Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.1761364G>ACA288797CTSDc.173C>T (p.Ala58Val)
c.68C>T (p.Ala23Val)
n.2601C>T
c.*34C>T (n.*34C>T)
c.128C>T (p.Ala43Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761364G>CCA379099572CTSDc.173C>G (p.Ala58Gly)
c.68C>G (p.Ala23Gly)
n.2601C>G
c.*34C>G (n.*34C>G)
c.128C>G (p.Ala43Gly)
11g.1761364G=CA1947836679CTSDc.173C= (p.Ala58=)
c.68C= (p.Ala23=)
n.2601C=
c.*34C= (n.*34C=)
c.128C= (p.Ala43=)
11g.1761364G>TCA379099575CTSDc.173C>A (p.Ala58Glu)
c.68C>A (p.Ala23Glu)
n.2601C>A
c.*34C>A (n.*34C>A)
c.128C>A (p.Ala43Glu)
 ClinVar
11g.1761365C>ACA379099576CTSDc.172G>T (p.Ala58Ser)
c.67G>T (p.Ala23Ser)
n.2600G>T
c.*33G>T (n.*33G>T)
c.127G>T (p.Ala43Ser)
11g.1761365C>GCA379099577CTSDc.172G>C (p.Ala58Pro)
c.67G>C (p.Ala23Pro)
n.2600G>C
c.*33G>C (n.*33G>C)
c.127G>C (p.Ala43Pro)
11g.1761365C>TCA379099578CTSDc.172G>A (p.Ala58Thr)
c.67G>A (p.Ala23Thr)
n.2600G>A
c.*33G>A (n.*33G>A)
c.127G>A (p.Ala43Thr)
11g.1761366C>ACA379099580CTSDc.171G>T (p.Gln57His)
c.66G>T (p.Gln22His)
n.2599G>T
c.*32G>T (n.*32G>T)
c.126G>T (p.Gln42His)
11g.1761366C>GCA379099582CTSDc.171G>C (p.Gln57His)
c.66G>C (p.Gln22His)
n.2599G>C
c.*32G>C (n.*32G>C)
c.126G>C (p.Gln42His)
11g.1761366C>TCA471994918CTSDc.171G>A (p.Gln57=)
c.66G>A (p.Gln22=)
n.2599G>A
c.*32G>A (n.*32G>A)
c.126G>A (p.Gln42=)
11g.1761367T>ACA379099585CTSDc.170A>T (p.Gln57Leu)
c.65A>T (p.Gln22Leu)
n.2598A>T
c.*31A>T (n.*31A>T)
c.125A>T (p.Gln42Leu)
11g.1761367T>CCA379099589CTSDc.170A>G (p.Gln57Arg)
c.65A>G (p.Gln22Arg)
n.2598A>G
c.*31A>G (n.*31A>G)
c.125A>G (p.Gln42Arg)
11g.1761367T>GCA379099591CTSDc.170A>C (p.Gln57Pro)
c.65A>C (p.Gln22Pro)
n.2598A>C
c.*31A>C (n.*31A>C)
c.125A>C (p.Gln42Pro)
 gnomAD v4
11g.1761368G>ACA379099592CTSDc.169C>T (p.Gln57Ter)
c.64C>T (p.Gln22Ter)
n.2597C>T
c.*30C>T (n.*30C>T)
c.124C>T (p.Gln42Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.1761368G>CCA379099595CTSDc.169C>G (p.Gln57Glu)
c.64C>G (p.Gln22Glu)
n.2597C>G
c.*30C>G (n.*30C>G)
c.124C>G (p.Gln42Glu)
11g.1761368G=CA1947836684CTSDc.169C= (p.Gln57=)
c.64C= (p.Gln22=)
n.2597C=
c.*30C= (n.*30C=)
c.124C= (p.Gln42=)
11g.1761368G>TCA379099593CTSDc.169C>A (p.Gln57Lys)
c.64C>A (p.Gln22Lys)
n.2597C>A
c.*30C>A (n.*30C>A)
c.124C>A (p.Gln42Lys)
 gnomAD v4
11g.1761369G>ACA471994920CTSDc.168C>T (p.Ser56=)
c.63C>T (p.Ser21=)
n.2596C>T
c.*29C>T (n.*29C>T)
c.123C>T (p.Ser41=)
11g.1761369G>CCA471994921CTSDc.168C>G (p.Ser56=)
c.63C>G (p.Ser21=)
n.2596C>G
c.*29C>G (n.*29C>G)
c.123C>G (p.Ser41=)
 ClinVar
11g.1761369G>TCA471994922CTSDc.168C>A (p.Ser56=)
c.63C>A (p.Ser21=)
n.2596C>A
c.*29C>A (n.*29C>A)
c.123C>A (p.Ser41=)
11g.1761370G>ACA379099597CTSDc.167C>T (p.Ser56Phe)
c.62C>T (p.Ser21Phe)
n.2595C>T
c.*28C>T (n.*28C>T)
c.122C>T (p.Ser41Phe)
 dbSNP gnomAD v2
11g.1761370G>CCA379099602CTSDc.167C>G (p.Ser56Cys)
c.62C>G (p.Ser21Cys)
n.2595C>G
c.*28C>G (n.*28C>G)
c.122C>G (p.Ser41Cys)
11g.1761370G=CA1947836689CTSDc.167C= (p.Ser56=)
c.62C= (p.Ser21=)
n.2595C=
c.*28C= (n.*28C=)
c.122C= (p.Ser41=)
11g.1761370G>TCA379099600CTSDc.167C>A (p.Ser56Tyr)
c.62C>A (p.Ser21Tyr)
n.2595C>A
c.*28C>A (n.*28C>A)
c.122C>A (p.Ser41Tyr)
11g.1761371delCA2574770627CTSDc.166del (p.Ser56ProfsTer7)
c.61del (p.Ser21ProfsTer7)
n.2594del
c.*27del (n.*27del)
c.121del (p.Ser41ProfsTer7)
11g.1761371A>CCA379099605CTSDc.166T>G (p.Ser56Ala)
c.61T>G (p.Ser21Ala)
n.2594T>G
c.*27T>G (n.*27T>G)
c.121T>G (p.Ser41Ala)
11g.1761371A>GCA379099606CTSDc.166T>C (p.Ser56Pro)
c.61T>C (p.Ser21Pro)
n.2594T>C
c.*27T>C (n.*27T>C)
c.121T>C (p.Ser41Pro)
 ClinVar gnomAD v4
11g.1761371A>TCA379099608CTSDc.166T>A (p.Ser56Thr)
c.61T>A (p.Ser21Thr)
n.2594T>A
c.*27T>A (n.*27T>A)
c.121T>A (p.Ser41Thr)
11g.1761372G>ACA471994923CTSDc.165C>T (p.Tyr55=)
c.60C>T (p.Tyr20=)
n.2593C>T
c.*26C>T (n.*26C>T)
c.120C>T (p.Tyr40=)
 ClinVar
11g.1761372G>CCA379099612CTSDc.165C>G (p.Tyr55Ter)
c.60C>G (p.Tyr20Ter)
n.2593C>G
c.*26C>G (n.*26C>G)
c.120C>G (p.Tyr40Ter)
11g.1761372G>TCA379099615CTSDc.165C>A (p.Tyr55Ter)
c.60C>A (p.Tyr20Ter)
n.2593C>A
c.*26C>A (n.*26C>A)
c.120C>A (p.Tyr40Ter)
11g.1761373T>ACA379099618CTSDc.164A>T (p.Tyr55Phe)
c.59A>T (p.Tyr20Phe)
n.2592A>T
c.*25A>T (n.*25A>T)
c.119A>T (p.Tyr40Phe)
11g.1761373T>CCA379099620CTSDc.164A>G (p.Tyr55Cys)
c.59A>G (p.Tyr20Cys)
n.2592A>G
c.*25A>G (n.*25A>G)
c.119A>G (p.Tyr40Cys)
11g.1761373T>GCA379099622CTSDc.164A>C (p.Tyr55Ser)
c.59A>C (p.Tyr20Ser)
n.2592A>C
c.*25A>C (n.*25A>C)
c.119A>C (p.Tyr40Ser)
11g.1761374A>CCA379099626CTSDc.163T>G (p.Tyr55Asp)
c.58T>G (p.Tyr20Asp)
n.2591T>G
c.*24T>G (n.*24T>G)
c.118T>G (p.Tyr40Asp)
11g.1761374A>GCA379099629CTSDc.163T>C (p.Tyr55His)
c.58T>C (p.Tyr20His)
n.2591T>C
c.*24T>C (n.*24T>C)
c.118T>C (p.Tyr40His)
11g.1761374A>TCA379099631CTSDc.163T>A (p.Tyr55Asn)
c.58T>A (p.Tyr20Asn)
n.2591T>A
c.*24T>A (n.*24T>A)
c.118T>A (p.Tyr40Asn)
11g.1761375C>ACA379099640CTSDc.162G>T (p.Lys54Asn)
c.57G>T (p.Lys19Asn)
n.2590G>T
c.*23G>T (n.*23G>T)
c.117G>T (p.Lys39Asn)
11g.1761375C=CA1947836692CTSDc.162G= (p.Lys54=)
c.57G= (p.Lys19=)
n.2590G=
c.*23G= (n.*23G=)
c.117G= (p.Lys39=)
11g.1761375C>GCA379099637CTSDc.162G>C (p.Lys54Asn)
c.57G>C (p.Lys19Asn)
n.2590G>C
c.*23G>C (n.*23G>C)
c.117G>C (p.Lys39Asn)
11g.1761375C>TCA5814279CTSDc.162G>A (p.Lys54=)
c.57G>A (p.Lys19=)
n.2590G>A
c.*23G>A (n.*23G>A)
c.117G>A (p.Lys39=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761376T>ACA379099641CTSDc.161A>T (p.Lys54Met)
c.56A>T (p.Lys19Met)
n.2589A>T
c.*22A>T (n.*22A>T)
c.116A>T (p.Lys39Met)
11g.1761376T>CCA379099645CTSDc.161A>G (p.Lys54Arg)
c.56A>G (p.Lys19Arg)
n.2589A>G
c.*22A>G (n.*22A>G)
c.116A>G (p.Lys39Arg)
 ClinVar dbSNP gnomAD v4
11g.1761376T>GCA379099648CTSDc.161A>C (p.Lys54Thr)
c.56A>C (p.Lys19Thr)
n.2589A>C
c.*22A>C (n.*22A>C)
c.116A>C (p.Lys39Thr)
11g.1761376T=CA1947836694CTSDc.161A= (p.Lys54=)
c.56A= (p.Lys19=)
n.2589A=
c.*22A= (n.*22A=)
c.116A= (p.Lys39=)
11g.1761377T>ACA379099652CTSDc.160A>T (p.Lys54Ter)
c.55A>T (p.Lys19Ter)
n.2588A>T
c.*21A>T (n.*21A>T)
c.115A>T (p.Lys39Ter)
11g.1761377T>CCA379099655CTSDc.160A>G (p.Lys54Glu)
c.55A>G (p.Lys19Glu)
n.2588A>G
c.*21A>G (n.*21A>G)
