Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.49973805T>ACA500989060DLX4n.1466T>A
c.585T>A (p.Ser195=)
c.369T>A (p.Ser123=)
c.*455T>A (n.*455T>A)
17g.49973805T>CCA500989061DLX4n.1466T>C
c.585T>C (p.Ser195=)
c.369T>C (p.Ser123=)
c.*455T>C (n.*455T>C)
17g.49973805T>GCA500989062DLX4n.1466T>G
c.585T>G (p.Ser195=)
c.369T>G (p.Ser123=)
c.*455T>G (n.*455T>G)
17g.49973806C>ACA400168375DLX4n.1467C>A
c.586C>A (p.Pro196Thr)
c.370C>A (p.Pro124Thr)
c.*456C>A (n.*456C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.49973806C=CA2263813847DLX4n.1467C=
c.586C= (p.Pro196=)
c.370C= (p.Pro124=)
c.*456C= (n.*456C=)
17g.49973806C>GCA400168376DLX4n.1467C>G
c.586C>G (p.Pro196Ala)
c.370C>G (p.Pro124Ala)
c.*456C>G (n.*456C>G)
17g.49973806C>TCA8640878DLX4n.1467C>T
c.586C>T (p.Pro196Ser)
c.370C>T (p.Pro124Ser)
c.*456C>T (n.*456C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.49973807C>ACA400168379DLX4n.1468C>A
c.587C>A (p.Pro196His)
c.371C>A (p.Pro124His)
c.*457C>A (n.*457C>A)
17g.49973807C=CA2263813848DLX4n.1468C=
c.587C= (p.Pro196=)
c.371C= (p.Pro124=)
c.*457C= (n.*457C=)
17g.49973807C>GCA400168383DLX4n.1468C>G
c.587C>G (p.Pro196Arg)
c.371C>G (p.Pro124Arg)
c.*457C>G (n.*457C>G)
17g.49973807C>TCA8640879DLX4n.1468C>T
c.587C>T (p.Pro196Leu)
c.371C>T (p.Pro124Leu)
c.*457C>T (n.*457C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.49973808C>ACA500989066DLX4n.1469C>A
c.588C>A (p.Pro196=)
c.372C>A (p.Pro124=)
c.*458C>A (n.*458C>A)
17g.49973808C>GCA500989067DLX4n.1469C>G
c.588C>G (p.Pro196=)
c.372C>G (p.Pro124=)
c.*458C>G (n.*458C>G)
17g.49973808C>TCA500989069DLX4n.1469C>T
c.588C>T (p.Pro196=)
c.372C>T (p.Pro124=)
c.*458C>T (n.*458C>T)
 gnomAD v4
17g.49973809T>ACA400168389DLX4n.1470T>A
c.589T>A (p.Cys197Ser)
c.373T>A (p.Cys125Ser)
c.*459T>A (n.*459T>A)
17g.49973809T>CCA400168398DLX4n.1470T>C
c.589T>C (p.Cys197Arg)
c.373T>C (p.Cys125Arg)
c.*459T>C (n.*459T>C)
17g.49973809T>GCA400168402DLX4n.1470T>G
c.589T>G (p.Cys197Gly)
c.373T>G (p.Cys125Gly)
c.*459T>G (n.*459T>G)
 gnomAD v4
17g.49973809_49973810insTTTTTTAATCA2638666135DLX4n.1470_1471insTTTTTTAAT
c.589_590insTTTTTTAAT (p.Cys197PhefsTer3)
c.373_374insTTTTTTAAT (p.Cys125PhefsTer3)
c.*459_*460insTTTTTTAAT (n.*459_*460insTTTTTTAAT)
 gnomAD v4
17g.49973810G>ACA400168406DLX4n.1471G>A
c.590G>A (p.Cys197Tyr)
c.374G>A (p.Cys125Tyr)
c.*460G>A (n.*460G>A)
 gnomAD v4
17g.49973810G>CCA400168411DLX4n.1471G>C
c.590G>C (p.Cys197Ser)
c.374G>C (p.Cys125Ser)
c.*460G>C (n.*460G>C)
17g.49973810G>TCA400168408DLX4n.1471G>T
c.590G>T (p.Cys197Phe)
c.374G>T (p.Cys125Phe)
c.*460G>T (n.*460G>T)
17g.49973811C>ACA400168413DLX4n.1472C>A
c.591C>A (p.Cys197Ter)
c.375C>A (p.Cys125Ter)
c.*461C>A (n.*461C>A)
 gnomAD v4
17g.49973811C>GCA400168416DLX4n.1472C>G
c.591C>G (p.Cys197Trp)
c.375C>G (p.Cys125Trp)
c.*461C>G (n.*461C>G)
17g.49973811C>TCA500989073DLX4n.1472C>T
c.591C>T (p.Cys197=)
c.375C>T (p.Cys125=)
c.*461C>T (n.*461C>T)
 gnomAD v4
17g.49973812T>ACA400168420DLX4n.1473T>A
c.592T>A (p.Ser198Thr)
c.376T>A (p.Ser126Thr)
c.*462T>A (n.*462T>A)
 gnomAD v4
17g.49973812T>CCA400168422DLX4n.1473T>C
c.592T>C (p.Ser198Pro)
c.376T>C (p.Ser126Pro)
c.*462T>C (n.*462T>C)
17g.49973812T>GCA400168423DLX4n.1473T>G
c.592T>G (p.Ser198Ala)
c.376T>G (p.Ser126Ala)
c.*462T>G (n.*462T>G)
17g.49973812_49973813insGCA2573105920DLX4n.1473_1474insG
c.592_593insG (p.Ser198CysfsTer?)
c.376_377insG (p.Ser126CysfsTer?)
c.*462_*463insG (n.*462_*463insG)
17g.49973813C>ACA400168425DLX4n.1474C>A
c.593C>A (p.Ser198Tyr)
c.377C>A (p.Ser126Tyr)
c.*463C>A (n.*463C>A)
 gnomAD v4
17g.49973813C=CA2263813849DLX4n.1474C=
c.593C= (p.Ser198=)
c.377C= (p.Ser126=)
c.*463C= (n.*463C=)
17g.49973813C>GCA400168427DLX4n.1474C>G
c.593C>G (p.Ser198Cys)
c.377C>G (p.Ser126Cys)
c.*463C>G (n.*463C>G)
 dbSNP gnomAD v4
17g.49973813C>TCA400168428DLX4n.1474C>T
c.593C>T (p.Ser198Phe)
c.377C>T (p.Ser126Phe)
c.*463C>T (n.*463C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.49973817_49973821dupCA2638666136DLX4n.1478_1482dup
c.597_601dup (p.Leu201HisfsTer?)
c.381_385dup (p.Leu129HisfsTer?)
c.*467_*471dup (n.*467_*471dup)
 gnomAD v4
17g.49973814C>ACA500989077DLX4n.1475C>A
c.594C>A (p.Ser198=)
c.378C>A (p.Ser126=)
c.*464C>A (n.*464C>A)
17g.49973814C=CA2263813850DLX4n.1475C=
c.594C= (p.Ser198=)
c.378C= (p.Ser126=)
c.*464C= (n.*464C=)
17g.49973814C>GCA500989078DLX4n.1475C>G
c.594C>G (p.Ser198=)
c.378C>G (p.Ser126=)
c.*464C>G (n.*464C>G)
17g.49973814C>TCA291490572DLX4n.1475C>T
c.594C>T (p.Ser198=)
c.378C>T (p.Ser126=)
c.*464C>T (n.*464C>T)
 dbSNP gnomAD v4
17g.49973814_49973815insGGCGACA2638666137DLX4n.1475_1476insGGCGA
c.594_595insGGCGA (p.Pro199GlyfsTer?)
c.378_379insGGCGA (p.Pro127GlyfsTer?)
