p.Leu434=)
n.733G>T
c.342G>T (p.Leu114=)
c.213G>T (p.Leu71=)
 dbSNP gnomAD v2 gnomAD v4
7g.44145181C=CA1703612660GCKc.*1351G= (n.*1351G=)
c.*473G= (n.*473G=)
n.579G=
c.387G= (p.Leu129=)
c.1356G= (p.Leu452=)
c.1353G= (p.Leu451=)
c.1416G= (p.Leu472=)
n.365G=
c.405G= (p.Leu135=)
c.1350G= (p.Leu450=)
c.1302G= (p.Leu434=)
n.733G=
c.342G= (p.Leu114=)
c.213G= (p.Leu71=)
7g.44145181C>GCA454606354GCKc.*1351G>C (n.*1351G>C)
c.*473G>C (n.*473G>C)
n.579G>C
c.387G>C (p.Leu129=)
c.1356G>C (p.Leu452=)
c.1353G>C (p.Leu451=)
c.1416G>C (p.Leu472=)
n.365G>C
c.405G>C (p.Leu135=)
c.1350G>C (p.Leu450=)
c.1302G>C (p.Leu434=)
n.733G>C
c.342G>C (p.Leu114=)
c.213G>C (p.Leu71=)
7g.44145181C>TCA454606355GCKc.*1351G>A (n.*1351G>A)
c.*473G>A (n.*473G>A)
n.579G>A
c.387G>A (p.Leu129=)
c.1356G>A (p.Leu452=)
c.1353G>A (p.Leu451=)
c.1416G>A (p.Leu472=)
n.365G>A
c.405G>A (p.Leu135=)
c.1350G>A (p.Leu450=)
c.1302G>A (p.Leu434=)
n.733G>A
c.342G>A (p.Leu114=)
c.213G>A (p.Leu71=)
7g.44145182delCA2682580402GCKc.*1350del (n.*1350del)
c.*472del (n.*472del)
n.578del
c.386del (p.Leu129ArgfsTer?)
c.1355del (p.Leu452ArgfsTer?)
c.1352del (p.Leu451ArgfsTer?)
c.1415del (p.Leu472ArgfsTer?)
n.364del
c.1352del (p.Leu451ArgfsTer13)
c.404del (p.Leu135ArgfsTer?)
c.1349del (p.Leu450ArgfsTer?)
c.1301del (p.Leu434ArgfsTer?)
n.732del
c.341del (p.Leu114ArgfsTer?)
c.212del (p.Leu71ArgfsTer13)
c.212del (p.Leu71ArgfsTer?)
 gnomAD v4
7g.44145182A>CCA367396897GCKc.*1350T>G (n.*1350T>G)
c.*472T>G (n.*472T>G)
n.578T>G
c.386T>G (p.Leu129Arg)
c.1355T>G (p.Leu452Arg)
c.1352T>G (p.Leu451Arg)
c.1415T>G (p.Leu472Arg)
n.364T>G
c.404T>G (p.Leu135Arg)
c.1349T>G (p.Leu450Arg)
c.1301T>G (p.Leu434Arg)
n.732T>G
c.341T>G (p.Leu114Arg)
c.212T>G (p.Leu71Arg)
7g.44145182A>GCA367396898GCKc.*1350T>C (n.*1350T>C)
c.*472T>C (n.*472T>C)
n.578T>C
c.386T>C (p.Leu129Pro)
c.1355T>C (p.Leu452Pro)
c.1352T>C (p.Leu451Pro)
c.1415T>C (p.Leu472Pro)
n.364T>C
c.404T>C (p.Leu135Pro)
c.1349T>C (p.Leu450Pro)
c.1301T>C (p.Leu434Pro)
n.732T>C
c.341T>C (p.Leu114Pro)
c.212T>C (p.Leu71Pro)
7g.44145182A>TCA367396895GCKc.*1350T>A (n.*1350T>A)
c.*472T>A (n.*472T>A)
n.578T>A
c.386T>A (p.Leu129Gln)
c.1355T>A (p.Leu452Gln)
c.1352T>A (p.Leu451Gln)
c.1415T>A (p.Leu472Gln)
n.364T>A
c.404T>A (p.Leu135Gln)
c.1349T>A (p.Leu450Gln)
c.1301T>A (p.Leu434Gln)
n.732T>A
c.341T>A (p.Leu114Gln)
c.212T>A (p.Leu71Gln)
7g.44145183G>ACA454606356GCKc.*1349C>T (n.*1349C>T)
c.*471C>T (n.*471C>T)
n.577C>T
c.385C>T (p.Leu129=)
c.1354C>T (p.Leu452=)
c.1351C>T (p.Leu451=)
c.1414C>T (p.Leu472=)
n.363C>T
c.403C>T (p.Leu135=)
c.1348C>T (p.Leu450=)
c.1300C>T (p.Leu434=)
n.731C>T
c.340C>T (p.Leu114=)
c.211C>T (p.Leu71=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44145183G>CCA367396900GCKc.*1349C>G (n.*1349C>G)
c.*471C>G (n.*471C>G)
n.577C>G
c.385C>G (p.Leu129Val)
c.1354C>G (p.Leu452Val)
c.1351C>G (p.Leu451Val)
c.1414C>G (p.Leu472Val)
n.363C>G
c.403C>G (p.Leu135Val)
c.1348C>G (p.Leu450Val)
c.1300C>G (p.Leu434Val)
n.731C>G
c.340C>G (p.Leu114Val)
c.211C>G (p.Leu71Val)
7g.44145183G=CA1703612661GCKc.*1349C= (n.*1349C=)
c.*471C= (n.*471C=)
n.577C=
c.385C= (p.Leu129=)
c.1354C= (p.Leu452=)
c.1351C= (p.Leu451=)
c.1414C= (p.Leu472=)
n.363C=
c.403C= (p.Leu135=)
c.1348C= (p.Leu450=)
c.1300C= (p.Leu434=)
n.731C=
c.340C= (p.Leu114=)
c.211C= (p.Leu71=)
7g.44145183G>TCA367396901GCKc.*1349C>A (n.*1349C>A)
c.*471C>A (n.*471C>A)
n.577C>A
c.385C>A (p.Leu129Met)
c.1354C>A (p.Leu452Met)
c.1351C>A (p.Leu451Met)
c.1414C>A (p.Leu472Met)
n.363C>A
c.403C>A (p.Leu135Met)
c.1348C>A (p.Leu450Met)
c.1300C>A (p.Leu434Met)
n.731C>A
c.340C>A (p.Leu114Met)
c.211C>A (p.Leu71Met)
7g.44145185delCA2017997778GCKc.*1349del (n.*1349del)
c.*471del (n.*471del)
n.577del
c.385del (p.Leu129TrpfsTer?)
c.1354del (p.Leu452TrpfsTer?)
c.1351del (p.Leu451TrpfsTer?)
c.1414del (p.Leu472TrpfsTer?)
n.363del
c.1351del (p.Leu451TrpfsTer13)
c.403del (p.Leu135TrpfsTer?)
c.1348del (p.Leu450TrpfsTer?)
c.1300del (p.Leu434TrpfsTer?)
n.731del
c.340del (p.Leu114TrpfsTer?)
c.211del (p.Leu71TrpfsTer13)
c.211del (p.Leu71TrpfsTer?)
 ClinVar
7g.44145184G>ACA454606357GCKc.*1348C>T (n.*1348C>T)
c.*470C>T (n.*470C>T)
n.576C>T
c.384C>T (p.Ala128=)
c.1353C>T (p.Ala451=)
c.1350C>T (p.Ala450=)
c.1413C>T (p.Ala471=)
n.362C>T
c.402C>T (p.Ala134=)
c.1347C>T (p.Ala449=)
c.1299C>T (p.Ala433=)
n.730C>T
c.339C>T (p.Ala113=)
c.210C>T (p.Ala70=)
 dbSNP gnomAD v3 gnomAD v4
7g.44145184G>CCA454606358GCKc.*1348C>G (n.*1348C>G)
c.*470C>G (n.*470C>G)
n.576C>G
c.384C>G (p.Ala128=)
c.1353C>G (p.Ala451=)
c.1350C>G (p.Ala450=)
c.1413C>G (p.Ala471=)
n.362C>G
c.402C>G (p.Ala134=)
c.1347C>G (p.Ala449=)
c.1299C>G (p.Ala433=)
n.730C>G
c.339C>G (p.Ala113=)
c.210C>G (p.Ala70=)
7g.44145184G=CA1703612662GCKc.*1348C= (n.*1348C=)
c.*470C= (n.*470C=)
n.576C=
c.384C= (p.Ala128=)
c.1353C= (p.Ala451=)
c.1350C= (p.Ala450=)
c.1413C= (p.Ala471=)
n.362C=
c.402C= (p.Ala134=)
c.1347C= (p.Ala449=)
c.1299C= (p.Ala433=)
n.730C=
c.339C= (p.Ala113=)
c.210C= (p.Ala70=)
7g.44145184G>TCA454606359GCKc.*1348C>A (n.*1348C>A)
c.*470C>A (n.*470C>A)
n.576C>A
c.384C>A (p.Ala128=)
c.1353C>A (p.Ala451=)
c.1350C>A (p.Ala450=)
c.1413C>A (p.Ala471=)
n.362C>A
c.402C>A (p.Ala134=)
c.1347C>A (p.Ala449=)
c.1299C>A (p.Ala433=)
n.730C>A
c.339C>A (p.Ala113=)
c.210C>A (p.Ala70=)
7g.44145185G>ACA367396903GCKc.*1347C>T (n.*1347C>T)
c.*469C>T (n.*469C>T)
n.575C>T
c.383C>T (p.Ala128Val)
c.1352C>T (p.Ala451Val)
c.1349C>T (p.Ala450Val)
c.1412C>T (p.Ala471Val)
n.361C>T
c.401C>T (p.Ala134Val)
c.1346C>T (p.Ala449Val)
c.1298C>T (p.Ala433Val)
n.729C>T
c.338C>T (p.Ala113Val)
c.209C>T (p.Ala70Val)
 ClinVar
7g.44145185G>CCA367396905GCKc.*1347C>G (n.*1347C>G)
c.*469C>G (n.*469C>G)
n.575C>G
c.383C>G (p.Ala128Gly)
c.1352C>G (p.Ala451Gly)
c.1349C>G (p.Ala450Gly)
c.1412C>G (p.Ala471Gly)
n.361C>G
c.401C>G (p.Ala134Gly)
c.1346C>G (p.Ala449Gly)
c.1298C>G (p.Ala433Gly)
n.729C>G
c.338C>G (p.Ala113Gly)
c.209C>G (p.Ala70Gly)
7g.44145185G>TCA367396907GCKc.*1347C>A (n.*1347C>A)
c.*469C>A (n.*469C>A)
n.575C>A
c.383C>A (p.Ala128Asp)
c.1352C>A (p.Ala451Asp)
c.1349C>A (p.Ala450Asp)
c.1412C>A (p.Ala471Asp)
n.361C>A
c.401C>A (p.Ala134Asp)
c.1346C>A (p.Ala449Asp)
c.1298C>A (p.Ala433Asp)
n.729C>A
c.338C>A (p.Ala113Asp)
c.209C>A (p.Ala70Asp)
7g.44145186C>ACA367396909GCKc.*1346G>T (n.*1346G>T)
c.*468G>T (n.*468G>T)
n.574G>T
c.382G>T (p.Ala128Ser)
c.1351G>T (p.Ala451Ser)
c.1348G>T (p.Ala450Ser)
c.1411G>T (p.Ala471Ser)
n.360G>T
c.400G>T (p.Ala134Ser)
c.1345G>T (p.Ala449Ser)
c.1297G>T (p.Ala433Ser)
n.728G>T
c.337G>T (p.Ala113Ser)
c.208G>T (p.Ala70Ser)
 ClinVar
7g.44145186C>GCA367396911GCKc.*1346G>C (n.*1346G>C)
c.*468G>C (n.*468G>C)
n.574G>C
c.382G>C (p.Ala128Pro)
c.1351G>C (p.Ala451Pro)
c.1348G>C (p.Ala450Pro)
c.1411G>C (p.Ala471Pro)
n.360G>C
c.400G>C (p.Ala134Pro)
c.1345G>C (p.Ala449Pro)
c.1297G>C (p.Ala433Pro)
n.728G>C
c.337G>C (p.Ala113Pro)
c.208G>C (p.Ala70Pro)
7g.44145186C>TCA367396913GCKc.*1346G>A (n.*1346G>A)
c.*468G>A (n.*468G>A)
n.574G>A
c.382G>A (p.Ala128Thr)
c.1351G>A (p.Ala451Thr)
c.1348G>A (p.Ala450Thr)
c.1411G>A (p.Ala471Thr)
n.360G>A
c.400G>A (p.Ala134Thr)
c.1345G>A (p.Ala449Thr)
c.1297G>A (p.Ala433Thr)
n.728G>A
c.337G>A (p.Ala113Thr)
c.208G>A (p.Ala70Thr)
7g.44145187delCA2017997777GCKc.*1346del (n.*1346del)
c.*468del (n.*468del)
n.574del
c.382del (p.Ala128ProfsTer?)
c.1351del (p.Ala451ProfsTer?)
c.1348del (p.Ala450ProfsTer?)
c.1411del (p.Ala471ProfsTer?)
n.360del
c.1348del (p.Ala450ProfsTer14)
c.400del (p.Ala134ProfsTer?)
c.1345del (p.Ala449ProfsTer?)
c.1297del (p.Ala433ProfsTer?)
n.728del
c.337del (p.Ala113ProfsTer?)
c.208del (p.Ala70ProfsTer14)
c.208del (p.Ala70ProfsTer?)
 ClinVar
7g.44145187C>ACA454606361GCKc.*1345G>T (n.*1345G>T)
c.*467G>T (n.*467G>T)
n.573G>T
c.381G>T (p.Ala127=)
c.1350G>T (p.Ala450=)
c.1347G>T (p.Ala449=)
c.1410G>T (p.Ala470=)
n.359G>T
c.399G>T (p.Ala133=)
c.1344G>T (p.Ala448=)
c.1296G>T (p.Ala432=)
n.727G>T
c.336G>T (p.Ala112=)
c.207G>T (p.Ala69=)
7g.44145187C=CA1703612663GCKc.*1345G= (n.*1345G=)
c.*467G= (n.*467G=)
n.573G=
c.381G= (p.Ala127=)
c.1350G= (p.Ala450=)
c.1347G= (p.Ala449=)
c.1410G= (p.Ala470=)
n.359G=
c.399G= (p.Ala133=)
c.1344G= (p.Ala448=)
c.1296G= (p.Ala432=)
n.727G=
c.336G= (p.Ala112=)
c.207G= (p.Ala69=)
7g.44145187C>GCA454606362GCKc.*1345G>C (n.*1345G>C)
c.*467G>C (n.*467G>C)
n.573G>C
c.381G>C (p.Ala127=)
c.1350G>C (p.Ala450=)
c.1347G>C (p.Ala449=)
c.1410G>C (p.Ala470=)
n.359G>C
c.399G>C (p.Ala133=)
c.1344G>C (p.Ala448=)
c.1296G>C (p.Ala432=)
n.727G>C
c.336G>C (p.Ala112=)
c.207G>C (p.Ala69=)
7g.44145187C>TCA454606363GCKc.*1345G>A (n.*1345G>A)
c.*467G>A (n.*467G>A)
n.573G>A
c.381G>A (p.Ala127=)
c.1350G>A (p.Ala450=)
c.1347G>A (p.Ala449=)
c.1410G>A (p.Ala470=)
n.359G>A
c.399G>A (p.Ala133=)
c.1344G>A (p.Ala448=)
c.1296G>A (p.Ala432=)
n.727G>A
c.336G>A (p.Ala112=)
c.207G>A (p.Ala69=)
 dbSNP gnomAD v4
7g.44145190_44145191dupCA2695202951GCKc.*1344_*1345dup (n.*1344_*1345dup)
c.*466_*467dup (n.*466_*467dup)
n.572_573dup
c.380_381dup (p.Ala128ArgfsTer?)
c.1349_1350dup (p.Ala451ArgfsTer?)
c.1346_1347dup (p.Ala450ArgfsTer?)
c.1409_1410dup (p.Ala471ArgfsTer?)
n.358_359dup
c.1346_1347dup (p.Ala450ArgfsTer15)
c.398_399dup (p.Ala134ArgfsTer?)
c.1343_1344dup (p.Ala449ArgfsTer?)
c.1295_1296dup (p.Ala433ArgfsTer?)
n.726_727dup
c.335_336dup (p.Ala113ArgfsTer?)
c.206_207dup (p.Ala70ArgfsTer15)
c.206_207dup (p.Ala70ArgfsTer?)
7g.44145190_44145191delCA2573105963GCKc.*1344_*1345del (n.*1344_*1345del)
c.*466_*467del (n.*466_*467del)
n.572_573del
c.380_381del (p.Ala127GlyfsTer9)
c.1349_1350del (p.Ala450GlyfsTer9)
c.1346_1347del (p.Ala449GlyfsTer9)
c.1409_1410del (p.Ala470GlyfsTer9)
n.358_359del
c.1346_1347del (p.Ala449GlyfsTer22)
c.398_399del (p.Ala133GlyfsTer9)
c.1343_1344del (p.Ala448GlyfsTer9)
c.1295_1296del (p.Ala432GlyfsTer9)
n.726_727del
c.335_336del (p.Ala112GlyfsTer9)
c.206_207del (p.Ala69GlyfsTer22)
c.206_207del (p.Ala69GlyfsTer9)
 ClinVar
7g.44145188G>ACA367396916GCKc.*1344C>T (n.*1344C>T)
c.*466C>T (n.*466C>T)
n.572C>T
c.380C>T (p.Ala127Val)
c.1349C>T (p.Ala450Val)
c.1346C>T (p.Ala449Val)
c.1409C>T (p.Ala470Val)
n.358C>T
c.398C>T (p.Ala133Val)
c.1343C>T (p.Ala448Val)
c.1295C>T (p.Ala432Val)
n.726C>T
c.335C>T (p.Ala112Val)
c.206C>T (p.Ala69Val)
 dbSNP gnomAD v2 gnomAD v4
7g.44145188G>CCA367396917GCKc.*1344C>G (n.*1344C>G)
c.*466C>G (n.*466C>G)
n.572C>G
c.380C>G (p.Ala127Gly)
c.1349C>G (p.Ala450Gly)
c.1346C>G (p.Ala449Gly)
c.1409C>G (p.Ala470Gly)
n.358C>G
c.398C>G (p.Ala133Gly)
c.1343C>G (p.Ala448Gly)
c.1295C>G (p.Ala432Gly)
n.726C>G
c.335C>G (p.Ala112Gly)
c.206C>G (p.Ala69Gly)
 gnomAD v4
7g.44145188G=CA1703612664GCKc.*1344C= (n.*1344C=)
c.*466C= (n.*466C=)
n.572C=
c.380C= (p.Ala127=)
c.1349C= (p.Ala450=)
c.1346C= (p.Ala449=)
c.1409C= (p.Ala470=)
n.358C=
c.398C= (p.Ala133=)
c.1343C= (p.Ala448=)
c.1295C= (p.Ala432=)
n.726C=
c.335C= (p.Ala112=)
c.206C= (p.Ala69=)
7g.44145188G>TCA367396919GCKc.*1344C>A (n.*1344C>A)
c.*466C>A (n.*466C>A)
n.572C>A
c.380C>A (p.Ala127Glu)
c.1349C>A (p.Ala450Glu)
c.1346C>A (p.Ala449Glu)
c.1409C>A (p.Ala470Glu)
n.358C>A
c.398C>A (p.Ala133Glu)
c.1343C>A (p.Ala448Glu)
c.1295C>A (p.Ala432Glu)
n.726C>A
c.335C>A (p.Ala112Glu)
c.206C>A (p.Ala69Glu)
 gnomAD v4
7g.44145189C>ACA367396925GCKc.*1343G>T (n.*1343G>T)
c.*465G>T (n.*465G>T)
n.571G>T
c.379G>T (p.Ala127Ser)
c.1348G>T (p.Ala450Ser)
c.1345G>T (p.Ala449Ser)
c.1408G>T (p.Ala470Ser)
n.357G>T
c.397G>T (p.Ala133Ser)
c.1342G>T (p.Ala448Ser)
c.1294G>T (p.Ala432Ser)
n.725G>T
c.334G>T (p.Ala112Ser)
c.205G>T (p.Ala69Ser)
7g.44145189C=CA1703612665GCKc.*1343G= (n.*1343G=)
c.*465G= (n.*465G=)
n.571G=
c.379G= (p.Ala127=)
c.1348G= (p.Ala450=)
c.1345G= (p.Ala449=)
c.1408G= (p.Ala470=)
n.357G=
c.397G= (p.Ala133=)
c.1342G= (p.Ala448=)
c.1294G= (p.Ala432=)
n.725G=
c.334G= (p.Ala112=)
c.205G= (p.Ala69=)
7g.44145189C>GCA367396923GCKc.*1343G>C (n.*1343G>C)
c.*465G>C (n.*465G>C)
n.571G>C
c.379G>C (p.Ala127Pro)
c.1348G>C (p.Ala450Pro)
c.1345G>C (p.Ala449Pro)
c.1408G>C (p.Ala470Pro)
n.357G>C
c.397G>C (p.Ala133Pro)
c.1342G>C (p.Ala448Pro)
c.1294G>C (p.Ala432Pro)
n.725G>C
c.334G>C (p.Ala112Pro)
c.205G>C (p.Ala69Pro)
7g.44145189C>TCA213758GCKc.*1343G>A (n.*1343G>A)
c.*465G>A (n.*465G>A)
n.571G>A
c.379G>A (p.Ala127Thr)
c.1348G>A (p.Ala450Thr)
c.1345G>A (p.Ala449Thr)
c.1408G>A (p.Ala470Thr)
n.357G>A
c.397G>A (p.Ala133Thr)
c.1342G>A (p.Ala448Thr)
c.1294G>A (p.Ala432Thr)
n.725G>A
c.334G>A (p.Ala112Thr)
c.205G>A (p.Ala69Thr)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
7g.44145189_44145190delinsCGCA1703612666GCKc.*1342_*1343delinsCG (n.*1342_*1343delinsCG)
c.*464_*465delinsCG (n.*464_*465delinsCG)
n.570_571delinsCG
c.378_379delinsCG (p.Gly126=)
c.1347_1348delinsCG (p.Gly449=)
c.1344_1345delinsCG (p.Gly448=)
c.1407_1408delinsCG (p.Gly469=)
n.356_357delinsCG
c.396_397delinsCG (p.Gly132=)
c.1341_1342delinsCG (p.Gly447=)
c.1293_1294delinsCG (p.Gly431=)
n.724_725delinsCG
c.333_334delinsCG (p.Gly111=)
c.204_205delinsCG (p.Gly68=)
7g.44145190_44145200delCA2017997773GCKc.*1333_*1343del (n.*1333_*1343del)
c.*455_*465del (n.*455_*465del)
n.561_571del
c.369_379del (p.Arg125ProfsTer8)
c.1338_1348del (p.Arg448ProfsTer8)
c.1335_1345del (p.Arg447ProfsTer8)
c.1398_1408del (p.Arg468ProfsTer8)
n.347_357del
c.1335_1345del (p.Arg447ProfsTer21)
c.387_397del (p.Arg131ProfsTer8)
c.1332_1342del (p.Arg446ProfsTer8)
c.1284_1294del (p.Arg430ProfsTer8)
n.715_725del
c.324_334del (p.Arg110ProfsTer8)
c.195_205del (p.Arg67ProfsTer21)
c.195_205del (p.Arg67ProfsTer8)
 ClinVar
7g.44145190delCA16609265GCKc.*1342del (n.*1342del)
c.*464del (n.*464del)
n.570del
c.378del (p.Ala127ArgfsTer?)
c.1347del (p.Ala450ArgfsTer?)
c.1344del (p.Ala449ArgfsTer?)
c.1407del (p.Ala470ArgfsTer?)
n.356del
c.1344del (p.Ala449ArgfsTer15)
c.396del (p.Ala133ArgfsTer?)
c.1341del (p.Ala448ArgfsTer?)
c.1293del (p.Ala432ArgfsTer?)
n.724del
c.333del (p.Ala112ArgfsTer?)
c.204del (p.Ala69ArgfsTer15)
c.204del (p.Ala69ArgfsTer?)