c.115A>G (p.Lys39Glu)
11g.1761377T>GCA379099656CTSDc.160A>C (p.Lys54Gln)
c.55A>C (p.Lys19Gln)
n.2588A>C
c.*21A>C (n.*21A>C)
c.115A>C (p.Lys39Gln)
11g.1761378T>ACA471994924CTSDc.159A>T (p.Ser53=)
c.54A>T (p.Ser18=)
n.2587A>T
c.*20A>T (n.*20A>T)
c.114A>T (p.Ser38=)
11g.1761378T>CCA471994925CTSDc.159A>G (p.Ser53=)
c.54A>G (p.Ser18=)
n.2587A>G
c.*20A>G (n.*20A>G)
c.114A>G (p.Ser38=)
11g.1761378T>GCA471994926CTSDc.159A>C (p.Ser53=)
c.54A>C (p.Ser18=)
n.2587A>C
c.*20A>C (n.*20A>C)
c.114A>C (p.Ser38=)
11g.1761379G>ACA379099657CTSDc.158C>T (p.Ser53Leu)
c.53C>T (p.Ser18Leu)
n.2586C>T
c.*19C>T (n.*19C>T)
c.113C>T (p.Ser38Leu)
11g.1761379G>CCA379099658CTSDc.158C>G (p.Ser53Ter)
c.53C>G (p.Ser18Ter)
n.2586C>G
c.*19C>G (n.*19C>G)
c.113C>G (p.Ser38Ter)
11g.1761379G>TCA379099659CTSDc.158C>A (p.Ser53Ter)
c.53C>A (p.Ser18Ter)
n.2586C>A
c.*19C>A (n.*19C>A)
c.113C>A (p.Ser38Ter)
11g.1761380A>CCA379099662CTSDc.157T>G (p.Ser53Ala)
c.52T>G (p.Ser18Ala)
n.2585T>G
c.*18T>G (n.*18T>G)
c.112T>G (p.Ser38Ala)
11g.1761380A>GCA379099663CTSDc.157T>C (p.Ser53Pro)
c.52T>C (p.Ser18Pro)
n.2585T>C
c.*18T>C (n.*18T>C)
c.112T>C (p.Ser38Pro)
11g.1761380A>TCA379099666CTSDc.157T>A (p.Ser53Thr)
c.52T>A (p.Ser18Thr)
n.2585T>A
c.*18T>A (n.*18T>A)
c.112T>A (p.Ser38Thr)
11g.1761381G>ACA471994928CTSDc.156C>T (p.Val52=)
c.51C>T (p.Val17=)
n.2584C>T
c.*17C>T (n.*17C>T)
c.111C>T (p.Val37=)
 gnomAD v4
11g.1761381G>CCA471994929CTSDc.156C>G (p.Val52=)
c.51C>G (p.Val17=)
n.2584C>G
c.*17C>G (n.*17C>G)
c.111C>G (p.Val37=)
11g.1761381G>TCA471994927CTSDc.156C>A (p.Val52=)
c.51C>A (p.Val17=)
n.2584C>A
c.*17C>A (n.*17C>A)
c.111C>A (p.Val37=)
11g.1761382A>CCA379099686CTSDc.155T>G (p.Val52Gly)
c.50T>G (p.Val17Gly)
n.2583T>G
c.*16T>G (n.*16T>G)
c.110T>G (p.Val37Gly)
11g.1761382A>GCA379099678CTSDc.155T>C (p.Val52Ala)
c.50T>C (p.Val17Ala)
n.2583T>C
c.*16T>C (n.*16T>C)
c.110T>C (p.Val37Ala)
11g.1761382A>TCA379099676CTSDc.155T>A (p.Val52Asp)
c.50T>A (p.Val17Asp)
n.2583T>A
c.*16T>A (n.*16T>A)
c.110T>A (p.Val37Asp)
11g.1761383C>ACA379099689CTSDc.154G>T (p.Val52Phe)
c.49G>T (p.Val17Phe)
n.2582G>T
c.*15G>T (n.*15G>T)
c.109G>T (p.Val37Phe)
 COSMIC
11g.1761383C=CA1947836700CTSDc.154G= (p.Val52=)
c.49G= (p.Val17=)
n.2582G=
c.*15G= (n.*15G=)
c.109G= (p.Val37=)
11g.1761383C>GCA379099691CTSDc.154G>C (p.Val52Leu)
c.49G>C (p.Val17Leu)
n.2582G>C
c.*15G>C (n.*15G>C)
c.109G>C (p.Val37Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.1761383C>TCA314312CTSDc.154G>A (p.Val52Ile)
c.49G>A (p.Val17Ile)
n.2582G>A
c.*15G>A (n.*15G>A)
c.109G>A (p.Val37Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.1761383_1761384delinsCGCA1947836699CTSDc.153_154delinsCG (p.Pro51=)
c.48_49delinsCG (p.Pro16=)
n.2581_2582delinsCG
c.*14_*15delinsCG (n.*14_*15delinsCG)
c.108_109delinsCG (p.Pro36=)
11g.1761384G>ACA290535CTSDc.153C>T (p.Pro51=)
c.48C>T (p.Pro16=)
n.2581C>T
c.*14C>T (n.*14C>T)
c.108C>T (p.Pro36=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761384G>CCA471994931CTSDc.153C>G (p.Pro51=)
c.48C>G (p.Pro16=)
n.2581C>G
c.*14C>G (n.*14C>G)
c.108C>G (p.Pro36=)
 gnomAD v4
11g.1761384G=CA1947836708CTSDc.153C= (p.Pro51=)
c.48C= (p.Pro16=)
n.2581C=
c.*14C= (n.*14C=)
c.108C= (p.Pro36=)
11g.1761384G>TCA471994930CTSDc.153C>A (p.Pro51=)
c.48C>A (p.Pro16=)
n.2581C>A
c.*14C>A (n.*14C>A)
c.108C>A (p.Pro36=)
11g.1761387dupCA216180897CTSDc.153dup (p.Val52ArgfsTer?)
c.48dup (p.Val17ArgfsTer?)
n.2581dup
c.*14dup (n.*14dup)
c.108dup (p.Val37ArgfsTer?)
 dbSNP gnomAD v4
11g.1761387delCA597430643CTSDc.153del (p.Val52SerfsTer11)
c.48del (p.Val17SerfsTer11)
n.2581del
c.*14del (n.*14del)
c.108del (p.Val37SerfsTer11)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.1761385G>ACA379099701CTSDc.152C>T (p.Pro51Leu)
c.47C>T (p.Pro16Leu)
n.2580C>T
c.*13C>T (n.*13C>T)
c.107C>T (p.Pro36Leu)
11g.1761385G>CCA379099703CTSDc.152C>G (p.Pro51Arg)
c.47C>G (p.Pro16Arg)
n.2580C>G
c.*13C>G (n.*13C>G)
c.107C>G (p.Pro36Arg)
 ClinVar dbSNP gnomAD v4
11g.1761385G>TCA379099705CTSDc.152C>A (p.Pro51His)
c.47C>A (p.Pro16His)
n.2580C>A
c.*13C>A (n.*13C>A)
c.107C>A (p.Pro36His)
11g.1761386G>ACA379099708CTSDc.151C>T (p.Pro51Ser)
c.46C>T (p.Pro16Ser)
n.2579C>T
c.*12C>T (n.*12C>T)
c.106C>T (p.Pro36Ser)
 gnomAD v4
11g.1761386G>CCA379099712CTSDc.151C>G (p.Pro51Ala)
c.46C>G (p.Pro16Ala)
n.2579C>G
c.*12C>G (n.*12C>G)
c.106C>G (p.Pro36Ala)
 dbSNP COSMIC
11g.1761386G=CA1947836713CTSDc.151C= (p.Pro51=)
c.46C= (p.Pro16=)
n.2579C=
c.*12C= (n.*12C=)
c.106C= (p.Pro36=)
11g.1761386G>TCA379099710CTSDc.151C>A (p.Pro51Thr)
c.46C>A (p.Pro16Thr)
n.2579C>A
c.*12C>A (n.*12C>A)
c.106C>A (p.Pro36Thr)
11g.1761387G>ACA5814280CTSDc.150C>T (p.Gly50=)
c.45C>T (p.Gly15=)
n.2578C>T
c.*11C>T (n.*11C>T)
c.105C>T (p.Gly35=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761387G>CCA471994932CTSDc.150C>G (p.Gly50=)
c.45C>G (p.Gly15=)
n.2578C>G
c.*11C>G (n.*11C>G)
c.105C>G (p.Gly35=)
 gnomAD v4
11g.1761387G=CA1947836717CTSDc.150C= (p.Gly50=)
c.45C= (p.Gly15=)
n.2578C=
c.*11C= (n.*11C=)
c.105C= (p.Gly35=)
11g.1761387G>TCA471994933CTSDc.150C>A (p.Gly50=)
c.45C>A (p.Gly15=)
n.2578C>A
c.*11C>A (n.*11C>A)
c.105C>A (p.Gly35=)
11g.1761388C>ACA379099716CTSDc.149G>T (p.Gly50Val)
c.44G>T (p.Gly15Val)
n.2577G>T
c.*10G>T (n.*10G>T)
c.104G>T (p.Gly35Val)
11g.1761388C>GCA379099718CTSDc.149G>C (p.Gly50Ala)
c.44G>C (p.Gly15Ala)
n.2577G>C
c.*10G>C (n.*10G>C)
c.104G>C (p.Gly35Ala)
11g.1761388C>TCA379099719CTSDc.149G>A (p.Gly50Asp)
c.44G>A (p.Gly15Asp)
n.2577G>A
c.*10G>A (n.*10G>A)
c.104G>A (p.Gly35Asp)
 gnomAD v4 COSMIC
11g.1761389C>ACA379099722CTSDc.148G>T (p.Gly50Cys)
c.43G>T (p.Gly15Cys)
n.2576G>T
c.*9G>T (n.*9G>T)
c.103G>T (p.Gly35Cys)
11g.1761389C>GCA379099731CTSDc.148G>C (p.Gly50Arg)
c.43G>C (p.Gly15Arg)
n.2576G>C
c.*9G>C (n.*9G>C)
c.103G>C (p.Gly35Arg)
 gnomAD v4
11g.1761389C>TCA379099729CTSDc.148G>A (p.Gly50Ser)
c.43G>A (p.Gly15Ser)
n.2576G>A
c.*9G>A (n.*9G>A)
c.103G>A (p.Gly35Ser)
11g.1761390T>ACA379099734CTSDc.147A>T (p.Lys49Asn)
c.42A>T (p.Lys14Asn)
n.2575A>T
c.*8A>T (n.*8A>T)
c.102A>T (p.Lys34Asn)
11g.1761390T>CCA471994934CTSDc.147A>G (p.Lys49=)
c.42A>G (p.Lys14=)
n.2575A>G
c.*8A>G (n.*8A>G)