c.*464_*465insGGCGA (n.*464_*465insGGCGA)
 gnomAD v4
17g.49973815C>ACA400168432DLX4n.1476C>A
c.595C>A (p.Pro199Thr)
c.379C>A (p.Pro127Thr)
c.*465C>A (n.*465C>A)
17g.49973815C>GCA400168433DLX4n.1476C>G
c.595C>G (p.Pro199Ala)
c.379C>G (p.Pro127Ala)
c.*465C>G (n.*465C>G)
17g.49973815C>TCA400168431DLX4n.1476C>T
c.595C>T (p.Pro199Ser)
c.379C>T (p.Pro127Ser)
c.*465C>T (n.*465C>T)
17g.49973816C>ACA400168436DLX4n.1477C>A
c.596C>A (p.Pro199Gln)
c.380C>A (p.Pro127Gln)
c.*466C>A (n.*466C>A)
 gnomAD v4
17g.49973816C=CA2263813851DLX4n.1477C=
c.596C= (p.Pro199=)
c.380C= (p.Pro127=)
c.*466C= (n.*466C=)
17g.49973816C>GCA400168438DLX4n.1477C>G
c.596C>G (p.Pro199Arg)
c.380C>G (p.Pro127Arg)
c.*466C>G (n.*466C>G)
17g.49973816C>TCA8640880DLX4n.1477C>T
c.596C>T (p.Pro199Leu)
c.380C>T (p.Pro127Leu)
c.*466C>T (n.*466C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.49973817A=CA2263813852DLX4n.1478A=
c.597A= (p.Pro199=)
c.381A= (p.Pro127=)
c.*467A= (n.*467A=)
17g.49973817A>CCA500989081DLX4n.1478A>C
c.597A>C (p.Pro199=)
c.381A>C (p.Pro127=)
c.*467A>C (n.*467A>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.49973817A>GCA500989083DLX4n.1478A>G
c.597A>G (p.Pro199=)
c.381A>G (p.Pro127=)
c.*467A>G (n.*467A>G)
17g.49973817A>TCA500989082DLX4n.1478A>T
c.597A>T (p.Pro199=)
c.381A>T (p.Pro127=)
c.*467A>T (n.*467A>T)
17g.49973818C>ACA400168441DLX4n.1479C>A
c.598C>A (p.Pro200Thr)
c.382C>A (p.Pro128Thr)
c.*468C>A (n.*468C>A)
17g.49973818C>GCA400168443DLX4n.1479C>G
c.598C>G (p.Pro200Ala)
c.382C>G (p.Pro128Ala)
c.*468C>G (n.*468C>G)
17g.49973818C>TCA400168445DLX4n.1479C>T
c.598C>T (p.Pro200Ser)
c.382C>T (p.Pro128Ser)
c.*468C>T (n.*468C>T)
17g.49973821delCA2638666139DLX4n.1482del
c.601del (p.Leu201SerfsTer?)
c.385del (p.Leu129SerfsTer?)
c.*471del (n.*471del)
 gnomAD v4
17g.49973826_49973830delCA2638666138DLX4n.1487_1491del
c.606_610del (p.Ser203LeufsTer?)
c.390_394del (p.Ser131LeufsTer?)
c.*476_*480del (n.*476_*480del)
 gnomAD v4
17g.49973819C>ACA400168448DLX4n.1480C>A
c.599C>A (p.Pro200His)
c.383C>A (p.Pro128His)
c.*469C>A (n.*469C>A)
17g.49973819C>GCA400168449DLX4n.1480C>G
c.599C>G (p.Pro200Arg)
c.383C>G (p.Pro128Arg)
c.*469C>G (n.*469C>G)
17g.49973819C>TCA400168451DLX4n.1480C>T
c.599C>T (p.Pro200Leu)
c.383C>T (p.Pro128Leu)
c.*469C>T (n.*469C>T)
 gnomAD v4
17g.49973820C>ACA500989087DLX4n.1481C>A
c.600C>A (p.Pro200=)
c.384C>A (p.Pro128=)
c.*470C>A (n.*470C>A)
 dbSNP gnomAD v4
17g.49973820C=CA2263813853DLX4n.1481C=
c.600C= (p.Pro200=)
c.384C= (p.Pro128=)
c.*470C= (n.*470C=)
17g.49973820C>GCA500989088DLX4n.1481C>G
c.600C>G (p.Pro200=)
c.384C>G (p.Pro128=)
c.*470C>G (n.*470C>G)
17g.49973820C>TCA500989089DLX4n.1481C>T
c.600C>T (p.Pro200=)
c.384C>T (p.Pro128=)
c.*470C>T (n.*470C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.49973820_49973833delCA2638666140DLX4n.1481_1494del
c.600_613del (p.Leu201GlyfsTer?)
c.384_397del (p.Leu129GlyfsTer?)
c.*470_*483del (n.*470_*483del)
 gnomAD v4
17g.49973821C>ACA400168453DLX4n.1482C>A
c.601C>A (p.Leu201Ile)
c.385C>A (p.Leu129Ile)
c.*471C>A (n.*471C>A)
17g.49973821C=CA2263813854DLX4n.1482C=
c.601C= (p.Leu201=)
c.385C= (p.Leu129=)
c.*471C= (n.*471C=)
17g.49973821C>GCA400168454DLX4n.1482C>G
c.601C>G (p.Leu201Val)
c.385C>G (p.Leu129Val)
c.*471C>G (n.*471C>G)
17g.49973821C>TCA400168456DLX4n.1482C>T
c.601C>T (p.Leu201Phe)
c.385C>T (p.Leu129Phe)
c.*471C>T (n.*471C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.49973822T>ACA8640881DLX4n.1483T>A
c.602T>A (p.Leu201His)
c.386T>A (p.Leu129His)
c.*472T>A (n.*472T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.49973822T>CCA400168459DLX4n.1483T>C
c.602T>C (p.Leu201Pro)
c.386T>C (p.Leu129Pro)
c.*472T>C (n.*472T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.49973822T>GCA400168460DLX4n.1483T>G
c.602T>G (p.Leu201Arg)
c.386T>G (p.Leu129Arg)
c.*472T>G (n.*472T>G)
 gnomAD v4
17g.49973822T=CA2263813855DLX4n.1483T=
c.602T= (p.Leu201=)
c.386T= (p.Leu129=)
c.*472T= (n.*472T=)
17g.49973823C>ACA500989090DLX4n.1484C>A
c.603C>A (p.Leu201=)
c.387C>A (p.Leu129=)
c.*473C>A (n.*473C>A)
 gnomAD v4
17g.49973823C=CA2263813856DLX4n.1484C=
c.603C= (p.Leu201=)
c.387C= (p.Leu129=)
c.*473C= (n.*473C=)
17g.49973823C>GCA500989092DLX4n.1484C>G
c.603C>G (p.Leu201=)
c.387C>G (p.Leu129=)
c.*473C>G (n.*473C>G)
17g.49973823C>TCA500989093DLX4n.1484C>T
c.603C>T (p.Leu201=)
c.387C>T (p.Leu129=)
c.*473C>T (n.*473C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.49973824C>ACA400168463DLX4n.1485C>A
c.604C>A (p.Pro202Thr)
c.388C>A (p.Pro130Thr)
c.*474C>A (n.*474C>A)
17g.49973824C=CA2263813857DLX4n.1485C=
c.604C= (p.Pro202=)
c.388C= (p.Pro130=)
c.*474C= (n.*474C=)
17g.49973824C>GCA400168465DLX4n.1485C>G
c.604C>G (p.Pro202Ala)
c.388C>G (p.Pro130Ala)
c.*474C>G (n.*474C>G)
17g.49973824C>TCA8640882DLX4n.1485C>T
c.604C>T (p.Pro202Ser)
c.388C>T (p.Pro130Ser)
c.*474C>T (n.*474C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.49973825C>ACA400168469DLX4n.1486C>A
c.605C>A (p.Pro202His)
c.389C>A (p.Pro130His)
c.*475C>A (n.*475C>A)
17g.49973825C=CA2263813858DLX4n.1486C=
c.605C= (p.Pro202=)
c.389C= (p.Pro130=)
c.*475C= (n.*475C=)
17g.49973825C>GCA400168471DLX4n.1486C>G
c.605C>G (p.Pro202Arg)
c.389C>G (p.Pro130Arg)
c.*475C>G (n.*475C>G)
17g.49973825C>TCA400168472DLX4n.1486C>T
c.605C>T (p.Pro202Leu)
c.389C>T (p.Pro130Leu)
c.*475C>T (n.*475C>T)
 dbSNP COSMIC
17g.49973826C>ACA500989094DLX4n.1487C>A
c.606C>A (p.Pro202=)
c.390C>A (p.Pro130=)
c.*476C>A (n.*476C>A)
 dbSNP
17g.49973826C=CA2263813859DLX4n.1487C=