 ClinVar dbSNP
7g.44145190G>ACA454606373GCKc.*1342C>T (n.*1342C>T)
c.*464C>T (n.*464C>T)
n.570C>T
c.378C>T (p.Gly126=)
c.1347C>T (p.Gly449=)
c.1344C>T (p.Gly448=)
c.1407C>T (p.Gly469=)
n.356C>T
c.396C>T (p.Gly132=)
c.1341C>T (p.Gly447=)
c.1293C>T (p.Gly431=)
n.724C>T
c.333C>T (p.Gly111=)
c.204C>T (p.Gly68=)
 gnomAD v4 COSMIC COSMIC COSMIC
7g.44145190G>CCA4239375GCKc.*1342C>G (n.*1342C>G)
c.*464C>G (n.*464C>G)
n.570C>G
c.378C>G (p.Gly126=)
c.1347C>G (p.Gly449=)
c.1344C>G (p.Gly448=)
c.1407C>G (p.Gly469=)
n.356C>G
c.396C>G (p.Gly132=)
c.1341C>G (p.Gly447=)
c.1293C>G (p.Gly431=)
n.724C>G
c.333C>G (p.Gly111=)
c.204C>G (p.Gly68=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145190G=CA1703612667GCKc.*1342C= (n.*1342C=)
c.*464C= (n.*464C=)
n.570C=
c.378C= (p.Gly126=)
c.1347C= (p.Gly449=)
c.1344C= (p.Gly448=)
c.1407C= (p.Gly469=)
n.356C=
c.396C= (p.Gly132=)
c.1341C= (p.Gly447=)
c.1293C= (p.Gly431=)
n.724C=
c.333C= (p.Gly111=)
c.204C= (p.Gly68=)
7g.44145190G>TCA454606377GCKc.*1342C>A (n.*1342C>A)
c.*464C>A (n.*464C>A)
n.570C>A
c.378C>A (p.Gly126=)
c.1347C>A (p.Gly449=)
c.1344C>A (p.Gly448=)
c.1407C>A (p.Gly469=)
n.356C>A
c.396C>A (p.Gly132=)
c.1341C>A (p.Gly447=)
c.1293C>A (p.Gly431=)
n.724C>A
c.333C>A (p.Gly111=)
c.204C>A (p.Gly68=)
 COSMIC COSMIC COSMIC
7g.44145191C>ACA367396928GCKc.*1341G>T (n.*1341G>T)
c.*463G>T (n.*463G>T)
n.569G>T
c.377G>T (p.Gly126Val)
c.1346G>T (p.Gly449Val)
c.1343G>T (p.Gly448Val)
c.1406G>T (p.Gly469Val)
n.355G>T
c.395G>T (p.Gly132Val)
c.1340G>T (p.Gly447Val)
c.1292G>T (p.Gly431Val)
n.723G>T
c.332G>T (p.Gly111Val)
c.203G>T (p.Gly68Val)
7g.44145191C>GCA367396930GCKc.*1341G>C (n.*1341G>C)
c.*463G>C (n.*463G>C)
n.569G>C
c.377G>C (p.Gly126Ala)
c.1346G>C (p.Gly449Ala)
c.1343G>C (p.Gly448Ala)
c.1406G>C (p.Gly469Ala)
n.355G>C
c.395G>C (p.Gly132Ala)
c.1340G>C (p.Gly447Ala)
c.1292G>C (p.Gly431Ala)
n.723G>C
c.332G>C (p.Gly111Ala)
c.203G>C (p.Gly68Ala)
7g.44145191C>TCA367396932GCKc.*1341G>A (n.*1341G>A)
c.*463G>A (n.*463G>A)
n.569G>A
c.377G>A (p.Gly126Asp)
c.1346G>A (p.Gly449Asp)
c.1343G>A (p.Gly448Asp)
c.1406G>A (p.Gly469Asp)
n.355G>A
c.395G>A (p.Gly132Asp)
c.1340G>A (p.Gly447Asp)
c.1292G>A (p.Gly431Asp)
n.723G>A
c.332G>A (p.Gly111Asp)
c.203G>A (p.Gly68Asp)
7g.44145191_44145194delinsAGACCAGCA2695202954GCKc.*1338_*1341delinsCTGGTCT (n.*1338_*1341delinsCTGGTCT)
c.*460_*463delinsCTGGTCT (n.*460_*463delinsCTGGTCT)
n.566_569delinsCTGGTCT
c.374_377delinsCTGGTCT (p.Arg125_Gly126delinsProGlyLeu)
c.1343_1346delinsCTGGTCT (p.Arg448_Gly449delinsProGlyLeu)
c.1340_1343delinsCTGGTCT (p.Arg447_Gly448delinsProGlyLeu)
c.1403_1406delinsCTGGTCT (p.Arg468_Gly469delinsProGlyLeu)
n.352_355delinsCTGGTCT
c.392_395delinsCTGGTCT (p.Arg131_Gly132delinsProGlyLeu)
c.1337_1340delinsCTGGTCT (p.Arg446_Gly447delinsProGlyLeu)
c.1289_1292delinsCTGGTCT (p.Arg430_Gly431delinsProGlyLeu)
n.720_723delinsCTGGTCT
c.329_332delinsCTGGTCT (p.Arg110_Gly111delinsProGlyLeu)
c.200_203delinsCTGGTCT (p.Arg67_Gly68delinsProGlyLeu)
7g.44145194dupCA2695202953GCKc.*1341dup (n.*1341dup)
c.*463dup (n.*463dup)
n.569dup
c.377dup (p.Ala127ArgfsTer10)
c.1346dup (p.Ala450ArgfsTer10)
c.1343dup (p.Ala449ArgfsTer10)
c.1406dup (p.Ala470ArgfsTer10)
n.355dup
c.1343dup (p.Ala449ArgfsTer23)
c.395dup (p.Ala133ArgfsTer10)
c.1340dup (p.Ala448ArgfsTer10)
c.1292dup (p.Ala432ArgfsTer10)
n.723dup
c.332dup (p.Ala112ArgfsTer10)
c.203dup (p.Ala69ArgfsTer23)
c.203dup (p.Ala69ArgfsTer10)
7g.44145194delCA2017997775GCKc.*1341del (n.*1341del)
c.*463del (n.*463del)
n.569del
c.377del (p.Gly126AlafsTer?)
c.1346del (p.Gly449AlafsTer?)
c.1343del (p.Gly448AlafsTer?)
c.1406del (p.Gly469AlafsTer?)
n.355del
c.1343del (p.Gly448AlafsTer16)
c.395del (p.Gly132AlafsTer?)
c.1340del (p.Gly447AlafsTer?)
c.1292del (p.Gly431AlafsTer?)
n.723del
c.332del (p.Gly111AlafsTer?)
c.203del (p.Gly68AlafsTer16)
c.203del (p.Gly68AlafsTer?)
 ClinVar
7g.44145192C>ACA367396933GCKc.*1340G>T (n.*1340G>T)
c.*462G>T (n.*462G>T)
n.568G>T
c.376G>T (p.Gly126Cys)
c.1345G>T (p.Gly449Cys)
c.1342G>T (p.Gly448Cys)
c.1405G>T (p.Gly469Cys)
n.354G>T
c.394G>T (p.Gly132Cys)
c.1339G>T (p.Gly447Cys)
c.1291G>T (p.Gly431Cys)
n.722G>T
c.331G>T (p.Gly111Cys)
c.202G>T (p.Gly68Cys)
7g.44145192C>GCA367396934GCKc.*1340G>C (n.*1340G>C)
c.*462G>C (n.*462G>C)
n.568G>C
c.376G>C (p.Gly126Arg)
c.1345G>C (p.Gly449Arg)
c.1342G>C (p.Gly448Arg)
c.1405G>C (p.Gly469Arg)
n.354G>C
c.394G>C (p.Gly132Arg)
c.1339G>C (p.Gly447Arg)
c.1291G>C (p.Gly431Arg)
n.722G>C
c.331G>C (p.Gly111Arg)
c.202G>C (p.Gly68Arg)
7g.44145192C>TCA367396935GCKc.*1340G>A (n.*1340G>A)
c.*462G>A (n.*462G>A)
n.568G>A
c.376G>A (p.Gly126Ser)
c.1345G>A (p.Gly449Ser)
c.1342G>A (p.Gly448Ser)
c.1405G>A (p.Gly469Ser)
n.354G>A
c.394G>A (p.Gly132Ser)
c.1339G>A (p.Gly447Ser)
c.1291G>A (p.Gly431Ser)
n.722G>A
c.331G>A (p.Gly111Ser)
c.202G>A (p.Gly68Ser)
7g.44145193C>ACA454606389GCKc.*1339G>T (n.*1339G>T)
c.*461G>T (n.*461G>T)
n.567G>T
c.375G>T (p.Arg125=)
c.1344G>T (p.Arg448=)
c.1341G>T (p.Arg447=)
c.1404G>T (p.Arg468=)
n.353G>T
c.393G>T (p.Arg131=)
c.1338G>T (p.Arg446=)
c.1290G>T (p.Arg430=)
n.721G>T
c.330G>T (p.Arg110=)
c.201G>T (p.Arg67=)
7g.44145193C>GCA454606391GCKc.*1339G>C (n.*1339G>C)
c.*461G>C (n.*461G>C)
n.567G>C
c.375G>C (p.Arg125=)
c.1344G>C (p.Arg448=)
c.1341G>C (p.Arg447=)
c.1404G>C (p.Arg468=)
n.353G>C
c.393G>C (p.Arg131=)
c.1338G>C (p.Arg446=)
c.1290G>C (p.Arg430=)
n.721G>C
c.330G>C (p.Arg110=)
c.201G>C (p.Arg67=)
7g.44145193C>TCA454606393GCKc.*1339G>A (n.*1339G>A)
c.*461G>A (n.*461G>A)
n.567G>A
c.375G>A (p.Arg125=)
c.1344G>A (p.Arg448=)
c.1341G>A (p.Arg447=)
c.1404G>A (p.Arg468=)
n.353G>A
c.393G>A (p.Arg131=)
c.1338G>A (p.Arg446=)
c.1290G>A (p.Arg430=)
n.721G>A
c.330G>A (p.Arg110=)
c.201G>A (p.Arg67=)
7g.44145194C>ACA367396937GCKc.*1338G>T (n.*1338G>T)
c.*460G>T (n.*460G>T)
n.566G>T
c.374G>T (p.Arg125Leu)
c.1343G>T (p.Arg448Leu)
c.1340G>T (p.Arg447Leu)
c.1403G>T (p.Arg468Leu)
n.352G>T
c.392G>T (p.Arg131Leu)
c.1337G>T (p.Arg446Leu)
c.1289G>T (p.Arg430Leu)
n.720G>T
c.329G>T (p.Arg110Leu)
c.200G>T (p.Arg67Leu)
 gnomAD v4
7g.44145194C=CA1703612669GCKc.*1338G= (n.*1338G=)
c.*460G= (n.*460G=)
n.566G=
c.374G= (p.Arg125=)
c.1343G= (p.Arg448=)
c.1340G= (p.Arg447=)
c.1403G= (p.Arg468=)
n.352G=
c.392G= (p.Arg131=)
c.1337G= (p.Arg446=)
c.1289G= (p.Arg430=)
n.720G=
c.329G= (p.Arg110=)
c.200G= (p.Arg67=)
7g.44145194C>GCA367396939GCKc.*1338G>C (n.*1338G>C)
c.*460G>C (n.*460G>C)
n.566G>C
c.374G>C (p.Arg125Pro)
c.1343G>C (p.Arg448Pro)
c.1340G>C (p.Arg447Pro)
c.1403G>C (p.Arg468Pro)
n.352G>C
c.392G>C (p.Arg131Pro)
c.1337G>C (p.Arg446Pro)
c.1289G>C (p.Arg430Pro)
n.720G>C
c.329G>C (p.Arg110Pro)
c.200G>C (p.Arg67Pro)
 ClinVar dbSNP
7g.44145194C>TCA367396940GCKc.*1338G>A (n.*1338G>A)
c.*460G>A (n.*460G>A)
n.566G>A
c.374G>A (p.Arg125Gln)
c.1343G>A (p.Arg448Gln)
c.1340G>A (p.Arg447Gln)
c.1403G>A (p.Arg468Gln)
n.352G>A
c.392G>A (p.Arg131Gln)
c.1337G>A (p.Arg446Gln)
c.1289G>A (p.Arg430Gln)
n.720G>A
c.329G>A (p.Arg110Gln)
c.200G>A (p.Arg67Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145194_44145195delinsCGCA1703612668GCKc.*1337_*1338delinsCG (n.*1337_*1338delinsCG)
c.*459_*460delinsCG (n.*459_*460delinsCG)
n.565_566delinsCG
c.373_374delinsCG (p.Arg125=)
c.1342_1343delinsCG (p.Arg448=)
c.1339_1340delinsCG (p.Arg447=)
c.1402_1403delinsCG (p.Arg468=)
n.351_352delinsCG
c.391_392delinsCG (p.Arg131=)
c.1336_1337delinsCG (p.Arg446=)
c.1288_1289delinsCG (p.Arg430=)
n.719_720delinsCG
c.328_329delinsCG (p.Arg110=)
c.199_200delinsCG (p.Arg67=)
7g.44145195G>ACA367396942GCKc.*1337C>T (n.*1337C>T)
c.*459C>T (n.*459C>T)
n.565C>T
c.373C>T (p.Arg125Trp)
c.1342C>T (p.Arg448Trp)
c.1339C>T (p.Arg447Trp)
c.1402C>T (p.Arg468Trp)
n.351C>T
c.391C>T (p.Arg131Trp)
c.1336C>T (p.Arg446Trp)
c.1288C>T (p.Arg430Trp)
n.719C>T
c.328C>T (p.Arg110Trp)
c.199C>T (p.Arg67Trp)
 gnomAD v4
7g.44145195G>CCA213756GCKc.*1337C>G (n.*1337C>G)
c.*459C>G (n.*459C>G)
n.565C>G
c.373C>G (p.Arg125Gly)
c.1342C>G (p.Arg448Gly)
c.1339C>G (p.Arg447Gly)
c.1402C>G (p.Arg468Gly)
n.351C>G
c.391C>G (p.Arg131Gly)
c.1336C>G (p.Arg446Gly)
c.1288C>G (p.Arg430Gly)
n.719C>G
c.328C>G (p.Arg110Gly)
c.199C>G (p.Arg67Gly)
 ClinVar dbSNP
7g.44145195G=CA1703612670GCKc.*1337C= (n.*1337C=)
c.*459C= (n.*459C=)
n.565C=
c.373C= (p.Arg125=)
c.1342C= (p.Arg448=)
c.1339C= (p.Arg447=)
c.1402C= (p.Arg468=)
n.351C=
c.391C= (p.Arg131=)
c.1336C= (p.Arg446=)
c.1288C= (p.Arg430=)
n.719C=
c.328C= (p.Arg110=)
c.199C= (p.Arg67=)
7g.44145195G>TCA454606404GCKc.*1337C>A (n.*1337C>A)
c.*459C>A (n.*459C>A)
n.565C>A
c.373C>A (p.Arg125=)
c.1342C>A (p.Arg448=)
c.1339C>A (p.Arg447=)
c.1402C>A (p.Arg468=)
n.351C>A
c.391C>A (p.Arg131=)
c.1336C>A (p.Arg446=)
c.1288C>A (p.Arg430=)
n.719C>A
c.328C>A (p.Arg110=)
c.199C>A (p.Arg67=)
 gnomAD v4
7g.44145196dupCA2017997774GCKc.*1337dup (n.*1337dup)
c.*459dup (n.*459dup)
n.565dup
c.373dup (p.Arg125ProfsTer12)
c.1342dup (p.Arg448ProfsTer12)
c.1339dup (p.Arg447ProfsTer12)
c.1402dup (p.Arg468ProfsTer12)
n.351dup
c.1339dup (p.Arg447ProfsTer25)
c.391dup (p.Arg131ProfsTer12)
c.1336dup (p.Arg446ProfsTer12)
c.1288dup (p.Arg430ProfsTer12)
n.719dup
c.328dup (p.Arg110ProfsTer12)
c.199dup (p.Arg67ProfsTer25)
c.199dup (p.Arg67ProfsTer12)
 ClinVar
7g.44145196delCA16618465GCKc.*1337del (n.*1337del)
c.*459del (n.*459del)
n.565del
c.373del (p.Arg125GlyfsTer?)
c.1342del (p.Arg448GlyfsTer?)
c.1339del (p.Arg447GlyfsTer?)
c.1402del (p.Arg468GlyfsTer?)
n.351del
c.1339del (p.Arg447GlyfsTer17)
c.391del (p.Arg131GlyfsTer?)
c.1336del (p.Arg446GlyfsTer?)
c.1288del (p.Arg430GlyfsTer?)
n.719del
c.328del (p.Arg110GlyfsTer?)
c.199del (p.Arg67GlyfsTer17)
c.199del (p.Arg67GlyfsTer?)
 ClinVar dbSNP
7g.44145196G>ACA454606408GCKc.*1336C>T (n.*1336C>T)
c.*458C>T (n.*458C>T)
n.564C>T
c.372C>T (p.Gly124=)
c.1341C>T (p.Gly447=)
c.1338C>T (p.Gly446=)
c.1401C>T (p.Gly467=)
n.350C>T
c.390C>T (p.Gly130=)
c.1335C>T (p.Gly445=)
c.1287C>T (p.Gly429=)
n.718C>T
c.327C>T (p.Gly109=)
c.198C>T (p.Gly66=)
 gnomAD v4 COSMIC COSMIC COSMIC
7g.44145196G>CCA454606420GCKc.*1336C>G (n.*1336C>G)
c.*458C>G (n.*458C>G)
n.564C>G
c.372C>G (p.Gly124=)
c.1341C>G (p.Gly447=)
c.1338C>G (p.Gly446=)
c.1401C>G (p.Gly467=)
n.350C>G
c.390C>G (p.Gly130=)
c.1335C>G (p.Gly445=)
c.1287C>G (p.Gly429=)
n.718C>G
c.327C>G (p.Gly109=)
c.198C>G (p.Gly66=)
7g.44145196G>TCA454606423GCKc.*1336C>A (n.*1336C>A)
c.*458C>A (n.*458C>A)
n.564C>A
c.372C>A (p.Gly124=)
c.1341C>A (p.Gly447=)
c.1338C>A (p.Gly446=)
c.1401C>A (p.Gly467=)
n.350C>A
c.390C>A (p.Gly130=)
c.1335C>A (p.Gly445=)
c.1287C>A (p.Gly429=)
n.718C>A
c.327C>A (p.Gly109=)
c.198C>A (p.Gly66=)
 gnomAD v4
7g.44145197C>ACA367396947GCKc.*1335G>T (n.*1335G>T)
c.*457G>T (n.*457G>T)
n.563G>T
c.371G>T (p.Gly124Val)
c.1340G>T (p.Gly447Val)
c.1337G>T (p.Gly446Val)
c.1400G>T (p.Gly467Val)
n.349G>T
c.389G>T (p.Gly130Val)
c.1334G>T (p.Gly445Val)
c.1286G>T (p.Gly429Val)
n.717G>T
c.326G>T (p.Gly109Val)
c.197G>T (p.Gly66Val)
7g.44145197C>GCA367396949GCKc.*1335G>C (n.*1335G>C)
c.*457G>C (n.*457G>C)
n.563G>C
c.371G>C (p.Gly124Ala)
c.1340G>C (p.Gly447Ala)
c.1337G>C (p.Gly446Ala)
c.1400G>C (p.Gly467Ala)
n.349G>C
c.389G>C (p.Gly130Ala)
c.1334G>C (p.Gly445Ala)
c.1286G>C (p.Gly429Ala)
n.717G>C
c.326G>C (p.Gly109Ala)
c.197G>C (p.Gly66Ala)
7g.44145197C>TCA367396948GCKc.*1335G>A (n.*1335G>A)
c.*457G>A (n.*457G>A)
n.563G>A
c.371G>A (p.Gly124Asp)
c.1340G>A (p.Gly447Asp)
c.1337G>A (p.Gly446Asp)
c.1400G>A (p.Gly467Asp)
n.349G>A
c.389G>A (p.Gly130Asp)
c.1334G>A (p.Gly445Asp)
c.1286G>A (p.Gly429Asp)
n.717G>A
c.326G>A (p.Gly109Asp)
c.197G>A (p.Gly66Asp)
7g.44145198C>ACA367396952GCKc.*1334G>T (n.*1334G>T)
c.*456G>T (n.*456G>T)
n.562G>T
c.370G>T (p.Gly124Cys)
c.1339G>T (p.Gly447Cys)
c.1336G>T (p.Gly446Cys)
c.1399G>T (p.Gly467Cys)
n.348G>T
c.388G>T (p.Gly130Cys)
c.1333G>T (p.Gly445Cys)
c.1285G>T (p.Gly429Cys)
n.716G>T
c.325G>T (p.Gly109Cys)
c.196G>T (p.Gly66Cys)
7g.44145198C>GCA367396955GCKc.*1334G>C (n.*1334G>C)
c.*456G>C (n.*456G>C)
n.562G>C
c.370G>C (p.Gly124Arg)
c.1339G>C (p.Gly447Arg)
c.1336G>C (p.Gly446Arg)
c.1399G>C (p.Gly467Arg)
n.348G>C
c.388G>C (p.Gly130Arg)
c.1333G>C (p.Gly445Arg)
c.1285G>C (p.Gly429Arg)
n.716G>C
c.325G>C (p.Gly109Arg)
c.196G>C (p.Gly66Arg)
 gnomAD v4
7g.44145198C>TCA367396953GCKc.*1334G>A (n.*1334G>A)
c.*456G>A (n.*456G>A)
n.562G>A
c.370G>A (p.Gly124Ser)
c.1339G>A (p.Gly447Ser)
c.1336G>A (p.Gly446Ser)
c.1399G>A (p.Gly467Ser)
n.348G>A
c.388G>A (p.Gly130Ser)
c.1333G>A (p.Gly445Ser)
c.1285G>A (p.Gly429Ser)
n.716G>A
c.325G>A (p.Gly109Ser)
c.196G>A (p.Gly66Ser)
7g.44145199A>CCA367396957GCKc.*1333T>G (n.*1333T>G)
c.*455T>G (n.*455T>G)
n.561T>G
c.369T>G (p.Ser123Arg)
c.1338T>G (p.Ser446Arg)
c.1335T>G (p.Ser445Arg)
c.1398T>G (p.Ser466Arg)
n.347T>G
c.387T>G (p.Ser129Arg)
c.1332T>G (p.Ser444Arg)
c.1284T>G (p.Ser428Arg)
n.715T>G
c.324T>G (p.Ser108Arg)
c.195T>G (p.Ser65Arg)
7g.44145199A>GCA454606448GCKc.*1333T>C (n.*1333T>C)
c.*455T>C (n.*455T>C)
n.561T>C
c.369T>C (p.Ser123=)
c.1338T>C (p.Ser446=)
c.1335T>C (p.Ser445=)
c.1398T>C (p.Ser466=)
n.347T>C
c.387T>C (p.Ser129=)
c.1332T>C (p.Ser444=)
c.1284T>C (p.Ser428=)
n.715T>C
c.324T>C (p.Ser108=)
c.195T>C (p.Ser65=)
 gnomAD v4
7g.44145199A>TCA367396958GCKc.*1333T>A (n.*1333T>A)
c.*455T>A (n.*455T>A)
n.561T>A
c.369T>A (p.Ser123Arg)
c.1338T>A (p.Ser446Arg)
c.1335T>A (p.Ser445Arg)
c.1398T>A (p.Ser466Arg)
n.347T>A
c.387T>A (p.Ser129Arg)
c.1332T>A (p.Ser444Arg)
c.1284T>A (p.Ser428Arg)
n.715T>A
c.324T>A (p.Ser108Arg)
c.195T>A (p.Ser65Arg)
 ClinVar dbSNP
7g.44145200C>ACA367396964GCKc.*1332G>T (n.*1332G>T)
c.*454G>T (n.*454G>T)
n.560G>T
c.368G>T (p.Ser123Ile)
c.1337G>T (p.Ser446Ile)
c.1334G>T (p.Ser445Ile)
c.1397G>T (p.Ser466Ile)
n.346G>T
c.386G>T (p.Ser129Ile)
c.1331G>T (p.Ser444Ile)
c.1283G>T (p.Ser428Ile)
n.714G>T
c.323G>T (p.Ser108Ile)
c.194G>T (p.Ser65Ile)
7g.44145200C>GCA367396966GCKc.*1332G>C (n.*1332G>C)
c.*454G>C (n.*454G>C)
n.560G>C
c.368G>C (p.Ser123Thr)
c.1337G>C (p.Ser446Thr)
c.1334G>C (p.Ser445Thr)
c.1397G>C (p.Ser466Thr)
n.346G>C
c.386G>C (p.Ser129Thr)
c.1331G>C (p.Ser444Thr)
c.1283G>C (p.Ser428Thr)
n.714G>C
c.323G>C (p.Ser108Thr)
c.194G>C (p.Ser65Thr)
 gnomAD v4
7g.44145200C>TCA367396968GCKc.*1332G>A (n.*1332G>A)
c.*454G>A (n.*454G>A)
n.560G>A
c.368G>A (p.Ser123Asn)
c.1337G>A (p.Ser446Asn)
c.1334G>A (p.Ser445Asn)
c.1397G>A (p.Ser466Asn)
n.346G>A
c.386G>A (p.Ser129Asn)
c.1331G>A (p.Ser444Asn)
c.1283G>A (p.Ser428Asn)
n.714G>A
c.323G>A (p.Ser108Asn)
c.194G>A (p.Ser65Asn)
7g.44145201T>ACA367396971GCKc.*1331A>T (n.*1331A>T)
c.*453A>T (n.*453A>T)
n.559A>T
c.367A>T (p.Ser123Cys)
c.1336A>T (p.Ser446Cys)
c.1333A>T (p.Ser445Cys)
c.1396A>T (p.Ser466Cys)
n.345A>T
c.385A>T (p.Ser129Cys)
c.1330A>T (p.Ser444Cys)
c.1282A>T (p.Ser428Cys)
n.713A>T
c.322A>T (p.Ser108Cys)
c.193A>T (p.Ser65Cys)
7g.44145201T>CCA367396972GCKc.*1331A>G (n.*1331A>G)
c.*453A>G (n.*453A>G)
n.559A>G
c.367A>G (p.Ser123Gly)
c.1336A>G (p.Ser446Gly)
c.1333A>G (p.Ser445Gly)
c.1396A>G (p.Ser466Gly)
n.345A>G
c.385A>G (p.Ser129Gly)
c.1330A>G (p.Ser444Gly)
c.1282A>G (p.Ser428Gly)
n.713A>G
c.322A>G (p.Ser108Gly)
c.193A>G (p.Ser65Gly)
7g.44145201T>GCA367396973GCKc.*1331A>C (n.*1331A>C)
c.*453A>C (n.*453A>C)
n.559A>C
c.367A>C (p.Ser123Arg)
c.1336A>C (p.Ser446Arg)
c.1333A>C (p.Ser445Arg)
c.1396A>C (p.Ser466Arg)
n.345A>C
c.385A>C (p.Ser129Arg)
c.1330A>C (p.Ser444Arg)
c.1282A>C (p.Ser428Arg)
n.713A>C
c.322A>C (p.Ser108Arg)
c.193A>C (p.Ser65Arg)
7g.44145201_44145202delinsTGCA1703612671GCKc.*1330_*1331delinsCA (n.*1330_*1331delinsCA)
c.*452_*453delinsCA (n.*452_*453delinsCA)
n.558_559delinsCA
c.366_367delinsCA (p.Gly122=)
c.1335_1336delinsCA (p.Gly445=)
c.1332_1333delinsCA (p.Gly444=)
c.1395_1396delinsCA (p.Gly465=)
n.344_345delinsCA
c.384_385delinsCA (p.Gly128=)
c.1329_1330delinsCA (p.Gly443=)
c.1281_1282delinsCA (p.Gly427=)
n.712_713delinsCA
c.321_322delinsCA (p.Gly107=)
c.192_193delinsCA (p.Gly64=)
7g.44145202delCA213755GCKc.*1330del (n.*1330del)
c.*452del (n.*452del)
n.558del
c.366del (p.Ser123ValfsTer?)
c.1335del (p.Ser446ValfsTer?)
c.1332del (p.Ser445ValfsTer?)
c.1395del (p.Ser466ValfsTer?)
n.344del
c.1332del (p.Ser445ValfsTer19)
c.384del (p.Ser129ValfsTer?)
c.1329del (p.Ser444ValfsTer?)
c.1281del (p.Ser428ValfsTer?)
n.712del
c.321del (p.Ser108ValfsTer?)
c.192del (p.Ser65ValfsTer19)
c.192del (p.Ser65ValfsTer?)