c.102A>G (p.Lys34=)
11g.1761390T>GCA379099735CTSDc.147A>C (p.Lys49Asn)
c.42A>C (p.Lys14Asn)
n.2575A>C
c.*8A>C (n.*8A>C)
c.102A>C (p.Lys34Asn)
11g.1761391T>ACA379099737CTSDc.146A>T (p.Lys49Ile)
c.41A>T (p.Lys14Ile)
n.2574A>T
c.*7A>T (n.*7A>T)
c.101A>T (p.Lys34Ile)
11g.1761391T>CCA379099740CTSDc.146A>G (p.Lys49Arg)
c.41A>G (p.Lys14Arg)
n.2574A>G
c.*7A>G (n.*7A>G)
c.101A>G (p.Lys34Arg)
11g.1761391T>GCA379099744CTSDc.146A>C (p.Lys49Thr)
c.41A>C (p.Lys14Thr)
n.2574A>C
c.*7A>C (n.*7A>C)
c.101A>C (p.Lys34Thr)
11g.1761392T>ACA379099745CTSDc.145A>T (p.Lys49Ter)
c.40A>T (p.Lys14Ter)
n.2573A>T
c.*6A>T (n.*6A>T)
c.100A>T (p.Lys34Ter)
11g.1761392T>CCA379099747CTSDc.145A>G (p.Lys49Glu)
c.40A>G (p.Lys14Glu)
n.2573A>G
c.*6A>G (n.*6A>G)
c.100A>G (p.Lys34Glu)
11g.1761392T>GCA379099752CTSDc.145A>C (p.Lys49Gln)
c.40A>C (p.Lys14Gln)
n.2573A>C
c.*6A>C (n.*6A>C)
c.100A>C (p.Lys34Gln)
 gnomAD v4
11g.1761393G>ACA216180908CTSDc.144C>T (p.Ala48=)
c.39C>T (p.Ala13=)
n.2572C>T
c.*5C>T (n.*5C>T)
c.99C>T (p.Ala33=)
 dbSNP
11g.1761393G>CCA471994935CTSDc.144C>G (p.Ala48=)
c.39C>G (p.Ala13=)
n.2572C>G
c.*5C>G (n.*5C>G)
c.99C>G (p.Ala33=)
11g.1761393G=CA1947836721CTSDc.144C= (p.Ala48=)
c.39C= (p.Ala13=)
n.2572C=
c.*5C= (n.*5C=)
c.99C= (p.Ala33=)
11g.1761393G>TCA471994936CTSDc.144C>A (p.Ala48=)
c.39C>A (p.Ala13=)
n.2572C>A
c.*5C>A (n.*5C>A)
c.99C>A (p.Ala33=)
11g.1761394G>ACA379099756CTSDc.143C>T (p.Ala48Val)
c.38C>T (p.Ala13Val)
n.2571C>T
c.*4C>T (n.*4C>T)
c.98C>T (p.Ala33Val)
11g.1761394G>CCA379099759CTSDc.143C>G (p.Ala48Gly)
c.38C>G (p.Ala13Gly)
n.2571C>G
c.*4C>G (n.*4C>G)
c.98C>G (p.Ala33Gly)
11g.1761394G>TCA379099764CTSDc.143C>A (p.Ala48Asp)
c.38C>A (p.Ala13Asp)
n.2571C>A
c.*4C>A (n.*4C>A)
c.98C>A (p.Ala33Asp)
 COSMIC
11g.1761395C>ACA379099766CTSDc.142G>T (p.Ala48Ser)
c.37G>T (p.Ala13Ser)
n.2570G>T
c.*3G>T (n.*3G>T)
c.97G>T (p.Ala33Ser)
11g.1761395C=CA1947836726CTSDc.142G= (p.Ala48=)
c.37G= (p.Ala13=)
n.2570G=
c.*3G= (n.*3G=)
c.97G= (p.Ala33=)
11g.1761395C>GCA379099769CTSDc.142G>C (p.Ala48Pro)
c.37G>C (p.Ala13Pro)
n.2570G>C
c.*3G>C (n.*3G>C)
c.97G>C (p.Ala33Pro)
11g.1761395C>TCA5814281CTSDc.142G>A (p.Ala48Thr)
c.37G>A (p.Ala13Thr)
n.2570G>A
c.*3G>A (n.*3G>A)
c.97G>A (p.Ala33Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761396A=CA1947836731CTSDc.141T= (p.Ile47=)
c.36T= (p.Ile12=)
n.2569T=
c.*2T= (n.*2T=)
c.96T= (p.Ile32=)
11g.1761396A>CCA379099770CTSDc.141T>G (p.Ile47Met)
c.36T>G (p.Ile12Met)
n.2569T>G
c.*2T>G (n.*2T>G)
c.96T>G (p.Ile32Met)
 ClinVar dbSNP
11g.1761396A>GCA471994937CTSDc.141T>C (p.Ile47=)
c.36T>C (p.Ile12=)
n.2569T>C
c.*2T>C (n.*2T>C)
c.96T>C (p.Ile32=)
 ClinVar
11g.1761396A>TCA216180917CTSDc.141T>A (p.Ile47=)
c.36T>A (p.Ile12=)
n.2569T>A
c.*2T>A (n.*2T>A)
c.96T>A (p.Ile32=)
 dbSNP
11g.1761397A=CA1947836734CTSDc.140T= (p.Ile47=)
c.35T= (p.Ile12=)
n.2568T=
c.*1T= (n.*1T=)
c.95T= (p.Ile32=)
11g.1761397A>CCA379099773CTSDc.140T>G (p.Ile47Ser)
c.35T>G (p.Ile12Ser)
n.2568T>G
c.*1T>G (n.*1T>G)
c.95T>G (p.Ile32Ser)
11g.1761397A>GCA216180935CTSDc.140T>C (p.Ile47Thr)
c.35T>C (p.Ile12Thr)
n.2568T>C
c.*1T>C (n.*1T>C)
c.95T>C (p.Ile32Thr)
 dbSNP gnomAD v4
11g.1761397A>TCA379099778CTSDc.140T>A (p.Ile47Asn)
c.35T>A (p.Ile12Asn)
n.2568T>A
c.*1T>A (n.*1T>A)
c.95T>A (p.Ile32Asn)
 dbSNP
11g.1761398T>ACA379099783CTSDc.139A>T (p.Ile47Phe)
c.34A>T (p.Ile12Phe)
n.2567A>T
c.282A>T (p.Ter94Cys)
c.94A>T (p.Ile32Phe)
 gnomAD v4
11g.1761398T>CCA379099785CTSDc.139A>G (p.Ile47Val)
c.34A>G (p.Ile12Val)
n.2567A>G
c.282A>G (p.Ter94Trp)
c.94A>G (p.Ile32Val)
11g.1761398T>GCA379099789CTSDc.139A>C (p.Ile47Leu)
c.34A>C (p.Ile12Leu)
n.2567A>C
c.282A>C (p.Ter94Cys)
c.94A>C (p.Ile32Leu)
11g.1761399C>ACA471994939CTSDc.138G>T (p.Leu46=)
c.33G>T (p.Leu11=)
n.2566G>T
c.281G>T (p.Ter94Leu)
c.93G>T (p.Leu31=)
11g.1761399C=CA1947836739CTSDc.138G= (p.Leu46=)
c.33G= (p.Leu11=)
n.2566G=
c.281G= (p.Ter94=)
c.93G= (p.Leu31=)
11g.1761399C>GCA471994938CTSDc.138G>C (p.Leu46=)
c.33G>C (p.Leu11=)
n.2566G>C
c.281G>C (p.Ter94Ser)
c.93G>C (p.Leu31=)
11g.1761399C>TCA471994940CTSDc.138G>A (p.Leu46=)
c.33G>A (p.Leu11=)
n.2566G>A
c.281G>A (p.Ter94=)
c.93G>A (p.Leu31=)
 dbSNP gnomAD v2 gnomAD v4
11g.1761400A=CA1947836743CTSDc.137T= (p.Leu46=)
c.32T= (p.Leu11=)
n.2565T=
c.280T= (p.Ter94=)
c.92T= (p.Leu31=)
11g.1761400A>CCA379099792CTSDc.137T>G (p.Leu46Arg)
c.32T>G (p.Leu11Arg)
n.2565T>G
c.280T>G (p.Ter94Gly)
c.92T>G (p.Leu31Arg)
 gnomAD v4
11g.1761400A>GCA379099795CTSDc.137T>C (p.Leu46Pro)
c.32T>C (p.Leu11Pro)
n.2565T>C
c.280T>C (p.Ter94Arg)
c.92T>C (p.Leu31Pro)
 dbSNP
11g.1761400A>TCA379099798CTSDc.137T>A (p.Leu46Gln)
c.32T>A (p.Leu11Gln)
n.2565T>A
c.280T>A (p.Ter94Arg)
c.92T>A (p.Leu31Gln)
11g.1761401G>ACA471994941CTSDc.136C>T (p.Leu46=)
c.31C>T (p.Leu11=)
n.2564C>T
c.279C>T (p.Thr93=)
c.91C>T (p.Leu31=)
 dbSNP gnomAD v3 gnomAD v4
11g.1761401G>CCA379099806CTSDc.136C>G (p.Leu46Val)
c.31C>G (p.Leu11Val)
n.2564C>G
c.279C>G (p.Thr93=)
c.91C>G (p.Leu31Val)
11g.1761401G=CA1947836749CTSDc.136C= (p.Leu46=)
c.31C= (p.Leu11=)
n.2564C=
c.279C= (p.Thr93=)
c.91C= (p.Leu31=)
11g.1761401G>TCA379099808CTSDc.136C>A (p.Leu46Met)
c.31C>A (p.Leu11Met)
n.2564C>A
c.279C>A (p.Thr93=)
c.91C>A (p.Leu31Met)
 gnomAD v4
11g.1761403_1761441dupCA5814282CTSDc.98_136dup (p.Asp45_Leu46insArgArgThrMetSerGluValGlyGlySerValGluAsp)
c.-8_31dup (p.Asp10_Leu11insArgArgThrMetSerGluValGlyGlySerValGluAsp)
n.2526_2564dup
c.241_279dup (p.Thr93_Ter94insAlaGlyProCysArgArgLeuGlyAlaLeuTrpArgThr)
c.53_91dup (p.Asp30_Leu31insArgArgThrMetSerGluValGlyGlySerValGluAsp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.1761402G>ACA471994942CTSDc.135C>T (p.Asp45=)
c.30C>T (p.Asp10=)
n.2563C>T
c.278C>T (p.Thr93Ile)
c.90C>T (p.Asp30=)
11g.1761402G>CCA5814283CTSDc.135C>G (p.Asp45Glu)
c.30C>G (p.Asp10Glu)
n.2563C>G
c.278C>G (p.Thr93Ser)
c.90C>G (p.Asp30Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761402G=CA1947836754CTSDc.135C= (p.Asp45=)
c.30C= (p.Asp10=)
n.2563C=
c.278C= (p.Thr93=)
c.90C= (p.Asp30=)
11g.1761402G>TCA379099811CTSDc.135C>A (p.Asp45Glu)
c.30C>A (p.Asp10Glu)
n.2563C>A
c.278C>A (p.Thr93Asn)
c.90C>A (p.Asp30Glu)