c.606C= (p.Pro202=)
c.390C= (p.Pro130=)
c.*476C= (n.*476C=)
17g.49973826C>GCA500989095DLX4n.1487C>G
c.606C>G (p.Pro202=)
c.390C>G (p.Pro130=)
c.*476C>G (n.*476C>G)
17g.49973826C>TCA500989096DLX4n.1487C>T
c.606C>T (p.Pro202=)
c.390C>T (p.Pro130=)
c.*476C>T (n.*476C>T)
 gnomAD v4
17g.49973826_49973827insACCCACCA2809765333DLX4n.1487_1488insACCCAC
c.606_607insACCCAC (p.Pro202_Ser203insThrHis)
c.390_391insACCCAC (p.Pro130_Ser131insThrHis)
c.*476_*477insACCCAC (n.*476_*477insACCCAC)
17g.49973827T>ACA291490593DLX4n.1488T>A
c.607T>A (p.Ser203Thr)
c.391T>A (p.Ser131Thr)
c.*477T>A (n.*477T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.49973827T>CCA8640883DLX4n.1488T>C
c.607T>C (p.Ser203Pro)
c.391T>C (p.Ser131Pro)
c.*477T>C (n.*477T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.49973827T>GCA400168474DLX4n.1488T>G
c.607T>G (p.Ser203Ala)
c.391T>G (p.Ser131Ala)
c.*477T>G (n.*477T>G)
 gnomAD v4
17g.49973827T=CA2263813860DLX4n.1488T=
c.607T= (p.Ser203=)
c.391T= (p.Ser131=)
c.*477T= (n.*477T=)
17g.49973828C>ACA400168477DLX4n.1489C>A
c.608C>A (p.Ser203Tyr)
c.392C>A (p.Ser131Tyr)
c.*478C>A (n.*478C>A)
 gnomAD v4
17g.49973828C=CA2263813861DLX4n.1489C=
c.608C= (p.Ser203=)
c.392C= (p.Ser131=)
c.*478C= (n.*478C=)
17g.49973828C>GCA400168478DLX4n.1489C>G
c.608C>G (p.Ser203Cys)
c.392C>G (p.Ser131Cys)
c.*478C>G (n.*478C>G)
17g.49973828C>TCA8640884DLX4n.1489C>T
c.608C>T (p.Ser203Phe)
c.392C>T (p.Ser131Phe)
c.*478C>T (n.*478C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.49973829C>ACA500989097DLX4n.1490C>A
c.609C>A (p.Ser203=)
c.393C>A (p.Ser131=)
c.*479C>A (n.*479C>A)
17g.49973829C>GCA500989099DLX4n.1490C>G
c.609C>G (p.Ser203=)
c.393C>G (p.Ser131=)
c.*479C>G (n.*479C>G)
17g.49973829C>TCA500989098DLX4n.1490C>T
c.609C>T (p.Ser203=)
c.393C>T (p.Ser131=)
c.*479C>T (n.*479C>T)
 COSMIC COSMIC
17g.49973830C>ACA400168483DLX4n.1491C>A
c.610C>A (p.Leu204Ile)
c.394C>A (p.Leu132Ile)
c.*480C>A (n.*480C>A)
17g.49973830C>GCA400168484DLX4n.1491C>G
c.610C>G (p.Leu204Val)
c.394C>G (p.Leu132Val)
c.*480C>G (n.*480C>G)
17g.49973830C>TCA400168481DLX4n.1491C>T
c.610C>T (p.Leu204Phe)
c.394C>T (p.Leu132Phe)
c.*480C>T (n.*480C>T)
 gnomAD v4
17g.49973831T>ACA400168487DLX4n.1492T>A
c.611T>A (p.Leu204His)
c.395T>A (p.Leu132His)
c.*481T>A (n.*481T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.49973831T>CCA400168488DLX4n.1492T>C
c.611T>C (p.Leu204Pro)
c.395T>C (p.Leu132Pro)
c.*481T>C (n.*481T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.49973831T>GCA400168490DLX4n.1492T>G
c.611T>G (p.Leu204Arg)
c.395T>G (p.Leu132Arg)
c.*481T>G (n.*481T>G)
 gnomAD v4
17g.49973831T=CA2263813862DLX4n.1492T=
c.611T= (p.Leu204=)
c.395T= (p.Leu132=)
c.*481T= (n.*481T=)
17g.49973831_49973833delinsACACA891863077DLX4n.1492_1494delinsACA
c.611_613delinsACA (p.Leu204_Trp205delinsHisArg)
c.395_397delinsACA (p.Leu132_Trp133delinsHisArg)
c.*481_*483delinsACA (n.*481_*483delinsACA)
 ClinVar dbSNP
17g.49973831_49973833delinsTCTCA2263813863DLX4n.1492_1494delinsTCT
c.611_613delinsTCT (p.Leu204=)
c.395_397delinsTCT (p.Leu132=)
c.*481_*483delinsTCT (n.*481_*483delinsTCT)
17g.49973832C>ACA500989101DLX4n.1493C>A
c.612C>A (p.Leu204=)
c.396C>A (p.Leu132=)
c.*482C>A (n.*482C>A)
17g.49973832C>GCA500989102DLX4n.1493C>G
c.612C>G (p.Leu204=)
c.396C>G (p.Leu132=)
c.*482C>G (n.*482C>G)
17g.49973832C>TCA500989103DLX4n.1493C>T
c.612C>T (p.Leu204=)
c.396C>T (p.Leu132=)
c.*482C>T (n.*482C>T)
17g.49973832_49973833delinsCTCA2263813864DLX4n.1493_1494delinsCT
c.612_613delinsCT (p.Leu204=)
c.396_397delinsCT (p.Leu132=)
c.*482_*483delinsCT (n.*482_*483delinsCT)
17g.49973833delCA2263813865DLX4n.1494del
c.613del (p.Trp205GlyfsTer?)
c.397del (p.Trp133GlyfsTer?)
c.*483del (n.*483del)
 dbSNP
17g.49973833T>ACA400168492DLX4n.1494T>A
c.613T>A (p.Trp205Arg)
c.397T>A (p.Trp133Arg)
c.*483T>A (n.*483T>A)
 dbSNP gnomAD v3 gnomAD v4
17g.49973833T>CCA400168494DLX4n.1494T>C
c.613T>C (p.Trp205Arg)
c.397T>C (p.Trp133Arg)
c.*483T>C (n.*483T>C)
17g.49973833T>GCA400168496DLX4n.1494T>G
c.613T>G (p.Trp205Gly)
c.397T>G (p.Trp133Gly)
c.*483T>G (n.*483T>G)
 gnomAD v4
17g.49973833T=CA2263813866DLX4n.1494T=
c.613T= (p.Trp205=)
c.397T= (p.Trp133=)
c.*483T= (n.*483T=)
17g.49973834G>ACA400168498DLX4n.1495G>A
c.614G>A (p.Trp205Ter)
c.398G>A (p.Trp133Ter)
c.*484G>A (n.*484G>A)
17g.49973834G>CCA400168500DLX4n.1495G>C
c.614G>C (p.Trp205Ser)
c.398G>C (p.Trp133Ser)
c.*484G>C (n.*484G>C)
17g.49973834G>TCA400168502DLX4n.1495G>T
c.614G>T (p.Trp205Leu)
c.398G>T (p.Trp133Leu)
c.*484G>T (n.*484G>T)
 gnomAD v4
17g.49973836delCA2638666141DLX4n.1497del
c.616del (p.Asp206IlefsTer?)
c.400del (p.Asp134IlefsTer?)
c.*486del (n.*486del)
 gnomAD v4
17g.49973835G>ACA400168505DLX4n.1496G>A
c.615G>A (p.Trp205Ter)
c.399G>A (p.Trp133Ter)
c.*485G>A (n.*485G>A)
 gnomAD v4
17g.49973835G>CCA400168506DLX4n.1496G>C
c.615G>C (p.Trp205Cys)
c.399G>C (p.Trp133Cys)
c.*485G>C (n.*485G>C)
17g.49973835G>TCA400168508DLX4n.1496G>T
c.615G>T (p.Trp205Cys)
c.399G>T (p.Trp133Cys)
c.*485G>T (n.*485G>T)
17g.49973836G>ACA8640885DLX4n.1497G>A
c.616G>A (p.Asp206Asn)
c.400G>A (p.Asp134Asn)
c.*486G>A (n.*486G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.49973836G>CCA400168512DLX4n.1497G>C
c.616G>C (p.Asp206His)
c.400G>C (p.Asp134His)
c.*486G>C (n.*486G>C)
17g.49973836G=CA2263813867DLX4n.1497G=
c.616G= (p.Asp206=)
c.400G= (p.Asp134=)
c.*486G= (n.*486G=)
17g.49973836G>TCA400168511DLX4n.1497G>T
c.616G>T (p.Asp206Tyr)
c.400G>T (p.Asp134Tyr)