 ClinVar dbSNP
7g.44145202G>ACA454606493GCKc.*1330C>T (n.*1330C>T)
c.*452C>T (n.*452C>T)
n.558C>T
c.366C>T (p.Gly122=)
c.1335C>T (p.Gly445=)
c.1332C>T (p.Gly444=)
c.1395C>T (p.Gly465=)
n.344C>T
c.384C>T (p.Gly128=)
c.1329C>T (p.Gly443=)
c.1281C>T (p.Gly427=)
n.712C>T
c.321C>T (p.Gly107=)
c.192C>T (p.Gly64=)
 gnomAD v4
7g.44145202G>CCA454606465GCKc.*1330C>G (n.*1330C>G)
c.*452C>G (n.*452C>G)
n.558C>G
c.366C>G (p.Gly122=)
c.1335C>G (p.Gly445=)
c.1332C>G (p.Gly444=)
c.1395C>G (p.Gly465=)
n.344C>G
c.384C>G (p.Gly128=)
c.1329C>G (p.Gly443=)
c.1281C>G (p.Gly427=)
n.712C>G
c.321C>G (p.Gly107=)
c.192C>G (p.Gly64=)
7g.44145202G>TCA454606486GCKc.*1330C>A (n.*1330C>A)
c.*452C>A (n.*452C>A)
n.558C>A
c.366C>A (p.Gly122=)
c.1335C>A (p.Gly445=)
c.1332C>A (p.Gly444=)
c.1395C>A (p.Gly465=)
n.344C>A
c.384C>A (p.Gly128=)
c.1329C>A (p.Gly443=)
c.1281C>A (p.Gly427=)
n.712C>A
c.321C>A (p.Gly107=)
c.192C>A (p.Gly64=)
7g.44145203C>ACA367396976GCKc.*1329G>T (n.*1329G>T)
c.*451G>T (n.*451G>T)
n.557G>T
c.365G>T (p.Gly122Val)
c.1334G>T (p.Gly445Val)
c.1331G>T (p.Gly444Val)
c.1394G>T (p.Gly465Val)
n.343G>T
c.383G>T (p.Gly128Val)
c.1328G>T (p.Gly443Val)
c.1280G>T (p.Gly427Val)
n.711G>T
c.320G>T (p.Gly107Val)
c.191G>T (p.Gly64Val)
7g.44145203C=CA1703612672GCKc.*1329G= (n.*1329G=)
c.*451G= (n.*451G=)
n.557G=
c.365G= (p.Gly122=)
c.1334G= (p.Gly445=)
c.1331G= (p.Gly444=)
c.1394G= (p.Gly465=)
n.343G=
c.383G= (p.Gly128=)
c.1328G= (p.Gly443=)
c.1280G= (p.Gly427=)
n.711G=
c.320G= (p.Gly107=)
c.191G= (p.Gly64=)
7g.44145203C>GCA367396978GCKc.*1329G>C (n.*1329G>C)
c.*451G>C (n.*451G>C)
n.557G>C
c.365G>C (p.Gly122Ala)
c.1334G>C (p.Gly445Ala)
c.1331G>C (p.Gly444Ala)
c.1394G>C (p.Gly465Ala)
n.343G>C
c.383G>C (p.Gly128Ala)
c.1328G>C (p.Gly443Ala)
c.1280G>C (p.Gly427Ala)
n.711G>C
c.320G>C (p.Gly107Ala)
c.191G>C (p.Gly64Ala)
 dbSNP
7g.44145203C>TCA367396980GCKc.*1329G>A (n.*1329G>A)
c.*451G>A (n.*451G>A)
n.557G>A
c.365G>A (p.Gly122Asp)
c.1334G>A (p.Gly445Asp)
c.1331G>A (p.Gly444Asp)
c.1394G>A (p.Gly465Asp)
n.343G>A
c.383G>A (p.Gly128Asp)
c.1328G>A (p.Gly443Asp)
c.1280G>A (p.Gly427Asp)
n.711G>A
c.320G>A (p.Gly107Asp)
c.191G>A (p.Gly64Asp)
 ClinVar dbSNP gnomAD v4
7g.44145205dupCA2017997770GCKc.*1329dup (n.*1329dup)
c.*451dup (n.*451dup)
n.557dup
c.365dup (p.Ser123GlnfsTer14)
c.1334dup (p.Ser446GlnfsTer14)
c.1331dup (p.Ser445GlnfsTer14)
c.1394dup (p.Ser466GlnfsTer14)
n.343dup
c.1331dup (p.Ser445GlnfsTer27)
c.383dup (p.Ser129GlnfsTer14)
c.1328dup (p.Ser444GlnfsTer14)
c.1280dup (p.Ser428GlnfsTer14)
n.711dup
c.320dup (p.Ser108GlnfsTer14)
c.191dup (p.Ser65GlnfsTer27)
c.191dup (p.Ser65GlnfsTer14)
 ClinVar
7g.44145204C>ACA367396984GCKc.*1328G>T (n.*1328G>T)
c.*450G>T (n.*450G>T)
n.556G>T
c.364G>T (p.Gly122Cys)
c.1333G>T (p.Gly445Cys)
c.1330G>T (p.Gly444Cys)
c.1393G>T (p.Gly465Cys)
n.342G>T
c.382G>T (p.Gly128Cys)
c.1327G>T (p.Gly443Cys)
c.1279G>T (p.Gly427Cys)
n.710G>T
c.319G>T (p.Gly107Cys)
c.190G>T (p.Gly64Cys)
7g.44145204C=CA1703612673GCKc.*1328G= (n.*1328G=)
c.*450G= (n.*450G=)
n.556G=
c.364G= (p.Gly122=)
c.1333G= (p.Gly445=)
c.1330G= (p.Gly444=)
c.1393G= (p.Gly465=)
n.342G=
c.382G= (p.Gly128=)
c.1327G= (p.Gly443=)
c.1279G= (p.Gly427=)
n.710G=
c.319G= (p.Gly107=)
c.190G= (p.Gly64=)
7g.44145204C>GCA367396982GCKc.*1328G>C (n.*1328G>C)
c.*450G>C (n.*450G>C)
n.556G>C
c.364G>C (p.Gly122Arg)
c.1333G>C (p.Gly445Arg)
c.1330G>C (p.Gly444Arg)
c.1393G>C (p.Gly465Arg)
n.342G>C
c.382G>C (p.Gly128Arg)
c.1327G>C (p.Gly443Arg)
c.1279G>C (p.Gly427Arg)
n.710G>C
c.319G>C (p.Gly107Arg)
c.190G>C (p.Gly64Arg)
7g.44145204C>TCA157911840GCKc.*1328G>A (n.*1328G>A)
c.*450G>A (n.*450G>A)
n.556G>A
c.364G>A (p.Gly122Ser)
c.1333G>A (p.Gly445Ser)
c.1330G>A (p.Gly444Ser)
c.1393G>A (p.Gly465Ser)
n.342G>A
c.382G>A (p.Gly128Ser)
c.1327G>A (p.Gly443Ser)
c.1279G>A (p.Gly427Ser)
n.710G>A
c.319G>A (p.Gly107Ser)
c.190G>A (p.Gly64Ser)
 dbSNP gnomAD v4
7g.44145205C>ACA367396986GCKc.*1327G>T (n.*1327G>T)
c.*449G>T (n.*449G>T)
n.555G>T
c.363G>T (p.Glu121Asp)
c.1332G>T (p.Glu444Asp)
c.1329G>T (p.Glu443Asp)
c.1392G>T (p.Glu464Asp)
n.341G>T
c.381G>T (p.Glu127Asp)
c.1326G>T (p.Glu442Asp)
c.1278G>T (p.Glu426Asp)
n.709G>T
c.318G>T (p.Glu106Asp)
c.189G>T (p.Glu63Asp)
7g.44145205C=CA1703612674GCKc.*1327G= (n.*1327G=)
c.*449G= (n.*449G=)
n.555G=
c.363G= (p.Glu121=)
c.1332G= (p.Glu444=)
c.1329G= (p.Glu443=)
c.1392G= (p.Glu464=)
n.341G=
c.381G= (p.Glu127=)
c.1326G= (p.Glu442=)
c.1278G= (p.Glu426=)
n.709G=
c.318G= (p.Glu106=)
c.189G= (p.Glu63=)
7g.44145205C>GCA367396989GCKc.*1327G>C (n.*1327G>C)
c.*449G>C (n.*449G>C)
n.555G>C
c.363G>C (p.Glu121Asp)
c.1332G>C (p.Glu444Asp)
c.1329G>C (p.Glu443Asp)
c.1392G>C (p.Glu464Asp)
n.341G>C
c.381G>C (p.Glu127Asp)
c.1326G>C (p.Glu442Asp)
c.1278G>C (p.Glu426Asp)
n.709G>C
c.318G>C (p.Glu106Asp)
c.189G>C (p.Glu63Asp)
 dbSNP gnomAD v4
7g.44145205C>TCA4239376GCKc.*1327G>A (n.*1327G>A)
c.*449G>A (n.*449G>A)
n.555G>A
c.363G>A (p.Glu121=)
c.1332G>A (p.Glu444=)
c.1329G>A (p.Glu443=)
c.1392G>A (p.Glu464=)
n.341G>A
c.381G>A (p.Glu127=)
c.1326G>A (p.Glu442=)
c.1278G>A (p.Glu426=)
n.709G>A
c.318G>A (p.Glu106=)
c.189G>A (p.Glu63=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.44145206T>ACA367396991GCKc.*1326A>T (n.*1326A>T)
c.*448A>T (n.*448A>T)
n.554A>T
c.362A>T (p.Glu121Val)
c.1331A>T (p.Glu444Val)
c.1328A>T (p.Glu443Val)
c.1391A>T (p.Glu464Val)
n.340A>T
c.380A>T (p.Glu127Val)
c.1325A>T (p.Glu442Val)
c.1277A>T (p.Glu426Val)
n.708A>T
c.317A>T (p.Glu106Val)
c.188A>T (p.Glu63Val)
7g.44145206T>CCA367396992GCKc.*1326A>G (n.*1326A>G)
c.*448A>G (n.*448A>G)
n.554A>G
c.362A>G (p.Glu121Gly)
c.1331A>G (p.Glu444Gly)
c.1328A>G (p.Glu443Gly)
c.1391A>G (p.Glu464Gly)
n.340A>G
c.380A>G (p.Glu127Gly)
c.1325A>G (p.Glu442Gly)
c.1277A>G (p.Glu426Gly)
n.708A>G
c.317A>G (p.Glu106Gly)
c.188A>G (p.Glu63Gly)
7g.44145206T>GCA367396994GCKc.*1326A>C (n.*1326A>C)
c.*448A>C (n.*448A>C)
n.554A>C
c.362A>C (p.Glu121Ala)
c.1331A>C (p.Glu444Ala)
c.1328A>C (p.Glu443Ala)
c.1391A>C (p.Glu464Ala)
n.340A>C
c.380A>C (p.Glu127Ala)
c.1325A>C (p.Glu442Ala)
c.1277A>C (p.Glu426Ala)
n.708A>C
c.317A>C (p.Glu106Ala)
c.188A>C (p.Glu63Ala)
7g.44145207C>ACA367396996GCKc.*1325G>T (n.*1325G>T)
c.*447G>T (n.*447G>T)
n.553G>T
c.361G>T (p.Glu121Ter)
c.1330G>T (p.Glu444Ter)
c.1327G>T (p.Glu443Ter)
c.1390G>T (p.Glu464Ter)
n.339G>T
c.379G>T (p.Glu127Ter)
c.1324G>T (p.Glu442Ter)
c.1276G>T (p.Glu426Ter)
n.707G>T
c.316G>T (p.Glu106Ter)
c.187G>T (p.Glu63Ter)
 ClinVar dbSNP
7g.44145207C=CA1703612675GCKc.*1325G= (n.*1325G=)
c.*447G= (n.*447G=)
n.553G=
c.361G= (p.Glu121=)
c.1330G= (p.Glu444=)
c.1327G= (p.Glu443=)
c.1390G= (p.Glu464=)
n.339G=
c.379G= (p.Glu127=)
c.1324G= (p.Glu442=)
c.1276G= (p.Glu426=)
n.707G=
c.316G= (p.Glu106=)
c.187G= (p.Glu63=)
7g.44145207C>GCA367396998GCKc.*1325G>C (n.*1325G>C)
c.*447G>C (n.*447G>C)
n.553G>C
c.361G>C (p.Glu121Gln)
c.1330G>C (p.Glu444Gln)
c.1327G>C (p.Glu443Gln)
c.1390G>C (p.Glu464Gln)
n.339G>C
c.379G>C (p.Glu127Gln)
c.1324G>C (p.Glu442Gln)
c.1276G>C (p.Glu426Gln)
n.707G>C
c.316G>C (p.Glu106Gln)
c.187G>C (p.Glu63Gln)
7g.44145207C>TCA367396999GCKc.*1325G>A (n.*1325G>A)
c.*447G>A (n.*447G>A)
n.553G>A
c.361G>A (p.Glu121Lys)
c.1330G>A (p.Glu444Lys)
c.1327G>A (p.Glu443Lys)
c.1390G>A (p.Glu464Lys)
n.339G>A
c.379G>A (p.Glu127Lys)
c.1324G>A (p.Glu442Lys)
c.1276G>A (p.Glu426Lys)
n.707G>A
c.316G>A (p.Glu106Lys)
c.187G>A (p.Glu63Lys)
 ClinVar gnomAD v4 COSMIC
7g.44145208C>ACA367397002GCKc.*1324G>T (n.*1324G>T)
c.*446G>T (n.*446G>T)
n.552G>T
c.360G>T (p.Glu120Asp)
c.1329G>T (p.Glu443Asp)
c.1326G>T (p.Glu442Asp)
c.1389G>T (p.Glu463Asp)
n.338G>T
c.378G>T (p.Glu126Asp)
c.1323G>T (p.Glu441Asp)
c.1275G>T (p.Glu425Asp)
n.706G>T
c.315G>T (p.Glu105Asp)
c.186G>T (p.Glu62Asp)
7g.44145208C>GCA367397004GCKc.*1324G>C (n.*1324G>C)
c.*446G>C (n.*446G>C)
n.552G>C
c.360G>C (p.Glu120Asp)
c.1329G>C (p.Glu443Asp)
c.1326G>C (p.Glu442Asp)
c.1389G>C (p.Glu463Asp)
n.338G>C
c.378G>C (p.Glu126Asp)
c.1323G>C (p.Glu441Asp)
c.1275G>C (p.Glu425Asp)
n.706G>C
c.315G>C (p.Glu105Asp)
c.186G>C (p.Glu62Asp)
7g.44145208C>TCA454606526GCKc.*1324G>A (n.*1324G>A)
c.*446G>A (n.*446G>A)
n.552G>A
c.360G>A (p.Glu120=)
c.1329G>A (p.Glu443=)
c.1326G>A (p.Glu442=)
c.1389G>A (p.Glu463=)
n.338G>A
c.378G>A (p.Glu126=)
c.1323G>A (p.Glu441=)
c.1275G>A (p.Glu425=)
n.706G>A
c.315G>A (p.Glu105=)
c.186G>A (p.Glu62=)
7g.44145209T>ACA367397008GCKc.*1323A>T (n.*1323A>T)
c.*445A>T (n.*445A>T)
n.551A>T
c.359A>T (p.Glu120Val)
c.1328A>T (p.Glu443Val)
c.1325A>T (p.Glu442Val)
c.1388A>T (p.Glu463Val)
n.337A>T
c.377A>T (p.Glu126Val)
c.1322A>T (p.Glu441Val)
c.1274A>T (p.Glu425Val)
n.705A>T
c.314A>T (p.Glu105Val)
c.185A>T (p.Glu62Val)
7g.44145209T>CCA367397010GCKc.*1323A>G (n.*1323A>G)
c.*445A>G (n.*445A>G)
n.551A>G
c.359A>G (p.Glu120Gly)
c.1328A>G (p.Glu443Gly)
c.1325A>G (p.Glu442Gly)
c.1388A>G (p.Glu463Gly)
n.337A>G
c.377A>G (p.Glu126Gly)
c.1322A>G (p.Glu441Gly)
c.1274A>G (p.Glu425Gly)
n.705A>G
c.314A>G (p.Glu105Gly)
c.185A>G (p.Glu62Gly)
7g.44145209T>GCA367397007GCKc.*1323A>C (n.*1323A>C)
c.*445A>C (n.*445A>C)
n.551A>C
c.359A>C (p.Glu120Ala)
c.1328A>C (p.Glu443Ala)
c.1325A>C (p.Glu442Ala)
c.1388A>C (p.Glu463Ala)
n.337A>C
c.377A>C (p.Glu126Ala)
c.1322A>C (p.Glu441Ala)
c.1274A>C (p.Glu425Ala)
n.705A>C
c.314A>C (p.Glu105Ala)
c.185A>C (p.Glu62Ala)
7g.44145210C>ACA367397011GCKc.*1322G>T (n.*1322G>T)
c.*444G>T (n.*444G>T)
n.550G>T
c.358G>T (p.Glu120Ter)
c.1327G>T (p.Glu443Ter)
c.1324G>T (p.Glu442Ter)
c.1387G>T (p.Glu463Ter)
n.336G>T
c.376G>T (p.Glu126Ter)
c.1321G>T (p.Glu441Ter)
c.1273G>T (p.Glu425Ter)
n.704G>T
c.313G>T (p.Glu105Ter)
c.184G>T (p.Glu62Ter)
 ClinVar dbSNP gnomAD v4
7g.44145210C=CA1703612676GCKc.*1322G= (n.*1322G=)
c.*444G= (n.*444G=)
n.550G=
c.358G= (p.Glu120=)
c.1327G= (p.Glu443=)
c.1324G= (p.Glu442=)
c.1387G= (p.Glu463=)
n.336G=
c.376G= (p.Glu126=)
c.1321G= (p.Glu441=)
c.1273G= (p.Glu425=)
n.704G=
c.313G= (p.Glu105=)
c.184G= (p.Glu62=)
7g.44145210C>GCA367397013GCKc.*1322G>C (n.*1322G>C)
c.*444G>C (n.*444G>C)
n.550G>C
c.358G>C (p.Glu120Gln)
c.1327G>C (p.Glu443Gln)
c.1324G>C (p.Glu442Gln)
c.1387G>C (p.Glu463Gln)
n.336G>C
c.376G>C (p.Glu126Gln)
c.1321G>C (p.Glu441Gln)
c.1273G>C (p.Glu425Gln)
n.704G>C
c.313G>C (p.Glu105Gln)
c.184G>C (p.Glu62Gln)
7g.44145210C>TCA4239377GCKc.*1322G>A (n.*1322G>A)
c.*444G>A (n.*444G>A)
n.550G>A
c.358G>A (p.Glu120Lys)
c.1327G>A (p.Glu443Lys)
c.1324G>A (p.Glu442Lys)
c.1387G>A (p.Glu463Lys)
n.336G>A
c.376G>A (p.Glu126Lys)
c.1321G>A (p.Glu441Lys)
c.1273G>A (p.Glu425Lys)
n.704G>A
c.313G>A (p.Glu105Lys)
c.184G>A (p.Glu62Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145211delCA2739289487GCKc.*1322del (n.*1322del)
c.*444del (n.*444del)
n.550del
c.358del (p.Glu120ArgfsTer?)
c.1327del (p.Glu443ArgfsTer?)
c.1324del (p.Glu442ArgfsTer?)
c.1387del (p.Glu463ArgfsTer?)
n.336del
c.1324del (p.Glu442ArgfsTer22)
c.376del (p.Glu126ArgfsTer?)
c.1321del (p.Glu441ArgfsTer?)
c.1273del (p.Glu425ArgfsTer?)
n.704del
c.313del (p.Glu105ArgfsTer?)
c.184del (p.Glu62ArgfsTer22)
c.184del (p.Glu62ArgfsTer?)
7g.44145211C>ACA454606536GCKc.*1321G>T (n.*1321G>T)
c.*443G>T (n.*443G>T)
n.549G>T
c.357G>T (p.Ser119=)
c.1326G>T (p.Ser442=)
c.1323G>T (p.Ser441=)
c.1386G>T (p.Ser462=)
n.335G>T
c.375G>T (p.Ser125=)
c.1320G>T (p.Ser440=)
c.1272G>T (p.Ser424=)
n.703G>T
c.312G>T (p.Ser104=)
c.183G>T (p.Ser61=)
7g.44145211C=CA1703612677GCKc.*1321G= (n.*1321G=)
c.*443G= (n.*443G=)
n.549G=
c.357G= (p.Ser119=)
c.1326G= (p.Ser442=)
c.1323G= (p.Ser441=)
c.1386G= (p.Ser462=)
n.335G=
c.375G= (p.Ser125=)
c.1320G= (p.Ser440=)
c.1272G= (p.Ser424=)
n.703G=
c.312G= (p.Ser104=)
c.183G= (p.Ser61=)
7g.44145211C>GCA454606539GCKc.*1321G>C (n.*1321G>C)
c.*443G>C (n.*443G>C)
n.549G>C
c.357G>C (p.Ser119=)
c.1326G>C (p.Ser442=)
c.1323G>C (p.Ser441=)
c.1386G>C (p.Ser462=)
n.335G>C
c.375G>C (p.Ser125=)
c.1320G>C (p.Ser440=)
c.1272G>C (p.Ser424=)
n.703G>C
c.312G>C (p.Ser104=)
c.183G>C (p.Ser61=)
7g.44145211C>TCA4239378GCKc.*1321G>A (n.*1321G>A)
c.*443G>A (n.*443G>A)
n.549G>A
c.357G>A (p.Ser119=)
c.1326G>A (p.Ser442=)
c.1323G>A (p.Ser441=)
c.1386G>A (p.Ser462=)
n.335G>A
c.375G>A (p.Ser125=)
c.1320G>A (p.Ser440=)
c.1272G>A (p.Ser424=)
n.703G>A
c.312G>A (p.Ser104=)
c.183G>A (p.Ser61=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
7g.44145214_44145218dupCA2573106102GCKc.*1317_*1321dup (n.*1317_*1321dup)
c.*439_*443dup (n.*439_*443dup)
n.545_549dup
c.353_357dup (p.Glu120SerfsTer?)
c.1322_1326dup (p.Glu443SerfsTer?)
c.1319_1323dup (p.Glu442SerfsTer?)
c.1382_1386dup (p.Glu463SerfsTer?)
n.331_335dup
c.1319_1323dup (p.Glu442SerfsTer24)
c.371_375dup (p.Glu126SerfsTer?)
c.1316_1320dup (p.Glu441SerfsTer?)
c.1268_1272dup (p.Glu425SerfsTer?)
n.699_703dup
c.308_312dup (p.Glu105SerfsTer?)
c.179_183dup (p.Glu62SerfsTer24)
c.179_183dup (p.Glu62SerfsTer?)
 ClinVar
7g.44145214_44145218delCA2695202956GCKc.*1317_*1321del (n.*1317_*1321del)
c.*439_*443del (n.*439_*443del)
n.545_549del
c.353_357del (p.Glu118GlyfsTer17)
c.1322_1326del (p.Glu441GlyfsTer17)
c.1319_1323del (p.Glu440GlyfsTer17)
c.1382_1386del (p.Glu461GlyfsTer17)
n.331_335del
c.1319_1323del (p.Glu440GlyfsTer30)
c.371_375del (p.Glu124GlyfsTer17)
c.1316_1320del (p.Glu439GlyfsTer17)
c.1268_1272del (p.Glu423GlyfsTer17)
n.699_703del
c.308_312del (p.Glu103GlyfsTer17)
c.179_183del (p.Glu60GlyfsTer30)
c.179_183del (p.Glu60GlyfsTer17)
7g.44145212G>ACA367397015GCKc.*1320C>T (n.*1320C>T)
c.*442C>T (n.*442C>T)
n.548C>T
c.356C>T (p.Ser119Leu)
c.1325C>T (p.Ser442Leu)
c.1322C>T (p.Ser441Leu)
c.1385C>T (p.Ser462Leu)
n.334C>T
c.374C>T (p.Ser125Leu)
c.1319C>T (p.Ser440Leu)
c.1271C>T (p.Ser424Leu)
n.702C>T
c.311C>T (p.Ser104Leu)
c.182C>T (p.Ser61Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145212G>CCA367397017GCKc.*1320C>G (n.*1320C>G)
c.*442C>G (n.*442C>G)
n.548C>G
c.356C>G (p.Ser119Trp)
c.1325C>G (p.Ser442Trp)
c.1322C>G (p.Ser441Trp)
c.1385C>G (p.Ser462Trp)
n.334C>G
c.374C>G (p.Ser125Trp)
c.1319C>G (p.Ser440Trp)
c.1271C>G (p.Ser424Trp)
n.702C>G
c.311C>G (p.Ser104Trp)
c.182C>G (p.Ser61Trp)
 ClinVar dbSNP
7g.44145212G=CA1703612678GCKc.*1320C= (n.*1320C=)
c.*442C= (n.*442C=)
n.548C=
c.356C= (p.Ser119=)
c.1325C= (p.Ser442=)
c.1322C= (p.Ser441=)
c.1385C= (p.Ser462=)
n.334C=
c.374C= (p.Ser125=)
c.1319C= (p.Ser440=)
c.1271C= (p.Ser424=)
n.702C=
c.311C= (p.Ser104=)
c.182C= (p.Ser61=)
7g.44145212G>TCA367397019GCKc.*1320C>A (n.*1320C>A)
c.*442C>A (n.*442C>A)
n.548C>A
c.356C>A (p.Ser119Ter)
c.1325C>A (p.Ser442Ter)
c.1322C>A (p.Ser441Ter)
c.1385C>A (p.Ser462Ter)
n.334C>A
c.374C>A (p.Ser125Ter)
c.1319C>A (p.Ser440Ter)
c.1271C>A (p.Ser424Ter)
n.702C>A
c.311C>A (p.Ser104Ter)
c.182C>A (p.Ser61Ter)
 ClinVar gnomAD v4
7g.44145214_44145221delCA2580077134GCKc.*1313_*1320del (n.*1313_*1320del)
c.*435_*442del (n.*435_*442del)
n.541_548del
c.349_356del (p.Ile117GlyfsTer17)
c.1318_1325del (p.Ile440GlyfsTer17)
c.1315_1322del (p.Ile439GlyfsTer17)
c.1378_1385del (p.Ile460GlyfsTer17)
n.327_334del
c.1315_1322del (p.Ile439GlyfsTer30)
c.367_374del (p.Ile123GlyfsTer17)
c.1312_1319del (p.Ile438GlyfsTer17)
c.1264_1271del (p.Ile422GlyfsTer17)
n.695_702del
c.304_311del (p.Ile102GlyfsTer17)
c.175_182del (p.Ile59GlyfsTer30)
c.175_182del (p.Ile59GlyfsTer17)
 ClinVar
7g.44145213A>CCA367397020GCKc.*1319T>G (n.*1319T>G)
c.*441T>G (n.*441T>G)
n.547T>G
c.355T>G (p.Ser119Ala)
c.1324T>G (p.Ser442Ala)
c.1321T>G (p.Ser441Ala)
c.1384T>G (p.Ser462Ala)
n.333T>G
c.373T>G (p.Ser125Ala)
c.1318T>G (p.Ser440Ala)
c.1270T>G (p.Ser424Ala)
n.701T>G
c.310T>G (p.Ser104Ala)
c.181T>G (p.Ser61Ala)
7g.44145213A>GCA367397022GCKc.*1319T>C (n.*1319T>C)
c.*441T>C (n.*441T>C)
n.547T>C
c.355T>C (p.Ser119Pro)
c.1324T>C (p.Ser442Pro)
c.1321T>C (p.Ser441Pro)
c.1384T>C (p.Ser462Pro)
n.333T>C
c.373T>C (p.Ser125Pro)
c.1318T>C (p.Ser440Pro)
c.1270T>C (p.Ser424Pro)
n.701T>C
c.310T>C (p.Ser104Pro)
c.181T>C (p.Ser61Pro)
 gnomAD v4
7g.44145213A>TCA367397024GCKc.*1319T>A (n.*1319T>A)
c.*441T>A (n.*441T>A)
n.547T>A
c.355T>A (p.Ser119Thr)
c.1324T>A (p.Ser442Thr)
c.1321T>A (p.Ser441Thr)
c.1384T>A (p.Ser462Thr)
n.333T>A
c.373T>A (p.Ser125Thr)
c.1318T>A (p.Ser440Thr)
c.1270T>A (p.Ser424Thr)
n.701T>A
c.310T>A (p.Ser104Thr)
c.181T>A (p.Ser61Thr)
7g.44145214C>ACA367397026GCKc.*1318G>T (n.*1318G>T)
c.*440G>T (n.*440G>T)
n.546G>T
c.354G>T (p.Glu118Asp)
c.1323G>T (p.Glu441Asp)
c.1320G>T (p.Glu440Asp)
c.1383G>T (p.Glu461Asp)
n.332G>T
c.372G>T (p.Glu124Asp)
c.1317G>T (p.Glu439Asp)
c.1269G>T (p.Glu423Asp)
n.700G>T
c.309G>T (p.Glu103Asp)
c.180G>T (p.Glu60Asp)
7g.44145214C>GCA367397027GCKc.*1318G>C (n.*1318G>C)
c.*440G>C (n.*440G>C)
n.546G>C
c.354G>C (p.Glu118Asp)
c.1323G>C (p.Glu441Asp)
c.1320G>C (p.Glu440Asp)
c.1383G>C (p.Glu461Asp)
n.332G>C
c.372G>C (p.Glu124Asp)
c.1317G>C (p.Glu439Asp)
c.1269G>C (p.Glu423Asp)
n.700G>C
c.309G>C (p.Glu103Asp)
c.180G>C (p.Glu60Asp)
7g.44145214C>TCA454606558GCKc.*1318G>A (n.*1318G>A)
c.*440G>A (n.*440G>A)
n.546G>A
c.354G>A (p.Glu118=)
c.1323G>A (p.Glu441=)
c.1320G>A (p.Glu440=)
c.1383G>A (p.Glu461=)
n.332G>A
c.372G>A (p.Glu124=)
c.1317G>A (p.Glu439=)
c.1269G>A (p.Glu423=)
n.700G>A
c.309G>A (p.Glu103=)
c.180G>A (p.Glu60=)
 gnomAD v4
7g.44145215T>ACA367397034GCKc.*1317A>T (n.*1317A>T)
c.*439A>T (n.*439A>T)
n.545A>T
c.353A>T (p.Glu118Val)
c.1322A>T (p.Glu441Val)
c.1319A>T (p.Glu440Val)
c.1382A>T (p.Glu461Val)
n.331A>T
c.371A>T (p.Glu124Val)
c.1316A>T (p.Glu439Val)
c.1268A>T (p.Glu423Val)
n.699A>T
c.308A>T (p.Glu103Val)
c.179A>T (p.Glu60Val)
7g.44145215T>CCA367397030GCKc.*1317A>G (n.*1317A>G)
c.*439A>G (n.*439A>G)
n.545A>G
c.353A>G (p.Glu118Gly)
c.1322A>G (p.Glu441Gly)
c.1319A>G (p.Glu440Gly)
c.1382A>G (p.Glu461Gly)
n.331A>G
c.371A>G (p.Glu124Gly)
c.1316A>G (p.Glu439Gly)
c.1268A>G (p.Glu423Gly)
n.699A>G
c.308A>G (p.Glu103Gly)
c.179A>G (p.Glu60Gly)
 ClinVar dbSNP
7g.44145215T>GCA367397032GCKc.*1317A>C (n.*1317A>C)
c.*439A>C (n.*439A>C)
n.545A>C
c.353A>C (p.Glu118Ala)
c.1322A>C (p.Glu441Ala)
c.1319A>C (p.Glu440Ala)
c.1382A>C (p.Glu461Ala)
n.331A>C
c.371A>C (p.Glu124Ala)
c.1316A>C (p.Glu439Ala)
c.1268A>C (p.Glu423Ala)
n.699A>C
c.308A>C (p.Glu103Ala)
c.179A>C (p.Glu60Ala)
7g.44145217_44145229delCA2573106064GCKc.*1305_*1317del (n.*1305_*1317del)
c.*427_*439del (n.*427_*439del)
n.533_545del
c.341_353del (p.Ile114SerfsTer?)