11g.1761403T>ACA379099821CTSDc.134A>T (p.Asp45Val)
c.29A>T (p.Asp10Val)
n.2562A>T
c.277A>T (p.Thr93Ser)
c.89A>T (p.Asp30Val)
11g.1761403T>CCA379099818CTSDc.134A>G (p.Asp45Gly)
c.29A>G (p.Asp10Gly)
n.2562A>G
c.277A>G (p.Thr93Ala)
c.89A>G (p.Asp30Gly)
 gnomAD v4
11g.1761403T>GCA379099815CTSDc.134A>C (p.Asp45Ala)
c.29A>C (p.Asp10Ala)
n.2562A>C
c.277A>C (p.Thr93Pro)
c.89A>C (p.Asp30Ala)
11g.1761404C>ACA379099824CTSDc.133G>T (p.Asp45Tyr)
c.28G>T (p.Asp10Tyr)
n.2561G>T
c.276G>T (p.Arg92Ser)
c.88G>T (p.Asp30Tyr)
11g.1761404C=CA1947836759CTSDc.133G= (p.Asp45=)
c.28G= (p.Asp10=)
n.2561G=
c.276G= (p.Arg92=)
c.88G= (p.Asp30=)
11g.1761404C>GCA379099825CTSDc.133G>C (p.Asp45His)
c.28G>C (p.Asp10His)
n.2561G>C
c.276G>C (p.Arg92Ser)
c.88G>C (p.Asp30His)
11g.1761404C>TCA379099826CTSDc.133G>A (p.Asp45Asn)
c.28G>A (p.Asp10Asn)
n.2561G>A
c.276G>A (p.Arg92=)
c.88G>A (p.Asp30Asn)
 ClinVar dbSNP
11g.1761405C>ACA379099828CTSDc.132G>T (p.Glu44Asp)
c.27G>T (p.Glu9Asp)
n.2560G>T
c.275G>T (p.Arg92Met)
c.87G>T (p.Glu29Asp)
11g.1761405C=CA1947836764CTSDc.132G= (p.Glu44=)
c.27G= (p.Glu9=)
n.2560G=
c.275G= (p.Arg92=)
c.87G= (p.Glu29=)
11g.1761405C>GCA216180962CTSDc.132G>C (p.Glu44Asp)
c.27G>C (p.Glu9Asp)
n.2560G>C
c.275G>C (p.Arg92Thr)
c.87G>C (p.Glu29Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.1761405C>TCA471994943CTSDc.132G>A (p.Glu44=)
c.27G>A (p.Glu9=)
n.2560G>A
c.275G>A (p.Arg92Lys)
c.87G>A (p.Glu29=)
11g.1761406T>ACA379099831CTSDc.131A>T (p.Glu44Val)
c.26A>T (p.Glu9Val)
n.2559A>T
c.274A>T (p.Arg92Trp)
c.86A>T (p.Glu29Val)
 ClinVar dbSNP
11g.1761406T>CCA379099832CTSDc.131A>G (p.Glu44Gly)
c.26A>G (p.Glu9Gly)
n.2559A>G
c.274A>G (p.Arg92Gly)
c.86A>G (p.Glu29Gly)
11g.1761406T>GCA379099834CTSDc.131A>C (p.Glu44Ala)
c.26A>C (p.Glu9Ala)
n.2559A>C
c.274A>C (p.Arg92=)
c.86A>C (p.Glu29Ala)
11g.1761406T=CA1947836767CTSDc.131A= (p.Glu44=)
c.26A= (p.Glu9=)
n.2559A=
c.274A= (p.Arg92=)
c.86A= (p.Glu29=)
11g.1761407C>ACA379099836CTSDc.130G>T (p.Glu44Ter)
c.25G>T (p.Glu9Ter)
n.2558G>T
c.273G>T (p.Trp91Cys)
c.85G>T (p.Glu29Ter)
11g.1761407C=CA1947836771CTSDc.130G= (p.Glu44=)
c.25G= (p.Glu9=)
n.2558G=
c.273G= (p.Trp91=)
c.85G= (p.Glu29=)
11g.1761407C>GCA379099837CTSDc.130G>C (p.Glu44Gln)
c.25G>C (p.Glu9Gln)
n.2558G>C
c.273G>C (p.Trp91Cys)
c.85G>C (p.Glu29Gln)
11g.1761407C>TCA379099839CTSDc.130G>A (p.Glu44Lys)
c.25G>A (p.Glu9Lys)
n.2558G>A
c.273G>A (p.Trp91Ter)
c.85G>A (p.Glu29Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.1761408C>ACA471994944CTSDc.129G>T (p.Val43=)
c.24G>T (p.Val8=)
n.2557G>T
c.272G>T (p.Trp91Leu)
c.84G>T (p.Val28=)
11g.1761408C>GCA471994945CTSDc.129G>C (p.Val43=)
c.24G>C (p.Val8=)
n.2557G>C
c.272G>C (p.Trp91Ser)
c.84G>C (p.Val28=)
11g.1761408C>TCA471994946CTSDc.129G>A (p.Val43=)
c.24G>A (p.Val8=)
n.2557G>A
c.272G>A (p.Trp91Ter)
c.84G>A (p.Val28=)
11g.1761410_1761411delCA2611929121CTSDc.128_129del (p.Val43GlyfsTer?)
c.23_24del (p.Val8GlyfsTer?)
n.2556_2557del
c.271_272del (p.Trp91GlufsTer?)
c.83_84del (p.Val28GlyfsTer?)
 gnomAD v4
11g.1761409A>CCA379099845CTSDc.128T>G (p.Val43Gly)
c.23T>G (p.Val8Gly)
n.2556T>G
c.271T>G (p.Trp91Gly)
c.83T>G (p.Val28Gly)
11g.1761409A>GCA379099843CTSDc.128T>C (p.Val43Ala)
c.23T>C (p.Val8Ala)
n.2556T>C
c.271T>C (p.Trp91Arg)
c.83T>C (p.Val28Ala)
11g.1761409A>TCA379099841CTSDc.128T>A (p.Val43Glu)
c.23T>A (p.Val8Glu)
n.2556T>A
c.271T>A (p.Trp91Arg)
c.83T>A (p.Val28Glu)
11g.1761410C>ACA379099847CTSDc.127G>T (p.Val43Leu)
c.22G>T (p.Val8Leu)
n.2555G>T
c.270G>T (p.Leu90=)
c.82G>T (p.Val28Leu)
11g.1761410C=CA1947836775CTSDc.127G= (p.Val43=)
c.22G= (p.Val8=)
n.2555G=
c.270G= (p.Leu90=)
c.82G= (p.Val28=)
11g.1761410C>GCA379099849CTSDc.127G>C (p.Val43Leu)
c.22G>C (p.Val8Leu)
n.2555G>C
c.270G>C (p.Leu90=)
c.82G>C (p.Val28Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.1761410C>TCA379099850CTSDc.127G>A (p.Val43Met)
c.22G>A (p.Val8Met)
n.2555G>A
c.270G>A (p.Leu90=)
c.82G>A (p.Val28Met)
 gnomAD v4
11g.1761411A>CCA471994947CTSDc.126T>G (p.Ser42=)
c.21T>G (p.Ser7=)
n.2554T>G
c.269T>G (p.Leu90Arg)
c.81T>G (p.Ser27=)
11g.1761411A>GCA471994948CTSDc.126T>C (p.Ser42=)
c.21T>C (p.Ser7=)
n.2554T>C
c.269T>C (p.Leu90Pro)
c.81T>C (p.Ser27=)
11g.1761411A>TCA471994949CTSDc.126T>A (p.Ser42=)
c.21T>A (p.Ser7=)
n.2554T>A
c.269T>A (p.Leu90Gln)
c.81T>A (p.Ser27=)
11g.1761412G>ACA379099852CTSDc.125C>T (p.Ser42Phe)
c.20C>T (p.Ser7Phe)
n.2553C>T
c.268C>T (p.Leu90=)
c.80C>T (p.Ser27Phe)
11g.1761412G>CCA379099853CTSDc.125C>G (p.Ser42Cys)
c.20C>G (p.Ser7Cys)
n.2553C>G
c.268C>G (p.Leu90Val)
c.80C>G (p.Ser27Cys)
11g.1761412G>TCA379099854CTSDc.125C>A (p.Ser42Tyr)
c.20C>A (p.Ser7Tyr)
n.2553C>A
c.268C>A (p.Leu90Met)
c.80C>A (p.Ser27Tyr)
11g.1761413A=CA1947836777CTSDc.124T= (p.Ser42=)
c.19T= (p.Ser7=)
n.2552T=
c.267T= (p.Ala89=)
c.79T= (p.Ser27=)
11g.1761413A>CCA379099856CTSDc.124T>G (p.Ser42Ala)
c.19T>G (p.Ser7Ala)
n.2552T>G
c.267T>G (p.Ala89=)
c.79T>G (p.Ser27Ala)
11g.1761413A>GCA379099857CTSDc.124T>C (p.Ser42Pro)
c.19T>C (p.Ser7Pro)
n.2552T>C
c.267T>C (p.Ala89=)
c.79T>C (p.Ser27Pro)
 dbSNP gnomAD v3 gnomAD v4
11g.1761413A>TCA379099859CTSDc.124T>A (p.Ser42Thr)
c.19T>A (p.Ser7Thr)
n.2552T>A
c.267T>A (p.Ala89=)
c.79T>A (p.Ser27Thr)
11g.1761414G>ACA471994950CTSDc.123C>T (p.Gly41=)
c.18C>T (p.Gly6=)
n.2551C>T
c.266C>T (p.Ala89Val)
c.78C>T (p.Gly26=)
 dbSNP gnomAD v4
11g.1761414G>CCA471994952CTSDc.123C>G (p.Gly41=)
c.18C>G (p.Gly6=)
n.2551C>G
c.266C>G (p.Ala89Gly)
c.78C>G (p.Gly26=)
11g.1761414G=CA1947836779CTSDc.123C= (p.Gly41=)
c.18C= (p.Gly6=)
n.2551C=
c.266C= (p.Ala89=)
c.78C= (p.Gly26=)
11g.1761414G>TCA471994953CTSDc.123C>A (p.Gly41=)
c.18C>A (p.Gly6=)
n.2551C>A
c.266C>A (p.Ala89Asp)
c.78C>A (p.Gly26=)
11g.1761415C>ACA379099862CTSDc.122G>T (p.Gly41Val)
c.17G>T (p.Gly6Val)
n.2550G>T
c.265G>T (p.Ala89Ser)
c.77G>T (p.Gly26Val)
 ClinVar
11g.1761415C>GCA379099863CTSDc.122G>C (p.Gly41Ala)
c.17G>C (p.Gly6Ala)
n.2550G>C
c.265G>C (p.Ala89Pro)
c.77G>C (p.Gly26Ala)
11g.1761415C>TCA379099866CTSDc.122G>A (p.Gly41Asp)
c.17G>A (p.Gly6Asp)
n.2550G>A
c.265G>A (p.Ala89Thr)
c.77G>A (p.Gly26Asp)
11g.1761419dupCA5814284CTSDc.122dup (p.Ser42LeufsTer?)