c.*486G>T (n.*486G>T)
 gnomAD v4
17g.49973837A>CCA400168516DLX4n.1498A>C
c.617A>C (p.Asp206Ala)
c.401A>C (p.Asp134Ala)
c.*487A>C (n.*487A>C)
 dbSNP gnomAD v4
17g.49973837A>GCA400168518DLX4n.1498A>G
c.617A>G (p.Asp206Gly)
c.401A>G (p.Asp134Gly)
c.*487A>G (n.*487A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.49973837A>TCA400168520DLX4n.1498A>T
c.617A>T (p.Asp206Val)
c.401A>T (p.Asp134Val)
c.*487A>T (n.*487A>T)
 gnomAD v4
17g.49973838T>ACA400168522DLX4n.1499T>A
c.618T>A (p.Asp206Glu)
c.402T>A (p.Asp134Glu)
c.*488T>A (n.*488T>A)
 gnomAD v3 gnomAD v4
17g.49973838T>CCA291490630DLX4n.1499T>C
c.618T>C (p.Asp206=)
c.402T>C (p.Asp134=)
c.*488T>C (n.*488T>C)
 dbSNP
17g.49973838T>GCA400168525DLX4n.1499T>G
c.618T>G (p.Asp206Glu)
c.402T>G (p.Asp134Glu)
c.*488T>G (n.*488T>G)
17g.49973838T=CA2263813868DLX4n.1499T=
c.618T= (p.Asp206=)
c.402T= (p.Asp134=)
c.*488T= (n.*488T=)
17g.49973839C>ACA400168526DLX4n.1500C>A
c.619C>A (p.Leu207Ile)
c.403C>A (p.Leu135Ile)
c.*489C>A (n.*489C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.49973839C=CA2263813869DLX4n.1500C=
c.619C= (p.Leu207=)
c.403C= (p.Leu135=)
c.*489C= (n.*489C=)
17g.49973839C>GCA400168527DLX4n.1500C>G
c.619C>G (p.Leu207Val)
c.403C>G (p.Leu135Val)
c.*489C>G (n.*489C>G)
 gnomAD v4
17g.49973839C>TCA500989104DLX4n.1500C>T
c.619C>T (p.Leu207=)
c.403C>T (p.Leu135=)
c.*489C>T (n.*489C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.49973840T>ACA400168530DLX4n.1501T>A
c.620T>A (p.Leu207Gln)
c.404T>A (p.Leu135Gln)
c.*490T>A (n.*490T>A)
 gnomAD v3 gnomAD v4
17g.49973840T>CCA8640886DLX4n.1501T>C
c.620T>C (p.Leu207Pro)
c.404T>C (p.Leu135Pro)
c.*490T>C (n.*490T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.49973840T>GCA400168532DLX4n.1501T>G
c.620T>G (p.Leu207Arg)
c.404T>G (p.Leu135Arg)
c.*490T>G (n.*490T>G)
 gnomAD v4
17g.49973840T=CA2263813871DLX4n.1501T=
c.620T= (p.Leu207=)
c.404T= (p.Leu135=)
c.*490T= (n.*490T=)
17g.49973840_49973849delinsTACCCAAGGCCA2263813870DLX4n.1501_1510delinsTACCCAAGGC
c.620_629delinsTACCCAAGGC (p.Leu207=)
c.404_413delinsTACCCAAGGC (p.Leu135=)
c.*490_*499delinsTACCCAAGGC (n.*490_*499delinsTACCCAAGGC)
17g.49973841A>CCA500989105DLX4n.1502A>C
c.621A>C (p.Leu207=)
c.405A>C (p.Leu135=)
c.*491A>C (n.*491A>C)
17g.49973841A>GCA500989106DLX4n.1502A>G
c.621A>G (p.Leu207=)
c.405A>G (p.Leu135=)
c.*491A>G (n.*491A>G)
 gnomAD v4
17g.49973841A>TCA500989107DLX4n.1502A>T
c.621A>T (p.Leu207=)
c.405A>T (p.Leu135=)
c.*491A>T (n.*491A>T)
17g.49973842_49973850delCA626688456DLX4n.1503_1511del
c.622_630del (p.Pro208_Ala210del)
c.406_414del (p.Pro136_Ala138del)
c.*492_*500del (n.*492_*500del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.49973842C>ACA400168534DLX4n.1503C>A
c.622C>A (p.Pro208Thr)
c.406C>A (p.Pro136Thr)
c.*492C>A (n.*492C>A)
 gnomAD v3 gnomAD v4
17g.49973842C>GCA400168535DLX4n.1503C>G
c.622C>G (p.Pro208Ala)
c.406C>G (p.Pro136Ala)
c.*492C>G (n.*492C>G)
17g.49973842C>TCA400168537DLX4n.1503C>T
c.622C>T (p.Pro208Ser)
c.406C>T (p.Pro136Ser)
c.*492C>T (n.*492C>T)
17g.49973843C>ACA8640887DLX4n.1504C>A
c.623C>A (p.Pro208His)
c.407C>A (p.Pro136His)
c.*493C>A (n.*493C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.49973843C=CA2263813872DLX4n.1504C=
c.623C= (p.Pro208=)
c.407C= (p.Pro136=)
c.*493C= (n.*493C=)
17g.49973843C>GCA400168542DLX4n.1504C>G
c.623C>G (p.Pro208Arg)
c.407C>G (p.Pro136Arg)
c.*493C>G (n.*493C>G)
17g.49973843C>TCA400168540DLX4n.1504C>T
c.623C>T (p.Pro208Leu)
c.407C>T (p.Pro136Leu)
c.*493C>T (n.*493C>T)
17g.49973844C>ACA500989108DLX4n.1505C>A
c.624C>A (p.Pro208=)
c.408C>A (p.Pro136=)
c.*494C>A (n.*494C>A)
17g.49973844C>GCA500989109DLX4n.1505C>G
c.624C>G (p.Pro208=)
c.408C>G (p.Pro136=)
c.*494C>G (n.*494C>G)
 gnomAD v4
17g.49973844C>TCA500989110DLX4n.1505C>T
c.624C>T (p.Pro208=)
c.408C>T (p.Pro136=)
c.*494C>T (n.*494C>T)
17g.49973845A>CCA400168545DLX4n.1506A>C
c.625A>C (p.Lys209Gln)
c.409A>C (p.Lys137Gln)
c.*495A>C (n.*495A>C)
 gnomAD v4
17g.49973845A>GCA400168546DLX4n.1506A>G
c.625A>G (p.Lys209Glu)
c.409A>G (p.Lys137Glu)
c.*495A>G (n.*495A>G)
 gnomAD v4
17g.49973845A>TCA400168548DLX4n.1506A>T
c.625A>T (p.Lys209Ter)
c.409A>T (p.Lys137Ter)
c.*495A>T (n.*495A>T)
17g.49973846A>CCA400168550DLX4n.1507A>C
c.626A>C (p.Lys209Thr)
c.410A>C (p.Lys137Thr)
c.*496A>C (n.*496A>C)
17g.49973846A>GCA400168552DLX4n.1507A>G
c.626A>G (p.Lys209Arg)
c.410A>G (p.Lys137Arg)
c.*496A>G (n.*496A>G)
17g.49973846A>TCA400168553DLX4n.1507A>T
c.626A>T (p.Lys209Met)
c.410A>T (p.Lys137Met)
c.*496A>T (n.*496A>T)
17g.49973847G>ACA500989111DLX4n.1508G>A
c.627G>A (p.Lys209=)
c.411G>A (p.Lys137=)
c.*497G>A (n.*497G>A)
 dbSNP gnomAD v4
17g.49973847G>CCA400168556DLX4n.1508G>C
c.627G>C (p.Lys209Asn)
c.411G>C (p.Lys137Asn)
c.*497G>C (n.*497G>C)
 gnomAD v4
17g.49973847G=CA2263813873DLX4n.1508G=
c.627G= (p.Lys209=)
c.411G= (p.Lys137=)
c.*497G= (n.*497G=)
17g.49973847G>TCA400168555DLX4n.1508G>T
c.627G>T (p.Lys209Asn)
c.411G>T (p.Lys137Asn)
c.*497G>T (n.*497G>T)
 gnomAD v4
17g.49973847_49973854delinsGGCAGGGACA2263813874DLX4n.1508_1515delinsGGCAGGGA
c.627_634delinsGGCAGGGA (p.Lys209=)
c.411_418delinsGGCAGGGA (p.Lys137=)
c.*497_*504delinsGGCAGGGA (n.*497_*504delinsGGCAGGGA)
17g.49973848G>ACA400168559DLX4n.1509G>A
c.628G>A (p.Ala210Thr)
c.412G>A (p.Ala138Thr)
c.*498G>A (n.*498G>A)
17g.49973848G>CCA400168563DLX4n.1509G>C
c.628G>C (p.Ala210Pro)
c.412G>C (p.Ala138Pro)
c.*498G>C (n.*498G>C)
17g.49973848G>TCA400168565DLX4n.1509G>T
c.628G>T (p.Ala210Ser)
c.412G>T (p.Ala138Ser)