c.1310_1322del (p.Ile437SerfsTer?)
c.1307_1319del (p.Ile436SerfsTer?)
c.1370_1382del (p.Ile457SerfsTer?)
n.319_331del
c.1307_1319del (p.Ile436SerfsTer24)
c.359_371del (p.Ile120SerfsTer?)
c.1304_1316del (p.Ile435SerfsTer?)
c.1256_1268del (p.Ile419SerfsTer?)
n.687_699del
c.296_308del (p.Ile99SerfsTer?)
c.167_179del (p.Ile56SerfsTer24)
c.167_179del (p.Ile56SerfsTer?)
 ClinVar
7g.44145216C>ACA367397036GCKc.*1316G>T (n.*1316G>T)
c.*438G>T (n.*438G>T)
n.544G>T
c.352G>T (p.Glu118Ter)
c.1321G>T (p.Glu441Ter)
c.1318G>T (p.Glu440Ter)
c.1381G>T (p.Glu461Ter)
n.330G>T
c.370G>T (p.Glu124Ter)
c.1315G>T (p.Glu439Ter)
c.1267G>T (p.Glu423Ter)
n.698G>T
c.307G>T (p.Glu103Ter)
c.178G>T (p.Glu60Ter)
 ClinVar
7g.44145216C=CA1703612679GCKc.*1316G= (n.*1316G=)
c.*438G= (n.*438G=)
n.544G=
c.352G= (p.Glu118=)
c.1321G= (p.Glu441=)
c.1318G= (p.Glu440=)
c.1381G= (p.Glu461=)
n.330G=
c.370G= (p.Glu124=)
c.1315G= (p.Glu439=)
c.1267G= (p.Glu423=)
n.698G=
c.307G= (p.Glu103=)
c.178G= (p.Glu60=)
7g.44145216C>GCA367397038GCKc.*1316G>C (n.*1316G>C)
c.*438G>C (n.*438G>C)
n.544G>C
c.352G>C (p.Glu118Gln)
c.1321G>C (p.Glu441Gln)
c.1318G>C (p.Glu440Gln)
c.1381G>C (p.Glu461Gln)
n.330G>C
c.370G>C (p.Glu124Gln)
c.1315G>C (p.Glu439Gln)
c.1267G>C (p.Glu423Gln)
n.698G>C
c.307G>C (p.Glu103Gln)
c.178G>C (p.Glu60Gln)
 gnomAD v4
7g.44145216C>TCA367397040GCKc.*1316G>A (n.*1316G>A)
c.*438G>A (n.*438G>A)
n.544G>A
c.352G>A (p.Glu118Lys)
c.1321G>A (p.Glu441Lys)
c.1318G>A (p.Glu440Lys)
c.1381G>A (p.Glu461Lys)
n.330G>A
c.370G>A (p.Glu124Lys)
c.1315G>A (p.Glu439Lys)
c.1267G>A (p.Glu423Lys)
n.698G>A
c.307G>A (p.Glu103Lys)
c.178G>A (p.Glu60Lys)
 dbSNP gnomAD v4
7g.44145217G>ACA454606568GCKc.*1315C>T (n.*1315C>T)
c.*437C>T (n.*437C>T)
n.543C>T
c.351C>T (p.Ile117=)
c.1320C>T (p.Ile440=)
c.1317C>T (p.Ile439=)
c.1380C>T (p.Ile460=)
n.329C>T
c.369C>T (p.Ile123=)
c.1314C>T (p.Ile438=)
c.1266C>T (p.Ile422=)
n.697C>T
c.306C>T (p.Ile102=)
c.177C>T (p.Ile59=)
 ClinVar dbSNP gnomAD v4
7g.44145217G>CCA367397042GCKc.*1315C>G (n.*1315C>G)
c.*437C>G (n.*437C>G)
n.543C>G
c.351C>G (p.Ile117Met)
c.1320C>G (p.Ile440Met)
c.1317C>G (p.Ile439Met)
c.1380C>G (p.Ile460Met)
n.329C>G
c.369C>G (p.Ile123Met)
c.1314C>G (p.Ile438Met)
c.1266C>G (p.Ile422Met)
n.697C>G
c.306C>G (p.Ile102Met)
c.177C>G (p.Ile59Met)
 gnomAD v4
7g.44145217G=CA1703612680GCKc.*1315C= (n.*1315C=)
c.*437C= (n.*437C=)
n.543C=
c.351C= (p.Ile117=)
c.1320C= (p.Ile440=)
c.1317C= (p.Ile439=)
c.1380C= (p.Ile460=)
n.329C=
c.369C= (p.Ile123=)
c.1314C= (p.Ile438=)
c.1266C= (p.Ile422=)
n.697C=
c.306C= (p.Ile102=)
c.177C= (p.Ile59=)
7g.44145217G>TCA454606572GCKc.*1315C>A (n.*1315C>A)
c.*437C>A (n.*437C>A)
n.543C>A
c.351C>A (p.Ile117=)
c.1320C>A (p.Ile440=)
c.1317C>A (p.Ile439=)
c.1380C>A (p.Ile460=)
n.329C>A
c.369C>A (p.Ile123=)
c.1314C>A (p.Ile438=)
c.1266C>A (p.Ile422=)
n.697C>A
c.306C>A (p.Ile102=)
c.177C>A (p.Ile59=)
7g.44145218A>CCA367397044GCKc.*1314T>G (n.*1314T>G)
c.*436T>G (n.*436T>G)
n.542T>G
c.350T>G (p.Ile117Ser)
c.1319T>G (p.Ile440Ser)
c.1316T>G (p.Ile439Ser)
c.1379T>G (p.Ile460Ser)
n.328T>G
c.368T>G (p.Ile123Ser)
c.1313T>G (p.Ile438Ser)
c.1265T>G (p.Ile422Ser)
n.696T>G
c.305T>G (p.Ile102Ser)
c.176T>G (p.Ile59Ser)
7g.44145218A>GCA367397046GCKc.*1314T>C (n.*1314T>C)
c.*436T>C (n.*436T>C)
n.542T>C
c.350T>C (p.Ile117Thr)
c.1319T>C (p.Ile440Thr)
c.1316T>C (p.Ile439Thr)
c.1379T>C (p.Ile460Thr)
n.328T>C
c.368T>C (p.Ile123Thr)
c.1313T>C (p.Ile438Thr)
c.1265T>C (p.Ile422Thr)
n.696T>C
c.305T>C (p.Ile102Thr)
c.176T>C (p.Ile59Thr)
 gnomAD v4
7g.44145218A>TCA367397048GCKc.*1314T>A (n.*1314T>A)
c.*436T>A (n.*436T>A)
n.542T>A
c.350T>A (p.Ile117Asn)
c.1319T>A (p.Ile440Asn)
c.1316T>A (p.Ile439Asn)
c.1379T>A (p.Ile460Asn)
n.328T>A
c.368T>A (p.Ile123Asn)
c.1313T>A (p.Ile438Asn)
c.1265T>A (p.Ile422Asn)
n.696T>A
c.305T>A (p.Ile102Asn)
c.176T>A (p.Ile59Asn)
7g.44145219T>ACA367397050GCKc.*1313A>T (n.*1313A>T)
c.*435A>T (n.*435A>T)
n.541A>T
c.349A>T (p.Ile117Phe)
c.1318A>T (p.Ile440Phe)
c.1315A>T (p.Ile439Phe)
c.1378A>T (p.Ile460Phe)
n.327A>T
c.367A>T (p.Ile123Phe)
c.1312A>T (p.Ile438Phe)
c.1264A>T (p.Ile422Phe)
n.695A>T
c.304A>T (p.Ile102Phe)
c.175A>T (p.Ile59Phe)
7g.44145219T>CCA367397053GCKc.*1313A>G (n.*1313A>G)
c.*435A>G (n.*435A>G)
n.541A>G
c.349A>G (p.Ile117Val)
c.1318A>G (p.Ile440Val)
c.1315A>G (p.Ile439Val)
c.1378A>G (p.Ile460Val)
n.327A>G
c.367A>G (p.Ile123Val)
c.1312A>G (p.Ile438Val)
c.1264A>G (p.Ile422Val)
n.695A>G
c.304A>G (p.Ile102Val)
c.175A>G (p.Ile59Val)
 gnomAD v4
7g.44145219T>GCA367397055GCKc.*1313A>C (n.*1313A>C)
c.*435A>C (n.*435A>C)
n.541A>C
c.349A>C (p.Ile117Leu)
c.1318A>C (p.Ile440Leu)
c.1315A>C (p.Ile439Leu)
c.1378A>C (p.Ile460Leu)
n.327A>C
c.367A>C (p.Ile123Leu)
c.1312A>C (p.Ile438Leu)
c.1264A>C (p.Ile422Leu)
n.695A>C
c.304A>C (p.Ile102Leu)
c.175A>C (p.Ile59Leu)
7g.44145220G>ACA454606586GCKc.*1312C>T (n.*1312C>T)
c.*434C>T (n.*434C>T)
n.540C>T
c.348C>T (p.Phe116=)
c.1317C>T (p.Phe439=)
c.1314C>T (p.Phe438=)
c.1377C>T (p.Phe459=)
n.326C>T
c.366C>T (p.Phe122=)
c.1311C>T (p.Phe437=)
c.1263C>T (p.Phe421=)
n.694C>T
c.303C>T (p.Phe101=)
c.174C>T (p.Phe58=)
7g.44145220G>CCA367397056GCKc.*1312C>G (n.*1312C>G)
c.*434C>G (n.*434C>G)
n.540C>G
c.348C>G (p.Phe116Leu)
c.1317C>G (p.Phe439Leu)
c.1314C>G (p.Phe438Leu)
c.1377C>G (p.Phe459Leu)
n.326C>G
c.366C>G (p.Phe122Leu)
c.1311C>G (p.Phe437Leu)
c.1263C>G (p.Phe421Leu)
n.694C>G
c.303C>G (p.Phe101Leu)
c.174C>G (p.Phe58Leu)
7g.44145220G>TCA367397058GCKc.*1312C>A (n.*1312C>A)
c.*434C>A (n.*434C>A)
n.540C>A
c.348C>A (p.Phe116Leu)
c.1317C>A (p.Phe439Leu)
c.1314C>A (p.Phe438Leu)
c.1377C>A (p.Phe459Leu)
n.326C>A
c.366C>A (p.Phe122Leu)
c.1311C>A (p.Phe437Leu)
c.1263C>A (p.Phe421Leu)
n.694C>A
c.303C>A (p.Phe101Leu)
c.174C>A (p.Phe58Leu)
7g.44145221_44145223delCA2017997767GCKc.*1310_*1312del (n.*1310_*1312del)
c.*432_*434del (n.*432_*434del)
n.538_540del
c.346_348del (p.Phe116del)
c.1315_1317del (p.Phe439del)
c.1312_1314del (p.Phe438del)
c.1375_1377del (p.Phe459del)
n.324_326del
c.364_366del (p.Phe122del)
c.1309_1311del (p.Phe437del)
c.1261_1263del (p.Phe421del)
n.692_694del
c.301_303del (p.Phe101del)
c.172_174del (p.Phe58del)
 ClinVar
7g.44145221A>CCA367397063GCKc.*1311T>G (n.*1311T>G)
c.*433T>G (n.*433T>G)
n.539T>G
c.347T>G (p.Phe116Cys)
c.1316T>G (p.Phe439Cys)
c.1313T>G (p.Phe438Cys)
c.1376T>G (p.Phe459Cys)
n.325T>G
c.365T>G (p.Phe122Cys)
c.1310T>G (p.Phe437Cys)
c.1262T>G (p.Phe421Cys)
n.693T>G
c.302T>G (p.Phe101Cys)
c.173T>G (p.Phe58Cys)
7g.44145221A>GCA367397065GCKc.*1311T>C (n.*1311T>C)
c.*433T>C (n.*433T>C)
n.539T>C
c.347T>C (p.Phe116Ser)
c.1316T>C (p.Phe439Ser)
c.1313T>C (p.Phe438Ser)
c.1376T>C (p.Phe459Ser)
n.325T>C
c.365T>C (p.Phe122Ser)
c.1310T>C (p.Phe437Ser)
c.1262T>C (p.Phe421Ser)
n.693T>C
c.302T>C (p.Phe101Ser)
c.173T>C (p.Phe58Ser)
7g.44145221A>TCA367397060GCKc.*1311T>A (n.*1311T>A)
c.*433T>A (n.*433T>A)
n.539T>A
c.347T>A (p.Phe116Tyr)
c.1316T>A (p.Phe439Tyr)
c.1313T>A (p.Phe438Tyr)
c.1376T>A (p.Phe459Tyr)
n.325T>A
c.365T>A (p.Phe122Tyr)
c.1310T>A (p.Phe437Tyr)
c.1262T>A (p.Phe421Tyr)
n.693T>A
c.302T>A (p.Phe101Tyr)
c.173T>A (p.Phe58Tyr)
 ClinVar
7g.44145222delCA2682580572GCKc.*1311del (n.*1311del)
c.*433del (n.*433del)
n.539del
c.347del (p.Phe116SerfsTer?)
c.1316del (p.Phe439SerfsTer?)
c.1313del (p.Phe438SerfsTer?)
c.1376del (p.Phe459SerfsTer?)
n.325del
c.1313del (p.Phe438SerfsTer26)
c.365del (p.Phe122SerfsTer?)
c.1310del (p.Phe437SerfsTer?)
c.1262del (p.Phe421SerfsTer?)
n.693del
c.302del (p.Phe101SerfsTer?)
c.173del (p.Phe58SerfsTer26)
c.173del (p.Phe58SerfsTer?)
 gnomAD v4
7g.44145221_44145300delinsAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGCA1703612681GCKc.*1252-20_*1311delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
c.*374-20_*433delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
n.480-20_539delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
c.288-20_347delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
c.1257-20_1316delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
c.1254-20_1313delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
c.1317-20_1376delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
n.266-20_325delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
c.306-20_365delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
c.1251-20_1310delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
c.1203-20_1262delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
n.634-20_693delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
c.243-20_302delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
c.114-20_173delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT
7g.44145222A>CCA367397071GCKc.*1310T>G (n.*1310T>G)
c.*432T>G (n.*432T>G)
n.538T>G
c.346T>G (p.Phe116Val)
c.1315T>G (p.Phe439Val)
c.1312T>G (p.Phe438Val)
c.1375T>G (p.Phe459Val)
n.324T>G
c.364T>G (p.Phe122Val)
c.1309T>G (p.Phe437Val)
c.1261T>G (p.Phe421Val)
n.692T>G
c.301T>G (p.Phe101Val)
c.172T>G (p.Phe58Val)
 ClinVar dbSNP
7g.44145222A>GCA367397068GCKc.*1310T>C (n.*1310T>C)
c.*432T>C (n.*432T>C)
n.538T>C
c.346T>C (p.Phe116Leu)
c.1315T>C (p.Phe439Leu)
c.1312T>C (p.Phe438Leu)
c.1375T>C (p.Phe459Leu)
n.324T>C
c.364T>C (p.Phe122Leu)
c.1309T>C (p.Phe437Leu)
c.1261T>C (p.Phe421Leu)
n.692T>C
c.301T>C (p.Phe101Leu)
c.172T>C (p.Phe58Leu)
7g.44145222A>TCA367397069GCKc.*1310T>A (n.*1310T>A)
c.*432T>A (n.*432T>A)
n.538T>A
c.346T>A (p.Phe116Ile)
c.1315T>A (p.Phe439Ile)
c.1312T>A (p.Phe438Ile)
c.1375T>A (p.Phe459Ile)
n.324T>A
c.364T>A (p.Phe122Ile)
c.1309T>A (p.Phe437Ile)
c.1261T>A (p.Phe421Ile)
n.692T>A
c.301T>A (p.Phe101Ile)
c.172T>A (p.Phe58Ile)
7g.44145222_44145300delCA1139660054GCKc.*1252-20_*1310del
c.*374-20_*432del
n.480-20_538del
c.288-20_346del
c.1257-20_1315del
c.1254-20_1312del
c.1317-20_1375del
n.266-20_324del
c.306-20_364del
c.1251-20_1309del
c.1203-20_1261del
n.634-20_692del
c.243-20_301del
c.114-20_172del
 ClinVar dbSNP
7g.44145223G>ACA4239379GCKc.*1309C>T (n.*1309C>T)
c.*431C>T (n.*431C>T)
n.537C>T
c.345C>T (p.Thr115=)
c.1314C>T (p.Thr438=)
c.1311C>T (p.Thr437=)
c.1374C>T (p.Thr458=)
n.323C>T
c.363C>T (p.Thr121=)
c.1308C>T (p.Thr436=)
c.1260C>T (p.Thr420=)
n.691C>T
c.300C>T (p.Thr100=)
c.171C>T (p.Thr57=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145223G>CCA454606606GCKc.*1309C>G (n.*1309C>G)
c.*431C>G (n.*431C>G)
n.537C>G
c.345C>G (p.Thr115=)
c.1314C>G (p.Thr438=)
c.1311C>G (p.Thr437=)
c.1374C>G (p.Thr458=)
n.323C>G
c.363C>G (p.Thr121=)
c.1308C>G (p.Thr436=)
c.1260C>G (p.Thr420=)
n.691C>G
c.300C>G (p.Thr100=)
c.171C>G (p.Thr57=)
7g.44145223G=CA1703612682GCKc.*1309C= (n.*1309C=)
c.*431C= (n.*431C=)
n.537C=
c.345C= (p.Thr115=)
c.1314C= (p.Thr438=)
c.1311C= (p.Thr437=)
c.1374C= (p.Thr458=)
n.323C=
c.363C= (p.Thr121=)
c.1308C= (p.Thr436=)
c.1260C= (p.Thr420=)
n.691C=
c.300C= (p.Thr100=)
c.171C= (p.Thr57=)
7g.44145223G>TCA454606604GCKc.*1309C>A (n.*1309C>A)
c.*431C>A (n.*431C>A)
n.537C>A
c.345C>A (p.Thr115=)
c.1314C>A (p.Thr438=)
c.1311C>A (p.Thr437=)
c.1374C>A (p.Thr458=)
n.323C>A
c.363C>A (p.Thr121=)
c.1308C>A (p.Thr436=)
c.1260C>A (p.Thr420=)
n.691C>A
c.300C>A (p.Thr100=)
c.171C>A (p.Thr57=)
7g.44145225_44145239delCA2697557239GCKc.*1295_*1309del (n.*1295_*1309del)
c.*417_*431del (n.*417_*431del)
n.523_537del
c.331_345del (p.Ser111_Thr115del)
c.1300_1314del (p.Ser434_Thr438del)
c.1297_1311del (p.Ser433_Thr437del)
c.1360_1374del (p.Ser454_Thr458del)
n.309_323del
c.349_363del (p.Ser117_Thr121del)
c.1294_1308del (p.Ser432_Thr436del)
c.1246_1260del (p.Ser416_Thr420del)
n.677_691del
c.286_300del (p.Ser96_Thr100del)
c.157_171del (p.Ser53_Thr57del)
 ClinVar
7g.44145224G>ACA367397075GCKc.*1308C>T (n.*1308C>T)
c.*430C>T (n.*430C>T)
n.536C>T
c.344C>T (p.Thr115Ile)
c.1313C>T (p.Thr438Ile)
c.1310C>T (p.Thr437Ile)
c.1373C>T (p.Thr458Ile)
n.322C>T
c.362C>T (p.Thr121Ile)
c.1307C>T (p.Thr436Ile)
c.1259C>T (p.Thr420Ile)
n.690C>T
c.299C>T (p.Thr100Ile)
c.170C>T (p.Thr57Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145224G>CCA367397077GCKc.*1308C>G (n.*1308C>G)
c.*430C>G (n.*430C>G)
n.536C>G
c.344C>G (p.Thr115Ser)
c.1313C>G (p.Thr438Ser)
c.1310C>G (p.Thr437Ser)
c.1373C>G (p.Thr458Ser)
n.322C>G
c.362C>G (p.Thr121Ser)
c.1307C>G (p.Thr436Ser)
c.1259C>G (p.Thr420Ser)
n.690C>G
c.299C>G (p.Thr100Ser)
c.170C>G (p.Thr57Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145224G=CA1703612683GCKc.*1308C= (n.*1308C=)
c.*430C= (n.*430C=)
n.536C=
c.344C= (p.Thr115=)
c.1313C= (p.Thr438=)
c.1310C= (p.Thr437=)
c.1373C= (p.Thr458=)
n.322C=
c.362C= (p.Thr121=)
c.1307C= (p.Thr436=)
c.1259C= (p.Thr420=)
n.690C=
c.299C= (p.Thr100=)
c.170C= (p.Thr57=)
7g.44145224G>TCA367397079GCKc.*1308C>A (n.*1308C>A)
c.*430C>A (n.*430C>A)
n.536C>A
c.344C>A (p.Thr115Asn)
c.1313C>A (p.Thr438Asn)
c.1310C>A (p.Thr437Asn)
c.1373C>A (p.Thr458Asn)
n.322C>A
c.362C>A (p.Thr121Asn)
c.1307C>A (p.Thr436Asn)
c.1259C>A (p.Thr420Asn)
n.690C>A
c.299C>A (p.Thr100Asn)
c.170C>A (p.Thr57Asn)
 gnomAD v4
7g.44145225_44145226delCA2573106063GCKc.*1307_*1308del (n.*1307_*1308del)
c.*429_*430del (n.*429_*430del)
n.535_536del
c.343_344del (p.Thr115LeufsTer21)
c.1312_1313del (p.Thr438LeufsTer21)
c.1309_1310del (p.Thr437LeufsTer21)
c.1372_1373del (p.Thr458LeufsTer21)
n.321_322del
c.1309_1310del (p.Thr437LeufsTer?)
c.361_362del (p.Thr121LeufsTer21)
c.1306_1307del (p.Thr436LeufsTer21)
c.1258_1259del (p.Thr420LeufsTer21)
n.689_690del
c.298_299del (p.Thr100LeufsTer21)
c.169_170del (p.Thr57LeufsTer?)