c.17dup (p.Ser7LeufsTer?)
n.2550dup
c.265dup (p.Ala89GlyfsTer?)
c.77dup (p.Ser27LeufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.1761419delCA2611929137CTSDc.122del (p.Gly41AlafsTer6)
c.17del (p.Gly6AlafsTer6)
n.2550del
c.265del (p.Ala89LeufsTer?)
c.77del (p.Gly26AlafsTer6)
 gnomAD v4
11g.1761417_1761419delCA2611929135CTSDc.120_122del (p.Gly41del)
c.15_17del (p.Gly6del)
n.2548_2550del
c.263_265del (p.Gly88del)
c.75_77del (p.Gly26del)
 gnomAD v4
11g.1761416C>ACA379099870CTSDc.121G>T (p.Gly41Cys)
c.16G>T (p.Gly6Cys)
n.2549G>T
c.264G>T (p.Gly88=)
c.76G>T (p.Gly26Cys)
11g.1761416C>GCA379099867CTSDc.121G>C (p.Gly41Arg)
c.16G>C (p.Gly6Arg)
n.2549G>C
c.264G>C (p.Gly88=)
c.76G>C (p.Gly26Arg)
11g.1761416C>TCA379099869CTSDc.121G>A (p.Gly41Ser)
c.16G>A (p.Gly6Ser)
n.2549G>A
c.264G>A (p.Gly88=)
c.76G>A (p.Gly26Ser)
11g.1761417C>ACA5814286CTSDc.120G>T (p.Gly40=)
c.15G>T (p.Gly5=)
n.2548G>T
c.263G>T (p.Gly88Val)
c.75G>T (p.Gly25=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.1761417C=CA1947836783CTSDc.120G= (p.Gly40=)
c.15G= (p.Gly5=)
n.2548G=
c.263G= (p.Gly88=)
c.75G= (p.Gly25=)
11g.1761417C>GCA471994954CTSDc.120G>C (p.Gly40=)
c.15G>C (p.Gly5=)
n.2548G>C
c.263G>C (p.Gly88Ala)
c.75G>C (p.Gly25=)
11g.1761417C>TCA5814285CTSDc.120G>A (p.Gly40=)
c.15G>A (p.Gly5=)
n.2548G>A
c.263G>A (p.Gly88Glu)
c.75G>A (p.Gly25=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761418C>ACA379099875CTSDc.119G>T (p.Gly40Val)
c.14G>T (p.Gly5Val)
n.2547G>T
c.262G>T (p.Gly88Trp)
c.74G>T (p.Gly25Val)
11g.1761418C>GCA379099876CTSDc.119G>C (p.Gly40Ala)
c.14G>C (p.Gly5Ala)
n.2547G>C
c.262G>C (p.Gly88Arg)
c.74G>C (p.Gly25Ala)
11g.1761418C>TCA379099877CTSDc.119G>A (p.Gly40Glu)
c.14G>A (p.Gly5Glu)
n.2547G>A
c.262G>A (p.Gly88Arg)
c.74G>A (p.Gly25Glu)
11g.1761419C>ACA379099879CTSDc.118G>T (p.Gly40Trp)
c.13G>T (p.Gly5Trp)
n.2546G>T
c.261G>T (p.Leu87Phe)
c.73G>T (p.Gly25Trp)
11g.1761419C>GCA379099881CTSDc.118G>C (p.Gly40Arg)
c.13G>C (p.Gly5Arg)
n.2546G>C
c.261G>C (p.Leu87Phe)
c.73G>C (p.Gly25Arg)
11g.1761419C>TCA379099882CTSDc.118G>A (p.Gly40Arg)
c.13G>A (p.Gly5Arg)
n.2546G>A
c.261G>A (p.Leu87=)
c.73G>A (p.Gly25Arg)
 gnomAD v4
11g.1761420A=CA1947836786CTSDc.117T= (p.Val39=)
c.12T= (p.Val4=)
n.2545T=
c.260T= (p.Leu87=)
c.72T= (p.Val24=)
11g.1761420A>CCA471994955CTSDc.117T>G (p.Val39=)
c.12T>G (p.Val4=)
n.2545T>G
c.260T>G (p.Leu87Trp)
c.72T>G (p.Val24=)
11g.1761420A>GCA471994956CTSDc.117T>C (p.Val39=)
c.12T>C (p.Val4=)
n.2545T>C
c.260T>C (p.Leu87Ser)
c.72T>C (p.Val24=)
 ClinVar dbSNP gnomAD v4
11g.1761420A>TCA471994957CTSDc.117T>A (p.Val39=)
c.12T>A (p.Val4=)
n.2545T>A
c.260T>A (p.Leu87Ter)
c.72T>A (p.Val24=)
11g.1761421A=CA1947836788CTSDc.116T= (p.Val39=)
c.11T= (p.Val4=)
n.2544T=
c.259T= (p.Leu87=)
c.71T= (p.Val24=)
11g.1761421A>CCA379099883CTSDc.116T>G (p.Val39Gly)
c.11T>G (p.Val4Gly)
n.2544T>G
c.259T>G (p.Leu87Val)
c.71T>G (p.Val24Gly)
11g.1761421A>GCA379099884CTSDc.116T>C (p.Val39Ala)
c.11T>C (p.Val4Ala)
n.2544T>C
c.259T>C (p.Leu87=)
c.71T>C (p.Val24Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.1761421A>TCA379099885CTSDc.116T>A (p.Val39Asp)
c.11T>A (p.Val4Asp)
n.2544T>A
c.259T>A (p.Leu87Met)
c.71T>A (p.Val24Asp)
11g.1761422C>ACA379099888CTSDc.115G>T (p.Val39Phe)
c.10G>T (p.Val4Phe)
n.2543G>T
c.258G>T (p.Arg86Ser)
c.70G>T (p.Val24Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.1761422C=CA1947836793CTSDc.115G= (p.Val39=)
c.10G= (p.Val4=)
n.2543G=
c.258G= (p.Arg86=)
c.70G= (p.Val24=)
11g.1761422C>GCA5814287CTSDc.115G>C (p.Val39Leu)
c.10G>C (p.Val4Leu)
n.2543G>C
c.258G>C (p.Arg86Ser)
c.70G>C (p.Val24Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.1761422C>TCA379099886CTSDc.115G>A (p.Val39Ile)
c.10G>A (p.Val4Ile)
n.2543G>A
c.258G>A (p.Arg86=)
c.70G>A (p.Val24Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.1761423C>ACA379099891CTSDc.114G>T (p.Glu38Asp)
c.9G>T (p.Glu3Asp)
n.2542G>T
c.257G>T (p.Arg86Met)
c.69G>T (p.Glu23Asp)
11g.1761423C>GCA379099892CTSDc.114G>C (p.Glu38Asp)
c.9G>C (p.Glu3Asp)
n.2542G>C
c.257G>C (p.Arg86Thr)
c.69G>C (p.Glu23Asp)
11g.1761423C>TCA471994958CTSDc.114G>A (p.Glu38=)
c.9G>A (p.Glu3=)
n.2542G>A
c.257G>A (p.Arg86Lys)
c.69G>A (p.Glu23=)
 ClinVar
11g.1761424T>ACA379099895CTSDc.113A>T (p.Glu38Val)
c.8A>T (p.Glu3Val)
n.2541A>T
c.256A>T (p.Arg86Trp)
c.68A>T (p.Glu23Val)
11g.1761424T>CCA379099896CTSDc.113A>G (p.Glu38Gly)
c.8A>G (p.Glu3Gly)
n.2541A>G
c.256A>G (p.Arg86Gly)
c.68A>G (p.Glu23Gly)
11g.1761424T>GCA379099898CTSDc.113A>C (p.Glu38Ala)
c.8A>C (p.Glu3Ala)
n.2541A>C
c.256A>C (p.Arg86=)
c.68A>C (p.Glu23Ala)
11g.1761425C>ACA379099900CTSDc.112G>T (p.Glu38Ter)
c.7G>T (p.Glu3Ter)
n.2540G>T
c.255G>T (p.Arg85=)
c.67G>T (p.Glu23Ter)
11g.1761425C=CA1947836797CTSDc.112G= (p.Glu38=)
c.7G= (p.Glu3=)
n.2540G=
c.255G= (p.Arg85=)
c.67G= (p.Glu23=)
11g.1761425C>GCA379099902CTSDc.112G>C (p.Glu38Gln)
c.7G>C (p.Glu3Gln)
n.2540G>C
c.255G>C (p.Arg85=)
c.67G>C (p.Glu23Gln)
11g.1761425C>TCA5814288CTSDc.112G>A (p.Glu38Lys)
c.7G>A (p.Glu3Lys)
n.2540G>A
c.255G>A (p.Arg85=)
c.67G>A (p.Glu23Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.1761426C>ACA471994959CTSDc.111G>T (p.Ser37=)
c.6G>T (p.Ser2=)
n.2539G>T
c.254G>T (p.Arg85Leu)
c.66G>T (p.Ser22=)
11g.1761426C=CA1947836803CTSDc.111G= (p.Ser37=)
c.6G= (p.Ser2=)
n.2539G=
c.254G= (p.Arg85=)
c.66G= (p.Ser22=)
11g.1761426C>GCA5814290CTSDc.111G>C (p.Ser37=)
c.6G>C (p.Ser2=)
n.2539G>C
c.254G>C (p.Arg85Pro)
c.66G>C (p.Ser22=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761426C>TCA5814289CTSDc.111G>A (p.Ser37=)
c.6G>A (p.Ser2=)
n.2539G>A
c.254G>A (p.Arg85Gln)
c.66G>A (p.Ser22=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761427G>ACA5814291CTSDc.110C>T (p.Ser37Leu)
c.5C>T (p.Ser2Leu)
n.2538C>T
c.253C>T (p.Arg85Trp)
c.65C>T (p.Ser22Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761427G>CCA379099904CTSDc.110C>G (p.Ser37Trp)
c.5C>G (p.Ser2Trp)
n.2538C>G
c.253C>G (p.Arg85Gly)
c.65C>G (p.Ser22Trp)
11g.1761427G=CA1947836809CTSDc.110C= (p.Ser37=)
c.5C= (p.Ser2=)
n.2538C=
c.253C= (p.Arg85=)
c.65C= (p.Ser22=)
11g.1761427G>TCA379099906CTSDc.110C>A (p.Ser37Ter)
c.5C>A (p.Ser2Ter)
n.2538C>A
c.253C>A (p.Arg85=)
c.65C>A (p.Ser22Ter)
11g.1761428A>CCA379099911CTSDc.109T>G (p.Ser37Ala)
c.4T>G (p.Ser2Ala)
n.2537T>G
c.252T>G (p.Cys84Trp)
c.64T>G (p.Ser22Ala)