c.*498G>T (n.*498G>T)
17g.49973848_49973854delCA2263813875DLX4n.1509_1515del
c.628_634del (p.Ala210ProfsTer28)
c.412_418del (p.Ala138ProfsTer28)
c.*498_*504del (n.*498_*504del)
 dbSNP
17g.49973849C>ACA8640889DLX4n.1510C>A
c.629C>A (p.Ala210Glu)
c.413C>A (p.Ala138Glu)
c.*499C>A (n.*499C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.49973849C=CA2263813876DLX4n.1510C=
c.629C= (p.Ala210=)
c.413C= (p.Ala138=)
c.*499C= (n.*499C=)
17g.49973849C>GCA400168569DLX4n.1510C>G
c.629C>G (p.Ala210Gly)
c.413C>G (p.Ala138Gly)
c.*499C>G (n.*499C>G)
17g.49973849C>TCA8640888DLX4n.1510C>T
c.629C>T (p.Ala210Val)
c.413C>T (p.Ala138Val)
c.*499C>T (n.*499C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.49973850A>CCA500989112DLX4n.1511A>C
c.630A>C (p.Ala210=)
c.414A>C (p.Ala138=)
c.*500A>C (n.*500A>C)
17g.49973850A>GCA500989113DLX4n.1511A>G
c.630A>G (p.Ala210=)
c.414A>G (p.Ala138=)
c.*500A>G (n.*500A>G)
17g.49973850A>TCA500989114DLX4n.1511A>T
c.630A>T (p.Ala210=)
c.414A>T (p.Ala138=)
c.*500A>T (n.*500A>T)
17g.49973851G>ACA400168573DLX4n.1512G>A
c.631G>A (p.Gly211Arg)
c.415G>A (p.Gly139Arg)
c.*501G>A (n.*501G>A)
17g.49973851G>CCA400168576DLX4n.1512G>C
c.631G>C (p.Gly211Arg)
c.415G>C (p.Gly139Arg)
c.*501G>C (n.*501G>C)
17g.49973851G>TCA400168574DLX4n.1512G>T
c.631G>T (p.Gly211Trp)
c.415G>T (p.Gly139Trp)
c.*501G>T (n.*501G>T)
 gnomAD v4
17g.49973852G>ACA400168578DLX4n.1513G>A
c.632G>A (p.Gly211Glu)
c.416G>A (p.Gly139Glu)
c.*502G>A (n.*502G>A)
17g.49973852G>CCA400168580DLX4n.1513G>C
c.632G>C (p.Gly211Ala)
c.416G>C (p.Gly139Ala)
c.*502G>C (n.*502G>C)
 dbSNP
17g.49973852G=CA2263813877DLX4n.1513G=
c.632G= (p.Gly211=)
c.416G= (p.Gly139=)
c.*502G= (n.*502G=)
17g.49973852G>TCA400168582DLX4n.1513G>T
c.632G>T (p.Gly211Val)
c.416G>T (p.Gly139Val)
c.*502G>T (n.*502G>T)
 dbSNP gnomAD v2
17g.49973853G>ACA500988978DLX4n.1514G>A
c.633G>A (p.Gly211=)
c.417G>A (p.Gly139=)
c.*503G>A (n.*503G>A)
17g.49973853G>CCA500988980DLX4n.1514G>C
c.633G>C (p.Gly211=)
c.417G>C (p.Gly139=)
c.*503G>C (n.*503G>C)
17g.49973853G>TCA500988981DLX4n.1514G>T
c.633G>T (p.Gly211=)
c.417G>T (p.Gly139=)
c.*503G>T (n.*503G>T)
 gnomAD v4
17g.49973854A=CA2263813878DLX4n.1515A=
c.634A= (p.Thr212=)
c.418A= (p.Thr140=)
c.*504A= (n.*504A=)
17g.49973854A>CCA400168583DLX4n.1515A>C
c.634A>C (p.Thr212Pro)
c.418A>C (p.Thr140Pro)
c.*504A>C (n.*504A>C)
 dbSNP
17g.49973854A>GCA400168584DLX4n.1515A>G
c.634A>G (p.Thr212Ala)
c.418A>G (p.Thr140Ala)
c.*504A>G (n.*504A>G)
17g.49973854A>TCA400168586DLX4n.1515A>T
c.634A>T (p.Thr212Ser)
c.418A>T (p.Thr140Ser)
c.*504A>T (n.*504A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.49973855C>ACA400168588DLX4n.1516C>A
c.635C>A (p.Thr212Asn)
c.419C>A (p.Thr140Asn)
c.*505C>A (n.*505C>A)
17g.49973855C>GCA400168589DLX4n.1516C>G
c.635C>G (p.Thr212Ser)
c.419C>G (p.Thr140Ser)
c.*505C>G (n.*505C>G)
17g.49973855C>TCA400168590DLX4n.1516C>T
c.635C>T (p.Thr212Ile)
c.419C>T (p.Thr140Ile)
c.*505C>T (n.*505C>T)
17g.49973856C>ACA500988984DLX4n.1517C>A
c.636C>A (p.Thr212=)
c.420C>A (p.Thr140=)
c.*506C>A (n.*506C>A)
17g.49973856C>GCA500988985DLX4n.1517C>G
c.636C>G (p.Thr212=)
c.420C>G (p.Thr140=)
c.*506C>G (n.*506C>G)
17g.49973856C>TCA500988986DLX4n.1517C>T
c.636C>T (p.Thr212=)
c.420C>T (p.Thr140=)
c.*506C>T (n.*506C>T)
 gnomAD v4
17g.49973857C>ACA400168592DLX4n.1518C>A
c.637C>A (p.Leu213Met)
c.421C>A (p.Leu141Met)
c.*507C>A (n.*507C>A)
 dbSNP
17g.49973857C=CA2263813879DLX4n.1518C=
c.637C= (p.Leu213=)
c.421C= (p.Leu141=)
c.*507C= (n.*507C=)
17g.49973857C>GCA400168594DLX4n.1518C>G
c.637C>G (p.Leu213Val)
c.421C>G (p.Leu141Val)
c.*507C>G (n.*507C>G)
17g.49973857C>TCA500988988DLX4n.1518C>T
c.637C>T (p.Leu213=)
c.421C>T (p.Leu141=)
c.*507C>T (n.*507C>T)
17g.49973858T>ACA400168599DLX4n.1519T>A
c.638T>A (p.Leu213Gln)
c.422T>A (p.Leu141Gln)
c.*508T>A (n.*508T>A)
 dbSNP gnomAD v3 gnomAD v4
17g.49973858T>CCA400168601DLX4n.1519T>C
c.638T>C (p.Leu213Pro)
c.422T>C (p.Leu141Pro)
c.*508T>C (n.*508T>C)
17g.49973858T>GCA400168597DLX4n.1519T>G
c.638T>G (p.Leu213Arg)
c.422T>G (p.Leu141Arg)
c.*508T>G (n.*508T>G)
17g.49973859G>ACA500988990DLX4n.1520G>A
c.639G>A (p.Leu213=)
c.423G>A (p.Leu141=)
c.*509G>A (n.*509G>A)
17g.49973859G>CCA500988994DLX4n.1520G>C
c.639G>C (p.Leu213=)
c.423G>C (p.Leu141=)
c.*509G>C (n.*509G>C)
17g.49973859G>TCA500988992DLX4n.1520G>T
c.639G>T (p.Leu213=)
c.423G>T (p.Leu141=)
c.*509G>T (n.*509G>T)
 gnomAD v3 gnomAD v4
17g.49973860C>ACA400168604DLX4n.1521C>A
c.640C>A (p.Pro214Thr)
c.424C>A (p.Pro142Thr)
c.*510C>A (n.*510C>A)
17g.49973860C>GCA400168603DLX4n.1521C>G
c.640C>G (p.Pro214Ala)
c.424C>G (p.Pro142Ala)
c.*510C>G (n.*510C>G)
17g.49973860C>TCA400168606DLX4n.1521C>T
c.640C>T (p.Pro214Ser)
c.424C>T (p.Pro142Ser)
c.*510C>T (n.*510C>T)
17g.49973861C>ACA400168608DLX4n.1522C>A
c.641C>A (p.Pro214His)
c.425C>A (p.Pro142His)
c.*511C>A (n.*511C>A)
17g.49973861C>GCA400168609DLX4n.1522C>G
c.641C>G (p.Pro214Arg)
c.425C>G (p.Pro142Arg)
c.*511C>G (n.*511C>G)
17g.49973861C>TCA400168611DLX4n.1522C>T
c.641C>T (p.Pro214Leu)
c.425C>T (p.Pro142Leu)
c.*511C>T (n.*511C>T)
17g.49973862C>ACA500988996DLX4n.1523C>A
c.642C>A (p.Pro214=)
c.426C>A (p.Pro142=)
c.*512C>A (n.*512C>A)
17g.49973862C>GCA500988997DLX4n.1523C>G
c.642C>G (p.Pro214=)
c.426C>G (p.Pro142=)
c.*512C>G (n.*512C>G)
17g.49973862C>TCA500988998DLX4n.1523C>T
c.642C>T (p.Pro214=)
c.426C>T (p.Pro142=)
c.*512C>T (n.*512C>T)
17g.49973863A>CCA400168613DLX4n.1524A>C
c.643A>C (p.Thr215Pro)
c.427A>C (p.Thr143Pro)
c.*513A>C (n.*513A>C)