c.169_170del (p.Thr57LeufsTer21)
 ClinVar
7g.44145225T>ACA367397082GCKc.*1307A>T (n.*1307A>T)
c.*429A>T (n.*429A>T)
n.535A>T
c.343A>T (p.Thr115Ser)
c.1312A>T (p.Thr438Ser)
c.1309A>T (p.Thr437Ser)
c.1372A>T (p.Thr458Ser)
n.321A>T
c.361A>T (p.Thr121Ser)
c.1306A>T (p.Thr436Ser)
c.1258A>T (p.Thr420Ser)
n.689A>T
c.298A>T (p.Thr100Ser)
c.169A>T (p.Thr57Ser)
7g.44145225T>CCA367397084GCKc.*1307A>G (n.*1307A>G)
c.*429A>G (n.*429A>G)
n.535A>G
c.343A>G (p.Thr115Ala)
c.1312A>G (p.Thr438Ala)
c.1309A>G (p.Thr437Ala)
c.1372A>G (p.Thr458Ala)
n.321A>G
c.361A>G (p.Thr121Ala)
c.1306A>G (p.Thr436Ala)
c.1258A>G (p.Thr420Ala)
n.689A>G
c.298A>G (p.Thr100Ala)
c.169A>G (p.Thr57Ala)
7g.44145225T>GCA367397086GCKc.*1307A>C (n.*1307A>C)
c.*429A>C (n.*429A>C)
n.535A>C
c.343A>C (p.Thr115Pro)
c.1312A>C (p.Thr438Pro)
c.1309A>C (p.Thr437Pro)
c.1372A>C (p.Thr458Pro)
n.321A>C
c.361A>C (p.Thr121Pro)
c.1306A>C (p.Thr436Pro)
c.1258A>C (p.Thr420Pro)
n.689A>C
c.298A>C (p.Thr100Pro)
c.169A>C (p.Thr57Pro)
 ClinVar dbSNP
7g.44145225T=CA1703612684GCKc.*1307A= (n.*1307A=)
c.*429A= (n.*429A=)
n.535A=
c.343A= (p.Thr115=)
c.1312A= (p.Thr438=)
c.1309A= (p.Thr437=)
c.1372A= (p.Thr458=)
n.321A=
c.361A= (p.Thr121=)
c.1306A= (p.Thr436=)
c.1258A= (p.Thr420=)
n.689A=
c.298A= (p.Thr100=)
c.169A= (p.Thr57=)
7g.44145227_44145238delCA2580617739GCKc.*1296_*1307del (n.*1296_*1307del)
c.*418_*429del (n.*418_*429del)
n.524_535del
c.332_343del (p.Ser111_Ile114del)
c.1301_1312del (p.Ser434_Ile437del)
c.1298_1309del (p.Ser433_Ile436del)
c.1361_1372del (p.Ser454_Ile457del)
n.310_321del
c.350_361del (p.Ser117_Ile120del)
c.1295_1306del (p.Ser432_Ile435del)
c.1247_1258del (p.Ser416_Ile419del)
n.678_689del
c.287_298del (p.Ser96_Ile99del)
c.158_169del (p.Ser53_Ile56del)
 ClinVar
7g.44145226G>ACA454606620GCKc.*1306C>T (n.*1306C>T)
c.*428C>T (n.*428C>T)
n.534C>T
c.342C>T (p.Ile114=)
c.1311C>T (p.Ile437=)
c.1308C>T (p.Ile436=)
c.1371C>T (p.Ile457=)
n.320C>T
c.360C>T (p.Ile120=)
c.1305C>T (p.Ile435=)
c.1257C>T (p.Ile419=)
n.688C>T
c.297C>T (p.Ile99=)
c.168C>T (p.Ile56=)
7g.44145226G>CCA367397087GCKc.*1306C>G (n.*1306C>G)
c.*428C>G (n.*428C>G)
n.534C>G
c.342C>G (p.Ile114Met)
c.1311C>G (p.Ile437Met)
c.1308C>G (p.Ile436Met)
c.1371C>G (p.Ile457Met)
n.320C>G
c.360C>G (p.Ile120Met)
c.1305C>G (p.Ile435Met)
c.1257C>G (p.Ile419Met)
n.688C>G
c.297C>G (p.Ile99Met)
c.168C>G (p.Ile56Met)
7g.44145226G=CA1703612685GCKc.*1306C= (n.*1306C=)
c.*428C= (n.*428C=)
n.534C=
c.342C= (p.Ile114=)
c.1311C= (p.Ile437=)
c.1308C= (p.Ile436=)
c.1371C= (p.Ile457=)
n.320C=
c.360C= (p.Ile120=)
c.1305C= (p.Ile435=)
c.1257C= (p.Ile419=)
n.688C=
c.297C= (p.Ile99=)
c.168C= (p.Ile56=)
7g.44145226G>TCA454606622GCKc.*1306C>A (n.*1306C>A)
c.*428C>A (n.*428C>A)
n.534C>A
c.342C>A (p.Ile114=)
c.1311C>A (p.Ile437=)
c.1308C>A (p.Ile436=)
c.1371C>A (p.Ile457=)
n.320C>A
c.360C>A (p.Ile120=)
c.1305C>A (p.Ile435=)
c.1257C>A (p.Ile419=)
n.688C>A
c.297C>A (p.Ile99=)
c.168C>A (p.Ile56=)
 dbSNP gnomAD v2
7g.44145227A=CA1703612686GCKc.*1305T= (n.*1305T=)
c.*427T= (n.*427T=)
n.533T=
c.341T= (p.Ile114=)
c.1310T= (p.Ile437=)
c.1307T= (p.Ile436=)
c.1370T= (p.Ile457=)
n.319T=
c.359T= (p.Ile120=)
c.1304T= (p.Ile435=)
c.1256T= (p.Ile419=)
n.687T=
c.296T= (p.Ile99=)
c.167T= (p.Ile56=)
7g.44145227A>CCA367397089GCKc.*1305T>G (n.*1305T>G)
c.*427T>G (n.*427T>G)
n.533T>G
c.341T>G (p.Ile114Ser)
c.1310T>G (p.Ile437Ser)
c.1307T>G (p.Ile436Ser)
c.1370T>G (p.Ile457Ser)
n.319T>G
c.359T>G (p.Ile120Ser)
c.1304T>G (p.Ile435Ser)
c.1256T>G (p.Ile419Ser)
n.687T>G
c.296T>G (p.Ile99Ser)
c.167T>G (p.Ile56Ser)
7g.44145227A>GCA367397091GCKc.*1305T>C (n.*1305T>C)
c.*427T>C (n.*427T>C)
n.533T>C
c.341T>C (p.Ile114Thr)
c.1310T>C (p.Ile437Thr)
c.1307T>C (p.Ile436Thr)
c.1370T>C (p.Ile457Thr)
n.319T>C
c.359T>C (p.Ile120Thr)
c.1304T>C (p.Ile435Thr)
c.1256T>C (p.Ile419Thr)
n.687T>C
c.296T>C (p.Ile99Thr)
c.167T>C (p.Ile56Thr)
7g.44145227A>TCA213751GCKc.*1305T>A (n.*1305T>A)
c.*427T>A (n.*427T>A)
n.533T>A
c.341T>A (p.Ile114Asn)
c.1310T>A (p.Ile437Asn)
c.1307T>A (p.Ile436Asn)
c.1370T>A (p.Ile457Asn)
n.319T>A
c.359T>A (p.Ile120Asn)
c.1304T>A (p.Ile435Asn)
c.1256T>A (p.Ile419Asn)
n.687T>A
c.296T>A (p.Ile99Asn)
c.167T>A (p.Ile56Asn)
 ClinVar dbSNP
7g.44145228T>ACA367397094GCKc.*1304A>T (n.*1304A>T)
c.*426A>T (n.*426A>T)
n.532A>T
c.340A>T (p.Ile114Phe)
c.1309A>T (p.Ile437Phe)
c.1306A>T (p.Ile436Phe)
c.1369A>T (p.Ile457Phe)
n.318A>T
c.358A>T (p.Ile120Phe)
c.1303A>T (p.Ile435Phe)
c.1255A>T (p.Ile419Phe)
n.686A>T
c.295A>T (p.Ile99Phe)
c.166A>T (p.Ile56Phe)
 ClinVar gnomAD v4
7g.44145228T>CCA4239380GCKc.*1304A>G (n.*1304A>G)
c.*426A>G (n.*426A>G)
n.532A>G
c.340A>G (p.Ile114Val)
c.1309A>G (p.Ile437Val)
c.1306A>G (p.Ile436Val)
c.1369A>G (p.Ile457Val)
n.318A>G
c.358A>G (p.Ile120Val)
c.1303A>G (p.Ile435Val)
c.1255A>G (p.Ile419Val)
n.686A>G
c.295A>G (p.Ile99Val)
c.166A>G (p.Ile56Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145228T>GCA367397096GCKc.*1304A>C (n.*1304A>C)
c.*426A>C (n.*426A>C)
n.532A>C
c.340A>C (p.Ile114Leu)
c.1309A>C (p.Ile437Leu)
c.1306A>C (p.Ile436Leu)
c.1369A>C (p.Ile457Leu)
n.318A>C
c.358A>C (p.Ile120Leu)
c.1303A>C (p.Ile435Leu)
c.1255A>C (p.Ile419Leu)
n.686A>C
c.295A>C (p.Ile99Leu)
c.166A>C (p.Ile56Leu)
7g.44145228T=CA1703612687GCKc.*1304A= (n.*1304A=)
c.*426A= (n.*426A=)
n.532A=
c.340A= (p.Ile114=)
c.1309A= (p.Ile437=)
c.1306A= (p.Ile436=)
c.1369A= (p.Ile457=)
n.318A=
c.358A= (p.Ile120=)
c.1303A= (p.Ile435=)
c.1255A= (p.Ile419=)
n.686A=
c.295A= (p.Ile99=)
c.166A= (p.Ile56=)
7g.44145228_44145231dupCA2573106066GCKc.*1301_*1304dup (n.*1301_*1304dup)
c.*423_*426dup (n.*423_*426dup)
n.529_532dup
c.337_340dup (p.Ile114ArgfsTer24)
c.1306_1309dup (p.Ile437ArgfsTer24)
c.1303_1306dup (p.Ile436ArgfsTer24)
c.1366_1369dup (p.Ile457ArgfsTer24)
n.315_318dup
c.1303_1306dup (p.Ile436ArgfsTer?)
c.355_358dup (p.Ile120ArgfsTer24)
c.1300_1303dup (p.Ile435ArgfsTer24)
c.1252_1255dup (p.Ile419ArgfsTer24)
n.683_686dup
c.292_295dup (p.Ile99ArgfsTer24)
c.163_166dup (p.Ile56ArgfsTer?)
c.163_166dup (p.Ile56ArgfsTer24)
 ClinVar
7g.44145229C>ACA367397099GCKc.*1303G>T (n.*1303G>T)
c.*425G>T (n.*425G>T)
n.531G>T
c.339G>T (p.Glu113Asp)
c.1308G>T (p.Glu436Asp)
c.1305G>T (p.Glu435Asp)
c.1368G>T (p.Glu456Asp)
n.317G>T
c.357G>T (p.Glu119Asp)
c.1302G>T (p.Glu434Asp)
c.1254G>T (p.Glu418Asp)
n.685G>T
c.294G>T (p.Glu98Asp)
c.165G>T (p.Glu55Asp)
7g.44145229C>GCA367397100GCKc.*1303G>C (n.*1303G>C)
c.*425G>C (n.*425G>C)
n.531G>C
c.339G>C (p.Glu113Asp)
c.1308G>C (p.Glu436Asp)
c.1305G>C (p.Glu435Asp)
c.1368G>C (p.Glu456Asp)
n.317G>C
c.357G>C (p.Glu119Asp)
c.1302G>C (p.Glu434Asp)
c.1254G>C (p.Glu418Asp)
n.685G>C
c.294G>C (p.Glu98Asp)
c.165G>C (p.Glu55Asp)
7g.44145229C>TCA454606639GCKc.*1303G>A (n.*1303G>A)
c.*425G>A (n.*425G>A)
n.531G>A
c.339G>A (p.Glu113=)
c.1308G>A (p.Glu436=)
c.1305G>A (p.Glu435=)
c.1368G>A (p.Glu456=)
n.317G>A
c.357G>A (p.Glu119=)
c.1302G>A (p.Glu434=)
c.1254G>A (p.Glu418=)
n.685G>A
c.294G>A (p.Glu98=)
c.165G>A (p.Glu55=)
7g.44145229dupCA2573106065GCKc.*1303dup (n.*1303dup)
c.*425dup (n.*425dup)
n.531dup
c.339dup (p.Ile114AspfsTer23)
c.1308dup (p.Ile437AspfsTer23)
c.1305dup (p.Ile436AspfsTer23)
c.1368dup (p.Ile457AspfsTer23)
n.317dup
c.1305dup (p.Ile436AspfsTer?)
c.357dup (p.Ile120AspfsTer23)
c.1302dup (p.Ile435AspfsTer23)
c.1254dup (p.Ile419AspfsTer23)
n.685dup
c.294dup (p.Ile99AspfsTer23)
c.165dup (p.Ile56AspfsTer?)
c.165dup (p.Ile56AspfsTer23)
 ClinVar
7g.44145230T>ACA367397102GCKc.*1302A>T (n.*1302A>T)
c.*424A>T (n.*424A>T)
n.530A>T
c.338A>T (p.Glu113Val)
c.1307A>T (p.Glu436Val)
c.1304A>T (p.Glu435Val)
c.1367A>T (p.Glu456Val)
n.316A>T
c.356A>T (p.Glu119Val)
c.1301A>T (p.Glu434Val)
c.1253A>T (p.Glu418Val)
n.684A>T
c.293A>T (p.Glu98Val)
c.164A>T (p.Glu55Val)
7g.44145230T>CCA501217GCKc.*1302A>G (n.*1302A>G)
c.*424A>G (n.*424A>G)
n.530A>G
c.338A>G (p.Glu113Gly)
c.1307A>G (p.Glu436Gly)
c.1304A>G (p.Glu435Gly)
c.1367A>G (p.Glu456Gly)
n.316A>G
c.356A>G (p.Glu119Gly)
c.1301A>G (p.Glu434Gly)
c.1253A>G (p.Glu418Gly)
n.684A>G
c.293A>G (p.Glu98Gly)
c.164A>G (p.Glu55Gly)
7g.44145230T>GCA367397105GCKc.*1302A>C (n.*1302A>C)
c.*424A>C (n.*424A>C)
n.530A>C
c.338A>C (p.Glu113Ala)
c.1307A>C (p.Glu436Ala)
c.1304A>C (p.Glu435Ala)
c.1367A>C (p.Glu456Ala)
n.316A>C
c.356A>C (p.Glu119Ala)
c.1301A>C (p.Glu434Ala)
c.1253A>C (p.Glu418Ala)
n.684A>C
c.293A>C (p.Glu98Ala)
c.164A>C (p.Glu55Ala)
7g.44145231C>ACA367397107GCKc.*1301G>T (n.*1301G>T)
c.*423G>T (n.*423G>T)
n.529G>T
c.337G>T (p.Glu113Ter)
c.1306G>T (p.Glu436Ter)
c.1303G>T (p.Glu435Ter)
c.1366G>T (p.Glu456Ter)
n.315G>T
c.355G>T (p.Glu119Ter)
c.1300G>T (p.Glu434Ter)
c.1252G>T (p.Glu418Ter)
n.683G>T
c.292G>T (p.Glu98Ter)
c.163G>T (p.Glu55Ter)
7g.44145231C=CA1703612688GCKc.*1301G= (n.*1301G=)
c.*423G= (n.*423G=)
n.529G=
c.337G= (p.Glu113=)
c.1306G= (p.Glu436=)
c.1303G= (p.Glu435=)
c.1366G= (p.Glu456=)
n.315G=
c.355G= (p.Glu119=)
c.1300G= (p.Glu434=)
c.1252G= (p.Glu418=)
n.683G=
c.292G= (p.Glu98=)
c.163G= (p.Glu55=)
7g.44145231C>GCA367397108GCKc.*1301G>C (n.*1301G>C)
c.*423G>C (n.*423G>C)
n.529G>C
c.337G>C (p.Glu113Gln)
c.1306G>C (p.Glu436Gln)
c.1303G>C (p.Glu435Gln)
c.1366G>C (p.Glu456Gln)
n.315G>C
c.355G>C (p.Glu119Gln)
c.1300G>C (p.Glu434Gln)
c.1252G>C (p.Glu418Gln)
n.683G>C
c.292G>C (p.Glu98Gln)
c.163G>C (p.Glu55Gln)
7g.44145231C>TCA367397110GCKc.*1301G>A (n.*1301G>A)
c.*423G>A (n.*423G>A)
n.529G>A
c.337G>A (p.Glu113Lys)
c.1306G>A (p.Glu436Lys)
c.1303G>A (p.Glu435Lys)
c.1366G>A (p.Glu456Lys)
n.315G>A
c.355G>A (p.Glu119Lys)
c.1300G>A (p.Glu434Lys)
c.1252G>A (p.Glu418Lys)
n.683G>A
c.292G>A (p.Glu98Lys)
c.163G>A (p.Glu55Lys)
 dbSNP gnomAD v4
7g.44145232G>ACA4239381GCKc.*1300C>T (n.*1300C>T)
c.*422C>T (n.*422C>T)
n.528C>T
c.336C>T (p.Cys112=)
c.1305C>T (p.Cys435=)
c.1302C>T (p.Cys434=)
c.1365C>T (p.Cys455=)
n.314C>T
c.354C>T (p.Cys118=)
c.1299C>T (p.Cys433=)
c.1251C>T (p.Cys417=)
n.682C>T
c.291C>T (p.Cys97=)
c.162C>T (p.Cys54=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145232G>CCA367397112GCKc.*1300C>G (n.*1300C>G)
c.*422C>G (n.*422C>G)
n.528C>G
c.336C>G (p.Cys112Trp)
c.1305C>G (p.Cys435Trp)
c.1302C>G (p.Cys434Trp)
c.1365C>G (p.Cys455Trp)
n.314C>G
c.354C>G (p.Cys118Trp)
c.1299C>G (p.Cys433Trp)
c.1251C>G (p.Cys417Trp)
n.682C>G
c.291C>G (p.Cys97Trp)
c.162C>G (p.Cys54Trp)
7g.44145232G=CA1703612689GCKc.*1300C= (n.*1300C=)
c.*422C= (n.*422C=)
n.528C=
c.336C= (p.Cys112=)
c.1305C= (p.Cys435=)
c.1302C= (p.Cys434=)
c.1365C= (p.Cys455=)
n.314C=
c.354C= (p.Cys118=)
c.1299C= (p.Cys433=)
c.1251C= (p.Cys417=)
n.682C=
c.291C= (p.Cys97=)
c.162C= (p.Cys54=)
7g.44145232G>TCA367397114GCKc.*1300C>A (n.*1300C>A)
c.*422C>A (n.*422C>A)
n.528C>A
c.336C>A (p.Cys112Ter)
c.1305C>A (p.Cys435Ter)
c.1302C>A (p.Cys434Ter)
c.1365C>A (p.Cys455Ter)
n.314C>A
c.354C>A (p.Cys118Ter)
c.1299C>A (p.Cys433Ter)
c.1251C>A (p.Cys417Ter)
n.682C>A
c.291C>A (p.Cys97Ter)
c.162C>A (p.Cys54Ter)
 ClinVar gnomAD v4
7g.44145233C>ACA367397119GCKc.*1299G>T (n.*1299G>T)
c.*421G>T (n.*421G>T)
n.527G>T
c.335G>T (p.Cys112Phe)
c.1304G>T (p.Cys435Phe)
c.1301G>T (p.Cys434Phe)
c.1364G>T (p.Cys455Phe)
n.313G>T
c.353G>T (p.Cys118Phe)
c.1298G>T (p.Cys433Phe)
c.1250G>T (p.Cys417Phe)
n.681G>T
c.290G>T (p.Cys97Phe)
c.161G>T (p.Cys54Phe)
7g.44145233C>GCA367397120GCKc.*1299G>C (n.*1299G>C)
c.*421G>C (n.*421G>C)
n.527G>C
c.335G>C (p.Cys112Ser)
c.1304G>C (p.Cys435Ser)
c.1301G>C (p.Cys434Ser)
c.1364G>C (p.Cys455Ser)
n.313G>C
c.353G>C (p.Cys118Ser)
c.1298G>C (p.Cys433Ser)
c.1250G>C (p.Cys417Ser)
n.681G>C
c.290G>C (p.Cys97Ser)
c.161G>C (p.Cys54Ser)
7g.44145233C>TCA367397117GCKc.*1299G>A (n.*1299G>A)
c.*421G>A (n.*421G>A)
n.527G>A
c.335G>A (p.Cys112Tyr)
c.1304G>A (p.Cys435Tyr)
c.1301G>A (p.Cys434Tyr)
c.1364G>A (p.Cys455Tyr)
n.313G>A
c.353G>A (p.Cys118Tyr)
c.1298G>A (p.Cys433Tyr)
c.1250G>A (p.Cys417Tyr)
n.681G>A
c.290G>A (p.Cys97Tyr)
c.161G>A (p.Cys54Tyr)
7g.44145234A>CCA367397123GCKc.*1298T>G (n.*1298T>G)
c.*420T>G (n.*420T>G)
n.526T>G
c.334T>G (p.Cys112Gly)
c.1303T>G (p.Cys435Gly)
c.1300T>G (p.Cys434Gly)
c.1363T>G (p.Cys455Gly)
n.312T>G
c.352T>G (p.Cys118Gly)
c.1297T>G (p.Cys433Gly)
c.1249T>G (p.Cys417Gly)
n.680T>G
c.289T>G (p.Cys97Gly)
c.160T>G (p.Cys54Gly)
7g.44145234A>GCA367397125GCKc.*1298T>C (n.*1298T>C)
c.*420T>C (n.*420T>C)
n.526T>C
c.334T>C (p.Cys112Arg)
c.1303T>C (p.Cys435Arg)
c.1300T>C (p.Cys434Arg)
c.1363T>C (p.Cys455Arg)
n.312T>C
c.352T>C (p.Cys118Arg)
c.1297T>C (p.Cys433Arg)
c.1249T>C (p.Cys417Arg)
n.680T>C
c.289T>C (p.Cys97Arg)
c.160T>C (p.Cys54Arg)
7g.44145234A>TCA367397126GCKc.*1298T>A (n.*1298T>A)
c.*420T>A (n.*420T>A)
n.526T>A
c.334T>A (p.Cys112Ser)
c.1303T>A (p.Cys435Ser)
c.1300T>A (p.Cys434Ser)
c.1363T>A (p.Cys455Ser)
n.312T>A
c.352T>A (p.Cys118Ser)
c.1297T>A (p.Cys433Ser)
c.1249T>A (p.Cys417Ser)
n.680T>A
c.289T>A (p.Cys97Ser)
c.160T>A (p.Cys54Ser)
7g.44145234_44145237dupCA1139771343GCKc.*1295_*1298dup (n.*1295_*1298dup)
c.*417_*420dup (n.*417_*420dup)
n.523_526dup
c.331_334dup (p.Cys112Ter)
c.1300_1303dup (p.Cys435Ter)
c.1297_1300dup (p.Cys434Ter)
c.1360_1363dup (p.Cys455Ter)
n.309_312dup
c.349_352dup (p.Cys118Ter)
c.1294_1297dup (p.Cys433Ter)
c.1246_1249dup (p.Cys417Ter)
n.677_680dup
c.286_289dup (p.Cys97Ter)
c.157_160dup (p.Cys54Ter)
 ClinVar
7g.44145235G>ACA454606654GCKc.*1297C>T (n.*1297C>T)
c.*419C>T (n.*419C>T)
n.525C>T
c.333C>T (p.Ser111=)
c.1302C>T (p.Ser434=)
c.1299C>T (p.Ser433=)
c.1362C>T (p.Ser454=)
n.311C>T
c.351C>T (p.Ser117=)
c.1296C>T (p.Ser432=)
c.1248C>T (p.Ser416=)
n.679C>T
c.288C>T (p.Ser96=)
c.159C>T (p.Ser53=)
7g.44145235G>CCA367397129GCKc.*1297C>G (n.*1297C>G)
c.*419C>G (n.*419C>G)
n.525C>G
c.333C>G (p.Ser111Arg)
c.1302C>G (p.Ser434Arg)
c.1299C>G (p.Ser433Arg)
c.1362C>G (p.Ser454Arg)
n.311C>G
c.351C>G (p.Ser117Arg)
c.1296C>G (p.Ser432Arg)
c.1248C>G (p.Ser416Arg)
n.679C>G
c.288C>G (p.Ser96Arg)
c.159C>G (p.Ser53Arg)
7g.44145235G>TCA367397131GCKc.*1297C>A (n.*1297C>A)
c.*419C>A (n.*419C>A)
n.525C>A
c.333C>A (p.Ser111Arg)
c.1302C>A (p.Ser434Arg)
c.1299C>A (p.Ser433Arg)
c.1362C>A (p.Ser454Arg)
n.311C>A
c.351C>A (p.Ser117Arg)
c.1296C>A (p.Ser432Arg)
c.1248C>A (p.Ser416Arg)
n.679C>A
c.288C>A (p.Ser96Arg)
c.159C>A (p.Ser53Arg)
7g.44145236C>ACA367397137GCKc.*1296G>T (n.*1296G>T)
c.*418G>T (n.*418G>T)
n.524G>T
c.332G>T (p.Ser111Ile)
c.1301G>T (p.Ser434Ile)
c.1298G>T (p.Ser433Ile)
c.1361G>T (p.Ser454Ile)
n.310G>T
c.350G>T (p.Ser117Ile)
c.1295G>T (p.Ser432Ile)
c.1247G>T (p.Ser416Ile)
n.678G>T
c.287G>T (p.Ser96Ile)
c.158G>T (p.Ser53Ile)
7g.44145236C>GCA367397135GCKc.*1296G>C (n.*1296G>C)
c.*418G>C (n.*418G>C)
n.524G>C
c.332G>C (p.Ser111Thr)
c.1301G>C (p.Ser434Thr)
c.1298G>C (p.Ser433Thr)
c.1361G>C (p.Ser454Thr)
n.310G>C
c.350G>C (p.Ser117Thr)
c.1295G>C (p.Ser432Thr)
c.1247G>C (p.Ser416Thr)
n.678G>C
c.287G>C (p.Ser96Thr)
c.158G>C (p.Ser53Thr)
7g.44145236C>TCA367397133GCKc.*1296G>A (n.*1296G>A)
c.*418G>A (n.*418G>A)
n.524G>A
c.332G>A (p.Ser111Asn)
c.1301G>A (p.Ser434Asn)
c.1298G>A (p.Ser433Asn)
c.1361G>A (p.Ser454Asn)
n.310G>A
c.350G>A (p.Ser117Asn)
c.1295G>A (p.Ser432Asn)
c.1247G>A (p.Ser416Asn)
n.678G>A
c.287G>A (p.Ser96Asn)
c.158G>A (p.Ser53Asn)
 COSMIC COSMIC COSMIC
7g.44145237T>ACA367397138GCKc.*1295A>T (n.*1295A>T)
c.*417A>T (n.*417A>T)
n.523A>T
c.331A>T (p.Ser111Cys)
c.1300A>T (p.Ser434Cys)
c.1297A>T (p.Ser433Cys)
c.1360A>T (p.Ser454Cys)
n.309A>T
c.349A>T (p.Ser117Cys)
c.1294A>T (p.Ser432Cys)
c.1246A>T (p.Ser416Cys)
n.677A>T
c.286A>T (p.Ser96Cys)
c.157A>T (p.Ser53Cys)
7g.44145237T>CCA367397139GCKc.*1295A>G (n.*1295A>G)
c.*417A>G (n.*417A>G)
n.523A>G
c.331A>G (p.Ser111Gly)
c.1300A>G (p.Ser434Gly)
c.1297A>G (p.Ser433Gly)
c.1360A>G (p.Ser454Gly)
n.309A>G
c.349A>G (p.Ser117Gly)
c.1294A>G (p.Ser432Gly)
c.1246A>G (p.Ser416Gly)
n.677A>G
c.286A>G (p.Ser96Gly)
c.157A>G (p.Ser53Gly)
7g.44145237T>GCA367397140GCKc.*1295A>C (n.*1295A>C)
c.*417A>C (n.*417A>C)
n.523A>C
c.331A>C (p.Ser111Arg)
c.1300A>C (p.Ser434Arg)
c.1297A>C (p.Ser433Arg)
c.1360A>C (p.Ser454Arg)
n.309A>C
c.349A>C (p.Ser117Arg)
c.1294A>C (p.Ser432Arg)
c.1246A>C (p.Ser416Arg)
n.677A>C
c.286A>C (p.Ser96Arg)
c.157A>C (p.Ser53Arg)
7g.44145237_44145239delinsCGGCCA1139771354GCKc.*1293_*1295delinsGCCG (n.*1293_*1295delinsGCCG)
c.*415_*417delinsGCCG (n.*415_*417delinsGCCG)
n.521_523delinsGCCG
c.329_331delinsGCCG (p.Pro110ArgfsTer27)
c.1298_1300delinsGCCG (p.Pro433ArgfsTer27)
c.1295_1297delinsGCCG (p.Pro432ArgfsTer27)
c.1358_1360delinsGCCG (p.Pro453ArgfsTer27)
n.307_309delinsGCCG
c.1295_1297delinsGCCG (p.Pro432ArgfsTer?)