11g.1761428A>GCA379099910CTSDc.109T>C (p.Ser37Pro)
c.4T>C (p.Ser2Pro)
n.2537T>C
c.252T>C (p.Cys84=)
c.64T>C (p.Ser22Pro)
11g.1761428A>TCA379099908CTSDc.109T>A (p.Ser37Thr)
c.4T>A (p.Ser2Thr)
n.2537T>A
c.252T>A (p.Cys84Ter)
c.64T>A (p.Ser22Thr)
11g.1761429C>ACA379099914CTSDc.108G>T (p.Met36Ile)
c.3G>T (p.Met1Ile)
n.2536G>T
c.251G>T (p.Cys84Phe)
c.63G>T (p.Met21Ile)
11g.1761429C>GCA379099917CTSDc.108G>C (p.Met36Ile)
c.3G>C (p.Met1Ile)
n.2536G>C
c.251G>C (p.Cys84Ser)
c.63G>C (p.Met21Ile)
11g.1761429C>TCA379099919CTSDc.108G>A (p.Met36Ile)
c.3G>A (p.Met1Ile)
n.2536G>A
c.251G>A (p.Cys84Tyr)
c.63G>A (p.Met21Ile)
11g.1761430A=CA1947836813CTSDc.107T= (p.Met36=)
c.2T= (p.Met1=)
n.2535T=
c.250T= (p.Cys84=)
c.62T= (p.Met21=)
11g.1761430A>CCA379099922CTSDc.107T>G (p.Met36Arg)
c.2T>G (p.Met1Arg)
n.2535T>G
c.250T>G (p.Cys84Gly)
c.62T>G (p.Met21Arg)
11g.1761430A>GCA5814292CTSDc.107T>C (p.Met36Thr)
c.2T>C (p.Met1Thr)
n.2535T>C
c.250T>C (p.Cys84Arg)
c.62T>C (p.Met21Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.1761430A>TCA379099924CTSDc.107T>A (p.Met36Lys)
c.2T>A (p.Met1Lys)
n.2535T>A
c.250T>A (p.Cys84Ser)
c.62T>A (p.Met21Lys)
11g.1761431T>ACA379099926CTSDc.106A>T (p.Met36Leu)
c.1A>T (p.Met1Leu)
n.2534A>T
c.249A>T (p.Pro83=)
c.61A>T (p.Met21Leu)
11g.1761431T>CCA5814293CTSDc.106A>G (p.Met36Val)
c.1A>G (p.Met1Val)
n.2534A>G
c.249A>G (p.Pro83=)
c.61A>G (p.Met21Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761431T>GCA379099928CTSDc.106A>C (p.Met36Leu)
c.1A>C (p.Met1Leu)
n.2534A>C
c.249A>C (p.Pro83=)
c.61A>C (p.Met21Leu)
11g.1761431T=CA1947836816CTSDc.106A= (p.Met36=)
c.1A= (p.Met1=)
n.2534A=
c.249A= (p.Pro83=)
c.61A= (p.Met21=)
11g.1761432G>ACA471994960CTSDc.105C>T (p.Thr35=)
c.-1C>T (n.-1C>T)
n.2533C>T
c.248C>T (p.Pro83Leu)
c.60C>T (p.Thr20=)
 ClinVar dbSNP
11g.1761432G>CCA471994961CTSDc.105C>G (p.Thr35=)
c.-1C>G (n.-1C>G)
n.2533C>G
c.248C>G (p.Pro83Arg)
c.60C>G (p.Thr20=)
11g.1761432G>TCA471994962CTSDc.105C>A (p.Thr35=)
c.-1C>A (n.-1C>A)
n.2533C>A
c.248C>A (p.Pro83Gln)
c.60C>A (p.Thr20=)
11g.1761433G>ACA379099930CTSDc.104C>T (p.Thr35Ile)
c.-2C>T (n.-2C>T)
n.2532C>T
c.247C>T (p.Pro83Ser)
c.59C>T (p.Thr20Ile)
 gnomAD v4
11g.1761433G>CCA379099932CTSDc.104C>G (p.Thr35Ser)
c.-2C>G (n.-2C>G)
n.2532C>G
c.247C>G (p.Pro83Ala)
c.59C>G (p.Thr20Ser)
11g.1761433G>TCA379099934CTSDc.104C>A (p.Thr35Asn)
c.-2C>A (n.-2C>A)
n.2532C>A
c.247C>A (p.Pro83Thr)
c.59C>A (p.Thr20Asn)
11g.1761434T>ACA379099938CTSDc.103A>T (p.Thr35Ser)
c.-3A>T (n.-3A>T)
n.2531A>T
c.246A>T (p.Gly82=)
c.58A>T (p.Thr20Ser)
11g.1761434T>CCA379099939CTSDc.103A>G (p.Thr35Ala)
c.-3A>G (n.-3A>G)
n.2531A>G
c.246A>G (p.Gly82=)
c.58A>G (p.Thr20Ala)
11g.1761434T>GCA379099936CTSDc.103A>C (p.Thr35Pro)
c.-3A>C (n.-3A>C)
n.2531A>C
c.246A>C (p.Gly82=)
c.58A>C (p.Thr20Pro)
11g.1761435C>ACA471994963CTSDc.102G>T (p.Arg34=)
c.-4G>T (n.-4G>T)
n.2530G>T
c.245G>T (p.Gly82Val)
c.57G>T (p.Arg19=)
11g.1761435C=CA1947836819CTSDc.102G= (p.Arg34=)
c.-4G= (n.-4G=)
n.2530G=
c.245G= (p.Gly82=)
c.57G= (p.Arg19=)
11g.1761435C>GCA471994964CTSDc.102G>C (p.Arg34=)
c.-4G>C (n.-4G>C)
n.2530G>C
c.245G>C (p.Gly82Ala)
c.57G>C (p.Arg19=)
 dbSNP gnomAD v4
11g.1761435C>TCA471994965CTSDc.102G>A (p.Arg34=)
c.-4G>A (n.-4G>A)
n.2530G>A
c.245G>A (p.Gly82Glu)
c.57G>A (p.Arg19=)
 gnomAD v4
11g.1761436C>ACA379099941CTSDc.101G>T (p.Arg34Leu)
c.-5G>T (n.-5G>T)
n.2529G>T
c.244G>T (p.Gly82Ter)
c.56G>T (p.Arg19Leu)
11g.1761436C=CA1947836827CTSDc.101G= (p.Arg34=)
c.-5G= (n.-5G=)
n.2529G=
c.244G= (p.Gly82=)
c.56G= (p.Arg19=)
11g.1761436C>GCA379099943CTSDc.101G>C (p.Arg34Pro)
c.-5G>C (n.-5G>C)
n.2529G>C
c.244G>C (p.Gly82Arg)
c.56G>C (p.Arg19Pro)
 gnomAD v4
11g.1761436C>TCA379099945CTSDc.101G>A (p.Arg34Gln)
c.-5G>A (n.-5G>A)
n.2529G>A
c.244G>A (p.Gly82Arg)
c.56G>A (p.Arg19Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.1761437G>ACA314338CTSDc.100C>T (p.Arg34Trp)
c.-6C>T (n.-6C>T)
n.2528C>T
c.243C>T (p.Ala81=)
c.55C>T (p.Arg19Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.1761437G>CCA379099948CTSDc.100C>G (p.Arg34Gly)
c.-6C>G (n.-6C>G)
n.2528C>G
c.243C>G (p.Ala81=)
c.55C>G (p.Arg19Gly)
11g.1761437G=CA1947836834CTSDc.100C= (p.Arg34=)
c.-6C= (n.-6C=)
n.2528C=
c.243C= (p.Ala81=)
c.55C= (p.Arg19=)
11g.1761437G>TCA471994966CTSDc.100C>A (p.Arg34=)
c.-6C>A (n.-6C>A)
n.2528C>A
c.243C>A (p.Ala81=)
c.55C>A (p.Arg19=)
11g.1761438G>ACA471994968CTSDc.99C>T (p.Arg33=)
c.-7C>T (n.-7C>T)
n.2527C>T
c.242C>T (p.Ala81Val)
c.54C>T (p.Arg18=)
 gnomAD v4
11g.1761438G>CCA471994969CTSDc.99C>G (p.Arg33=)
c.-7C>G (n.-7C>G)
n.2527C>G
c.242C>G (p.Ala81Gly)
c.54C>G (p.Arg18=)
 ClinVar dbSNP
11g.1761438G=CA1947836840CTSDc.99C= (p.Arg33=)
c.-7C= (n.-7C=)
n.2527C=
c.242C= (p.Ala81=)
c.54C= (p.Arg18=)
11g.1761438G>TCA471994967CTSDc.99C>A (p.Arg33=)
c.-7C>A (n.-7C>A)
n.2527C>A
c.242C>A (p.Ala81Asp)
c.54C>A (p.Arg18=)
11g.1761439C>ACA379099950CTSDc.98G>T (p.Arg33Leu)
c.-8G>T (n.-8G>T)
n.2526G>T
c.241G>T (p.Ala81Ser)
c.53G>T (p.Arg18Leu)
11g.1761439C=CA1947836847CTSDc.98G= (p.Arg33=)
c.-8G= (n.-8G=)
n.2526G=
c.241G= (p.Ala81=)
c.53G= (p.Arg18=)
11g.1761439C>GCA379099954CTSDc.98G>C (p.Arg33Pro)
c.-8G>C (n.-8G>C)
n.2526G>C
c.241G>C (p.Ala81Pro)
c.53G>C (p.Arg18Pro)
11g.1761439C>TCA5814294CTSDc.98G>A (p.Arg33His)
c.-8G>A (n.-8G>A)
n.2526G>A
c.241G>A (p.Ala81Thr)
c.53G>A (p.Arg18His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761440G>ACA5814295CTSDc.97C>T (p.Arg33Cys)
c.-9C>T (n.-9C>T)
n.2525C>T
c.240C>T (p.Ser80=)
c.52C>T (p.Arg18Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.1761440G>CCA379099961CTSDc.97C>G (p.Arg33Gly)
c.-9C>G (n.-9C>G)
n.2525C>G
c.240C>G (p.Ser80=)
c.52C>G (p.Arg18Gly)
11g.1761440G=CA1947836850CTSDc.97C= (p.Arg33=)
c.-9C= (n.-9C=)
n.2525C=
c.240C= (p.Ser80=)
c.52C= (p.Arg18=)
11g.1761440G>TCA379099963CTSDc.97C>A (p.Arg33Ser)
c.-9C>A (n.-9C>A)
n.2525C>A
c.240C>A (p.Ser80=)
c.52C>A (p.Arg18Ser)
11g.1761441G>ACA471994970CTSDc.96C>T (p.Ile32=)
c.-10C>T (n.-10C>T)
n.2524C>T
c.239C>T (p.Ser80Phe)
c.51C>T (p.Ile17=)
 dbSNP gnomAD v2 gnomAD v4
11g.1761441G>CCA379099967CTSDc.96C>G (p.Ile32Met)
c.-10C>G (n.-10C>G)
n.2524C>G
c.239C>G (p.Ser80Cys)
c.51C>G (p.Ile17Met)
11g.1761441G=CA1947836855CTSDc.96C= (p.Ile32=)
c.-10C= (n.-10C=)
n.2524C=
c.239C= (p.Ser80=)
c.51C= (p.Ile17=)
11g.1761441G>TCA471994971CTSDc.96C>A (p.Ile32=)