 gnomAD v3 gnomAD v4
17g.49973863A>GCA400168615DLX4n.1524A>G
c.643A>G (p.Thr215Ala)
c.427A>G (p.Thr143Ala)
c.*513A>G (n.*513A>G)
17g.49973863A>TCA400168616DLX4n.1524A>T
c.643A>T (p.Thr215Ser)
c.427A>T (p.Thr143Ser)
c.*513A>T (n.*513A>T)
17g.49973864C>ACA400168618DLX4n.1525C>A
c.644C>A (p.Thr215Asn)
c.428C>A (p.Thr143Asn)
c.*514C>A (n.*514C>A)
17g.49973864C=CA2263813880DLX4n.1525C=
c.644C= (p.Thr215=)
c.428C= (p.Thr143=)
c.*514C= (n.*514C=)
17g.49973864C>GCA400168620DLX4n.1525C>G
c.644C>G (p.Thr215Ser)
c.428C>G (p.Thr143Ser)
c.*514C>G (n.*514C>G)
17g.49973864C>TCA400168622DLX4n.1525C>T
c.644C>T (p.Thr215Ile)
c.428C>T (p.Thr143Ile)
c.*514C>T (n.*514C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.49973865C>ACA500989000DLX4n.1526C>A
c.645C>A (p.Thr215=)
c.429C>A (p.Thr143=)
c.*515C>A (n.*515C>A)
17g.49973865C=CA2263813881DLX4n.1526C=
c.645C= (p.Thr215=)
c.429C= (p.Thr143=)
c.*515C= (n.*515C=)
17g.49973865C>GCA500989001DLX4n.1526C>G
c.645C>G (p.Thr215=)
c.429C>G (p.Thr143=)
c.*515C>G (n.*515C>G)
17g.49973865C>TCA500989002DLX4n.1526C>T
c.645C>T (p.Thr215=)
c.429C>T (p.Thr143=)
c.*515C>T (n.*515C>T)
 dbSNP gnomAD v4
17g.49973866A>CCA400168623DLX4n.1527A>C
c.646A>C (p.Ser216Arg)
c.430A>C (p.Ser144Arg)
c.*516A>C (n.*516A>C)
 gnomAD v4
17g.49973866A>GCA400168625DLX4n.1527A>G
c.646A>G (p.Ser216Gly)
c.430A>G (p.Ser144Gly)
c.*516A>G (n.*516A>G)
17g.49973866A>TCA400168627DLX4n.1527A>T
c.646A>T (p.Ser216Cys)
c.430A>T (p.Ser144Cys)
c.*516A>T (n.*516A>T)
17g.49973867G>ACA400168631DLX4n.1528G>A
c.647G>A (p.Ser216Asn)
c.431G>A (p.Ser144Asn)
c.*517G>A (n.*517G>A)
17g.49973867G>CCA400168633DLX4n.1528G>C
c.647G>C (p.Ser216Thr)
c.431G>C (p.Ser144Thr)
c.*517G>C (n.*517G>C)
 gnomAD v3 gnomAD v4
17g.49973867G>TCA400168629DLX4n.1528G>T
c.647G>T (p.Ser216Ile)
c.431G>T (p.Ser144Ile)
c.*517G>T (n.*517G>T)
17g.49973868T>ACA400168635DLX4n.1529T>A
c.648T>A (p.Ser216Arg)
c.432T>A (p.Ser144Arg)
c.*518T>A (n.*518T>A)
17g.49973868T>CCA500989003DLX4n.1529T>C
c.648T>C (p.Ser216=)
c.432T>C (p.Ser144=)
c.*518T>C (n.*518T>C)
17g.49973868T>GCA400168637DLX4n.1529T>G
c.648T>G (p.Ser216Arg)
c.432T>G (p.Ser144Arg)
c.*518T>G (n.*518T>G)
17g.49973869G>ACA400168640DLX4n.1530G>A
c.649G>A (p.Gly217Ser)
c.433G>A (p.Gly145Ser)
c.*519G>A (n.*519G>A)
 gnomAD v4
17g.49973869G>CCA400168641DLX4n.1530G>C
c.649G>C (p.Gly217Arg)
c.433G>C (p.Gly145Arg)
c.*519G>C (n.*519G>C)
17g.49973869G>TCA400168643DLX4n.1530G>T
c.649G>T (p.Gly217Cys)
c.433G>T (p.Gly145Cys)
c.*519G>T (n.*519G>T)
17g.49973870G>ACA400168649DLX4n.1531G>A
c.650G>A (p.Gly217Asp)
c.434G>A (p.Gly145Asp)
c.*520G>A (n.*520G>A)
17g.49973870G>CCA400168645DLX4n.1531G>C
c.650G>C (p.Gly217Ala)
c.434G>C (p.Gly145Ala)
c.*520G>C (n.*520G>C)
17g.49973870G>TCA400168647DLX4n.1531G>T
c.650G>T (p.Gly217Val)
c.434G>T (p.Gly145Val)
c.*520G>T (n.*520G>T)
 gnomAD v4
17g.49973871C>ACA500989005DLX4n.1532C>A
c.651C>A (p.Gly217=)
c.435C>A (p.Gly145=)
c.*521C>A (n.*521C>A)
17g.49973871C>GCA500989009DLX4n.1532C>G
c.651C>G (p.Gly217=)
c.435C>G (p.Gly145=)
c.*521C>G (n.*521C>G)
 gnomAD v4
17g.49973871C>TCA500989007DLX4n.1532C>T
c.651C>T (p.Gly217=)
c.435C>T (p.Gly145=)
c.*521C>T (n.*521C>T)
17g.49973872T>ACA400168652DLX4n.1533T>A
c.652T>A (p.Tyr218Asn)
c.436T>A (p.Tyr146Asn)
c.*522T>A (n.*522T>A)
17g.49973872T>CCA400168653DLX4n.1533T>C
c.652T>C (p.Tyr218His)
c.436T>C (p.Tyr146His)
c.*522T>C (n.*522T>C)
17g.49973872T>GCA400168655DLX4n.1533T>G
c.652T>G (p.Tyr218Asp)
c.436T>G (p.Tyr146Asp)
c.*522T>G (n.*522T>G)
17g.49973873A>CCA400168657DLX4n.1534A>C
c.653A>C (p.Tyr218Ser)
c.437A>C (p.Tyr146Ser)
c.*523A>C (n.*523A>C)
17g.49973873A>GCA400168659DLX4n.1534A>G
c.653A>G (p.Tyr218Cys)
c.437A>G (p.Tyr146Cys)
c.*523A>G (n.*523A>G)
 gnomAD v4
17g.49973873A>TCA400168660DLX4n.1534A>T
c.653A>T (p.Tyr218Phe)
c.437A>T (p.Tyr146Phe)
c.*523A>T (n.*523A>T)
17g.49973874T>ACA8640890DLX4n.1535T>A
c.654T>A (p.Tyr218Ter)
c.438T>A (p.Tyr146Ter)
c.*524T>A (n.*524T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.49973874T>CCA500989011DLX4n.1535T>C
c.654T>C (p.Tyr218=)
c.438T>C (p.Tyr146=)
c.*524T>C (n.*524T>C)
 dbSNP
17g.49973874T>GCA400168664DLX4n.1535T>G
c.654T>G (p.Tyr218Ter)
c.438T>G (p.Tyr146Ter)
c.*524T>G (n.*524T>G)
17g.49973874T=CA2263813882DLX4n.1535T=
c.654T= (p.Tyr218=)
c.438T= (p.Tyr146=)
c.*524T= (n.*524T=)
17g.49973875G>ACA400168666DLX4n.1536G>A
c.655G>A (p.Gly219Ser)
c.439G>A (p.Gly147Ser)
c.*525G>A (n.*525G>A)
17g.49973875G>CCA400168668DLX4n.1536G>C
c.655G>C (p.Gly219Arg)
c.439G>C (p.Gly147Arg)
c.*525G>C (n.*525G>C)
17g.49973875G>TCA400168669DLX4n.1536G>T
c.655G>T (p.Gly219Cys)
c.439G>T (p.Gly147Cys)
c.*525G>T (n.*525G>T)
17g.49973876G>ACA400168672DLX4n.1537G>A
c.656G>A (p.Gly219Asp)
c.440G>A (p.Gly147Asp)
c.*526G>A (n.*526G>A)
17g.49973876G>CCA400168674DLX4n.1537G>C
c.656G>C (p.Gly219Ala)
c.440G>C (p.Gly147Ala)
c.*526G>C (n.*526G>C)
17g.49973876G>TCA400168675DLX4n.1537G>T
c.656G>T (p.Gly219Val)
c.440G>T (p.Gly147Val)
c.*526G>T (n.*526G>T)
17g.49973877C>ACA500989015DLX4n.1538C>A
c.657C>A (p.Gly219=)
c.441C>A (p.Gly147=)
c.*527C>A (n.*527C>A)
17g.49973877C>GCA500989016DLX4n.1538C>G
c.657C>G (p.Gly219=)
c.441C>G (p.Gly147=)
c.*527C>G (n.*527C>G)
17g.49973877C>TCA500989017DLX4n.1538C>T
c.657C>T (p.Gly219=)
c.441C>T (p.Gly147=)
c.*527C>T (n.*527C>T)
17g.49973878A>CCA400168681DLX4n.1539A>C
c.658A>C (p.Asn220His)
c.442A>C (p.Asn148His)
c.*528A>C (n.*528A>C)
17g.49973878A>GCA400168678DLX4n.1539A>G
c.658A>G (p.Asn220Asp)
c.442A>G (p.Asn148Asp)