c.347_349delinsGCCG (p.Pro116ArgfsTer27)
c.1292_1294delinsGCCG (p.Pro431ArgfsTer27)
c.1244_1246delinsGCCG (p.Pro415ArgfsTer27)
n.675_677delinsGCCG
c.284_286delinsGCCG (p.Pro95ArgfsTer27)
c.155_157delinsGCCG (p.Pro52ArgfsTer?)
c.155_157delinsGCCG (p.Pro52ArgfsTer27)
 ClinVar
7g.44145238G>ACA454606670GCKc.*1294C>T (n.*1294C>T)
c.*416C>T (n.*416C>T)
n.522C>T
c.330C>T (p.Pro110=)
c.1299C>T (p.Pro433=)
c.1296C>T (p.Pro432=)
c.1359C>T (p.Pro453=)
n.308C>T
c.348C>T (p.Pro116=)
c.1293C>T (p.Pro431=)
c.1245C>T (p.Pro415=)
n.676C>T
c.285C>T (p.Pro95=)
c.156C>T (p.Pro52=)
 gnomAD v4
7g.44145238G>CCA454606672GCKc.*1294C>G (n.*1294C>G)
c.*416C>G (n.*416C>G)
n.522C>G
c.330C>G (p.Pro110=)
c.1299C>G (p.Pro433=)
c.1296C>G (p.Pro432=)
c.1359C>G (p.Pro453=)
n.308C>G
c.348C>G (p.Pro116=)
c.1293C>G (p.Pro431=)
c.1245C>G (p.Pro415=)
n.676C>G
c.285C>G (p.Pro95=)
c.156C>G (p.Pro52=)
7g.44145238G>TCA454606674GCKc.*1294C>A (n.*1294C>A)
c.*416C>A (n.*416C>A)
n.522C>A
c.330C>A (p.Pro110=)
c.1299C>A (p.Pro433=)
c.1296C>A (p.Pro432=)
c.1359C>A (p.Pro453=)
n.308C>A
c.348C>A (p.Pro116=)
c.1293C>A (p.Pro431=)
c.1245C>A (p.Pro415=)
n.676C>A
c.285C>A (p.Pro95=)
c.156C>A (p.Pro52=)
 gnomAD v4
7g.44145239G>ACA367397142GCKc.*1293C>T (n.*1293C>T)
c.*415C>T (n.*415C>T)
n.521C>T
c.329C>T (p.Pro110Leu)
c.1298C>T (p.Pro433Leu)
c.1295C>T (p.Pro432Leu)
c.1358C>T (p.Pro453Leu)
n.307C>T
c.347C>T (p.Pro116Leu)
c.1292C>T (p.Pro431Leu)
c.1244C>T (p.Pro415Leu)
n.675C>T
c.284C>T (p.Pro95Leu)
c.155C>T (p.Pro52Leu)
7g.44145239G>CCA367397144GCKc.*1293C>G (n.*1293C>G)
c.*415C>G (n.*415C>G)
n.521C>G
c.329C>G (p.Pro110Arg)
c.1298C>G (p.Pro433Arg)
c.1295C>G (p.Pro432Arg)
c.1358C>G (p.Pro453Arg)
n.307C>G
c.347C>G (p.Pro116Arg)
c.1292C>G (p.Pro431Arg)
c.1244C>G (p.Pro415Arg)
n.675C>G
c.284C>G (p.Pro95Arg)
c.155C>G (p.Pro52Arg)
7g.44145239G>TCA367397146GCKc.*1293C>A (n.*1293C>A)
c.*415C>A (n.*415C>A)
n.521C>A
c.329C>A (p.Pro110His)
c.1298C>A (p.Pro433His)
c.1295C>A (p.Pro432His)
c.1358C>A (p.Pro453His)
n.307C>A
c.347C>A (p.Pro116His)
c.1292C>A (p.Pro431His)
c.1244C>A (p.Pro415His)
n.675C>A
c.284C>A (p.Pro95His)
c.155C>A (p.Pro52His)
7g.44145240G>ACA367397148GCKc.*1292C>T (n.*1292C>T)
c.*414C>T (n.*414C>T)
n.520C>T
c.328C>T (p.Pro110Ser)
c.1297C>T (p.Pro433Ser)
c.1294C>T (p.Pro432Ser)
c.1357C>T (p.Pro453Ser)
n.306C>T
c.346C>T (p.Pro116Ser)
c.1291C>T (p.Pro431Ser)
c.1243C>T (p.Pro415Ser)
n.674C>T
c.283C>T (p.Pro95Ser)
c.154C>T (p.Pro52Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.44145240G>CCA367397152GCKc.*1292C>G (n.*1292C>G)
c.*414C>G (n.*414C>G)
n.520C>G
c.328C>G (p.Pro110Ala)
c.1297C>G (p.Pro433Ala)
c.1294C>G (p.Pro432Ala)
c.1357C>G (p.Pro453Ala)
n.306C>G
c.346C>G (p.Pro116Ala)
c.1291C>G (p.Pro431Ala)
c.1243C>G (p.Pro415Ala)
n.674C>G
c.283C>G (p.Pro95Ala)
c.154C>G (p.Pro52Ala)
7g.44145240G=CA1703612690GCKc.*1292C= (n.*1292C=)
c.*414C= (n.*414C=)
n.520C=
c.328C= (p.Pro110=)
c.1297C= (p.Pro433=)
c.1294C= (p.Pro432=)
c.1357C= (p.Pro453=)
n.306C=
c.346C= (p.Pro116=)
c.1291C= (p.Pro431=)
c.1243C= (p.Pro415=)
n.674C=
c.283C= (p.Pro95=)
c.154C= (p.Pro52=)
7g.44145240G>TCA367397150GCKc.*1292C>A (n.*1292C>A)
c.*414C>A (n.*414C>A)
n.520C>A
c.328C>A (p.Pro110Thr)
c.1297C>A (p.Pro433Thr)
c.1294C>A (p.Pro432Thr)
c.1357C>A (p.Pro453Thr)
n.306C>A
c.346C>A (p.Pro116Thr)
c.1291C>A (p.Pro431Thr)
c.1243C>A (p.Pro415Thr)
n.674C>A
c.283C>A (p.Pro95Thr)
c.154C>A (p.Pro52Thr)
7g.44145241C>ACA454606687GCKc.*1291G>T (n.*1291G>T)
c.*413G>T (n.*413G>T)
n.519G>T
c.327G>T (p.Thr109=)
c.1296G>T (p.Thr432=)
c.1293G>T (p.Thr431=)
c.1356G>T (p.Thr452=)
n.305G>T
c.345G>T (p.Thr115=)
c.1290G>T (p.Thr430=)
c.1242G>T (p.Thr414=)
n.673G>T
c.282G>T (p.Thr94=)
c.153G>T (p.Thr51=)
 gnomAD v4
7g.44145241C=CA1703612691GCKc.*1291G= (n.*1291G=)
c.*413G= (n.*413G=)
n.519G=
c.327G= (p.Thr109=)
c.1296G= (p.Thr432=)
c.1293G= (p.Thr431=)
c.1356G= (p.Thr452=)
n.305G=
c.345G= (p.Thr115=)
c.1290G= (p.Thr430=)
c.1242G= (p.Thr414=)
n.673G=
c.282G= (p.Thr94=)
c.153G= (p.Thr51=)
7g.44145241C>GCA4239382GCKc.*1291G>C (n.*1291G>C)
c.*413G>C (n.*413G>C)
n.519G>C
c.327G>C (p.Thr109=)
c.1296G>C (p.Thr432=)
c.1293G>C (p.Thr431=)
c.1356G>C (p.Thr452=)
n.305G>C
c.345G>C (p.Thr115=)
c.1290G>C (p.Thr430=)
c.1242G>C (p.Thr414=)
n.673G>C
c.282G>C (p.Thr94=)
c.153G>C (p.Thr51=)
 dbSNP ExAC gnomAD v2
7g.44145241C>TCA454606689GCKc.*1291G>A (n.*1291G>A)
c.*413G>A (n.*413G>A)
n.519G>A
c.327G>A (p.Thr109=)
c.1296G>A (p.Thr432=)
c.1293G>A (p.Thr431=)
c.1356G>A (p.Thr452=)
n.305G>A
c.345G>A (p.Thr115=)
c.1290G>A (p.Thr430=)
c.1242G>A (p.Thr414=)
n.673G>A
c.282G>A (p.Thr94=)
c.153G>A (p.Thr51=)
 dbSNP gnomAD v2 gnomAD v4
7g.44145242_44145248delCA2695202960GCKc.*1285_*1291del (n.*1285_*1291del)
c.*407_*413del (n.*407_*413del)
n.513_519del
c.321_327del (p.Arg107SerfsTer?)
c.1290_1296del (p.Arg430SerfsTer?)
c.1287_1293del (p.Arg429SerfsTer?)
c.1350_1356del (p.Arg450SerfsTer?)
n.299_305del
c.339_345del (p.Arg113SerfsTer?)
c.1284_1290del (p.Arg428SerfsTer?)
c.1236_1242del (p.Arg412SerfsTer?)
n.667_673del
c.276_282del (p.Arg92SerfsTer?)
c.147_153del (p.Arg49SerfsTer?)
7g.44145242G>ACA367397156GCKc.*1290C>T (n.*1290C>T)
c.*412C>T (n.*412C>T)
n.518C>T
c.326C>T (p.Thr109Met)
c.1295C>T (p.Thr432Met)
c.1292C>T (p.Thr431Met)
c.1355C>T (p.Thr452Met)
n.304C>T
c.344C>T (p.Thr115Met)
c.1289C>T (p.Thr430Met)
c.1241C>T (p.Thr414Met)
n.672C>T
c.281C>T (p.Thr94Met)
c.152C>T (p.Thr51Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44145242G>CCA367397157GCKc.*1290C>G (n.*1290C>G)
c.*412C>G (n.*412C>G)
n.518C>G
c.326C>G (p.Thr109Arg)
c.1295C>G (p.Thr432Arg)
c.1292C>G (p.Thr431Arg)
c.1355C>G (p.Thr452Arg)
n.304C>G
c.344C>G (p.Thr115Arg)
c.1289C>G (p.Thr430Arg)
c.1241C>G (p.Thr414Arg)
n.672C>G
c.281C>G (p.Thr94Arg)
c.152C>G (p.Thr51Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.44145242G=CA1703612692GCKc.*1290C= (n.*1290C=)
c.*412C= (n.*412C=)
n.518C=
c.326C= (p.Thr109=)
c.1295C= (p.Thr432=)
c.1292C= (p.Thr431=)
c.1355C= (p.Thr452=)
n.304C=
c.344C= (p.Thr115=)
c.1289C= (p.Thr430=)
c.1241C= (p.Thr414=)
n.672C=
c.281C= (p.Thr94=)
c.152C= (p.Thr51=)
7g.44145242G>TCA367397159GCKc.*1290C>A (n.*1290C>A)
c.*412C>A (n.*412C>A)
n.518C>A
c.326C>A (p.Thr109Lys)
c.1295C>A (p.Thr432Lys)
c.1292C>A (p.Thr431Lys)
c.1355C>A (p.Thr452Lys)
n.304C>A
c.344C>A (p.Thr115Lys)
c.1289C>A (p.Thr430Lys)
c.1241C>A (p.Thr414Lys)
n.672C>A
c.281C>A (p.Thr94Lys)
c.152C>A (p.Thr51Lys)
7g.44145243T>ACA367397161GCKc.*1289A>T (n.*1289A>T)
c.*411A>T (n.*411A>T)
n.517A>T
c.325A>T (p.Thr109Ser)
c.1294A>T (p.Thr432Ser)
c.1291A>T (p.Thr431Ser)
c.1354A>T (p.Thr452Ser)
n.303A>T
c.343A>T (p.Thr115Ser)
c.1288A>T (p.Thr430Ser)
c.1240A>T (p.Thr414Ser)
n.671A>T
c.280A>T (p.Thr94Ser)
c.151A>T (p.Thr51Ser)
7g.44145243T>CCA4239383GCKc.*1289A>G (n.*1289A>G)
c.*411A>G (n.*411A>G)
n.517A>G
c.325A>G (p.Thr109Ala)
c.1294A>G (p.Thr432Ala)
c.1291A>G (p.Thr431Ala)
c.1354A>G (p.Thr452Ala)
n.303A>G
c.343A>G (p.Thr115Ala)
c.1288A>G (p.Thr430Ala)
c.1240A>G (p.Thr414Ala)
n.671A>G
c.280A>G (p.Thr94Ala)
c.151A>G (p.Thr51Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145243T>GCA367397164GCKc.*1289A>C (n.*1289A>C)
c.*411A>C (n.*411A>C)
n.517A>C
c.325A>C (p.Thr109Pro)
c.1294A>C (p.Thr432Pro)
c.1291A>C (p.Thr431Pro)
c.1354A>C (p.Thr452Pro)
n.303A>C
c.343A>C (p.Thr115Pro)
c.1288A>C (p.Thr430Pro)
c.1240A>C (p.Thr414Pro)
n.671A>C
c.280A>C (p.Thr94Pro)
c.151A>C (p.Thr51Pro)
7g.44145243T=CA1703612693GCKc.*1289A= (n.*1289A=)
c.*411A= (n.*411A=)
n.517A=
c.325A= (p.Thr109=)
c.1294A= (p.Thr432=)
c.1291A= (p.Thr431=)
c.1354A= (p.Thr452=)
n.303A=
c.343A= (p.Thr115=)
c.1288A= (p.Thr430=)
c.1240A= (p.Thr414=)
n.671A=
c.280A= (p.Thr94=)
c.151A= (p.Thr51=)
7g.44145244C>ACA454606690GCKc.*1288G>T (n.*1288G>T)
c.*410G>T (n.*410G>T)
n.516G>T
c.324G>T (p.Leu108=)
c.1293G>T (p.Leu431=)
c.1290G>T (p.Leu430=)
c.1353G>T (p.Leu451=)
n.302G>T
c.342G>T (p.Leu114=)
c.1287G>T (p.Leu429=)
c.1239G>T (p.Leu413=)
n.670G>T
c.279G>T (p.Leu93=)
c.150G>T (p.Leu50=)
7g.44145244C>GCA454606691GCKc.*1288G>C (n.*1288G>C)
c.*410G>C (n.*410G>C)
n.516G>C
c.324G>C (p.Leu108=)
c.1293G>C (p.Leu431=)
c.1290G>C (p.Leu430=)
c.1353G>C (p.Leu451=)
n.302G>C
c.342G>C (p.Leu114=)
c.1287G>C (p.Leu429=)
c.1239G>C (p.Leu413=)
n.670G>C
c.279G>C (p.Leu93=)
c.150G>C (p.Leu50=)
7g.44145244C>TCA454606692GCKc.*1288G>A (n.*1288G>A)
c.*410G>A (n.*410G>A)
n.516G>A
c.324G>A (p.Leu108=)
c.1293G>A (p.Leu431=)
c.1290G>A (p.Leu430=)
c.1353G>A (p.Leu451=)
n.302G>A
c.342G>A (p.Leu114=)
c.1287G>A (p.Leu429=)
c.1239G>A (p.Leu413=)
n.670G>A
c.279G>A (p.Leu93=)
c.150G>A (p.Leu50=)
 gnomAD v4
7g.44145245_44145247delCA2695202961GCKc.*1286_*1288del (n.*1286_*1288del)
c.*408_*410del (n.*408_*410del)
n.514_516del
c.322_324del (p.Leu108del)
c.1291_1293del (p.Leu431del)
c.1288_1290del (p.Leu430del)
c.1351_1353del (p.Leu451del)
n.300_302del
c.340_342del (p.Leu114del)
c.1285_1287del (p.Leu429del)
c.1237_1239del (p.Leu413del)
n.668_670del
c.277_279del (p.Leu93del)
c.148_150del (p.Leu50del)
7g.44145245A=CA1703612694GCKc.*1287T= (n.*1287T=)
c.*409T= (n.*409T=)
n.515T=
c.323T= (p.Leu108=)
c.1292T= (p.Leu431=)
c.1289T= (p.Leu430=)
c.1352T= (p.Leu451=)
n.301T=
c.341T= (p.Leu114=)
c.1286T= (p.Leu429=)
c.1238T= (p.Leu413=)
n.669T=
c.278T= (p.Leu93=)
c.149T= (p.Leu50=)
7g.44145245A>CCA367397166GCKc.*1287T>G (n.*1287T>G)
c.*409T>G (n.*409T>G)
n.515T>G
c.323T>G (p.Leu108Arg)
c.1292T>G (p.Leu431Arg)
c.1289T>G (p.Leu430Arg)
c.1352T>G (p.Leu451Arg)
n.301T>G
c.341T>G (p.Leu114Arg)
c.1286T>G (p.Leu429Arg)
c.1238T>G (p.Leu413Arg)
n.669T>G
c.278T>G (p.Leu93Arg)
c.149T>G (p.Leu50Arg)
7g.44145245A>GCA213749GCKc.*1287T>C (n.*1287T>C)
c.*409T>C (n.*409T>C)
n.515T>C
c.323T>C (p.Leu108Pro)
c.1292T>C (p.Leu431Pro)
c.1289T>C (p.Leu430Pro)
c.1352T>C (p.Leu451Pro)
n.301T>C
c.341T>C (p.Leu114Pro)
c.1286T>C (p.Leu429Pro)
c.1238T>C (p.Leu413Pro)
n.669T>C
c.278T>C (p.Leu93Pro)
c.149T>C (p.Leu50Pro)
 ClinVar dbSNP
7g.44145245A>TCA367397169GCKc.*1287T>A (n.*1287T>A)
c.*409T>A (n.*409T>A)
n.515T>A
c.323T>A (p.Leu108Gln)
c.1292T>A (p.Leu431Gln)
c.1289T>A (p.Leu430Gln)
c.1352T>A (p.Leu451Gln)
n.301T>A
c.341T>A (p.Leu114Gln)
c.1286T>A (p.Leu429Gln)
c.1238T>A (p.Leu413Gln)
n.669T>A
c.278T>A (p.Leu93Gln)
c.149T>A (p.Leu50Gln)
7g.44145246G>ACA213747GCKc.*1286C>T (n.*1286C>T)
c.*408C>T (n.*408C>T)
n.514C>T
c.322C>T (p.Leu108=)
c.1291C>T (p.Leu431=)
c.1288C>T (p.Leu430=)
c.1351C>T (p.Leu451=)
n.300C>T
c.340C>T (p.Leu114=)
c.1285C>T (p.Leu429=)
c.1237C>T (p.Leu413=)
n.668C>T
c.277C>T (p.Leu93=)
c.148C>T (p.Leu50=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145246G>CCA367397172GCKc.*1286C>G (n.*1286C>G)
c.*408C>G (n.*408C>G)
n.514C>G
c.322C>G (p.Leu108Val)
c.1291C>G (p.Leu431Val)
c.1288C>G (p.Leu430Val)
c.1351C>G (p.Leu451Val)
n.300C>G
c.340C>G (p.Leu114Val)
c.1285C>G (p.Leu429Val)
c.1237C>G (p.Leu413Val)
n.668C>G
c.277C>G (p.Leu93Val)
c.148C>G (p.Leu50Val)
 ClinVar
7g.44145246G=CA1703612695GCKc.*1286C= (n.*1286C=)
c.*408C= (n.*408C=)
n.514C=
c.322C= (p.Leu108=)
c.1291C= (p.Leu431=)
c.1288C= (p.Leu430=)
c.1351C= (p.Leu451=)
n.300C=
c.340C= (p.Leu114=)
c.1285C= (p.Leu429=)
c.1237C= (p.Leu413=)
n.668C=
c.277C= (p.Leu93=)
c.148C= (p.Leu50=)
7g.44145246G>TCA367397173GCKc.*1286C>A (n.*1286C>A)
c.*408C>A (n.*408C>A)
n.514C>A
c.322C>A (p.Leu108Met)
c.1291C>A (p.Leu431Met)
c.1288C>A (p.Leu430Met)
c.1351C>A (p.Leu451Met)
n.300C>A
c.340C>A (p.Leu114Met)
c.1285C>A (p.Leu429Met)
c.1237C>A (p.Leu413Met)
n.668C>A
c.277C>A (p.Leu93Met)
c.148C>A (p.Leu50Met)
7g.44145247C>ACA367397175GCKc.*1285G>T (n.*1285G>T)
c.*407G>T (n.*407G>T)
n.513G>T
c.321G>T (p.Arg107Ser)
c.1290G>T (p.Arg430Ser)
c.1287G>T (p.Arg429Ser)
c.1350G>T (p.Arg450Ser)
n.299G>T
c.339G>T (p.Arg113Ser)
c.1284G>T (p.Arg428Ser)
c.1236G>T (p.Arg412Ser)
n.667G>T
c.276G>T (p.Arg92Ser)
c.147G>T (p.Arg49Ser)
7g.44145247C=CA1703612696GCKc.*1285G= (n.*1285G=)
c.*407G= (n.*407G=)
n.513G=
c.321G= (p.Arg107=)
c.1290G= (p.Arg430=)
c.1287G= (p.Arg429=)
c.1350G= (p.Arg450=)
n.299G=
c.339G= (p.Arg113=)
c.1284G= (p.Arg428=)
c.1236G= (p.Arg412=)
n.667G=
c.276G= (p.Arg92=)
c.147G= (p.Arg49=)
7g.44145247C>GCA367397177GCKc.*1285G>C (n.*1285G>C)
c.*407G>C (n.*407G>C)
n.513G>C
c.321G>C (p.Arg107Ser)
c.1290G>C (p.Arg430Ser)
c.1287G>C (p.Arg429Ser)
c.1350G>C (p.Arg450Ser)
n.299G>C
c.339G>C (p.Arg113Ser)
c.1284G>C (p.Arg428Ser)
c.1236G>C (p.Arg412Ser)
n.667G>C
c.276G>C (p.Arg92Ser)
c.147G>C (p.Arg49Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44145247C>TCA454606693GCKc.*1285G>A (n.*1285G>A)
c.*407G>A (n.*407G>A)
n.513G>A
c.321G>A (p.Arg107=)
c.1290G>A (p.Arg430=)
c.1287G>A (p.Arg429=)
c.1350G>A (p.Arg450=)
n.299G>A
c.339G>A (p.Arg113=)
c.1284G>A (p.Arg428=)
c.1236G>A (p.Arg412=)
n.667G>A
c.276G>A (p.Arg92=)
c.147G>A (p.Arg49=)
 dbSNP gnomAD v2
7g.44145248C>ACA367397179GCKc.*1284G>T (n.*1284G>T)
c.*406G>T (n.*406G>T)
n.512G>T
c.320G>T (p.Arg107Met)
c.1289G>T (p.Arg430Met)
c.1286G>T (p.Arg429Met)
c.1349G>T (p.Arg450Met)
n.298G>T
c.338G>T (p.Arg113Met)
c.1283G>T (p.Arg428Met)
c.1235G>T (p.Arg412Met)
n.666G>T
c.275G>T (p.Arg92Met)
c.146G>T (p.Arg49Met)
7g.44145248C=CA1703612697GCKc.*1284G= (n.*1284G=)
c.*406G= (n.*406G=)
n.512G=
c.320G= (p.Arg107=)
c.1289G= (p.Arg430=)
c.1286G= (p.Arg429=)
c.1349G= (p.Arg450=)
n.298G=
c.338G= (p.Arg113=)
c.1283G= (p.Arg428=)
c.1235G= (p.Arg412=)
n.666G=
c.275G= (p.Arg92=)
c.146G= (p.Arg49=)
7g.44145248C>GCA367397181GCKc.*1284G>C (n.*1284G>C)
c.*406G>C (n.*406G>C)
n.512G>C
c.320G>C (p.Arg107Thr)
c.1289G>C (p.Arg430Thr)
c.1286G>C (p.Arg429Thr)
c.1349G>C (p.Arg450Thr)
n.298G>C
c.338G>C (p.Arg113Thr)
c.1283G>C (p.Arg428Thr)
c.1235G>C (p.Arg412Thr)
n.666G>C
c.275G>C (p.Arg92Thr)
c.146G>C (p.Arg49Thr)
7g.44145248C>TCA4239384GCKc.*1284G>A (n.*1284G>A)
c.*406G>A (n.*406G>A)
n.512G>A
c.320G>A (p.Arg107Lys)
c.1289G>A (p.Arg430Lys)
c.1286G>A (p.Arg429Lys)
c.1349G>A (p.Arg450Lys)
n.298G>A
c.338G>A (p.Arg113Lys)
c.1283G>A (p.Arg428Lys)
c.1235G>A (p.Arg412Lys)
n.666G>A
c.275G>A (p.Arg92Lys)
c.146G>A (p.Arg49Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145251_44145259dupCA2695202964GCKc.*1276_*1284dup (n.*1276_*1284dup)
c.*398_*406dup (n.*398_*406dup)
n.504_512dup
c.312_320dup (p.Arg106_Arg107insSerValArg)
c.1281_1289dup (p.Arg429_Arg430insSerValArg)
c.1278_1286dup (p.Arg428_Arg429insSerValArg)
c.1341_1349dup (p.Arg449_Arg450insSerValArg)
n.290_298dup
c.330_338dup (p.Arg112_Arg113insSerValArg)
c.1275_1283dup (p.Arg427_Arg428insSerValArg)
c.1227_1235dup (p.Arg411_Arg412insSerValArg)
n.658_666dup
c.267_275dup (p.Arg91_Arg92insSerValArg)
c.138_146dup (p.Arg48_Arg49insSerValArg)
7g.44145251_44145259delCA2695202963GCKc.*1276_*1284del (n.*1276_*1284del)
c.*398_*406del (n.*398_*406del)
n.504_512del
c.312_320del (p.Ser104_Arg106del)
c.1281_1289del (p.Ser427_Arg429del)
c.1278_1286del (p.Ser426_Arg428del)
c.1341_1349del (p.Ser447_Arg449del)
n.290_298del
c.330_338del (p.Ser110_Arg112del)
c.1275_1283del (p.Ser425_Arg427del)
c.1227_1235del (p.Ser409_Arg411del)
n.658_666del
c.267_275del (p.Ser89_Arg91del)
c.138_146del (p.Ser46_Arg48del)
7g.44145249T>ACA367397183GCKc.*1283A>T (n.*1283A>T)
c.*405A>T (n.*405A>T)
n.511A>T
c.319A>T (p.Arg107Trp)
c.1288A>T (p.Arg430Trp)
c.1285A>T (p.Arg429Trp)
c.1348A>T (p.Arg450Trp)
n.297A>T
c.337A>T (p.Arg113Trp)
c.1282A>T (p.Arg428Trp)
c.1234A>T (p.Arg412Trp)
n.665A>T
c.274A>T (p.Arg92Trp)
c.145A>T (p.Arg49Trp)
7g.44145249T>CCA367397186GCKc.*1283A>G (n.*1283A>G)
c.*405A>G (n.*405A>G)
n.511A>G
c.319A>G (p.Arg107Gly)
c.1288A>G (p.Arg430Gly)
c.1285A>G (p.Arg429Gly)
c.1348A>G (p.Arg450Gly)
n.297A>G
c.337A>G (p.Arg113Gly)
c.1282A>G (p.Arg428Gly)
c.1234A>G (p.Arg412Gly)
n.665A>G
c.274A>G (p.Arg92Gly)
c.145A>G (p.Arg49Gly)
 gnomAD v4
7g.44145249T>GCA213745GCKc.*1283A>C (n.*1283A>C)
c.*405A>C (n.*405A>C)
n.511A>C
c.319A>C (p.Arg107=)
c.1288A>C (p.Arg430=)
c.1285A>C (p.Arg429=)
c.1348A>C (p.Arg450=)
n.297A>C
c.337A>C (p.Arg113=)
c.1282A>C (p.Arg428=)
c.1234A>C (p.Arg412=)
n.665A>C
c.274A>C (p.Arg92=)
c.145A>C (p.Arg49=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145249T=CA1703612699GCKc.*1283A= (n.*1283A=)
c.*405A= (n.*405A=)
n.511A=
c.319A= (p.Arg107=)
c.1288A= (p.Arg430=)
c.1285A= (p.Arg429=)
c.1348A= (p.Arg450=)
n.297A=
c.337A= (p.Arg113=)
c.1282A= (p.Arg428=)
c.1234A= (p.Arg412=)
n.665A=
c.274A= (p.Arg92=)
c.145A= (p.Arg49=)
7g.44145249_44145251delinsTGCCA1703612698GCKc.*1281_*1283delinsGCA (n.*1281_*1283delinsGCA)
c.*403_*405delinsGCA (n.*403_*405delinsGCA)
n.509_511delinsGCA
c.317_319delinsGCA (p.Arg106=)
c.1286_1288delinsGCA (p.Arg429=)
c.1283_1285delinsGCA (p.Arg428=)
c.1346_1348delinsGCA (p.Arg449=)
n.295_297delinsGCA
c.335_337delinsGCA (p.Arg112=)
c.1280_1282delinsGCA (p.Arg427=)
c.1232_1234delinsGCA (p.Arg411=)
n.663_665delinsGCA
c.272_274delinsGCA (p.Arg91=)
c.143_145delinsGCA (p.Arg48=)
7g.44145250G>ACA454606695GCKc.*1282C>T (n.*1282C>T)
c.*404C>T (n.*404C>T)
n.510C>T
c.318C>T (p.Arg106=)
c.1287C>T (p.Arg429=)
c.1284C>T (p.Arg428=)
c.1347C>T (p.Arg449=)
n.296C>T
c.336C>T (p.Arg112=)
c.1281C>T (p.Arg427=)
c.1233C>T (p.Arg411=)
n.664C>T
c.273C>T (p.Arg91=)
c.144C>T (p.Arg48=)
7g.44145250G>CCA454606694GCKc.*1282C>G (n.*1282C>G)
c.*404C>G (n.*404C>G)
n.510C>G
c.318C>G (p.Arg106=)
c.1287C>G (p.Arg429=)
c.1284C>G (p.Arg428=)
c.1347C>G (p.Arg449=)
n.296C>G
c.336C>G (p.Arg112=)
c.1281C>G (p.Arg427=)
c.1233C>G (p.Arg411=)
n.664C>G
c.273C>G (p.Arg91=)
c.144C>G (p.Arg48=)
7g.44145250G=CA1703612700GCKc.*1282C= (n.*1282C=)
c.*404C= (n.*404C=)
n.510C=
c.318C= (p.Arg106=)
c.1287C= (p.Arg429=)
c.1284C= (p.Arg428=)
c.1347C= (p.Arg449=)
n.296C=
c.336C= (p.Arg112=)
c.1281C= (p.Arg427=)
c.1233C= (p.Arg411=)
n.664C=
c.273C= (p.Arg91=)
c.144C= (p.Arg48=)
7g.44145250G>TCA4239385GCKc.*1282C>A (n.*1282C>A)
c.*404C>A (n.*404C>A)
n.510C>A
c.318C>A (p.Arg106=)
c.1287C>A (p.Arg429=)
c.1284C>A (p.Arg428=)
c.1347C>A (p.Arg449=)
n.296C>A
c.336C>A (p.Arg112=)
c.1281C>A (p.Arg427=)
c.1233C>A (p.Arg411=)
n.664C>A
c.273C>A (p.Arg91=)
c.144C>A (p.Arg48=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145252_44145253delCA213744GCKc.*1281_*1282del (n.*1281_*1282del)
c.*403_*404del (n.*403_*404del)
n.509_510del
c.317_318del (p.Arg106GlnfsTer30)
c.1286_1287del (p.Arg429GlnfsTer30)
c.1283_1284del (p.Arg428GlnfsTer30)
c.1346_1347del (p.Arg449GlnfsTer30)
n.295_296del
c.1283_1284del (p.Arg428GlnfsTer?)