c.-10C>A (n.-10C>A)
n.2524C>A
c.239C>A (p.Ser80Tyr)
c.51C>A (p.Ile17=)
11g.1761442A>CCA379099973CTSDc.95T>G (p.Ile32Ser)
c.-11T>G (n.-11T>G)
n.2523T>G
c.238T>G (p.Ser80Ala)
c.50T>G (p.Ile17Ser)
11g.1761442A>GCA379099977CTSDc.95T>C (p.Ile32Thr)
c.-11T>C (n.-11T>C)
n.2523T>C
c.238T>C (p.Ser80Pro)
c.50T>C (p.Ile17Thr)
11g.1761442A>TCA379099970CTSDc.95T>A (p.Ile32Asn)
c.-11T>A (n.-11T>A)
n.2523T>A
c.238T>A (p.Ser80Thr)
c.50T>A (p.Ile17Asn)
11g.1761443T>ACA379099980CTSDc.94A>T (p.Ile32Phe)
c.-12A>T (n.-12A>T)
n.2522A>T
c.237A>T (p.Pro79=)
c.49A>T (p.Ile17Phe)
11g.1761443T>CCA379099983CTSDc.94A>G (p.Ile32Val)
c.-12A>G (n.-12A>G)
n.2522A>G
c.237A>G (p.Pro79=)
c.49A>G (p.Ile17Val)
 ClinVar gnomAD v4
11g.1761443T>GCA379099985CTSDc.94A>C (p.Ile32Leu)
c.-12A>C (n.-12A>C)
n.2522A>C
c.237A>C (p.Pro79=)
c.49A>C (p.Ile17Leu)
11g.1761444G>ACA471994972CTSDc.93C>T (p.Ser31=)
c.-13C>T (n.-13C>T)
n.2521C>T
c.236C>T (p.Pro79Leu)
c.48C>T (p.Ser16=)
11g.1761444G>CCA471994973CTSDc.93C>G (p.Ser31=)
c.-13C>G (n.-13C>G)
n.2521C>G
c.236C>G (p.Pro79Arg)
c.48C>G (p.Ser16=)
11g.1761444G>TCA471994974CTSDc.93C>A (p.Ser31=)
c.-13C>A (n.-13C>A)
n.2521C>A
c.236C>A (p.Pro79Gln)
c.48C>A (p.Ser16=)
11g.1761445G>ACA379099989CTSDc.92C>T (p.Ser31Phe)
c.-14C>T (n.-14C>T)
n.2520C>T
c.235C>T (p.Pro79Ser)
c.47C>T (p.Ser16Phe)
11g.1761445G>CCA379099991CTSDc.92C>G (p.Ser31Cys)
c.-14C>G (n.-14C>G)
n.2520C>G
c.235C>G (p.Pro79Ala)
c.47C>G (p.Ser16Cys)
11g.1761445G>TCA379099994CTSDc.92C>A (p.Ser31Tyr)
c.-14C>A (n.-14C>A)
n.2520C>A
c.235C>A (p.Pro79Thr)
c.47C>A (p.Ser16Tyr)
11g.1761446A>CCA379099998CTSDc.91T>G (p.Ser31Ala)
c.-15T>G (n.-15T>G)
n.2519T>G
c.234T>G (p.Arg78=)
c.46T>G (p.Ser16Ala)
11g.1761446A>GCA379100002CTSDc.91T>C (p.Ser31Pro)
c.-15T>C (n.-15T>C)
n.2519T>C
c.234T>C (p.Arg78=)
c.46T>C (p.Ser16Pro)
 COSMIC
11g.1761446A>TCA379099999CTSDc.91T>A (p.Ser31Thr)
c.-15T>A (n.-15T>A)
n.2519T>A
c.234T>A (p.Arg78=)
c.46T>A (p.Ser16Thr)
11g.1761447C>ACA471994976CTSDc.90G>T (p.Thr30=)
c.-16G>T (n.-16G>T)
n.2518G>T
c.233G>T (p.Arg78Leu)
c.45G>T (p.Thr15=)
11g.1761447C=CA1947836860CTSDc.90G= (p.Thr30=)
c.-16G= (n.-16G=)
n.2518G=
c.233G= (p.Arg78=)
c.45G= (p.Thr15=)
11g.1761447C>GCA471994975CTSDc.90G>C (p.Thr30=)
c.-16G>C (n.-16G>C)
n.2518G>C
c.233G>C (p.Arg78Pro)
c.45G>C (p.Thr15=)
11g.1761447C>TCA5814296CTSDc.90G>A (p.Thr30=)
c.-16G>A (n.-16G>A)
n.2518G>A
c.233G>A (p.Arg78His)
c.45G>A (p.Thr15=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761448G>ACA5814297CTSDc.89C>T (p.Thr30Met)
c.-17C>T (n.-17C>T)
n.2517C>T
c.232C>T (p.Arg78Cys)
c.44C>T (p.Thr15Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.1761448G>CCA379100007CTSDc.89C>G (p.Thr30Arg)
c.-17C>G (n.-17C>G)
n.2517C>G
c.232C>G (p.Arg78Gly)
c.44C>G (p.Thr15Arg)
11g.1761448G=CA1947836866CTSDc.89C= (p.Thr30=)
c.-17C= (n.-17C=)
n.2517C=
c.232C= (p.Arg78=)
c.44C= (p.Thr15=)
11g.1761448G>TCA379100011CTSDc.89C>A (p.Thr30Lys)
c.-17C>A (n.-17C>A)
n.2517C>A
c.232C>A (p.Arg78Ser)
c.44C>A (p.Thr15Lys)
11g.1761449T>ACA379100020CTSDc.88A>T (p.Thr30Ser)
c.-18A>T (n.-18A>T)
n.2516A>T
c.231A>T (p.Ser77=)
c.43A>T (p.Thr15Ser)
11g.1761449T>CCA379100018CTSDc.88A>G (p.Thr30Ala)
c.-18A>G (n.-18A>G)
n.2516A>G
c.231A>G (p.Ser77=)
c.43A>G (p.Thr15Ala)
 gnomAD v4
11g.1761449T>GCA379100015CTSDc.88A>C (p.Thr30Pro)
c.-18A>C (n.-18A>C)
n.2516A>C
c.231A>C (p.Ser77=)
c.43A>C (p.Thr15Pro)
11g.1761450G>ACA471994977CTSDc.87C>T (p.Phe29=)
c.-19C>T (n.-19C>T)
n.2515C>T
c.230C>T (p.Ser77Leu)
c.42C>T (p.Phe14=)
 gnomAD v4
11g.1761450G>CCA379100023CTSDc.87C>G (p.Phe29Leu)
c.-19C>G (n.-19C>G)
n.2515C>G
c.230C>G (p.Ser77Ter)
c.42C>G (p.Phe14Leu)
11g.1761450G>TCA379100025CTSDc.87C>A (p.Phe29Leu)
c.-19C>A (n.-19C>A)
n.2515C>A
c.230C>A (p.Ser77Ter)
c.42C>A (p.Phe14Leu)
 COSMIC
11g.1761451A=CA1947836869CTSDc.86T= (p.Phe29=)
c.-20T= (n.-20T=)
n.2514T=
c.229T= (p.Ser77=)
c.41T= (p.Phe14=)
11g.1761451A>CCA379100028CTSDc.86T>G (p.Phe29Cys)
c.-20T>G (n.-20T>G)
n.2514T>G
c.229T>G (p.Ser77Ala)
c.41T>G (p.Phe14Cys)
 dbSNP
11g.1761451A>GCA379100043CTSDc.86T>C (p.Phe29Ser)
c.-20T>C (n.-20T>C)
n.2514T>C
c.229T>C (p.Ser77Pro)
c.41T>C (p.Phe14Ser)
11g.1761451A>TCA379100034CTSDc.86T>A (p.Phe29Tyr)
c.-20T>A (n.-20T>A)
n.2514T>A
c.229T>A (p.Ser77Thr)
c.41T>A (p.Phe14Tyr)
11g.1761452A>CCA379100045CTSDc.85T>G (p.Phe29Val)
c.-21T>G (n.-21T>G)
n.2513T>G
c.228T>G (p.Ser76Arg)
c.40T>G (p.Phe14Val)
11g.1761452A>GCA379100050CTSDc.85T>C (p.Phe29Leu)
c.-21T>C (n.-21T>C)
n.2513T>C
c.228T>C (p.Ser76=)
c.40T>C (p.Phe14Leu)
11g.1761452A>TCA379100047CTSDc.85T>A (p.Phe29Ile)
c.-21T>A (n.-21T>A)
n.2513T>A
c.228T>A (p.Ser76Arg)
c.40T>A (p.Phe14Ile)
11g.1761453C>ACA379100053CTSDc.84G>T (p.Lys28Asn)
c.-22G>T (n.-22G>T)
n.2512G>T
c.227G>T (p.Ser76Ile)
c.39G>T (p.Lys13Asn)
11g.1761453C=CA1947836871CTSDc.84G= (p.Lys28=)
c.-22G= (n.-22G=)
n.2512G=
c.227G= (p.Ser76=)
c.39G= (p.Lys13=)
11g.1761453C>GCA379100054CTSDc.84G>C (p.Lys28Asn)
c.-22G>C (n.-22G>C)
n.2512G>C
c.227G>C (p.Ser76Thr)
c.39G>C (p.Lys13Asn)
11g.1761453C>TCA471994978CTSDc.84G>A (p.Lys28=)
c.-22G>A (n.-22G>A)
n.2512G>A
c.227G>A (p.Ser76Asn)
c.39G>A (p.Lys13=)
 ClinVar dbSNP gnomAD v4
11g.1761454T>ACA379100059CTSDc.83A>T (p.Lys28Met)
c.-23A>T (n.-23A>T)
n.2511A>T
c.226A>T (p.Ser76Cys)
c.38A>T (p.Lys13Met)
11g.1761454T>CCA379100062CTSDc.83A>G (p.Lys28Arg)
c.-23A>G (n.-23A>G)
n.2511A>G
c.226A>G (p.Ser76Gly)
c.38A>G (p.Lys13Arg)
11g.1761454T>GCA379100065CTSDc.83A>C (p.Lys28Thr)
c.-23A>C (n.-23A>C)
n.2511A>C
c.226A>C (p.Ser76Arg)
c.38A>C (p.Lys13Thr)
11g.1761454_1761456delinsTTGCA1947836873CTSDc.81_83delinsCAA (p.His27=)
c.-25_-23delinsCAA (n.-25_-23delinsCAA)
n.2509_2511delinsCAA
c.224_226delinsCAA (p.Thr75=)
c.36_38delinsCAA (p.His12=)
11g.1761455T>ACA379100069CTSDc.82A>T (p.Lys28Ter)
c.-24A>T (n.-24A>T)
n.2510A>T
c.225A>T (p.Thr75=)
c.37A>T (p.Lys13Ter)
11g.1761455T>CCA5814298CTSDc.82A>G (p.Lys28Glu)
c.-24A>G (n.-24A>G)
n.2510A>G
c.225A>G (p.Thr75=)
c.37A>G (p.Lys13Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761455T>GCA379100072CTSDc.82A>C (p.Lys28Gln)
c.-24A>C (n.-24A>C)
n.2510A>C
c.225A>C (p.Thr75=)
c.37A>C (p.Lys13Gln)
11g.1761455T=CA1947836875CTSDc.82A= (p.Lys28=)
c.-24A= (n.-24A=)
n.2510A=
c.225A= (p.Thr75=)
c.37A= (p.Lys13=)
11g.1761457_1761458delCA1947836876CTSDc.81_82del (p.His27GlnfsTer?)