c.*528A>G (n.*528A>G)
17g.49973878A>TCA400168680DLX4n.1539A>T
c.658A>T (p.Asn220Tyr)
c.442A>T (p.Asn148Tyr)
c.*528A>T (n.*528A>T)
17g.49973879A>CCA400168684DLX4n.1540A>C
c.659A>C (p.Asn220Thr)
c.443A>C (p.Asn148Thr)
c.*529A>C (n.*529A>C)
17g.49973879A>GCA400168686DLX4n.1540A>G
c.659A>G (p.Asn220Ser)
c.443A>G (p.Asn148Ser)
c.*529A>G (n.*529A>G)
17g.49973879A>TCA400168687DLX4n.1540A>T
c.659A>T (p.Asn220Ile)
c.443A>T (p.Asn148Ile)
c.*529A>T (n.*529A>T)
17g.49973880C>ACA400168689DLX4n.1541C>A
c.660C>A (p.Asn220Lys)
c.444C>A (p.Asn148Lys)
c.*530C>A (n.*530C>A)
 dbSNP
17g.49973880C=CA2263813883DLX4n.1541C=
c.660C= (p.Asn220=)
c.444C= (p.Asn148=)
c.*530C= (n.*530C=)
17g.49973880C>GCA400168691DLX4n.1541C>G
c.660C>G (p.Asn220Lys)
c.444C>G (p.Asn148Lys)
c.*530C>G (n.*530C>G)
 COSMIC COSMIC
17g.49973880C>TCA500989019DLX4n.1541C>T
c.660C>T (p.Asn220=)
c.444C>T (p.Asn148=)
c.*530C>T (n.*530C>T)
17g.49973881A>CCA400168693DLX4n.1542A>C
c.661A>C (p.Ser221Arg)
c.445A>C (p.Ser149Arg)
c.*531A>C (n.*531A>C)
17g.49973881A>GCA400168697DLX4n.1542A>G
c.661A>G (p.Ser221Gly)
c.445A>G (p.Ser149Gly)
c.*531A>G (n.*531A>G)
17g.49973881A>TCA400168695DLX4n.1542A>T
c.661A>T (p.Ser221Cys)
c.445A>T (p.Ser149Cys)
c.*531A>T (n.*531A>T)
17g.49973882G>ACA400168699DLX4n.1543G>A
c.662G>A (p.Ser221Asn)
c.446G>A (p.Ser149Asn)
c.*532G>A (n.*532G>A)
17g.49973882G>CCA400168701DLX4n.1543G>C
c.662G>C (p.Ser221Thr)
c.446G>C (p.Ser149Thr)
c.*532G>C (n.*532G>C)
17g.49973882G>TCA400168703DLX4n.1543G>T
c.662G>T (p.Ser221Ile)
c.446G>T (p.Ser149Ile)
c.*532G>T (n.*532G>T)
17g.49973883C>ACA400168705DLX4n.1544C>A
c.663C>A (p.Ser221Arg)
c.447C>A (p.Ser149Arg)
c.*533C>A (n.*533C>A)
17g.49973883C=CA2263813884DLX4n.1544C=
c.663C= (p.Ser221=)
c.447C= (p.Ser149=)
c.*533C= (n.*533C=)
17g.49973883C>GCA400168707DLX4n.1544C>G
c.663C>G (p.Ser221Arg)
c.447C>G (p.Ser149Arg)
c.*533C>G (n.*533C>G)
17g.49973883C>TCA8640891DLX4n.1544C>T
c.663C>T (p.Ser221=)
c.447C>T (p.Ser149=)
c.*533C>T (n.*533C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.49973884T>ACA400168709DLX4n.1545T>A
c.664T>A (p.Phe222Ile)
c.448T>A (p.Phe150Ile)
c.*534T>A (n.*534T>A)
17g.49973884T>CCA8640892DLX4n.1545T>C
c.664T>C (p.Phe222Leu)
c.448T>C (p.Phe150Leu)
c.*534T>C (n.*534T>C)
 dbSNP ExAC gnomAD v2
17g.49973884T>GCA400168711DLX4n.1545T>G
c.664T>G (p.Phe222Val)
c.448T>G (p.Phe150Val)
c.*534T>G (n.*534T>G)
17g.49973884T=CA2263813885DLX4n.1545T=
c.664T= (p.Phe222=)
c.448T= (p.Phe150=)
c.*534T= (n.*534T=)
17g.49973885T>ACA400168714DLX4n.1546T>A
c.665T>A (p.Phe222Tyr)
c.449T>A (p.Phe150Tyr)
c.*535T>A (n.*535T>A)
17g.49973885T>CCA400168715DLX4n.1546T>C
c.665T>C (p.Phe222Ser)
c.449T>C (p.Phe150Ser)
c.*535T>C (n.*535T>C)
17g.49973885T>GCA400168716DLX4n.1546T>G
c.665T>G (p.Phe222Cys)
c.449T>G (p.Phe150Cys)
c.*535T>G (n.*535T>G)
 dbSNP
17g.49973885T=CA2263813886DLX4n.1546T=
c.665T= (p.Phe222=)
c.449T= (p.Phe150=)
c.*535T= (n.*535T=)
17g.49973886T>ACA400168718DLX4n.1547T>A
c.666T>A (p.Phe222Leu)
c.450T>A (p.Phe150Leu)
c.*536T>A (n.*536T>A)
17g.49973886T>CCA500989022DLX4n.1547T>C
c.666T>C (p.Phe222=)
c.450T>C (p.Phe150=)
c.*536T>C (n.*536T>C)
17g.49973886T>GCA400168720DLX4n.1547T>G
c.666T>G (p.Phe222Leu)
c.450T>G (p.Phe150Leu)
c.*536T>G (n.*536T>G)
17g.49973887G>ACA400168722DLX4n.1548G>A
c.667G>A (p.Gly223Arg)
c.451G>A (p.Gly151Arg)
c.*537G>A (n.*537G>A)
 dbSNP
17g.49973887G>CCA400168726DLX4n.1548G>C
c.667G>C (p.Gly223Arg)
c.451G>C (p.Gly151Arg)
c.*537G>C (n.*537G>C)
17g.49973887G=CA2263813887DLX4n.1548G=
c.667G= (p.Gly223=)
c.451G= (p.Gly151=)
c.*537G= (n.*537G=)
17g.49973887G>TCA400168724DLX4n.1548G>T
c.667G>T (p.Gly223Ter)
c.451G>T (p.Gly151Ter)
c.*537G>T (n.*537G>T)
17g.49973888G>ACA400168728DLX4n.1549G>A
c.668G>A (p.Gly223Glu)
c.452G>A (p.Gly151Glu)
c.*538G>A (n.*538G>A)
 gnomAD v4
17g.49973888G>CCA400168730DLX4n.1549G>C
c.668G>C (p.Gly223Ala)
c.452G>C (p.Gly151Ala)
c.*538G>C (n.*538G>C)
17g.49973888G>TCA400168731DLX4n.1549G>T
c.668G>T (p.Gly223Val)
c.452G>T (p.Gly151Val)
c.*538G>T (n.*538G>T)
17g.49973889A=CA2263813888DLX4n.1550A=
c.669A= (p.Gly223=)
c.453A= (p.Gly151=)
c.*539A= (n.*539A=)
17g.49973889A>CCA500989026DLX4n.1550A>C
c.669A>C (p.Gly223=)
c.453A>C (p.Gly151=)
c.*539A>C (n.*539A>C)
 gnomAD v4
17g.49973889A>GCA500989027DLX4n.1550A>G
c.669A>G (p.Gly223=)
c.453A>G (p.Gly151=)
c.*539A>G (n.*539A>G)
 dbSNP
17g.49973889A>TCA500989028DLX4n.1550A>T
c.669A>T (p.Gly223=)
c.453A>T (p.Gly151=)
c.*539A>T (n.*539A>T)
17g.49973890G>ACA400168732DLX4n.1551G>A
c.670G>A (p.Ala224Thr)
c.454G>A (p.Ala152Thr)
c.*540G>A (n.*540G>A)
 COSMIC
17g.49973890G>CCA291490676DLX4n.1551G>C
c.670G>C (p.Ala224Pro)
c.454G>C (p.Ala152Pro)
c.*540G>C (n.*540G>C)
 dbSNP
17g.49973890G=CA2263813889DLX4n.1551G=
c.670G= (p.Ala224=)
c.454G= (p.Ala152=)
c.*540G= (n.*540G=)
17g.49973890G>TCA400168734DLX4n.1551G>T
c.670G>T (p.Ala224Ser)
c.454G>T (p.Ala152Ser)
c.*540G>T (n.*540G>T)
17g.49973891C>ACA400168737DLX4n.1552C>A
c.671C>A (p.Ala224Asp)
c.455C>A (p.Ala152Asp)
c.*541C>A (n.*541C>A)
17g.49973891C=CA2263813890DLX4n.1552C=
c.671C= (p.Ala224=)
c.455C= (p.Ala152=)
c.*541C= (n.*541C=)
17g.49973891C>GCA400168738DLX4n.1552C>G
c.671C>G (p.Ala224Gly)
c.455C>G (p.Ala152Gly)
c.*541C>G (n.*541C>G)
 dbSNP
17g.49973891C>TCA400168739DLX4n.1552C>T
c.671C>T (p.Ala224Val)
c.455C>T (p.Ala152Val)
c.*541C>T (n.*541C>T)
17g.49973892C>ACA500989030DLX4n.1553C>A
c.672C>A (p.Ala224=)
c.456C>A (p.Ala152=)
c.*542C>A (n.*542C>A)
 gnomAD v4
17g.49973892C>GCA500989031DLX4n.1553C>G