c.335_336del (p.Arg112GlnfsTer30)
c.1280_1281del (p.Arg427GlnfsTer30)
c.1232_1233del (p.Arg411GlnfsTer30)
n.663_664del
c.272_273del (p.Arg91GlnfsTer30)
c.143_144del (p.Arg48GlnfsTer?)
c.143_144del (p.Arg48GlnfsTer30)
 ClinVar dbSNP
7g.44145251C>ACA367397188GCKc.*1281G>T (n.*1281G>T)
c.*403G>T (n.*403G>T)
n.509G>T
c.317G>T (p.Arg106Leu)
c.1286G>T (p.Arg429Leu)
c.1283G>T (p.Arg428Leu)
c.1346G>T (p.Arg449Leu)
n.295G>T
c.335G>T (p.Arg112Leu)
c.1280G>T (p.Arg427Leu)
c.1232G>T (p.Arg411Leu)
n.663G>T
c.272G>T (p.Arg91Leu)
c.143G>T (p.Arg48Leu)
7g.44145251C=CA1703612701GCKc.*1281G= (n.*1281G=)
c.*403G= (n.*403G=)
n.509G=
c.317G= (p.Arg106=)
c.1286G= (p.Arg429=)
c.1283G= (p.Arg428=)
c.1346G= (p.Arg449=)
n.295G=
c.335G= (p.Arg112=)
c.1280G= (p.Arg427=)
c.1232G= (p.Arg411=)
n.663G=
c.272G= (p.Arg91=)
c.143G= (p.Arg48=)
7g.44145251C>GCA367397191GCKc.*1281G>C (n.*1281G>C)
c.*403G>C (n.*403G>C)
n.509G>C
c.317G>C (p.Arg106Pro)
c.1286G>C (p.Arg429Pro)
c.1283G>C (p.Arg428Pro)
c.1346G>C (p.Arg449Pro)
n.295G>C
c.335G>C (p.Arg112Pro)
c.1280G>C (p.Arg427Pro)
c.1232G>C (p.Arg411Pro)
n.663G>C
c.272G>C (p.Arg91Pro)
c.143G>C (p.Arg48Pro)
7g.44145251C>TCA367397190GCKc.*1281G>A (n.*1281G>A)
c.*403G>A (n.*403G>A)
n.509G>A
c.317G>A (p.Arg106His)
c.1286G>A (p.Arg429His)
c.1283G>A (p.Arg428His)
c.1346G>A (p.Arg449His)
n.295G>A
c.335G>A (p.Arg112His)
c.1280G>A (p.Arg427His)
c.1232G>A (p.Arg411His)
n.663G>A
c.272G>A (p.Arg91His)
c.143G>A (p.Arg48His)
 dbSNP gnomAD v2 gnomAD v4
7g.44145254_44145257dupCA1139660055GCKc.*1278_*1281dup (n.*1278_*1281dup)
c.*400_*403dup (n.*400_*403dup)
n.506_509dup
c.314_317dup (p.Arg107AlafsTer31)
c.1283_1286dup (p.Arg430AlafsTer31)
c.1280_1283dup (p.Arg429AlafsTer31)
c.1343_1346dup (p.Arg450AlafsTer31)
n.292_295dup
c.1280_1283dup (p.Arg429AlafsTer?)
c.332_335dup (p.Arg113AlafsTer31)
c.1277_1280dup (p.Arg428AlafsTer31)
c.1229_1232dup (p.Arg412AlafsTer31)
n.660_663dup
c.269_272dup (p.Arg92AlafsTer31)
c.140_143dup (p.Arg49AlafsTer?)
c.140_143dup (p.Arg49AlafsTer31)
 ClinVar dbSNP
7g.44145252G>ACA4239386GCKc.*1280C>T (n.*1280C>T)
c.*402C>T (n.*402C>T)
n.508C>T
c.316C>T (p.Arg106Cys)
c.1285C>T (p.Arg429Cys)
c.1282C>T (p.Arg428Cys)
c.1345C>T (p.Arg449Cys)
n.294C>T
c.334C>T (p.Arg112Cys)
c.1279C>T (p.Arg427Cys)
c.1231C>T (p.Arg411Cys)
n.662C>T
c.271C>T (p.Arg91Cys)
c.142C>T (p.Arg48Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
7g.44145252G>CCA367397196GCKc.*1280C>G (n.*1280C>G)
c.*402C>G (n.*402C>G)
n.508C>G
c.316C>G (p.Arg106Gly)
c.1285C>G (p.Arg429Gly)
c.1282C>G (p.Arg428Gly)
c.1345C>G (p.Arg449Gly)
n.294C>G
c.334C>G (p.Arg112Gly)
c.1279C>G (p.Arg427Gly)
c.1231C>G (p.Arg411Gly)
n.662C>G
c.271C>G (p.Arg91Gly)
c.142C>G (p.Arg48Gly)
7g.44145252G=CA1703612702GCKc.*1280C= (n.*1280C=)
c.*402C= (n.*402C=)
n.508C=
c.316C= (p.Arg106=)
c.1285C= (p.Arg429=)
c.1282C= (p.Arg428=)
c.1345C= (p.Arg449=)
n.294C=
c.334C= (p.Arg112=)
c.1279C= (p.Arg427=)
c.1231C= (p.Arg411=)
n.662C=
c.271C= (p.Arg91=)
c.142C= (p.Arg48=)
7g.44145252G>TCA367397195GCKc.*1280C>A (n.*1280C>A)
c.*402C>A (n.*402C>A)
n.508C>A
c.316C>A (p.Arg106Ser)
c.1285C>A (p.Arg429Ser)
c.1282C>A (p.Arg428Ser)
c.1345C>A (p.Arg449Ser)
n.294C>A
c.334C>A (p.Arg112Ser)
c.1279C>A (p.Arg427Ser)
c.1231C>A (p.Arg411Ser)
n.662C>A
c.271C>A (p.Arg91Ser)
c.142C>A (p.Arg48Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.44145253C>ACA454606696GCKc.*1279G>T (n.*1279G>T)
c.*401G>T (n.*401G>T)
n.507G>T
c.315G>T (p.Val105=)
c.1284G>T (p.Val428=)
c.1281G>T (p.Val427=)
c.1344G>T (p.Val448=)
n.293G>T
c.333G>T (p.Val111=)
c.1278G>T (p.Val426=)
c.1230G>T (p.Val410=)
n.661G>T
c.270G>T (p.Val90=)
c.141G>T (p.Val47=)
7g.44145253C=CA1703612703GCKc.*1279G= (n.*1279G=)
c.*401G= (n.*401G=)
n.507G=
c.315G= (p.Val105=)
c.1284G= (p.Val428=)
c.1281G= (p.Val427=)
c.1344G= (p.Val448=)
n.293G=
c.333G= (p.Val111=)
c.1278G= (p.Val426=)
c.1230G= (p.Val410=)
n.661G=
c.270G= (p.Val90=)
c.141G= (p.Val47=)
7g.44145253C>GCA454606697GCKc.*1279G>C (n.*1279G>C)
c.*401G>C (n.*401G>C)
n.507G>C
c.315G>C (p.Val105=)
c.1284G>C (p.Val428=)
c.1281G>C (p.Val427=)
c.1344G>C (p.Val448=)
n.293G>C
c.333G>C (p.Val111=)
c.1278G>C (p.Val426=)
c.1230G>C (p.Val410=)
n.661G>C
c.270G>C (p.Val90=)
c.141G>C (p.Val47=)
7g.44145253C>TCA4239387GCKc.*1279G>A (n.*1279G>A)
c.*401G>A (n.*401G>A)
n.507G>A
c.315G>A (p.Val105=)
c.1284G>A (p.Val428=)
c.1281G>A (p.Val427=)
c.1344G>A (p.Val448=)
n.293G>A
c.333G>A (p.Val111=)
c.1278G>A (p.Val426=)
c.1230G>A (p.Val410=)
n.661G>A
c.270G>A (p.Val90=)
c.141G>A (p.Val47=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145254A=CA1703612704GCKc.*1278T= (n.*1278T=)
c.*400T= (n.*400T=)
n.506T=
c.314T= (p.Val105=)
c.1283T= (p.Val428=)
c.1280T= (p.Val427=)
c.1343T= (p.Val448=)
n.292T=
c.332T= (p.Val111=)
c.1277T= (p.Val426=)
c.1229T= (p.Val410=)
n.660T=
c.269T= (p.Val90=)
c.140T= (p.Val47=)
7g.44145254A>CCA367397199GCKc.*1278T>G (n.*1278T>G)
c.*400T>G (n.*400T>G)
n.506T>G
c.314T>G (p.Val105Gly)
c.1283T>G (p.Val428Gly)
c.1280T>G (p.Val427Gly)
c.1343T>G (p.Val448Gly)
n.292T>G
c.332T>G (p.Val111Gly)
c.1277T>G (p.Val426Gly)
c.1229T>G (p.Val410Gly)
n.660T>G
c.269T>G (p.Val90Gly)
c.140T>G (p.Val47Gly)
 ClinVar dbSNP
7g.44145254A>GCA367397201GCKc.*1278T>C (n.*1278T>C)
c.*400T>C (n.*400T>C)
n.506T>C
c.314T>C (p.Val105Ala)
c.1283T>C (p.Val428Ala)
c.1280T>C (p.Val427Ala)
c.1343T>C (p.Val448Ala)
n.292T>C
c.332T>C (p.Val111Ala)
c.1277T>C (p.Val426Ala)
c.1229T>C (p.Val410Ala)
n.660T>C
c.269T>C (p.Val90Ala)
c.140T>C (p.Val47Ala)
7g.44145254A>TCA367397202GCKc.*1278T>A (n.*1278T>A)
c.*400T>A (n.*400T>A)
n.506T>A
c.314T>A (p.Val105Glu)
c.1283T>A (p.Val428Glu)
c.1280T>A (p.Val427Glu)
c.1343T>A (p.Val448Glu)
n.292T>A
c.332T>A (p.Val111Glu)
c.1277T>A (p.Val426Glu)
c.1229T>A (p.Val410Glu)
n.660T>A
c.269T>A (p.Val90Glu)
c.140T>A (p.Val47Glu)
7g.44145255C>ACA367397205GCKc.*1277G>T (n.*1277G>T)
c.*399G>T (n.*399G>T)
n.505G>T
c.313G>T (p.Val105Leu)
c.1282G>T (p.Val428Leu)
c.1279G>T (p.Val427Leu)
c.1342G>T (p.Val448Leu)
n.291G>T
c.331G>T (p.Val111Leu)
c.1276G>T (p.Val426Leu)
c.1228G>T (p.Val410Leu)
n.659G>T
c.268G>T (p.Val90Leu)
c.139G>T (p.Val47Leu)
7g.44145255C>GCA367397206GCKc.*1277G>C (n.*1277G>C)
c.*399G>C (n.*399G>C)
n.505G>C
c.313G>C (p.Val105Leu)
c.1282G>C (p.Val428Leu)
c.1279G>C (p.Val427Leu)
c.1342G>C (p.Val448Leu)
n.291G>C
c.331G>C (p.Val111Leu)
c.1276G>C (p.Val426Leu)
c.1228G>C (p.Val410Leu)
n.659G>C
c.268G>C (p.Val90Leu)
c.139G>C (p.Val47Leu)
7g.44145255C>TCA367397208GCKc.*1277G>A (n.*1277G>A)
c.*399G>A (n.*399G>A)
n.505G>A
c.313G>A (p.Val105Met)
c.1282G>A (p.Val428Met)
c.1279G>A (p.Val427Met)
c.1342G>A (p.Val448Met)
n.291G>A
c.331G>A (p.Val111Met)
c.1276G>A (p.Val426Met)
c.1228G>A (p.Val410Met)
n.659G>A
c.268G>A (p.Val90Met)
c.139G>A (p.Val47Met)
 gnomAD v4
7g.44145256_44145257delCA1139771800GCKc.*1276_*1277del (n.*1276_*1277del)
c.*398_*399del (n.*398_*399del)
n.504_505del
c.312_313del (p.Val105AlafsTer?)
c.1281_1282del (p.Val428AlafsTer?)
c.1278_1279del (p.Val427AlafsTer?)
c.1341_1342del (p.Val448AlafsTer?)
n.290_291del
c.330_331del (p.Val111AlafsTer?)
c.1275_1276del (p.Val426AlafsTer?)
c.1227_1228del (p.Val410AlafsTer?)
n.658_659del
c.267_268del (p.Val90AlafsTer?)
c.138_139del (p.Val47AlafsTer?)
 ClinVar dbSNP
7g.44145256G>ACA454606700GCKc.*1276C>T (n.*1276C>T)
c.*398C>T (n.*398C>T)
n.504C>T
c.312C>T (p.Ser104=)
c.1281C>T (p.Ser427=)
c.1278C>T (p.Ser426=)
c.1341C>T (p.Ser447=)
n.290C>T
c.330C>T (p.Ser110=)
c.1275C>T (p.Ser425=)
c.1227C>T (p.Ser409=)
n.658C>T
c.267C>T (p.Ser89=)
c.138C>T (p.Ser46=)
 gnomAD v4
7g.44145256G>CCA367397210GCKc.*1276C>G (n.*1276C>G)
c.*398C>G (n.*398C>G)
n.504C>G
c.312C>G (p.Ser104Arg)
c.1281C>G (p.Ser427Arg)
c.1278C>G (p.Ser426Arg)
c.1341C>G (p.Ser447Arg)
n.290C>G
c.330C>G (p.Ser110Arg)
c.1275C>G (p.Ser425Arg)
c.1227C>G (p.Ser409Arg)
n.658C>G
c.267C>G (p.Ser89Arg)
c.138C>G (p.Ser46Arg)
 gnomAD v4
7g.44145256G>TCA367397212GCKc.*1276C>A (n.*1276C>A)
c.*398C>A (n.*398C>A)
n.504C>A
c.312C>A (p.Ser104Arg)
c.1281C>A (p.Ser427Arg)
c.1278C>A (p.Ser426Arg)
c.1341C>A (p.Ser447Arg)
n.290C>A
c.330C>A (p.Ser110Arg)
c.1275C>A (p.Ser425Arg)
c.1227C>A (p.Ser409Arg)
n.658C>A
c.267C>A (p.Ser89Arg)
c.138C>A (p.Ser46Arg)
7g.44145257C>ACA367397214GCKc.*1275G>T (n.*1275G>T)
c.*397G>T (n.*397G>T)
n.503G>T
c.311G>T (p.Ser104Ile)
c.1280G>T (p.Ser427Ile)
c.1277G>T (p.Ser426Ile)
c.1340G>T (p.Ser447Ile)
n.289G>T
c.329G>T (p.Ser110Ile)
c.1274G>T (p.Ser425Ile)
c.1226G>T (p.Ser409Ile)
n.657G>T
c.266G>T (p.Ser89Ile)
c.137G>T (p.Ser46Ile)
7g.44145257C>GCA367397216GCKc.*1275G>C (n.*1275G>C)
c.*397G>C (n.*397G>C)
n.503G>C
c.311G>C (p.Ser104Thr)
c.1280G>C (p.Ser427Thr)
c.1277G>C (p.Ser426Thr)
c.1340G>C (p.Ser447Thr)
n.289G>C
c.329G>C (p.Ser110Thr)
c.1274G>C (p.Ser425Thr)
c.1226G>C (p.Ser409Thr)
n.657G>C
c.266G>C (p.Ser89Thr)
c.137G>C (p.Ser46Thr)
 gnomAD v4
7g.44145257C>TCA367397217GCKc.*1275G>A (n.*1275G>A)
c.*397G>A (n.*397G>A)
n.503G>A
c.311G>A (p.Ser104Asn)
c.1280G>A (p.Ser427Asn)
c.1277G>A (p.Ser426Asn)
c.1340G>A (p.Ser447Asn)
n.289G>A
c.329G>A (p.Ser110Asn)
c.1274G>A (p.Ser425Asn)
c.1226G>A (p.Ser409Asn)
n.657G>A
c.266G>A (p.Ser89Asn)
c.137G>A (p.Ser46Asn)
7g.44145258T>ACA367397219GCKc.*1274A>T (n.*1274A>T)
c.*396A>T (n.*396A>T)
n.502A>T
c.310A>T (p.Ser104Cys)
c.1279A>T (p.Ser427Cys)
c.1276A>T (p.Ser426Cys)
c.1339A>T (p.Ser447Cys)
n.288A>T
c.328A>T (p.Ser110Cys)
c.1273A>T (p.Ser425Cys)
c.1225A>T (p.Ser409Cys)
n.656A>T
c.265A>T (p.Ser89Cys)
c.136A>T (p.Ser46Cys)
7g.44145258T>CCA367397222GCKc.*1274A>G (n.*1274A>G)
c.*396A>G (n.*396A>G)
n.502A>G
c.310A>G (p.Ser104Gly)
c.1279A>G (p.Ser427Gly)
c.1276A>G (p.Ser426Gly)
c.1339A>G (p.Ser447Gly)
n.288A>G
c.328A>G (p.Ser110Gly)
c.1273A>G (p.Ser425Gly)
c.1225A>G (p.Ser409Gly)
n.656A>G
c.265A>G (p.Ser89Gly)
c.136A>G (p.Ser46Gly)
 gnomAD v4
7g.44145258T>GCA367397221GCKc.*1274A>C (n.*1274A>C)
c.*396A>C (n.*396A>C)
n.502A>C
c.310A>C (p.Ser104Arg)
c.1279A>C (p.Ser427Arg)
c.1276A>C (p.Ser426Arg)
c.1339A>C (p.Ser447Arg)
n.288A>C
c.328A>C (p.Ser110Arg)
c.1273A>C (p.Ser425Arg)
c.1225A>C (p.Ser409Arg)
n.656A>C
c.265A>C (p.Ser89Arg)
c.136A>C (p.Ser46Arg)
7g.44145259G>ACA454606701GCKc.*1273C>T (n.*1273C>T)
c.*395C>T (n.*395C>T)
n.501C>T
c.309C>T (p.Ala103=)
c.1278C>T (p.Ala426=)
c.1275C>T (p.Ala425=)
c.1338C>T (p.Ala446=)
n.287C>T
c.327C>T (p.Ala109=)
c.1272C>T (p.Ala424=)
c.1224C>T (p.Ala408=)
n.655C>T
c.264C>T (p.Ala88=)
c.135C>T (p.Ala45=)
7g.44145259G>CCA454606702GCKc.*1273C>G (n.*1273C>G)
c.*395C>G (n.*395C>G)
n.501C>G
c.309C>G (p.Ala103=)
c.1278C>G (p.Ala426=)
c.1275C>G (p.Ala425=)
c.1338C>G (p.Ala446=)
n.287C>G
c.327C>G (p.Ala109=)
c.1272C>G (p.Ala424=)
c.1224C>G (p.Ala408=)
n.655C>G
c.264C>G (p.Ala88=)
c.135C>G (p.Ala45=)
7g.44145259G>TCA454606703GCKc.*1273C>A (n.*1273C>A)
c.*395C>A (n.*395C>A)
n.501C>A
c.309C>A (p.Ala103=)
c.1278C>A (p.Ala426=)
c.1275C>A (p.Ala425=)
c.1338C>A (p.Ala446=)
n.287C>A
c.327C>A (p.Ala109=)
c.1272C>A (p.Ala424=)
c.1224C>A (p.Ala408=)
n.655C>A
c.264C>A (p.Ala88=)
c.135C>A (p.Ala45=)
7g.44145260G>ACA367397224GCKc.*1272C>T (n.*1272C>T)
c.*394C>T (n.*394C>T)
n.500C>T
c.308C>T (p.Ala103Val)
c.1277C>T (p.Ala426Val)
c.1274C>T (p.Ala425Val)
c.1337C>T (p.Ala446Val)
n.286C>T
c.326C>T (p.Ala109Val)
c.1271C>T (p.Ala424Val)
c.1223C>T (p.Ala408Val)
n.654C>T
c.263C>T (p.Ala88Val)
c.134C>T (p.Ala45Val)
 dbSNP gnomAD v3 gnomAD v4
7g.44145260G>CCA367397226GCKc.*1272C>G (n.*1272C>G)
c.*394C>G (n.*394C>G)
n.500C>G
c.308C>G (p.Ala103Gly)
c.1277C>G (p.Ala426Gly)
c.1274C>G (p.Ala425Gly)
c.1337C>G (p.Ala446Gly)
n.286C>G
c.326C>G (p.Ala109Gly)
c.1271C>G (p.Ala424Gly)
c.1223C>G (p.Ala408Gly)
n.654C>G
c.263C>G (p.Ala88Gly)
c.134C>G (p.Ala45Gly)
7g.44145260G=CA1703612705GCKc.*1272C= (n.*1272C=)
c.*394C= (n.*394C=)
n.500C=
c.308C= (p.Ala103=)
c.1277C= (p.Ala426=)
c.1274C= (p.Ala425=)
c.1337C= (p.Ala446=)
n.286C=
c.326C= (p.Ala109=)
c.1271C= (p.Ala424=)
c.1223C= (p.Ala408=)
n.654C=
c.263C= (p.Ala88=)
c.134C= (p.Ala45=)
7g.44145260G>TCA367397228GCKc.*1272C>A (n.*1272C>A)
c.*394C>A (n.*394C>A)
n.500C>A
c.308C>A (p.Ala103Asp)
c.1277C>A (p.Ala426Asp)
c.1274C>A (p.Ala425Asp)
c.1337C>A (p.Ala446Asp)
n.286C>A
c.326C>A (p.Ala109Asp)
c.1271C>A (p.Ala424Asp)
c.1223C>A (p.Ala408Asp)
n.654C>A
c.263C>A (p.Ala88Asp)
c.134C>A (p.Ala45Asp)
 gnomAD v4
7g.44145260_44145261insTACGCTTCGCCACTGATACGACCGACGGGGCGGTACTTTTTCTCATCAGCCTCATCAAAATAGAGCATATCCAGTTCTTCCCGATGCTCTTCGCGGCAGCTGGCCCTGACGTCTTCAGGGATGCTCTCA2740837468GCKc.*1271_*1272insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (n.*1271_*1272insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA)
c.*393_*394insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (n.*393_*394insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA)
n.499_500insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA
c.307_308insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala103GlufsTer?)
c.1276_1277insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala426GlufsTer?)
c.1273_1274insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala425GlufsTer?)
c.1336_1337insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala446GlufsTer?)
n.285_286insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA
c.325_326insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala109GlufsTer?)
c.1270_1271insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala424GlufsTer?)
c.1222_1223insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala408GlufsTer?)
n.653_654insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA
c.262_263insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala88GlufsTer?)
c.133_134insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala45GlufsTer?)