c.-25_-24del (n.-25_-24del)
n.2509_2510del
c.224_225del (p.Thr75LysfsTer?)
c.36_37del (p.His12GlnfsTer?)
 dbSNP
11g.1761456G>ACA471994979CTSDc.81C>T (p.His27=)
c.-25C>T (n.-25C>T)
n.2509C>T
c.224C>T (p.Thr75Ile)
c.36C>T (p.His12=)
 gnomAD v4
11g.1761456G>CCA379100075CTSDc.81C>G (p.His27Gln)
c.-25C>G (n.-25C>G)
n.2509C>G
c.224C>G (p.Thr75Arg)
c.36C>G (p.His12Gln)
11g.1761456G>TCA379100083CTSDc.81C>A (p.His27Gln)
c.-25C>A (n.-25C>A)
n.2509C>A
c.224C>A (p.Thr75Lys)
c.36C>A (p.His12Gln)
 dbSNP
11g.1761457T>ACA379100086CTSDc.80A>T (p.His27Leu)
c.-26A>T (n.-26A>T)
n.2508A>T
c.223A>T (p.Thr75Ser)
c.35A>T (p.His12Leu)
11g.1761457T>CCA379100091CTSDc.80A>G (p.His27Arg)
c.-26A>G (n.-26A>G)
n.2508A>G
c.223A>G (p.Thr75Ala)
c.35A>G (p.His12Arg)
11g.1761457T>GCA379100093CTSDc.80A>C (p.His27Pro)
c.-26A>C (n.-26A>C)
n.2508A>C
c.223A>C (p.Thr75Pro)
c.35A>C (p.His12Pro)
11g.1761457_1761464delinsTGCAGCGGCA1947836879CTSDc.73_80delinsCCGCTGCA (p.Pro25=)
c.-33_-26delinsCCGCTGCA (n.-33_-26delinsCCGCTGCA)
n.2501_2508delinsCCGCTGCA
c.216_223delinsCCGCTGCA (p.Ser72=)
c.28_35delinsCCGCTGCA (p.Pro10=)
11g.1761458G>ACA379100102CTSDc.79C>T (p.His27Tyr)
c.-27C>T (n.-27C>T)
n.2507C>T
c.222C>T (p.Cys74=)
c.34C>T (p.His12Tyr)
11g.1761458G>CCA379100099CTSDc.79C>G (p.His27Asp)
c.-27C>G (n.-27C>G)
n.2507C>G
c.222C>G (p.Cys74Trp)
c.34C>G (p.His12Asp)
11g.1761458G>TCA379100096CTSDc.79C>A (p.His27Asn)
c.-27C>A (n.-27C>A)
n.2507C>A
c.222C>A (p.Cys74Ter)
c.34C>A (p.His12Asn)
11g.1761459_1761465delCA597430691CTSDc.73_79del (p.Pro25ThrfsTer20)
c.-33_-27del (n.-33_-27del)
n.2501_2507del
c.216_222del (p.Arg73GlnfsTer?)
c.28_34del (p.Pro10ThrfsTer20)
 dbSNP gnomAD v2 gnomAD v4
11g.1761459C>ACA471994982CTSDc.78G>T (p.Leu26=)
c.-28G>T (n.-28G>T)
n.2506G>T
c.221G>T (p.Cys74Phe)
c.33G>T (p.Leu11=)
11g.1761459C>GCA471994980CTSDc.78G>C (p.Leu26=)
c.-28G>C (n.-28G>C)
n.2506G>C
c.221G>C (p.Cys74Ser)
c.33G>C (p.Leu11=)
11g.1761459C>TCA471994981CTSDc.78G>A (p.Leu26=)
c.-28G>A (n.-28G>A)
n.2506G>A
c.221G>A (p.Cys74Tyr)
c.33G>A (p.Leu11=)
 gnomAD v4
11g.1761460A>CCA379100106CTSDc.77T>G (p.Leu26Arg)
c.-29T>G (n.-29T>G)
n.2505T>G
c.220T>G (p.Cys74Gly)
c.32T>G (p.Leu11Arg)
11g.1761460A>GCA379100108CTSDc.77T>C (p.Leu26Pro)
c.-29T>C (n.-29T>C)
n.2505T>C
c.220T>C (p.Cys74Arg)
c.32T>C (p.Leu11Pro)
11g.1761460A>TCA379100111CTSDc.77T>A (p.Leu26Gln)
c.-29T>A (n.-29T>A)
n.2505T>A
c.220T>A (p.Cys74Ser)
c.32T>A (p.Leu11Gln)
11g.1761461G>ACA471994984CTSDc.76C>T (p.Leu26=)
c.-30C>T (n.-30C>T)
n.2504C>T
c.219C>T (p.Arg73=)
c.31C>T (p.Leu11=)
 dbSNP gnomAD v3 gnomAD v4
11g.1761461G>CCA379100113CTSDc.76C>G (p.Leu26Val)
c.-30C>G (n.-30C>G)
n.2504C>G
c.219C>G (p.Arg73=)
c.31C>G (p.Leu11Val)
11g.1761461G=CA1947836886CTSDc.76C= (p.Leu26=)
c.-30C= (n.-30C=)
n.2504C=
c.219C= (p.Arg73=)
c.31C= (p.Leu11=)
11g.1761461G>TCA216181046CTSDc.76C>A (p.Leu26Met)
c.-30C>A (n.-30C>A)
n.2504C>A
c.219C>A (p.Arg73=)
c.31C>A (p.Leu11Met)
 ClinVar dbSNP
11g.1761462C>ACA471994986CTSDc.75G>T (p.Pro25=)
c.-31G>T (n.-31G>T)
n.2503G>T
c.218G>T (p.Arg73Leu)
c.30G>T (p.Pro10=)
11g.1761462C=CA1947836891CTSDc.75G= (p.Pro25=)
c.-31G= (n.-31G=)
n.2503G=
c.218G= (p.Arg73=)
c.30G= (p.Pro10=)
11g.1761462C>GCA471994987CTSDc.75G>C (p.Pro25=)
c.-31G>C (n.-31G>C)
n.2503G>C
c.218G>C (p.Arg73Pro)
c.30G>C (p.Pro10=)
11g.1761462C>TCA241445CTSDc.75G>A (p.Pro25=)
c.-31G>A (n.-31G>A)
n.2503G>A
c.218G>A (p.Arg73His)
c.30G>A (p.Pro10=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761463G>ACA5814299CTSDc.74C>T (p.Pro25Leu)
c.-32C>T (n.-32C>T)
n.2502C>T
c.217C>T (p.Arg73Cys)
c.29C>T (p.Pro10Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761463G>CCA379100124CTSDc.74C>G (p.Pro25Arg)
c.-32C>G (n.-32C>G)
n.2502C>G
c.217C>G (p.Arg73Gly)
c.29C>G (p.Pro10Arg)
11g.1761463G=CA1947836899CTSDc.74C= (p.Pro25=)
c.-32C= (n.-32C=)
n.2502C=
c.217C= (p.Arg73=)
c.29C= (p.Pro10=)
11g.1761463G>TCA379100127CTSDc.74C>A (p.Pro25Gln)
c.-32C>A (n.-32C>A)
n.2502C>A
c.217C>A (p.Arg73Ser)
c.29C>A (p.Pro10Gln)
11g.1761464G>ACA5814300CTSDc.73C>T (p.Pro25Ser)
c.-33C>T (n.-33C>T)
n.2501C>T
c.216C>T (p.Ser72=)
c.28C>T (p.Pro10Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1761464G>CCA379100133CTSDc.73C>G (p.Pro25Ala)
c.-33C>G (n.-33C>G)
n.2501C>G
c.216C>G (p.Ser72=)
c.28C>G (p.Pro10Ala)
11g.1761464G=CA1947836904CTSDc.73C= (p.Pro25=)
c.-33C= (n.-33C=)
n.2501C=
c.216C= (p.Ser72=)
c.28C= (p.Pro10=)
11g.1761464G>TCA379100136CTSDc.73C>A (p.Pro25Thr)
c.-33C>A (n.-33C>A)
n.2501C>A
c.216C>A (p.Ser72=)
c.28C>A (p.Pro10Thr)

Number of alleles fetched