c.672C>G (p.Ala224=)
c.456C>G (p.Ala152=)
c.*542C>G (n.*542C>G)
17g.49973892C>TCA500989032DLX4n.1553C>T
c.672C>T (p.Ala224=)
c.456C>T (p.Ala152=)
c.*542C>T (n.*542C>T)
17g.49973893T>ACA400168742DLX4n.1554T>A
c.673T>A (p.Trp225Arg)
c.457T>A (p.Trp153Arg)
c.*543T>A (n.*543T>A)
17g.49973893T>CCA400168743DLX4n.1554T>C
c.673T>C (p.Trp225Arg)
c.457T>C (p.Trp153Arg)
c.*543T>C (n.*543T>C)
 dbSNP
17g.49973893T>GCA400168745DLX4n.1554T>G
c.673T>G (p.Trp225Gly)
c.457T>G (p.Trp153Gly)
c.*543T>G (n.*543T>G)
17g.49973893T=CA2263813891DLX4n.1554T=
c.673T= (p.Trp225=)
c.457T= (p.Trp153=)
c.*543T= (n.*543T=)
17g.49973894G>ACA400168750DLX4n.1555G>A
c.674G>A (p.Trp225Ter)
c.458G>A (p.Trp153Ter)
c.*544G>A (n.*544G>A)
17g.49973894G>CCA400168747DLX4n.1555G>C
c.674G>C (p.Trp225Ser)
c.458G>C (p.Trp153Ser)
c.*544G>C (n.*544G>C)
 dbSNP gnomAD v3 gnomAD v4
17g.49973894G=CA2263813892DLX4n.1555G=
c.674G= (p.Trp225=)
c.458G= (p.Trp153=)
c.*544G= (n.*544G=)
17g.49973894G>TCA400168748DLX4n.1555G>T
c.674G>T (p.Trp225Leu)
c.458G>T (p.Trp153Leu)
c.*544G>T (n.*544G>T)
17g.49973895G>ACA400168752DLX4n.1556G>A
c.675G>A (p.Trp225Ter)
c.459G>A (p.Trp153Ter)
c.*545G>A (n.*545G>A)
17g.49973895G>CCA400168754DLX4n.1556G>C
c.675G>C (p.Trp225Cys)
c.459G>C (p.Trp153Cys)
c.*545G>C (n.*545G>C)
17g.49973895G>TCA400168755DLX4n.1556G>T
c.675G>T (p.Trp225Cys)
c.459G>T (p.Trp153Cys)
c.*545G>T (n.*545G>T)
 gnomAD v4
17g.49973896T>ACA400168757DLX4n.1557T>A
c.676T>A (p.Tyr226Asn)
c.460T>A (p.Tyr154Asn)
c.*546T>A (n.*546T>A)
17g.49973896T>CCA400168759DLX4n.1557T>C
c.676T>C (p.Tyr226His)
c.460T>C (p.Tyr154His)
c.*546T>C (n.*546T>C)
 COSMIC
17g.49973896T>GCA291490684DLX4n.1557T>G
c.676T>G (p.Tyr226Asp)
c.460T>G (p.Tyr154Asp)
c.*546T>G (n.*546T>G)
 dbSNP
17g.49973896T=CA2263813893DLX4n.1557T=
c.676T= (p.Tyr226=)
c.460T= (p.Tyr154=)
c.*546T= (n.*546T=)
17g.49973897A=CA2263813894DLX4n.1558A=
c.677A= (p.Tyr226=)
c.461A= (p.Tyr154=)
c.*547A= (n.*547A=)
17g.49973897A>CCA400168762DLX4n.1558A>C
c.677A>C (p.Tyr226Ser)
c.461A>C (p.Tyr154Ser)
c.*547A>C (n.*547A>C)
17g.49973897A>GCA291490698DLX4n.1558A>G
c.677A>G (p.Tyr226Cys)
c.461A>G (p.Tyr154Cys)
c.*547A>G (n.*547A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.49973897A>TCA400168765DLX4n.1558A>T
c.677A>T (p.Tyr226Phe)
c.461A>T (p.Tyr154Phe)
c.*547A>T (n.*547A>T)
17g.49973898T>ACA400168767DLX4n.1559T>A
c.678T>A (p.Tyr226Ter)
c.462T>A (p.Tyr154Ter)
c.*548T>A (n.*548T>A)
17g.49973898T>CCA500989036DLX4n.1559T>C
c.678T>C (p.Tyr226=)
c.462T>C (p.Tyr154=)
c.*548T>C (n.*548T>C)
17g.49973898T>GCA400168768DLX4n.1559T>G
c.678T>G (p.Tyr226Ter)
c.462T>G (p.Tyr154Ter)
c.*548T>G (n.*548T>G)
17g.49973899C>ACA400168771DLX4n.1560C>A
c.679C>A (p.Gln227Lys)
c.463C>A (p.Gln155Lys)
c.*549C>A (n.*549C>A)
17g.49973899C>GCA400168772DLX4n.1560C>G
c.679C>G (p.Gln227Glu)
c.463C>G (p.Gln155Glu)
c.*549C>G (n.*549C>G)
17g.49973899C>TCA400168770DLX4n.1560C>T
c.679C>T (p.Gln227Ter)
c.463C>T (p.Gln155Ter)
c.*549C>T (n.*549C>T)
17g.49973899_49973900delinsCACA2263813895DLX4n.1560_1561delinsCA
c.679_680delinsCA (p.Gln227=)
c.463_464delinsCA (p.Gln155=)
c.*549_*550delinsCA (n.*549_*550delinsCA)
17g.49973900delCA8640893DLX4n.1561del
c.680del (p.Gln227ArgfsTer13)
c.464del (p.Gln155ArgfsTer13)
c.*550del (n.*550del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.49973900A=CA2263813896DLX4n.1561A=
c.680A= (p.Gln227=)
c.464A= (p.Gln155=)
c.*550A= (n.*550A=)
17g.49973900A>CCA8640894DLX4n.1561A>C
c.680A>C (p.Gln227Pro)
c.464A>C (p.Gln155Pro)
c.*550A>C (n.*550A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.49973900A>GCA400168775DLX4n.1561A>G
c.680A>G (p.Gln227Arg)
c.464A>G (p.Gln155Arg)
c.*550A>G (n.*550A>G)
17g.49973900A>TCA400168776DLX4n.1561A>T
c.680A>T (p.Gln227Leu)
c.464A>T (p.Gln155Leu)
c.*550A>T (n.*550A>T)
17g.49973901G>ACA500989041DLX4n.1562G>A
c.681G>A (p.Gln227=)
c.465G>A (p.Gln155=)
c.*551G>A (n.*551G>A)
17g.49973901G>CCA400168779DLX4n.1562G>C
c.681G>C (p.Gln227His)
c.465G>C (p.Gln155His)
c.*551G>C (n.*551G>C)
17g.49973901G>TCA400168780DLX4n.1562G>T
c.681G>T (p.Gln227His)
c.465G>T (p.Gln155His)
c.*551G>T (n.*551G>T)
17g.49973902C>ACA400168786DLX4n.1563C>A
c.682C>A (p.His228Asn)
c.466C>A (p.His156Asn)
c.*552C>A (n.*552C>A)
17g.49973902C>GCA400168783DLX4n.1563C>G
c.682C>G (p.His228Asp)
c.466C>G (p.His156Asp)
c.*552C>G (n.*552C>G)
17g.49973902C>TCA400168785DLX4n.1563C>T
c.682C>T (p.His228Tyr)
c.466C>T (p.His156Tyr)
c.*552C>T (n.*552C>T)
17g.49973903A>CCA400168789DLX4n.1564A>C
c.683A>C (p.His228Pro)
c.467A>C (p.His156Pro)
c.*553A>C (n.*553A>C)
17g.49973903A>GCA400168791DLX4n.1564A>G
c.683A>G (p.His228Arg)
c.467A>G (p.His156Arg)
c.*553A>G (n.*553A>G)
17g.49973903A>TCA400168792DLX4n.1564A>T
c.683A>T (p.His228Leu)
c.467A>T (p.His156Leu)
c.*553A>T (n.*553A>T)
17g.49973904T>ACA400168795DLX4n.1565T>A
c.684T>A (p.His228Gln)
c.468T>A (p.His156Gln)
c.*554T>A (n.*554T>A)
17g.49973904T>CCA500989043DLX4n.1565T>C
c.684T>C (p.His228=)
c.468T>C (p.His156=)
c.*554T>C (n.*554T>C)
 gnomAD v4
17g.49973904T>GCA400168797DLX4n.1565T>G
c.684T>G (p.His228Gln)
c.468T>G (p.His156Gln)
c.*554T>G (n.*554T>G)
17g.49973905C>ACA400168799DLX4n.1566C>A
c.685C>A (p.His229Asn)
c.469C>A (p.His157Asn)
c.*555C>A (n.*555C>A)
17g.49973905C>GCA400168803DLX4n.1566C>G
c.685C>G (p.His229Asp)
c.469C>G (p.His157Asp)
c.*555C>G (n.*555C>G)
17g.49973905C>TCA400168801DLX4n.1566C>T
c.685C>T (p.His229Tyr)
c.469C>T (p.His157Tyr)
c.*555C>T (n.*555C>T)
 gnomAD v4

Number of alleles fetched