7g.44145261C>ACA367397230GCKc.*1271G>T (n.*1271G>T)
c.*393G>T (n.*393G>T)
n.499G>T
c.307G>T (p.Ala103Ser)
c.1276G>T (p.Ala426Ser)
c.1273G>T (p.Ala425Ser)
c.1336G>T (p.Ala446Ser)
n.285G>T
c.325G>T (p.Ala109Ser)
c.1270G>T (p.Ala424Ser)
c.1222G>T (p.Ala408Ser)
n.653G>T
c.262G>T (p.Ala88Ser)
c.133G>T (p.Ala45Ser)
7g.44145261C>GCA367397232GCKc.*1271G>C (n.*1271G>C)
c.*393G>C (n.*393G>C)
n.499G>C
c.307G>C (p.Ala103Pro)
c.1276G>C (p.Ala426Pro)
c.1273G>C (p.Ala425Pro)
c.1336G>C (p.Ala446Pro)
n.285G>C
c.325G>C (p.Ala109Pro)
c.1270G>C (p.Ala424Pro)
c.1222G>C (p.Ala408Pro)
n.653G>C
c.262G>C (p.Ala88Pro)
c.133G>C (p.Ala45Pro)
7g.44145261C>TCA367397233GCKc.*1271G>A (n.*1271G>A)
c.*393G>A (n.*393G>A)
n.499G>A
c.307G>A (p.Ala103Thr)
c.1276G>A (p.Ala426Thr)
c.1273G>A (p.Ala425Thr)
c.1336G>A (p.Ala446Thr)
n.285G>A
c.325G>A (p.Ala109Thr)
c.1270G>A (p.Ala424Thr)
c.1222G>A (p.Ala408Thr)
n.653G>A
c.262G>A (p.Ala88Thr)
c.133G>A (p.Ala45Thr)
 gnomAD v4
7g.44145261_44145269delinsATGAAGGTGGCTCGCACA1139771342GCKc.*1263_*1271delinsTGCGAGCCACCTTCAT (n.*1263_*1271delinsTGCGAGCCACCTTCAT)
c.*385_*393delinsTGCGAGCCACCTTCAT (n.*385_*393delinsTGCGAGCCACCTTCAT)
n.491_499delinsTGCGAGCCACCTTCAT
c.299_307delinsTGCGAGCCACCTTCAT (p.Arg100LeufsTer?)
c.1268_1276delinsTGCGAGCCACCTTCAT (p.Arg423LeufsTer?)
c.1265_1273delinsTGCGAGCCACCTTCAT (p.Arg422LeufsTer?)
c.1328_1336delinsTGCGAGCCACCTTCAT (p.Arg443LeufsTer?)
n.277_285delinsTGCGAGCCACCTTCAT
c.317_325delinsTGCGAGCCACCTTCAT (p.Arg106LeufsTer?)
c.1262_1270delinsTGCGAGCCACCTTCAT (p.Arg421LeufsTer?)
c.1214_1222delinsTGCGAGCCACCTTCAT (p.Arg405LeufsTer?)
n.645_653delinsTGCGAGCCACCTTCAT
c.254_262delinsTGCGAGCCACCTTCAT (p.Arg85LeufsTer?)
c.125_133delinsTGCGAGCCACCTTCAT (p.Arg42LeufsTer?)
 ClinVar
7g.44145262A=CA1703612706GCKc.*1270T= (n.*1270T=)
c.*392T= (n.*392T=)
n.498T=
c.306T= (p.His102=)
c.1275T= (p.His425=)
c.1272T= (p.His424=)
c.1335T= (p.His445=)
n.284T=
c.324T= (p.His108=)
c.1269T= (p.His423=)
c.1221T= (p.His407=)
n.652T=
c.261T= (p.His87=)
c.132T= (p.His44=)
7g.44145262A>CCA367397235GCKc.*1270T>G (n.*1270T>G)
c.*392T>G (n.*392T>G)
n.498T>G
c.306T>G (p.His102Gln)
c.1275T>G (p.His425Gln)
c.1272T>G (p.His424Gln)
c.1335T>G (p.His445Gln)
n.284T>G
c.324T>G (p.His108Gln)
c.1269T>G (p.His423Gln)
c.1221T>G (p.His407Gln)
n.652T>G
c.261T>G (p.His87Gln)
c.132T>G (p.His44Gln)
7g.44145262A>GCA4239388GCKc.*1270T>C (n.*1270T>C)
c.*392T>C (n.*392T>C)
n.498T>C
c.306T>C (p.His102=)
c.1275T>C (p.His425=)
c.1272T>C (p.His424=)
c.1335T>C (p.His445=)
n.284T>C
c.324T>C (p.His108=)
c.1269T>C (p.His423=)
c.1221T>C (p.His407=)
n.652T>C
c.261T>C (p.His87=)
c.132T>C (p.His44=)
 dbSNP ExAC gnomAD v2
7g.44145262A>TCA367397236GCKc.*1270T>A (n.*1270T>A)
c.*392T>A (n.*392T>A)
n.498T>A
c.306T>A (p.His102Gln)
c.1275T>A (p.His425Gln)
c.1272T>A (p.His424Gln)
c.1335T>A (p.His445Gln)
n.284T>A
c.324T>A (p.His108Gln)
c.1269T>A (p.His423Gln)
c.1221T>A (p.His407Gln)
n.652T>A
c.261T>A (p.His87Gln)
c.132T>A (p.His44Gln)
7g.44145263T>ACA367397243GCKc.*1269A>T (n.*1269A>T)
c.*391A>T (n.*391A>T)
n.497A>T
c.305A>T (p.His102Leu)
c.1274A>T (p.His425Leu)
c.1271A>T (p.His424Leu)
c.1334A>T (p.His445Leu)
n.283A>T
c.323A>T (p.His108Leu)
c.1268A>T (p.His423Leu)
c.1220A>T (p.His407Leu)
n.651A>T
c.260A>T (p.His87Leu)
c.131A>T (p.His44Leu)
7g.44145263T>CCA367397241GCKc.*1269A>G (n.*1269A>G)
c.*391A>G (n.*391A>G)
n.497A>G
c.305A>G (p.His102Arg)
c.1274A>G (p.His425Arg)
c.1271A>G (p.His424Arg)
c.1334A>G (p.His445Arg)
n.283A>G
c.323A>G (p.His108Arg)
c.1268A>G (p.His423Arg)
c.1220A>G (p.His407Arg)
n.651A>G
c.260A>G (p.His87Arg)
c.131A>G (p.His44Arg)
7g.44145263T>GCA367397239GCKc.*1269A>C (n.*1269A>C)
c.*391A>C (n.*391A>C)
n.497A>C
c.305A>C (p.His102Pro)
c.1274A>C (p.His425Pro)
c.1271A>C (p.His424Pro)
c.1334A>C (p.His445Pro)
n.283A>C
c.323A>C (p.His108Pro)
c.1268A>C (p.His423Pro)
c.1220A>C (p.His407Pro)
n.651A>C
c.260A>C (p.His87Pro)
c.131A>C (p.His44Pro)
 ClinVar dbSNP
7g.44145264G>ACA367397245GCKc.*1268C>T (n.*1268C>T)
c.*390C>T (n.*390C>T)
n.496C>T
c.304C>T (p.His102Tyr)
c.1273C>T (p.His425Tyr)
c.1270C>T (p.His424Tyr)
c.1333C>T (p.His445Tyr)
n.282C>T
c.322C>T (p.His108Tyr)
c.1267C>T (p.His423Tyr)
c.1219C>T (p.His407Tyr)
n.650C>T
c.259C>T (p.His87Tyr)
c.130C>T (p.His44Tyr)
 ClinVar
7g.44145264G>CCA367397247GCKc.*1268C>G (n.*1268C>G)
c.*390C>G (n.*390C>G)
n.496C>G
c.304C>G (p.His102Asp)
c.1273C>G (p.His425Asp)
c.1270C>G (p.His424Asp)
c.1333C>G (p.His445Asp)
n.282C>G
c.322C>G (p.His108Asp)
c.1267C>G (p.His423Asp)
c.1219C>G (p.His407Asp)
n.650C>G
c.259C>G (p.His87Asp)
c.130C>G (p.His44Asp)
7g.44145264G>TCA367397248GCKc.*1268C>A (n.*1268C>A)
c.*390C>A (n.*390C>A)
n.496C>A
c.304C>A (p.His102Asn)
c.1273C>A (p.His425Asn)
c.1270C>A (p.His424Asn)
c.1333C>A (p.His445Asn)
n.282C>A
c.322C>A (p.His108Asn)
c.1267C>A (p.His423Asn)
c.1219C>A (p.His407Asn)
n.650C>A
c.259C>A (p.His87Asn)
c.130C>A (p.His44Asn)
 gnomAD v4
7g.44145265G>ACA454606705GCKc.*1267C>T (n.*1267C>T)
c.*389C>T (n.*389C>T)
n.495C>T
c.303C>T (p.Phe101=)
c.1272C>T (p.Phe424=)
c.1269C>T (p.Phe423=)
c.1332C>T (p.Phe444=)
n.281C>T
c.321C>T (p.Phe107=)
c.1266C>T (p.Phe422=)
c.1218C>T (p.Phe406=)
n.649C>T
c.258C>T (p.Phe86=)
c.129C>T (p.Phe43=)
 dbSNP gnomAD v3 gnomAD v4
7g.44145265G>CCA367397251GCKc.*1267C>G (n.*1267C>G)
c.*389C>G (n.*389C>G)
n.495C>G
c.303C>G (p.Phe101Leu)
c.1272C>G (p.Phe424Leu)
c.1269C>G (p.Phe423Leu)
c.1332C>G (p.Phe444Leu)
n.281C>G
c.321C>G (p.Phe107Leu)
c.1266C>G (p.Phe422Leu)
c.1218C>G (p.Phe406Leu)
n.649C>G
c.258C>G (p.Phe86Leu)
c.129C>G (p.Phe43Leu)
7g.44145265G=CA1703612707GCKc.*1267C= (n.*1267C=)
c.*389C= (n.*389C=)
n.495C=
c.303C= (p.Phe101=)
c.1272C= (p.Phe424=)
c.1269C= (p.Phe423=)
c.1332C= (p.Phe444=)
n.281C=
c.321C= (p.Phe107=)
c.1266C= (p.Phe422=)
c.1218C= (p.Phe406=)
n.649C=
c.258C= (p.Phe86=)
c.129C= (p.Phe43=)
7g.44145265G>TCA367397252GCKc.*1267C>A (n.*1267C>A)
c.*389C>A (n.*389C>A)
n.495C>A
c.303C>A (p.Phe101Leu)
c.1272C>A (p.Phe424Leu)
c.1269C>A (p.Phe423Leu)
c.1332C>A (p.Phe444Leu)
n.281C>A
c.321C>A (p.Phe107Leu)
c.1266C>A (p.Phe422Leu)
c.1218C>A (p.Phe406Leu)
n.649C>A
c.258C>A (p.Phe86Leu)
c.129C>A (p.Phe43Leu)
7g.44145266A=CA1703612708GCKc.*1266T= (n.*1266T=)
c.*388T= (n.*388T=)
n.494T=
c.302T= (p.Phe101=)
c.1271T= (p.Phe424=)
c.1268T= (p.Phe423=)
c.1331T= (p.Phe444=)
n.280T=
c.320T= (p.Phe107=)
c.1265T= (p.Phe422=)
c.1217T= (p.Phe406=)
n.648T=
c.257T= (p.Phe86=)
c.128T= (p.Phe43=)
7g.44145266A>CCA367397254GCKc.*1266T>G (n.*1266T>G)
c.*388T>G (n.*388T>G)
n.494T>G
c.302T>G (p.Phe101Cys)
c.1271T>G (p.Phe424Cys)
c.1268T>G (p.Phe423Cys)
c.1331T>G (p.Phe444Cys)
n.280T>G
c.320T>G (p.Phe107Cys)
c.1265T>G (p.Phe422Cys)
c.1217T>G (p.Phe406Cys)
n.648T>G
c.257T>G (p.Phe86Cys)
c.128T>G (p.Phe43Cys)
7g.44145266A>GCA367397256GCKc.*1266T>C (n.*1266T>C)
c.*388T>C (n.*388T>C)
n.494T>C
c.302T>C (p.Phe101Ser)
c.1271T>C (p.Phe424Ser)
c.1268T>C (p.Phe423Ser)
c.1331T>C (p.Phe444Ser)
n.280T>C
c.320T>C (p.Phe107Ser)
c.1265T>C (p.Phe422Ser)
c.1217T>C (p.Phe406Ser)
n.648T>C
c.257T>C (p.Phe86Ser)
c.128T>C (p.Phe43Ser)
 ClinVar dbSNP
7g.44145266A>TCA213740GCKc.*1266T>A (n.*1266T>A)
c.*388T>A (n.*388T>A)
n.494T>A
c.302T>A (p.Phe101Tyr)
c.1271T>A (p.Phe424Tyr)
c.1268T>A (p.Phe423Tyr)
c.1331T>A (p.Phe444Tyr)
n.280T>A
c.320T>A (p.Phe107Tyr)
c.1265T>A (p.Phe422Tyr)
c.1217T>A (p.Phe406Tyr)
n.648T>A
c.257T>A (p.Phe86Tyr)
c.128T>A (p.Phe43Tyr)
 ClinVar dbSNP
7g.44145267A>CCA367397259GCKc.*1265T>G (n.*1265T>G)
c.*387T>G (n.*387T>G)
n.493T>G
c.301T>G (p.Phe101Val)
c.1270T>G (p.Phe424Val)
c.1267T>G (p.Phe423Val)
c.1330T>G (p.Phe444Val)
n.279T>G
c.319T>G (p.Phe107Val)
c.1264T>G (p.Phe422Val)
c.1216T>G (p.Phe406Val)
n.647T>G
c.256T>G (p.Phe86Val)
c.127T>G (p.Phe43Val)
7g.44145267A>GCA367397261GCKc.*1265T>C (n.*1265T>C)
c.*387T>C (n.*387T>C)
n.493T>C
c.301T>C (p.Phe101Leu)
c.1270T>C (p.Phe424Leu)
c.1267T>C (p.Phe423Leu)
c.1330T>C (p.Phe444Leu)
n.279T>C
c.319T>C (p.Phe107Leu)
c.1264T>C (p.Phe422Leu)
c.1216T>C (p.Phe406Leu)
n.647T>C
c.256T>C (p.Phe86Leu)
c.127T>C (p.Phe43Leu)
7g.44145267A>TCA367397263GCKc.*1265T>A (n.*1265T>A)
c.*387T>A (n.*387T>A)
n.493T>A
c.301T>A (p.Phe101Ile)
c.1270T>A (p.Phe424Ile)
c.1267T>A (p.Phe423Ile)
c.1330T>A (p.Phe444Ile)
n.279T>A
c.319T>A (p.Phe107Ile)
c.1264T>A (p.Phe422Ile)
c.1216T>A (p.Phe406Ile)
n.647T>A
c.256T>A (p.Phe86Ile)
c.127T>A (p.Phe43Ile)
7g.44145268C>ACA454606706GCKc.*1264G>T (n.*1264G>T)
c.*386G>T (n.*386G>T)
n.492G>T
c.300G>T (p.Arg100=)
c.1269G>T (p.Arg423=)
c.1266G>T (p.Arg422=)
c.1329G>T (p.Arg443=)
n.278G>T
c.318G>T (p.Arg106=)
c.1263G>T (p.Arg421=)
c.1215G>T (p.Arg405=)
n.646G>T
c.255G>T (p.Arg85=)
c.126G>T (p.Arg42=)
7g.44145268C>GCA454606707GCKc.*1264G>C (n.*1264G>C)
c.*386G>C (n.*386G>C)
n.492G>C
c.300G>C (p.Arg100=)
c.1269G>C (p.Arg423=)
c.1266G>C (p.Arg422=)
c.1329G>C (p.Arg443=)
n.278G>C
c.318G>C (p.Arg106=)
c.1263G>C (p.Arg421=)
c.1215G>C (p.Arg405=)
n.646G>C
c.255G>C (p.Arg85=)
c.126G>C (p.Arg42=)
7g.44145268C>TCA454606708GCKc.*1264G>A (n.*1264G>A)
c.*386G>A (n.*386G>A)
n.492G>A
c.300G>A (p.Arg100=)
c.1269G>A (p.Arg423=)
c.1266G>A (p.Arg422=)
c.1329G>A (p.Arg443=)
n.278G>A
c.318G>A (p.Arg106=)
c.1263G>A (p.Arg421=)
c.1215G>A (p.Arg405=)
n.646G>A
c.255G>A (p.Arg85=)
c.126G>A (p.Arg42=)
7g.44145269C>ACA157911892GCKc.*1263G>T (n.*1263G>T)
c.*385G>T (n.*385G>T)
n.491G>T
c.299G>T (p.Arg100Leu)
c.1268G>T (p.Arg423Leu)
c.1265G>T (p.Arg422Leu)
c.1328G>T (p.Arg443Leu)
n.277G>T
c.317G>T (p.Arg106Leu)
c.1262G>T (p.Arg421Leu)
c.1214G>T (p.Arg405Leu)
n.645G>T
c.254G>T (p.Arg85Leu)
c.125G>T (p.Arg42Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44145269C=CA1703612709GCKc.*1263G= (n.*1263G=)
c.*385G= (n.*385G=)
n.491G=
c.299G= (p.Arg100=)
c.1268G= (p.Arg423=)
c.1265G= (p.Arg422=)
c.1328G= (p.Arg443=)
n.277G=
c.317G= (p.Arg106=)
c.1262G= (p.Arg421=)
c.1214G= (p.Arg405=)
n.645G=
c.254G= (p.Arg85=)
c.125G= (p.Arg42=)
7g.44145269C>GCA367397268GCKc.*1263G>C (n.*1263G>C)
c.*385G>C (n.*385G>C)
n.491G>C
c.299G>C (p.Arg100Pro)
c.1268G>C (p.Arg423Pro)
c.1265G>C (p.Arg422Pro)
c.1328G>C (p.Arg443Pro)
n.277G>C
c.317G>C (p.Arg106Pro)
c.1262G>C (p.Arg421Pro)
c.1214G>C (p.Arg405Pro)
n.645G>C
c.254G>C (p.Arg85Pro)
c.125G>C (p.Arg42Pro)
 ClinVar dbSNP
7g.44145269C>TCA367397265GCKc.*1263G>A (n.*1263G>A)
c.*385G>A (n.*385G>A)
n.491G>A
c.299G>A (p.Arg100Gln)
c.1268G>A (p.Arg423Gln)
c.1265G>A (p.Arg422Gln)
c.1328G>A (p.Arg443Gln)
n.277G>A
c.317G>A (p.Arg106Gln)
c.1262G>A (p.Arg421Gln)
c.1214G>A (p.Arg405Gln)
n.645G>A
c.254G>A (p.Arg85Gln)
c.125G>A (p.Arg42Gln)
 gnomAD v3 gnomAD v4
7g.44145269_44145279delinsCGCTCCTTGAACA1703612710GCKc.*1253_*1263delinsTTCAAGGAGCG (n.*1253_*1263delinsTTCAAGGAGCG)
c.*375_*385delinsTTCAAGGAGCG (n.*375_*385delinsTTCAAGGAGCG)
n.481_491delinsTTCAAGGAGCG
c.289_299delinsTTCAAGGAGCG (p.Phe97=)
c.1258_1268delinsTTCAAGGAGCG (p.Phe420=)
c.1255_1265delinsTTCAAGGAGCG (p.Phe419=)
c.1318_1328delinsTTCAAGGAGCG (p.Phe440=)
n.267_277delinsTTCAAGGAGCG
c.307_317delinsTTCAAGGAGCG (p.Phe103=)
c.1252_1262delinsTTCAAGGAGCG (p.Phe418=)
c.1204_1214delinsTTCAAGGAGCG (p.Phe402=)
n.635_645delinsTTCAAGGAGCG
c.244_254delinsTTCAAGGAGCG (p.Phe82=)
c.115_125delinsTTCAAGGAGCG (p.Phe39=)
7g.44145270G>ACA367397271GCKc.*1262C>T (n.*1262C>T)
c.*384C>T (n.*384C>T)
n.490C>T
c.298C>T (p.Arg100Trp)
c.1267C>T (p.Arg423Trp)
c.1264C>T (p.Arg422Trp)
c.1327C>T (p.Arg443Trp)
n.276C>T
c.316C>T (p.Arg106Trp)
c.1261C>T (p.Arg421Trp)
c.1213C>T (p.Arg405Trp)
n.644C>T
c.253C>T (p.Arg85Trp)
c.124C>T (p.Arg42Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145270G>CCA367397273GCKc.*1262C>G (n.*1262C>G)
c.*384C>G (n.*384C>G)
n.490C>G
c.298C>G (p.Arg100Gly)
c.1267C>G (p.Arg423Gly)
c.1264C>G (p.Arg422Gly)
c.1327C>G (p.Arg443Gly)
n.276C>G
c.316C>G (p.Arg106Gly)
c.1261C>G (p.Arg421Gly)
c.1213C>G (p.Arg405Gly)
n.644C>G
c.253C>G (p.Arg85Gly)
c.124C>G (p.Arg42Gly)
 ClinVar
7g.44145270G=CA1703612711GCKc.*1262C= (n.*1262C=)
c.*384C= (n.*384C=)
n.490C=
c.298C= (p.Arg100=)
c.1267C= (p.Arg423=)
c.1264C= (p.Arg422=)
c.1327C= (p.Arg443=)
n.276C=
c.316C= (p.Arg106=)
c.1261C= (p.Arg421=)
c.1213C= (p.Arg405=)
n.644C=
c.253C= (p.Arg85=)
c.124C= (p.Arg42=)
7g.44145270G>TCA454606709GCKc.*1262C>A (n.*1262C>A)
c.*384C>A (n.*384C>A)
n.490C>A
c.298C>A (p.Arg100=)
c.1267C>A (p.Arg423=)
c.1264C>A (p.Arg422=)
c.1327C>A (p.Arg443=)
n.276C>A
c.316C>A (p.Arg106=)
c.1261C>A (p.Arg421=)
c.1213C>A (p.Arg405=)
n.644C>A
c.253C>A (p.Arg85=)
c.124C>A (p.Arg42=)
 gnomAD v4
7g.44145273_44145282delCA915948961GCKc.*1253_*1262del
c.*375_*384del
n.481_490del
c.289_298del
c.1258_1267del
c.1255_1264del
c.1318_1327del
n.267_276del
c.307_316del
c.1252_1261del
c.1204_1213del
n.635_644del
c.244_253del
c.115_124del
 ClinVar dbSNP
7g.44145271C>ACA367397275GCKc.*1261G>T (n.*1261G>T)
c.*383G>T (n.*383G>T)
n.489G>T
c.297G>T (p.Glu99Asp)
c.1266G>T (p.Glu422Asp)
c.1263G>T (p.Glu421Asp)
c.1326G>T (p.Glu442Asp)
n.275G>T
c.315G>T (p.Glu105Asp)
c.1260G>T (p.Glu420Asp)
c.1212G>T (p.Glu404Asp)
n.643G>T
c.252G>T (p.Glu84Asp)
c.123G>T (p.Glu41Asp)
7g.44145271C=CA1703612712GCKc.*1261G= (n.*1261G=)
c.*383G= (n.*383G=)
n.489G=
c.297G= (p.Glu99=)
c.1266G= (p.Glu422=)
c.1263G= (p.Glu421=)
c.1326G= (p.Glu442=)
n.275G=
c.315G= (p.Glu105=)
c.1260G= (p.Glu420=)
c.1212G= (p.Glu404=)
n.643G=
c.252G= (p.Glu84=)
c.123G= (p.Glu41=)
7g.44145271C>GCA367397277GCKc.*1261G>C (n.*1261G>C)
c.*383G>C (n.*383G>C)
n.489G>C
c.297G>C (p.Glu99Asp)
c.1266G>C (p.Glu422Asp)
c.1263G>C (p.Glu421Asp)
c.1326G>C (p.Glu442Asp)
n.275G>C
c.315G>C (p.Glu105Asp)
c.1260G>C (p.Glu420Asp)
c.1212G>C (p.Glu404Asp)
n.643G>C
c.252G>C (p.Glu84Asp)
c.123G>C (p.Glu41Asp)
 gnomAD v4
7g.44145271C>TCA454606710GCKc.*1261G>A (n.*1261G>A)
c.*383G>A (n.*383G>A)
n.489G>A
c.297G>A (p.Glu99=)
c.1266G>A (p.Glu422=)
c.1263G>A (p.Glu421=)
c.1326G>A (p.Glu442=)
n.275G>A
c.315G>A (p.Glu105=)
c.1260G>A (p.Glu420=)
c.1212G>A (p.Glu404=)
n.643G>A
c.252G>A (p.Glu84=)
c.123G>A (p.Glu41=)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched