Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.20139749C>ACA410734159ZDHHC8c.414C>A (p.Asn138Lys)
c.384+114C>A (n.384+114C>A)
c.381C>A (p.Asn127Lys)
n.58-868C>A
22g.20139749C>GCA410734160ZDHHC8c.414C>G (p.Asn138Lys)
c.384+114C>G (n.384+114C>G)
c.381C>G (p.Asn127Lys)
n.58-868C>G
22g.20139749C>TCA513691333ZDHHC8c.414C>T (p.Asn138=)
c.384+114C>T (n.384+114C>T)
c.381C>T (p.Asn127=)
n.58-868C>T
 gnomAD v4
22g.20139750A>CCA410734161ZDHHC8c.415A>C (p.Asn139His)
c.384+115A>C (n.384+115A>C)
c.382A>C (p.Asn128His)
n.58-867A>C
22g.20139750A>GCA410734163ZDHHC8c.415A>G (p.Asn139Asp)
c.384+115A>G (n.384+115A>G)
c.382A>G (p.Asn128Asp)
n.58-867A>G
22g.20139750A>TCA410734162ZDHHC8c.415A>T (p.Asn139Tyr)
c.384+115A>T (n.384+115A>T)
c.382A>T (p.Asn128Tyr)
n.58-867A>T
22g.20139751A>CCA410734164ZDHHC8c.416A>C (p.Asn139Thr)
c.384+116A>C (n.384+116A>C)
c.383A>C (p.Asn128Thr)
n.58-866A>C
22g.20139751A>GCA410734165ZDHHC8c.416A>G (p.Asn139Ser)
c.384+116A>G (n.384+116A>G)
c.383A>G (p.Asn128Ser)
n.58-866A>G
22g.20139751A>TCA410734166ZDHHC8c.416A>T (p.Asn139Ile)
c.384+116A>T (n.384+116A>T)
c.383A>T (p.Asn128Ile)
n.58-866A>T
22g.20139752C>ACA410734167ZDHHC8c.417C>A (p.Asn139Lys)
c.384+117C>A (n.384+117C>A)
c.384C>A (p.Asn128Lys)
n.58-865C>A
22g.20139752C=CA2396214240ZDHHC8c.417C= (p.Asn139=)
c.384+117C= (n.384+117C=)
c.384C= (p.Asn128=)
n.58-865C=
22g.20139752C>GCA410734168ZDHHC8c.417C>G (p.Asn139Lys)
c.384+117C>G (n.384+117C>G)
c.384C>G (p.Asn128Lys)
n.58-865C>G
22g.20139752C>TCA10108567ZDHHC8c.417C>T (p.Asn139=)
c.384+117C>T (n.384+117C>T)
c.384C>T (p.Asn128=)
n.58-865C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139753T>ACA410734169ZDHHC8c.418T>A (p.Cys140Ser)
c.384+118T>A (n.384+118T>A)
c.385T>A (p.Cys129Ser)
n.58-864T>A
22g.20139753T>CCA410734170ZDHHC8c.418T>C (p.Cys140Arg)
c.384+118T>C (n.384+118T>C)
c.385T>C (p.Cys129Arg)
n.58-864T>C
22g.20139753T>GCA410734171ZDHHC8c.418T>G (p.Cys140Gly)
c.384+118T>G (n.384+118T>G)
c.385T>G (p.Cys129Gly)
n.58-864T>G
 gnomAD v4
22g.20139754G>ACA410734172ZDHHC8c.419G>A (p.Cys140Tyr)
c.384+119G>A (n.384+119G>A)
c.386G>A (p.Cys129Tyr)
n.58-863G>A
 gnomAD v4
22g.20139754G>CCA410734173ZDHHC8c.419G>C (p.Cys140Ser)
c.384+119G>C (n.384+119G>C)
c.386G>C (p.Cys129Ser)
n.58-863G>C
22g.20139754G>TCA410734174ZDHHC8c.419G>T (p.Cys140Phe)
c.384+119G>T (n.384+119G>T)
c.386G>T (p.Cys129Phe)
n.58-863G>T
22g.20139755C>ACA410734176ZDHHC8c.420C>A (p.Cys140Ter)
c.384+120C>A (n.384+120C>A)
c.387C>A (p.Cys129Ter)
n.58-862C>A
22g.20139755C>GCA410734175ZDHHC8c.420C>G (p.Cys140Trp)
c.384+120C>G (n.384+120C>G)
c.387C>G (p.Cys129Trp)
n.58-862C>G
22g.20139755C>TCA513691337ZDHHC8c.420C>T (p.Cys140=)
c.384+120C>T (n.384+120C>T)
c.387C>T (p.Cys129=)
n.58-862C>T
22g.20139756A=CA2396214241ZDHHC8c.421A= (p.Ile141=)
c.384+121A= (n.384+121A=)
c.388A= (p.Ile130=)
n.58-861A=
22g.20139756A>CCA410734177ZDHHC8c.421A>C (p.Ile141Leu)
c.384+121A>C (n.384+121A>C)
c.388A>C (p.Ile130Leu)
n.58-861A>C
22g.20139756A>GCA410734178ZDHHC8c.421A>G (p.Ile141Val)
c.384+121A>G (n.384+121A>G)
c.388A>G (p.Ile130Val)
n.58-861A>G
 dbSNP gnomAD v4
22g.20139756A>TCA410734179ZDHHC8c.421A>T (p.Ile141Phe)
c.384+121A>T (n.384+121A>T)
c.388A>T (p.Ile130Phe)
n.58-861A>T
22g.20139757T>ACA410734180ZDHHC8c.422T>A (p.Ile141Asn)
c.384+122T>A (n.384+122T>A)
c.389T>A (p.Ile130Asn)
n.58-860T>A
22g.20139757T>CCA410734181ZDHHC8c.422T>C (p.Ile141Thr)
c.384+122T>C (n.384+122T>C)
c.389T>C (p.Ile130Thr)
n.58-860T>C
22g.20139757T>GCA410734182ZDHHC8c.422T>G (p.Ile141Ser)
c.384+122T>G (n.384+122T>G)
c.389T>G (p.Ile130Ser)
n.58-860T>G
22g.20139758C>ACA513691341ZDHHC8c.423C>A (p.Ile141=)
c.384+123C>A (n.384+123C>A)
c.390C>A (p.Ile130=)
n.58-859C>A
 gnomAD v4
22g.20139758C=CA2396214242ZDHHC8c.423C= (p.Ile141=)
c.384+123C= (n.384+123C=)
c.390C= (p.Ile130=)
n.58-859C=
22g.20139758C>GCA410734183ZDHHC8c.423C>G (p.Ile141Met)
c.384+123C>G (n.384+123C>G)
c.390C>G (p.Ile130Met)
n.58-859C>G
22g.20139758C>TCA10108568ZDHHC8c.423C>T (p.Ile141=)
c.384+123C>T (n.384+123C>T)
c.390C>T (p.Ile130=)
n.58-859C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.20139759G>ACA410734184ZDHHC8c.424G>A (p.Gly142Arg)
c.384+124G>A (n.384+124G>A)
c.391G>A (p.Gly131Arg)
n.58-858G>A
22g.20139759G>CCA410734185ZDHHC8c.424G>C (p.Gly142Arg)
c.384+124G>C (n.384+124G>C)
c.391G>C (p.Gly131Arg)
n.58-858G>C
22g.20139759G>TCA410734186ZDHHC8c.424G>T (p.Gly142Trp)
c.384+124G>T (n.384+124G>T)
c.391G>T (p.Gly131Trp)
n.58-858G>T
22g.20139760G>ACA410734189ZDHHC8c.425G>A (p.Gly142Glu)
c.384+125G>A (n.384+125G>A)
c.392G>A (p.Gly131Glu)
n.58-857G>A
22g.20139760G>CCA410734188ZDHHC8c.425G>C (p.Gly142Ala)
c.384+125G>C (n.384+125G>C)
c.392G>C (p.Gly131Ala)
n.58-857G>C
22g.20139760G>TCA410734187ZDHHC8c.425G>T (p.Gly142Val)
c.384+125G>T (n.384+125G>T)
c.392G>T (p.Gly131Val)
n.58-857G>T
22g.20139761G>ACA513691344ZDHHC8c.426G>A (p.Gly142=)
c.384+126G>A (n.384+126G>A)
c.393G>A (p.Gly131=)
n.58-856G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20139761G>CCA513691345ZDHHC8c.426G>C (p.Gly142=)
c.384+126G>C (n.384+126G>C)
c.393G>C (p.Gly131=)
n.58-856G>C
22g.20139761G=CA2396214243ZDHHC8c.426G= (p.Gly142=)
c.384+126G= (n.384+126G=)
c.393G= (p.Gly131=)
n.58-856G=
22g.20139761G>TCA513691347ZDHHC8c.426G>T (p.Gly142=)
c.384+126G>T (n.384+126G>T)
c.393G>T (p.Gly131=)
n.58-856G>T
 dbSNP gnomAD v2 gnomAD v4
22g.20139762C>ACA410734190ZDHHC8c.427C>A (p.Arg143Ser)
c.384+127C>A (n.384+127C>A)
c.394C>A (p.Arg132Ser)
n.58-855C>A
22g.20139762C=CA2396214244ZDHHC8c.427C= (p.Arg143=)
c.384+127C= (n.384+127C=)
c.394C= (p.Arg132=)
n.58-855C=
22g.20139762C>GCA410734191ZDHHC8c.427C>G (p.Arg143Gly)
c.384+127C>G (n.384+127C>G)
c.394C>G (p.Arg132Gly)
n.58-855C>G
22g.20139762C>TCA10108569ZDHHC8c.427C>T (p.Arg143Cys)
c.384+127C>T (n.384+127C>T)
c.394C>T (p.Arg132Cys)
n.58-855C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139763G>ACA410734192ZDHHC8c.428G>A (p.Arg143His)
c.384+128G>A (n.384+128G>A)
c.395G>A (p.Arg132His)
n.58-854G>A
 dbSNP gnomAD v2 gnomAD v4
22g.20139763G>CCA410734193ZDHHC8c.428G>C (p.Arg143Pro)
c.384+128G>C (n.384+128G>C)
c.395G>C (p.Arg132Pro)
n.58-854G>C
22g.20139763G=CA2396214245ZDHHC8c.428G= (p.Arg143=)
c.384+128G= (n.384+128G=)
c.395G= (p.Arg132=)
n.58-854G=
22g.20139763G>TCA410734194ZDHHC8c.428G>T (p.Arg143Leu)
c.384+128G>T (n.384+128G>T)
c.395G>T (p.Arg132Leu)
n.58-854G>T
 gnomAD v4
22g.20139764T>ACA513691350ZDHHC8c.429T>A (p.Arg143=)
c.384+129T>A (n.384+129T>A)
c.396T>A (p.Arg132=)
n.58-853T>A
22g.20139764T>CCA513691348ZDHHC8c.429T>C (p.Arg143=)
c.384+129T>C (n.384+129T>C)
c.396T>C (p.Arg132=)
n.58-853T>C
22g.20139764T>GCA513691349ZDHHC8c.429T>G (p.Arg143=)
c.384+129T>G (n.384+129T>G)
c.396T>G (p.Arg132=)
n.58-853T>G
22g.20139765C>ACA513691353ZDHHC8c.430C>A (p.Arg144=)
c.384+130C>A (n.384+130C>A)
c.397C>A (p.Arg133=)
n.58-852C>A
22g.20139765C=CA2396214246ZDHHC8c.430C= (p.Arg144=)
c.384+130C= (n.384+130C=)
c.397C= (p.Arg133=)
n.58-852C=
22g.20139765C>GCA410734195ZDHHC8c.430C>G (p.Arg144Gly)
c.384+130C>G (n.384+130C>G)
c.397C>G (p.Arg133Gly)
n.58-852C>G
 gnomAD v4
22g.20139765C>TCA410734196ZDHHC8c.430C>T (p.Arg144Ter)
c.384+130C>T (n.384+130C>T)
c.397C>T (p.Arg133Ter)
n.58-852C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.20139766G>ACA410734197ZDHHC8c.431G>A (p.Arg144Gln)
c.384+131G>A (n.384+131G>A)
c.398G>A (p.Arg133Gln)
n.58-851G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
22g.20139766G>CCA410734198ZDHHC8c.431G>C (p.Arg144Pro)
c.384+131G>C (n.384+131G>C)
c.398G>C (p.Arg133Pro)
n.58-851G>C
22g.20139766G=CA2396214247ZDHHC8c.431G= (p.Arg144=)
c.384+131G= (n.384+131G=)
c.398G= (p.Arg133=)
n.58-851G=
22g.20139766G>TCA410734199ZDHHC8c.431G>T (p.Arg144Leu)
c.384+131G>T (n.384+131G>T)
c.398G>T (p.Arg133Leu)
n.58-851G>T
22g.20139767A>CCA513691354ZDHHC8c.432A>C (p.Arg144=)
c.384+132A>C (n.384+132A>C)
c.399A>C (p.Arg133=)
n.58-850A>C
22g.20139767A>GCA513691355ZDHHC8c.432A>G (p.Arg144=)
c.384+132A>G (n.384+132A>G)
c.399A>G (p.Arg133=)
n.58-850A>G
22g.20139767A>TCA513691356ZDHHC8c.432A>T (p.Arg144=)
c.384+132A>T (n.384+132A>T)
c.399A>T (p.Arg133=)
n.58-850A>T
22g.20139768A>CCA410734200ZDHHC8c.433A>C (p.Asn145His)
c.384+133A>C (n.384+133A>C)
c.400A>C (p.Asn134His)
n.58-849A>C
22g.20139768A>GCA410734201ZDHHC8c.433A>G (p.Asn145Asp)
c.384+133A>G (n.384+133A>G)
c.400A>G (p.Asn134Asp)
n.58-849A>G
22g.20139768A>TCA410734202ZDHHC8c.433A>T (p.Asn145Tyr)
c.384+133A>T (n.384+133A>T)
c.400A>T (p.Asn134Tyr)
n.58-849A>T
22g.20139769A>CCA410734205ZDHHC8c.434A>C (p.Asn145Thr)
c.384+134A>C (n.384+134A>C)
c.401A>C (p.Asn134Thr)
n.58-848A>C
22g.20139769A>GCA410734203ZDHHC8c.434A>G (p.Asn145Ser)
c.384+134A>G (n.384+134A>G)
c.401A>G (p.Asn134Ser)
n.58-848A>G
22g.20139769A>TCA410734204ZDHHC8c.434A>T (p.Asn145Ile)
c.384+134A>T (n.384+134A>T)
c.401A>T (p.Asn134Ile)
n.58-848A>T
22g.20139770C>ACA410734206ZDHHC8c.435C>A (p.Asn145Lys)
c.384+135C>A (n.384+135C>A)
c.402C>A (p.Asn134Lys)
n.58-847C>A
22g.20139770C>GCA410734207ZDHHC8c.435C>G (p.Asn145Lys)
c.384+135C>G (n.384+135C>G)
c.402C>G (p.Asn134Lys)
n.58-847C>G
22g.20139770C>TCA513691359ZDHHC8c.435C>T (p.Asn145=)
c.384+135C>T (n.384+135C>T)
c.402C>T (p.Asn134=)
n.58-847C>T
22g.20139771T>ACA410734208ZDHHC8c.436T>A (p.Tyr146Asn)
c.384+136T>A (n.384+136T>A)
c.403T>A (p.Tyr135Asn)
n.58-846T>A
22g.20139771T>CCA410734209ZDHHC8c.436T>C (p.Tyr146His)
c.384+136T>C (n.384+136T>C)
c.403T>C (p.Tyr135His)
n.58-846T>C
22g.20139771T>GCA410734210ZDHHC8c.436T>G (p.Tyr146Asp)
c.384+136T>G (n.384+136T>G)
c.403T>G (p.Tyr135Asp)
n.58-846T>G
22g.20139772A>CCA410734211ZDHHC8c.437A>C (p.Tyr146Ser)
c.384+137A>C (n.384+137A>C)
c.404A>C (p.Tyr135Ser)
n.58-845A>C
22g.20139772A>GCA410734212ZDHHC8c.437A>G (p.Tyr146Cys)
c.384+137A>G (n.384+137A>G)
c.404A>G (p.Tyr135Cys)
n.58-845A>G
 gnomAD v4
22g.20139772A>TCA410734213ZDHHC8c.437A>T (p.Tyr146Phe)
c.384+137A>T (n.384+137A>T)
c.404A>T (p.Tyr135Phe)
n.58-845A>T
22g.20139773T>ACA410734214ZDHHC8c.438T>A (p.Tyr146Ter)
c.384+138T>A (n.384+138T>A)
c.405T>A (p.Tyr135Ter)
n.58-844T>A
22g.20139773T>CCA513691361ZDHHC8c.438T>C (p.Tyr146=)
c.384+138T>C (n.384+138T>C)
c.405T>C (p.Tyr135=)
n.58-844T>C
22g.20139773T>GCA410734215ZDHHC8c.438T>G (p.Tyr146Ter)
c.384+138T>G (n.384+138T>G)
c.405T>G (p.Tyr135Ter)
n.58-844T>G
22g.20139774C>ACA410734217ZDHHC8c.439C>A (p.Arg147Ser)
c.384+139C>A (n.384+139C>A)
c.406C>A (p.Arg136Ser)
n.58-843C>A
22g.20139774C=CA2396214248ZDHHC8c.439C= (p.Arg147=)
c.384+139C= (n.384+139C=)
c.406C= (p.Arg136=)
n.58-843C=
22g.20139774C>GCA410734218ZDHHC8c.439C>G (p.Arg147Gly)
c.384+139C>G (n.384+139C>G)
c.406C>G (p.Arg136Gly)
n.58-843C>G
 gnomAD v4
22g.20139774C>TCA410734216ZDHHC8c.439C>T (p.Arg147Cys)
c.384+139C>T (n.384+139C>T)
c.406C>T (p.Arg136Cys)
n.58-843C>T
 dbSNP gnomAD v4
22g.20139775G>ACA410734219ZDHHC8c.440G>A (p.Arg147His)
c.384+140G>A (n.384+140G>A)
c.407G>A (p.Arg136His)
n.58-842G>A
 dbSNP gnomAD v2 gnomAD v4
22g.20139775G>CCA410734220ZDHHC8c.440G>C (p.Arg147Pro)
c.384+140G>C (n.384+140G>C)
c.407G>C (p.Arg136Pro)
n.58-842G>C
22g.20139775G=CA2396214249ZDHHC8c.440G= (p.Arg147=)
c.384+140G= (n.384+140G=)
c.407G= (p.Arg136=)
n.58-842G=
22g.20139775G>TCA410734221ZDHHC8c.440G>T (p.Arg147Leu)
c.384+140G>T (n.384+140G>T)
c.407G>T (p.Arg136Leu)
n.58-842G>T
 gnomAD v4
22g.20139776C>ACA513691362ZDHHC8c.441C>A (p.Arg147=)
c.384+141C>A (n.384+141C>A)
c.408C>A (p.Arg136=)
n.58-841C>A
 COSMIC
22g.20139776C>GCA513691363ZDHHC8c.441C>G (p.Arg147=)
c.384+141C>G (n.384+141C>G)
c.408C>G (p.Arg136=)
n.58-841C>G
22g.20139776C>TCA513691364ZDHHC8c.441C>T (p.Arg147=)
c.384+141C>T (n.384+141C>T)
c.408C>T (p.Arg136=)
n.58-841C>T
22g.20139777T>ACA410734222ZDHHC8c.442T>A (p.Tyr148Asn)
c.384+142T>A (n.384+142T>A)
c.409T>A (p.Tyr137Asn)
n.58-840T>A
22g.20139777T>CCA410734223ZDHHC8c.442T>C (p.Tyr148His)
c.384+142T>C (n.384+142T>C)
c.409T>C (p.Tyr137His)
n.58-840T>C
22g.20139777T>GCA410734224ZDHHC8c.442T>G (p.Tyr148Asp)
c.384+142T>G (n.384+142T>G)
c.409T>G (p.Tyr137Asp)
n.58-840T>G
22g.20139778A>CCA410734227ZDHHC8c.443A>C (p.Tyr148Ser)
c.384+143A>C (n.384+143A>C)
c.410A>C (p.Tyr137Ser)
n.58-839A>C
22g.20139778A>GCA410734225ZDHHC8c.443A>G (p.Tyr148Cys)
c.384+143A>G (n.384+143A>G)
c.410A>G (p.Tyr137Cys)
n.58-839A>G
 gnomAD v4
22g.20139778A>TCA410734226ZDHHC8c.443A>T (p.Tyr148Phe)
c.384+143A>T (n.384+143A>T)
c.410A>T (p.Tyr137Phe)
n.58-839A>T
22g.20139779C>ACA410734228ZDHHC8c.444C>A (p.Tyr148Ter)
c.384+144C>A (n.384+144C>A)
c.411C>A (p.Tyr137Ter)
n.58-838C>A
22g.20139779C>GCA410734229ZDHHC8c.444C>G (p.Tyr148Ter)
c.384+144C>G (n.384+144C>G)
c.411C>G (p.Tyr137Ter)
n.58-838C>G
22g.20139779C>TCA513691367ZDHHC8c.444C>T (p.Tyr148=)
c.384+144C>T (n.384+144C>T)
c.411C>T (p.Tyr137=)
n.58-838C>T
22g.20139780T>ACA410734230ZDHHC8c.445T>A (p.Phe149Ile)
c.384+145T>A (n.384+145T>A)
c.412T>A (p.Phe138Ile)
n.58-837T>A
22g.20139780T>CCA410734231ZDHHC8c.445T>C (p.Phe149Leu)
c.384+145T>C (n.384+145T>C)
c.412T>C (p.Phe138Leu)
n.58-837T>C
22g.20139780T>GCA410734232ZDHHC8c.445T>G (p.Phe149Val)
c.384+145T>G (n.384+145T>G)
c.412T>G (p.Phe138Val)
n.58-837T>G
22g.20139781T>ACA410734233ZDHHC8c.446T>A (p.Phe149Tyr)
c.384+146T>A (n.384+146T>A)
c.413T>A (p.Phe138Tyr)
n.58-836T>A
22g.20139781T>CCA410734235ZDHHC8c.446T>C (p.Phe149Ser)
c.384+146T>C (n.384+146T>C)
c.413T>C (p.Phe138Ser)
n.58-836T>C
22g.20139781T>GCA410734234ZDHHC8c.446T>G (p.Phe149Cys)
c.384+146T>G (n.384+146T>G)
c.413T>G (p.Phe138Cys)
n.58-836T>G
22g.20139782C>ACA410734236ZDHHC8c.447C>A (p.Phe149Leu)
c.384+147C>A (n.384+147C>A)
c.414C>A (p.Phe138Leu)
n.58-835C>A
22g.20139782C>GCA410734237ZDHHC8c.447C>G (p.Phe149Leu)
c.384+147C>G (n.384+147C>G)
c.414C>G (p.Phe138Leu)
n.58-835C>G
22g.20139782C>TCA513691369ZDHHC8c.447C>T (p.Phe149=)
c.384+147C>T (n.384+147C>T)
c.414C>T (p.Phe138=)
n.58-835C>T
 gnomAD v4
22g.20139782_20139783insGAGTAACGGCCAGAGGCTGCA2655368976ZDHHC8c.447_448insGAGTAACGGCCAGAGGCTG (p.Phe150GlufsTer2)
c.384+147_384+148insGAGTAACGGCCAGAGGCTG (n.384+147_384+148insGAGTAACGGCCAGAGGCTG)
c.414_415insGAGTAACGGCCAGAGGCTG (p.Phe139GlufsTer2)
n.58-835_58-834insGAGTAACGGCCAGAGGCTG
 gnomAD v4
22g.20139783T>ACA410734238ZDHHC8c.448T>A (p.Phe150Ile)
c.384+148T>A (n.384+148T>A)
c.415T>A (p.Phe139Ile)
n.58-834T>A
22g.20139783T>CCA410734239ZDHHC8c.448T>C (p.Phe150Leu)
c.384+148T>C (n.384+148T>C)
c.415T>C (p.Phe139Leu)
n.58-834T>C
22g.20139783T>GCA410734240ZDHHC8c.448T>G (p.Phe150Val)
c.384+148T>G (n.384+148T>G)
c.415T>G (p.Phe139Val)
n.58-834T>G
22g.20139784T>ACA410734241ZDHHC8c.449T>A (p.Phe150Tyr)
c.384+149T>A (n.384+149T>A)
c.416T>A (p.Phe139Tyr)
n.58-833T>A
22g.20139784T>CCA410734242ZDHHC8c.449T>C (p.Phe150Ser)
c.384+149T>C (n.384+149T>C)
c.416T>C (p.Phe139Ser)
n.58-833T>C
22g.20139784T>GCA410734243ZDHHC8c.449T>G (p.Phe150Cys)
c.384+149T>G (n.384+149T>G)
c.416T>G (p.Phe139Cys)
n.58-833T>G
22g.20139785C>ACA410734244ZDHHC8c.450C>A (p.Phe150Leu)
c.384+150C>A (n.384+150C>A)
c.417C>A (p.Phe139Leu)
n.58-832C>A
22g.20139785C=CA2396214250ZDHHC8c.450C= (p.Phe150=)
c.384+150C= (n.384+150C=)
c.417C= (p.Phe139=)
n.58-832C=
22g.20139785C>GCA410734245ZDHHC8c.450C>G (p.Phe150Leu)
c.384+150C>G (n.384+150C>G)
c.417C>G (p.Phe139Leu)
n.58-832C>G
 dbSNP
22g.20139785C>TCA513691374ZDHHC8c.450C>T (p.Phe150=)
c.384+150C>T (n.384+150C>T)
c.417C>T (p.Phe139=)
n.58-832C>T
22g.20139786C>ACA410734246ZDHHC8c.451C>A (p.Leu151Met)
c.384+151C>A (n.384+151C>A)
c.418C>A (p.Leu140Met)
n.58-831C>A
22g.20139786C=CA2396214251ZDHHC8c.451C= (p.Leu151=)
c.384+151C= (n.384+151C=)
c.418C= (p.Leu140=)
n.58-831C=
22g.20139786C>GCA410734247ZDHHC8c.451C>G (p.Leu151Val)
c.384+151C>G (n.384+151C>G)
c.418C>G (p.Leu140Val)
n.58-831C>G
22g.20139786C>TCA513691376ZDHHC8c.451C>T (p.Leu151=)
c.384+151C>T (n.384+151C>T)
c.418C>T (p.Leu140=)
n.58-831C>T
 dbSNP
22g.20139787T>ACA410734249ZDHHC8c.452T>A (p.Leu151Gln)
c.384+152T>A (n.384+152T>A)
c.419T>A (p.Leu140Gln)
n.58-830T>A
 gnomAD v4
22g.20139787T>CCA410734250ZDHHC8c.452T>C (p.Leu151Pro)
c.384+152T>C (n.384+152T>C)
c.419T>C (p.Leu140Pro)
n.58-830T>C
22g.20139787T>GCA410734248ZDHHC8c.452T>G (p.Leu151Arg)
c.384+152T>G (n.384+152T>G)
c.419T>G (p.Leu140Arg)
n.58-830T>G
22g.20139788G>ACA513691380ZDHHC8c.453G>A (p.Leu151=)
c.384+153G>A (n.384+153G>A)
c.420G>A (p.Leu140=)
n.58-829G>A
 dbSNP gnomAD v2 gnomAD v4
22g.20139788G>CCA513691381ZDHHC8c.453G>C (p.Leu151=)
c.384+153G>C (n.384+153G>C)
c.420G>C (p.Leu140=)
n.58-829G>C
22g.20139788G=CA2396214252ZDHHC8c.453G= (p.Leu151=)
c.384+153G= (n.384+153G=)
c.420G= (p.Leu140=)
n.58-829G=
22g.20139788G>TCA513691382ZDHHC8c.453G>T (p.Leu151=)
c.384+153G>T (n.384+153G>T)
c.420G>T (p.Leu140=)
n.58-829G>T
22g.20139789T>ACA410734252ZDHHC8c.454T>A (p.Phe152Ile)
c.384+154T>A (n.384+154T>A)
c.421T>A (p.Phe141Ile)
n.58-828T>A
22g.20139789T>CCA410734251ZDHHC8c.454T>C (p.Phe152Leu)
c.384+154T>C (n.384+154T>C)
c.421T>C (p.Phe141Leu)
n.58-828T>C
22g.20139789T>GCA410734253ZDHHC8c.454T>G (p.Phe152Val)
c.384+154T>G (n.384+154T>G)
c.421T>G (p.Phe141Val)
n.58-828T>G
22g.20139790T>ACA410734254ZDHHC8c.455T>A (p.Phe152Tyr)
c.384+155T>A (n.384+155T>A)
c.422T>A (p.Phe141Tyr)
n.58-827T>A
22g.20139790T>CCA410734256ZDHHC8c.455T>C (p.Phe152Ser)
c.384+155T>C (n.384+155T>C)
c.422T>C (p.Phe141Ser)
n.58-827T>C
22g.20139790T>GCA410734255ZDHHC8c.455T>G (p.Phe152Cys)
c.384+155T>G (n.384+155T>G)
c.422T>G (p.Phe141Cys)
n.58-827T>G
22g.20139791C>ACA410734257ZDHHC8c.456C>A (p.Phe152Leu)
c.384+156C>A (n.384+156C>A)
c.423C>A (p.Phe141Leu)
n.58-826C>A
22g.20139791C=CA2396214253ZDHHC8c.456C= (p.Phe152=)
c.384+156C= (n.384+156C=)
c.423C= (p.Phe141=)
n.58-826C=
22g.20139791C>GCA410734258ZDHHC8c.456C>G (p.Phe152Leu)
c.384+156C>G (n.384+156C>G)
c.423C>G (p.Phe141Leu)
n.58-826C>G
22g.20139791C>TCA10108570ZDHHC8c.456C>T (p.Phe152=)
c.384+156C>T (n.384+156C>T)
c.423C>T (p.Phe141=)
n.58-826C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139792C>ACA410734259ZDHHC8c.457C>A (p.Leu153Met)
c.384+157C>A (n.384+157C>A)
c.424C>A (p.Leu142Met)
n.58-825C>A
22g.20139792C=CA2396214254ZDHHC8c.457C= (p.Leu153=)
c.384+157C= (n.384+157C=)
c.424C= (p.Leu142=)
n.58-825C=
22g.20139792C>GCA410734260ZDHHC8c.457C>G (p.Leu153Val)
c.384+157C>G (n.384+157C>G)
c.424C>G (p.Leu142Val)
n.58-825C>G
22g.20139792C>TCA513691385ZDHHC8c.457C>T (p.Leu153=)
c.384+157C>T (n.384+157C>T)
c.424C>T (p.Leu142=)
n.58-825C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
22g.20139793T>ACA410734261ZDHHC8c.458T>A (p.Leu153Gln)
c.384+158T>A (n.384+158T>A)
c.425T>A (p.Leu142Gln)
n.58-824T>A
22g.20139793T>CCA410734262ZDHHC8c.458T>C (p.Leu153Pro)
c.384+158T>C (n.384+158T>C)
c.425T>C (p.Leu142Pro)
n.58-824T>C
22g.20139793T>GCA410734263ZDHHC8c.458T>G (p.Leu153Arg)
c.384+158T>G (n.384+158T>G)
c.425T>G (p.Leu142Arg)
n.58-824T>G
22g.20139794G>ACA513691387ZDHHC8c.459G>A (p.Leu153=)
c.384+159G>A (n.384+159G>A)
c.426G>A (p.Leu142=)
n.58-823G>A
 dbSNP gnomAD v2 gnomAD v4
22g.20139794G>CCA513691388ZDHHC8c.459G>C (p.Leu153=)
c.384+159G>C (n.384+159G>C)
c.426G>C (p.Leu142=)
n.58-823G>C
 gnomAD v4
22g.20139794G=CA2396214255ZDHHC8c.459G= (p.Leu153=)
c.384+159G= (n.384+159G=)
c.426G= (p.Leu142=)
n.58-823G=
22g.20139794G>TCA513691390ZDHHC8c.459G>T (p.Leu153=)
c.384+159G>T (n.384+159G>T)
c.426G>T (p.Leu142=)
n.58-823G>T
22g.20139795C>ACA410734264ZDHHC8c.460C>A (p.Leu154Met)
c.384+160C>A (n.384+160C>A)
c.427C>A (p.Leu143Met)
n.58-822C>A
 dbSNP gnomAD v2 gnomAD v4
22g.20139795C=CA2396214256ZDHHC8c.460C= (p.Leu154=)
c.384+160C= (n.384+160C=)
c.427C= (p.Leu143=)
n.58-822C=
22g.20139795C>GCA410734265ZDHHC8c.460C>G (p.Leu154Val)
c.384+160C>G (n.384+160C>G)
c.427C>G (p.Leu143Val)
n.58-822C>G
22g.20139795C>TCA513691391ZDHHC8c.460C>T (p.Leu154=)
c.384+160C>T (n.384+160C>T)
c.427C>T (p.Leu143=)
n.58-822C>T
22g.20139796T>ACA410734268ZDHHC8c.461T>A (p.Leu154Gln)
c.384+161T>A (n.384+161T>A)
c.428T>A (p.Leu143Gln)
n.58-821T>A
22g.20139796T>CCA410734267ZDHHC8c.461T>C (p.Leu154Pro)
c.384+161T>C (n.384+161T>C)
c.428T>C (p.Leu143Pro)
n.58-821T>C
22g.20139796T>GCA410734266ZDHHC8c.461T>G (p.Leu154Arg)
c.384+161T>G (n.384+161T>G)
c.428T>G (p.Leu143Arg)
n.58-821T>G
22g.20139797G>ACA513691393ZDHHC8c.462G>A (p.Leu154=)
c.384+162G>A (n.384+162G>A)
c.429G>A (p.Leu143=)
n.58-820G>A
 dbSNP
22g.20139797G>CCA513691396ZDHHC8c.462G>C (p.Leu154=)
c.384+162G>C (n.384+162G>C)
c.429G>C (p.Leu143=)
n.58-820G>C
22g.20139797G=CA2396214257ZDHHC8c.462G= (p.Leu154=)
c.384+162G= (n.384+162G=)
c.429G= (p.Leu143=)
n.58-820G=
22g.20139797G>TCA513691397ZDHHC8c.462G>T (p.Leu154=)
c.384+162G>T (n.384+162G>T)
c.429G>T (p.Leu143=)
n.58-820G>T
22g.20139798T>ACA410734269ZDHHC8c.463T>A (p.Ser155Thr)
c.384+163T>A (n.384+163T>A)
c.430T>A (p.Ser144Thr)
n.58-819T>A
22g.20139798T>CCA410734270ZDHHC8c.463T>C (p.Ser155Pro)
c.384+163T>C (n.384+163T>C)
c.430T>C (p.Ser144Pro)
n.58-819T>C
22g.20139798T>GCA410734271ZDHHC8c.463T>G (p.Ser155Ala)
c.384+163T>G (n.384+163T>G)
c.430T>G (p.Ser144Ala)
n.58-819T>G
22g.20139801_20139804delCA2510917025ZDHHC8c.466_469del (p.Leu156ValfsTer16)
c.384+166_384+169del (n.384+166_384+169del)
c.433_436del (p.Leu145ValfsTer16)
n.58-816_58-813del
22g.20139799C>ACA410734272ZDHHC8c.464C>A (p.Ser155Ter)
c.384+164C>A (n.384+164C>A)
c.431C>A (p.Ser144Ter)
n.58-818C>A
22g.20139799C>GCA410734273ZDHHC8c.464C>G (p.Ser155Ter)
c.384+164C>G (n.384+164C>G)
c.431C>G (p.Ser144Ter)
n.58-818C>G
22g.20139799C>TCA410734274ZDHHC8c.464C>T (p.Ser155Leu)
c.384+164C>T (n.384+164C>T)
c.431C>T (p.Ser144Leu)
n.58-818C>T
22g.20139800A>CCA513691403ZDHHC8c.465A>C (p.Ser155=)
c.384+165A>C (n.384+165A>C)
c.432A>C (p.Ser144=)
n.58-817A>C
22g.20139800A>GCA513691400ZDHHC8c.465A>G (p.Ser155=)
c.384+165A>G (n.384+165A>G)
c.432A>G (p.Ser144=)
n.58-817A>G
22g.20139800A>TCA513691401ZDHHC8c.465A>T (p.Ser155=)
c.384+165A>T (n.384+165A>T)
c.432A>T (p.Ser144=)
n.58-817A>T
22g.20139801C>ACA410734275ZDHHC8c.466C>A (p.Leu156Ile)
c.384+166C>A (n.384+166C>A)
c.433C>A (p.Leu145Ile)
n.58-816C>A
22g.20139801C>GCA410734276ZDHHC8c.466C>G (p.Leu156Val)
c.384+166C>G (n.384+166C>G)
c.433C>G (p.Leu145Val)
n.58-816C>G
22g.20139801C>TCA410734277ZDHHC8c.466C>T (p.Leu156Phe)
c.384+166C>T (n.384+166C>T)
c.433C>T (p.Leu145Phe)
n.58-816C>T
22g.20139802T>ACA410734278ZDHHC8c.467T>A (p.Leu156His)
c.384+167T>A (n.384+167T>A)
c.434T>A (p.Leu145His)
n.58-815T>A
22g.20139802T>CCA410734279ZDHHC8c.467T>C (p.Leu156Pro)
c.384+167T>C (n.384+167T>C)
c.434T>C (p.Leu145Pro)
n.58-815T>C
22g.20139802T>GCA410734280ZDHHC8c.467T>G (p.Leu156Arg)
c.384+167T>G (n.384+167T>G)
c.434T>G (p.Leu145Arg)
n.58-815T>G
22g.20139803C>ACA513691409ZDHHC8c.468C>A (p.Leu156=)
c.384+168C>A (n.384+168C>A)
c.435C>A (p.Leu145=)
n.58-814C>A
22g.20139803C>GCA513691411ZDHHC8c.468C>G (p.Leu156=)
c.384+168C>G (n.384+168C>G)
c.435C>G (p.Leu145=)
n.58-814C>G
 gnomAD v4
22g.20139803C>TCA513691412ZDHHC8c.468C>T (p.Leu156=)
c.384+168C>T (n.384+168C>T)
c.435C>T (p.Leu145=)
n.58-814C>T
22g.20139804A=CA2396214258ZDHHC8c.469A= (p.Ser157=)
c.384+169A= (n.384+169A=)
c.436A= (p.Ser146=)
n.58-813A=
22g.20139804A>CCA410734282ZDHHC8c.469A>C (p.Ser157Arg)
c.384+169A>C (n.384+169A>C)
c.436A>C (p.Ser146Arg)
n.58-813A>C
22g.20139804A>GCA410734283ZDHHC8c.469A>G (p.Ser157Gly)
c.384+169A>G (n.384+169A>G)
c.436A>G (p.Ser146Gly)
n.58-813A>G
 dbSNP gnomAD v2
22g.20139804A>TCA410734281ZDHHC8c.469A>T (p.Ser157Cys)
c.384+169A>T (n.384+169A>T)
c.436A>T (p.Ser146Cys)
n.58-813A>T
22g.20139805G>ACA410734284ZDHHC8c.470G>A (p.Ser157Asn)
c.384+170G>A (n.384+170G>A)
c.437G>A (p.Ser146Asn)
n.58-812G>A
22g.20139805G>CCA410734285ZDHHC8c.470G>C (p.Ser157Thr)
c.384+170G>C (n.384+170G>C)
c.437G>C (p.Ser146Thr)
n.58-812G>C
22g.20139805G>TCA410734286ZDHHC8c.470G>T (p.Ser157Ile)
c.384+170G>T (n.384+170G>T)
c.437G>T (p.Ser146Ile)
n.58-812G>T
22g.20139806T>ACA410734287ZDHHC8c.471T>A (p.Ser157Arg)
c.384+171T>A (n.384+171T>A)
c.438T>A (p.Ser146Arg)
n.58-811T>A
22g.20139806T>CCA513691414ZDHHC8c.471T>C (p.Ser157=)
c.384+171T>C (n.384+171T>C)
c.438T>C (p.Ser146=)
n.58-811T>C
22g.20139806T>GCA410734288ZDHHC8c.471T>G (p.Ser157Arg)
c.384+171T>G (n.384+171T>G)
c.438T>G (p.Ser146Arg)
n.58-811T>G
22g.20139807G>ACA410734291ZDHHC8c.472G>A (p.Ala158Thr)
c.384+172G>A (n.384+172G>A)
c.439G>A (p.Ala147Thr)
n.58-810G>A
22g.20139807G>CCA410734290ZDHHC8c.472G>C (p.Ala158Pro)
c.384+172G>C (n.384+172G>C)
c.439G>C (p.Ala147Pro)
n.58-810G>C
22g.20139807G>TCA410734289ZDHHC8c.472G>T (p.Ala158Ser)
c.384+172G>T (n.384+172G>T)
c.439G>T (p.Ala147Ser)
n.58-810G>T
22g.20139808C>ACA410734292ZDHHC8c.473C>A (p.Ala158Glu)
c.384+173C>A (n.384+173C>A)
c.440C>A (p.Ala147Glu)
n.58-809C>A
22g.20139808C>GCA410734293ZDHHC8c.473C>G (p.Ala158Gly)
c.384+173C>G (n.384+173C>G)
c.440C>G (p.Ala147Gly)
n.58-809C>G
22g.20139808C>TCA410734294ZDHHC8c.473C>T (p.Ala158Val)
c.384+173C>T (n.384+173C>T)
c.440C>T (p.Ala147Val)
n.58-809C>T
22g.20139809A>CCA513691419ZDHHC8c.474A>C (p.Ala158=)
c.384+174A>C (n.384+174A>C)
c.441A>C (p.Ala147=)
n.58-808A>C
22g.20139809A>GCA513691417ZDHHC8c.474A>G (p.Ala158=)
c.384+174A>G (n.384+174A>G)
c.441A>G (p.Ala147=)
n.58-808A>G
22g.20139809A>TCA513691418ZDHHC8c.474A>T (p.Ala158=)
c.384+174A>T (n.384+174A>T)
c.441A>T (p.Ala147=)
n.58-808A>T
22g.20139810C>ACA410734295ZDHHC8c.475C>A (p.His159Asn)
c.384+175C>A (n.384+175C>A)
c.442C>A (p.His148Asn)
n.58-807C>A
22g.20139810C>GCA410734296ZDHHC8c.475C>G (p.His159Asp)
c.384+175C>G (n.384+175C>G)
c.442C>G (p.His148Asp)
n.58-807C>G
22g.20139810C>TCA410734297ZDHHC8c.475C>T (p.His159Tyr)
c.384+175C>T (n.384+175C>T)
c.442C>T (p.His148Tyr)
n.58-807C>T
22g.20139811A>CCA410734298ZDHHC8c.476A>C (p.His159Pro)
c.384+176A>C (n.384+176A>C)
c.443A>C (p.His148Pro)
n.58-806A>C
22g.20139811A>GCA410734300ZDHHC8c.476A>G (p.His159Arg)
c.384+176A>G (n.384+176A>G)
c.443A>G (p.His148Arg)
n.58-806A>G
22g.20139811A>TCA410734299ZDHHC8c.476A>T (p.His159Leu)
c.384+176A>T (n.384+176A>T)
c.443A>T (p.His148Leu)
n.58-806A>T
22g.20139812C>ACA410734301ZDHHC8c.477C>A (p.His159Gln)
c.384+177C>A (n.384+177C>A)
c.444C>A (p.His148Gln)
n.58-805C>A
 dbSNP
22g.20139812C=CA2396214259ZDHHC8c.477C= (p.His159=)
c.384+177C= (n.384+177C=)
c.444C= (p.His148=)
n.58-805C=
22g.20139812C>GCA410734302ZDHHC8c.477C>G (p.His159Gln)
c.384+177C>G (n.384+177C>G)
c.444C>G (p.His148Gln)
n.58-805C>G
22g.20139812C>TCA513691421ZDHHC8c.477C>T (p.His159=)
c.384+177C>T (n.384+177C>T)
c.444C>T (p.His148=)
n.58-805C>T
 gnomAD v4
22g.20139813A>CCA410734303ZDHHC8c.478A>C (p.Met160Leu)
c.384+178A>C (n.384+178A>C)
c.445A>C (p.Met149Leu)
n.58-804A>C
22g.20139813A>GCA410734304ZDHHC8c.478A>G (p.Met160Val)
c.384+178A>G (n.384+178A>G)
c.445A>G (p.Met149Val)
n.58-804A>G
 gnomAD v4
22g.20139813A>TCA410734305ZDHHC8c.478A>T (p.Met160Leu)
c.384+178A>T (n.384+178A>T)
c.445A>T (p.Met149Leu)
n.58-804A>T
22g.20139814T>ACA410734306ZDHHC8c.479T>A (p.Met160Lys)
c.384+179T>A (n.384+179T>A)
c.446T>A (p.Met149Lys)
n.58-803T>A
22g.20139814T>CCA410734307ZDHHC8c.479T>C (p.Met160Thr)
c.384+179T>C (n.384+179T>C)
c.446T>C (p.Met149Thr)
n.58-803T>C
 gnomAD v4
22g.20139814T>GCA410734308ZDHHC8c.479T>G (p.Met160Arg)
c.384+179T>G (n.384+179T>G)
c.446T>G (p.Met149Arg)
n.58-803T>G
22g.20139815G>ACA410734309ZDHHC8c.480G>A (p.Met160Ile)
c.384+180G>A (n.384+180G>A)
c.447G>A (p.Met149Ile)
n.58-802G>A
 ClinVar
22g.20139815G>CCA410734310ZDHHC8c.480G>C (p.Met160Ile)
c.384+180G>C (n.384+180G>C)
c.447G>C (p.Met149Ile)
n.58-802G>C
 dbSNP gnomAD v2 gnomAD v4
22g.20139815G=CA2396214260ZDHHC8c.480G= (p.Met160=)
c.384+180G= (n.384+180G=)
c.447G= (p.Met149=)
n.58-802G=
22g.20139815G>TCA410734311ZDHHC8c.480G>T (p.Met160Ile)
c.384+180G>T (n.384+180G>T)
c.447G>T (p.Met149Ile)
n.58-802G>T
22g.20139816G>ACA410734314ZDHHC8c.481G>A (p.Val161Met)
c.384+181G>A (n.384+181G>A)
c.448G>A (p.Val150Met)
n.58-801G>A
22g.20139816G>CCA410734313ZDHHC8c.481G>C (p.Val161Leu)
c.384+181G>C (n.384+181G>C)
c.448G>C (p.Val150Leu)
n.58-801G>C
22g.20139816G>TCA410734312ZDHHC8c.481G>T (p.Val161Leu)
c.384+181G>T (n.384+181G>T)
c.448G>T (p.Val150Leu)
n.58-801G>T
 gnomAD v4
22g.20139817T>ACA410734315ZDHHC8c.482T>A (p.Val161Glu)
c.384+182T>A (n.384+182T>A)
c.449T>A (p.Val150Glu)
n.58-800T>A
22g.20139817T>CCA410734317ZDHHC8c.482T>C (p.Val161Ala)
c.384+182T>C (n.384+182T>C)
c.449T>C (p.Val150Ala)
n.58-800T>C
22g.20139817T>GCA410734316ZDHHC8c.482T>G (p.Val161Gly)
c.384+182T>G (n.384+182T>G)
c.449T>G (p.Val150Gly)
n.58-800T>G
22g.20139818G>ACA513691430ZDHHC8c.483G>A (p.Val161=)
c.384+183G>A (n.384+183G>A)
c.450G>A (p.Val150=)
n.58-799G>A
22g.20139818G>CCA513691433ZDHHC8c.483G>C (p.Val161=)
c.384+183G>C (n.384+183G>C)
c.450G>C (p.Val150=)
n.58-799G>C
22g.20139818G>TCA513691431ZDHHC8c.483G>T (p.Val161=)
c.384+183G>T (n.384+183G>T)
c.450G>T (p.Val150=)
n.58-799G>T
22g.20139820delCA2577650826ZDHHC8c.485del (p.Gly162AlafsTer11)
c.384+185del (n.384+185del)
c.452del (p.Gly151AlafsTer11)
n.58-797del
22g.20139819G>ACA410734318ZDHHC8c.484G>A (p.Gly162Ser)
c.384+184G>A (n.384+184G>A)
c.451G>A (p.Gly151Ser)
n.58-798G>A
22g.20139819G>CCA410734319ZDHHC8c.484G>C (p.Gly162Arg)
c.384+184G>C (n.384+184G>C)
c.451G>C (p.Gly151Arg)
n.58-798G>C
22g.20139819G>TCA410734320ZDHHC8c.484G>T (p.Gly162Cys)
c.384+184G>T (n.384+184G>T)
c.451G>T (p.Gly151Cys)
n.58-798G>T
22g.20139820G>ACA410734321ZDHHC8c.485G>A (p.Gly162Asp)
c.384+185G>A (n.384+185G>A)
c.452G>A (p.Gly151Asp)
n.58-797G>A
22g.20139820G>CCA410734322ZDHHC8c.485G>C (p.Gly162Ala)
c.384+185G>C (n.384+185G>C)
c.452G>C (p.Gly151Ala)
n.58-797G>C
22g.20139820G>TCA410734323ZDHHC8c.485G>T (p.Gly162Val)
c.384+185G>T (n.384+185G>T)
c.452G>T (p.Gly151Val)
n.58-797G>T
22g.20139821C>ACA513691438ZDHHC8c.486C>A (p.Gly162=)
c.384+186C>A (n.384+186C>A)
c.453C>A (p.Gly151=)
n.58-796C>A
22g.20139821C=CA2396214261ZDHHC8c.486C= (p.Gly162=)
c.384+186C= (n.384+186C=)
c.453C= (p.Gly151=)
n.58-796C=
22g.20139821C>GCA513691439ZDHHC8c.486C>G (p.Gly162=)
c.384+186C>G (n.384+186C>G)
c.453C>G (p.Gly151=)
n.58-796C>G
22g.20139821C>TCA10108571ZDHHC8c.486C>T (p.Gly162=)
c.384+186C>T (n.384+186C>T)
c.453C>T (p.Gly151=)
n.58-796C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139822G>ACA10108572ZDHHC8c.487G>A (p.Val163Ile)
c.384+187G>A (n.384+187G>A)
c.454G>A (p.Val152Ile)
n.58-795G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139822G>CCA410734324ZDHHC8c.487G>C (p.Val163Leu)
c.384+187G>C (n.384+187G>C)
c.454G>C (p.Val152Leu)
n.58-795G>C
 gnomAD v4
22g.20139822G=CA2396214262ZDHHC8c.487G= (p.Val163=)
c.384+187G= (n.384+187G=)
c.454G= (p.Val152=)
n.58-795G=
22g.20139822G>TCA410734325ZDHHC8c.487G>T (p.Val163Phe)
c.384+187G>T (n.384+187G>T)
c.454G>T (p.Val152Phe)
n.58-795G>T
22g.20139823T>ACA410734326ZDHHC8c.488T>A (p.Val163Asp)
c.384+188T>A (n.384+188T>A)
c.455T>A (p.Val152Asp)
n.58-794T>A
22g.20139823T>CCA410734327ZDHHC8c.488T>C (p.Val163Ala)
c.384+188T>C (n.384+188T>C)
c.455T>C (p.Val152Ala)
n.58-794T>C
22g.20139823T>GCA410734328ZDHHC8c.488T>G (p.Val163Gly)
c.384+188T>G (n.384+188T>G)
c.455T>G (p.Val152Gly)
n.58-794T>G
22g.20139824C>ACA513691441ZDHHC8c.489C>A (p.Val163=)
c.384+189C>A (n.384+189C>A)
c.456C>A (p.Val152=)
n.58-793C>A
22g.20139824C=CA2396214263ZDHHC8c.489C= (p.Val163=)
c.384+189C= (n.384+189C=)
c.456C= (p.Val152=)
n.58-793C=
22g.20139824C>GCA513691442ZDHHC8c.489C>G (p.Val163=)
c.384+189C>G (n.384+189C>G)
c.456C>G (p.Val152=)
n.58-793C>G
22g.20139824C>TCA10108573ZDHHC8c.489C>T (p.Val163=)
c.384+189C>T (n.384+189C>T)
c.456C>T (p.Val152=)
n.58-793C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139825G>ACA322204548ZDHHC8c.490G>A (p.Val164Met)
c.384+190G>A (n.384+190G>A)
c.457G>A (p.Val153Met)
n.58-792G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.20139825G>CCA410734329ZDHHC8c.490G>C (p.Val164Leu)
c.384+190G>C (n.384+190G>C)
c.457G>C (p.Val153Leu)
n.58-792G>C
22g.20139825G=CA2396214264ZDHHC8c.490G= (p.Val164=)
c.384+190G= (n.384+190G=)
c.457G= (p.Val153=)
n.58-792G=
22g.20139825G>TCA410734330ZDHHC8c.490G>T (p.Val164Leu)
c.384+190G>T (n.384+190G>T)
c.457G>T (p.Val153Leu)
n.58-792G>T
22g.20139826T>ACA410734331ZDHHC8c.491T>A (p.Val164Glu)
c.384+191T>A (n.384+191T>A)
c.458T>A (p.Val153Glu)
n.58-791T>A
 dbSNP gnomAD v2 gnomAD v4
22g.20139826T>CCA410734332ZDHHC8c.491T>C (p.Val164Ala)
c.384+191T>C (n.384+191T>C)
c.458T>C (p.Val153Ala)
n.58-791T>C
22g.20139826T>GCA410734333ZDHHC8c.491T>G (p.Val164Gly)
c.384+191T>G (n.384+191T>G)
c.458T>G (p.Val153Gly)
n.58-791T>G
22g.20139826T=CA2396214265ZDHHC8c.491T= (p.Val164=)
c.384+191T= (n.384+191T=)
c.458T= (p.Val153=)
n.58-791T=
22g.20139827G>ACA513691444ZDHHC8c.492G>A (p.Val164=)
c.384+192G>A (n.384+192G>A)
c.459G>A (p.Val153=)
n.58-790G>A
22g.20139827G>CCA513691445ZDHHC8c.492G>C (p.Val164=)
c.384+192G>C (n.384+192G>C)
c.459G>C (p.Val153=)
n.58-790G>C
22g.20139827G>TCA513691446ZDHHC8c.492G>T (p.Val164=)
c.384+192G>T (n.384+192G>T)
c.459G>T (p.Val153=)
n.58-790G>T
22g.20139828G>ACA410734334ZDHHC8c.493G>A (p.Ala165Thr)
c.384+193G>A (n.384+193G>A)
c.460G>A (p.Ala154Thr)
n.58-789G>A
22g.20139828G>CCA410734335ZDHHC8c.493G>C (p.Ala165Pro)
c.384+193G>C (n.384+193G>C)
c.460G>C (p.Ala154Pro)
n.58-789G>C
22g.20139828G=CA2396214266ZDHHC8c.493G= (p.Ala165=)
c.384+193G= (n.384+193G=)
c.460G= (p.Ala154=)
n.58-789G=
22g.20139828G>TCA410734336ZDHHC8c.493G>T (p.Ala165Ser)
c.384+193G>T (n.384+193G>T)
c.460G>T (p.Ala154Ser)
n.58-789G>T
22g.20139828_20139829insGGGGGGGGGGGGGGGGGGGGGGGGGGGACA1139769910ZDHHC8c.493_494insGGGGGGGGGGGGGGGGGGGGGGGGGGGA (p.Ala165GlyfsTer21)
c.384+193_384+194insGGGGGGGGGGGGGGGGGGGGGGGGGGGA (n.384+193_384+194insGGGGGGGGGGGGGGGGGGGGGGGGGGGA)
c.460_461insGGGGGGGGGGGGGGGGGGGGGGGGGGGA (p.Ala154GlyfsTer21)
n.58-789_58-788insGGGGGGGGGGGGGGGGGGGGGGGGGGGA
22g.20139829C>ACA410734337ZDHHC8c.494C>A (p.Ala165Asp)
c.384+194C>A (n.384+194C>A)
c.461C>A (p.Ala154Asp)
n.58-788C>A
22g.20139829C>GCA410734338ZDHHC8c.494C>G (p.Ala165Gly)
c.384+194C>G (n.384+194C>G)
c.461C>G (p.Ala154Gly)
n.58-788C>G
 gnomAD v4
22g.20139829C>TCA410734339ZDHHC8c.494C>T (p.Ala165Val)
c.384+194C>T (n.384+194C>T)
c.461C>T (p.Ala154Val)
n.58-788C>T
22g.20139830dupCA322204550ZDHHC8c.495dup (p.Phe166LeufsTer11)
c.384+195dup (n.384+195dup)
c.462dup (p.Phe155LeufsTer11)
n.58-787dup
 dbSNP
22g.20139829_20139833delCA2655369088ZDHHC8c.494_498del (p.Ala165GlyfsTer10)
c.384+194_384+198del (n.384+194_384+198del)
c.461_465del (p.Ala154GlyfsTer10)
n.58-788_58-784del
 gnomAD v4
22g.20139830C>ACA513691450ZDHHC8c.495C>A (p.Ala165=)
c.384+195C>A (n.384+195C>A)
c.462C>A (p.Ala154=)
n.58-787C>A
22g.20139830C=CA2396214267ZDHHC8c.495C= (p.Ala165=)
c.384+195C= (n.384+195C=)
c.462C= (p.Ala154=)
n.58-787C=
22g.20139830C>GCA513691449ZDHHC8c.495C>G (p.Ala165=)
c.384+195C>G (n.384+195C>G)
c.462C>G (p.Ala154=)
n.58-787C>G
22g.20139830C>TCA513691448ZDHHC8c.495C>T (p.Ala165=)
c.384+195C>T (n.384+195C>T)
c.462C>T (p.Ala154=)
n.58-787C>T
 dbSNP
22g.20139831T>ACA410734343ZDHHC8c.496T>A (p.Phe166Ile)
c.384+196T>A (n.384+196T>A)
c.463T>A (p.Phe155Ile)
n.58-786T>A
22g.20139831T>CCA410734341ZDHHC8c.496T>C (p.Phe166Leu)
c.384+196T>C (n.384+196T>C)
c.463T>C (p.Phe155Leu)
n.58-786T>C
22g.20139831T>GCA410734340ZDHHC8c.496T>G (p.Phe166Val)
c.384+196T>G (n.384+196T>G)
c.463T>G (p.Phe155Val)
n.58-786T>G
 gnomAD v4
22g.20139832T>ACA410734345ZDHHC8c.497T>A (p.Phe166Tyr)
c.384+197T>A (n.384+197T>A)
c.464T>A (p.Phe155Tyr)
n.58-785T>A
22g.20139832T>CCA410734346ZDHHC8c.497T>C (p.Phe166Ser)
c.384+197T>C (n.384+197T>C)
c.464T>C (p.Phe155Ser)
n.58-785T>C
 gnomAD v4
22g.20139832T>GCA410734348ZDHHC8c.497T>G (p.Phe166Cys)
c.384+197T>G (n.384+197T>G)
c.464T>G (p.Phe155Cys)
n.58-785T>G
22g.20139833C>ACA410734349ZDHHC8c.498C>A (p.Phe166Leu)
c.384+198C>A (n.384+198C>A)
c.465C>A (p.Phe155Leu)
n.58-784C>A
 gnomAD v4 COSMIC
22g.20139833C=CA2396214268ZDHHC8c.498C= (p.Phe166=)
c.384+198C= (n.384+198C=)
c.465C= (p.Phe155=)
n.58-784C=
22g.20139833C>GCA410734350ZDHHC8c.498C>G (p.Phe166Leu)
c.384+198C>G (n.384+198C>G)
c.465C>G (p.Phe155Leu)
n.58-784C>G
 gnomAD v4
22g.20139833C>TCA10108574ZDHHC8c.498C>T (p.Phe166=)
c.384+198C>T (n.384+198C>T)
c.465C>T (p.Phe155=)
n.58-784C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139834G>ACA10108575ZDHHC8c.499G>A (p.Gly167Ser)
c.384+199G>A (n.384+199G>A)
c.466G>A (p.Gly156Ser)
n.58-783G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.20139834G>CCA410734353ZDHHC8c.499G>C (p.Gly167Arg)
c.384+199G>C (n.384+199G>C)
c.466G>C (p.Gly156Arg)
n.58-783G>C
22g.20139834G=CA2396214269ZDHHC8c.499G= (p.Gly167=)
c.384+199G= (n.384+199G=)
c.466G= (p.Gly156=)
n.58-783G=
22g.20139834G>TCA410734355ZDHHC8c.499G>T (p.Gly167Cys)
c.384+199G>T (n.384+199G>T)
c.466G>T (p.Gly156Cys)
n.58-783G>T
22g.20139835G>ACA410734358ZDHHC8c.500G>A (p.Gly167Asp)
c.384+200G>A (n.384+200G>A)
c.467G>A (p.Gly156Asp)
n.58-782G>A
22g.20139835G>CCA410734359ZDHHC8c.500G>C (p.Gly167Ala)
c.384+200G>C (n.384+200G>C)
c.467G>C (p.Gly156Ala)
n.58-782G>C
22g.20139835G>TCA410734361ZDHHC8c.500G>T (p.Gly167Val)
c.384+200G>T (n.384+200G>T)
c.467G>T (p.Gly156Val)
n.58-782G>T
22g.20139836C>ACA513691209ZDHHC8c.501C>A (p.Gly167=)
c.384+201C>A (n.384+201C>A)
c.468C>A (p.Gly156=)
n.58-781C>A
22g.20139836C=CA2396214270ZDHHC8c.501C= (p.Gly167=)
c.384+201C= (n.384+201C=)
c.468C= (p.Gly156=)
n.58-781C=
22g.20139836C>GCA513691210ZDHHC8c.501C>G (p.Gly167=)
c.384+201C>G (n.384+201C>G)
c.468C>G (p.Gly156=)
n.58-781C>G
 gnomAD v4
22g.20139836C>TCA10108576ZDHHC8c.501C>T (p.Gly167=)
c.384+201C>T (n.384+201C>T)
c.468C>T (p.Gly156=)
n.58-781C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.20139836_20139838delCA2655369130ZDHHC8c.501_503del (p.Leu168del)
c.384+201_384+203del (n.384+201_384+203del)
c.468_470del (p.Leu157del)
n.58-781_58-779del
 gnomAD v4
22g.20139837C>ACA410734365ZDHHC8c.502C>A (p.Leu168Met)
c.384+202C>A (n.384+202C>A)
c.469C>A (p.Leu157Met)
n.58-780C>A
22g.20139837C>GCA410734364ZDHHC8c.502C>G (p.Leu168Val)
c.384+202C>G (n.384+202C>G)
c.469C>G (p.Leu157Val)
n.58-780C>G
22g.20139837C>TCA513691212ZDHHC8c.502C>T (p.Leu168=)
c.384+202C>T (n.384+202C>T)
c.469C>T (p.Leu157=)
n.58-780C>T
 gnomAD v4
22g.20139838T>ACA410734366ZDHHC8c.503T>A (p.Leu168Gln)
c.384+203T>A (n.384+203T>A)
c.470T>A (p.Leu157Gln)
n.58-779T>A
22g.20139838T>CCA410734367ZDHHC8c.503T>C (p.Leu168Pro)
c.384+203T>C (n.384+203T>C)
c.470T>C (p.Leu157Pro)
n.58-779T>C
22g.20139838T>GCA410734369ZDHHC8c.503T>G (p.Leu168Arg)
c.384+203T>G (n.384+203T>G)
c.470T>G (p.Leu157Arg)
n.58-779T>G
 gnomAD v4
22g.20139839G>ACA513691217ZDHHC8c.504G>A (p.Leu168=)
c.384+204G>A (n.384+204G>A)
c.471G>A (p.Leu157=)
n.58-778G>A
22g.20139839G>CCA513691218ZDHHC8c.504G>C (p.Leu168=)
c.384+204G>C (n.384+204G>C)
c.471G>C (p.Leu157=)
n.58-778G>C
22g.20139839G=CA2396214271ZDHHC8c.504G= (p.Leu168=)
c.384+204G= (n.384+204G=)
c.471G= (p.Leu157=)
n.58-778G=
22g.20139839G>TCA513691219ZDHHC8c.504G>T (p.Leu168=)
c.384+204G>T (n.384+204G>T)
c.471G>T (p.Leu157=)
n.58-778G>T
 dbSNP gnomAD v4
22g.20139840G>ACA410734371ZDHHC8c.505G>A (p.Val169Ile)
c.384+205G>A (n.384+205G>A)
c.472G>A (p.Val158Ile)
n.58-777G>A
22g.20139840G>CCA410734373ZDHHC8c.505G>C (p.Val169Leu)
c.384+205G>C (n.384+205G>C)
c.472G>C (p.Val158Leu)
n.58-777G>C
22g.20139840G>TCA410734374ZDHHC8c.505G>T (p.Val169Phe)
c.384+205G>T (n.384+205G>T)
c.472G>T (p.Val158Phe)
n.58-777G>T
 gnomAD v4
22g.20139841T>ACA410734375ZDHHC8c.506T>A (p.Val169Asp)
c.384+206T>A (n.384+206T>A)
c.473T>A (p.Val158Asp)
n.58-776T>A
22g.20139841T>CCA410734377ZDHHC8c.506T>C (p.Val169Ala)
c.384+206T>C (n.384+206T>C)
c.473T>C (p.Val158Ala)
n.58-776T>C
22g.20139841T>GCA410734379ZDHHC8c.506T>G (p.Val169Gly)
c.384+206T>G (n.384+206T>G)
c.473T>G (p.Val158Gly)
n.58-776T>G
 dbSNP
22g.20139841T=CA2396214272ZDHHC8c.506T= (p.Val169=)
c.384+206T= (n.384+206T=)
c.473T= (p.Val158=)
n.58-776T=
22g.20139842C>ACA513691225ZDHHC8c.507C>A (p.Val169=)
c.384+207C>A (n.384+207C>A)
c.474C>A (p.Val158=)
n.58-775C>A
22g.20139842C>GCA513691226ZDHHC8c.507C>G (p.Val169=)
c.384+207C>G (n.384+207C>G)
c.474C>G (p.Val158=)
n.58-775C>G
22g.20139842C>TCA513691227ZDHHC8c.507C>T (p.Val169=)
c.384+207C>T (n.384+207C>T)
c.474C>T (p.Val158=)
n.58-775C>T
22g.20139843T>ACA410734381ZDHHC8c.508T>A (p.Tyr170Asn)
c.384+208T>A (n.384+208T>A)
c.475T>A (p.Tyr159Asn)
n.58-774T>A
22g.20139843T>CCA410734382ZDHHC8c.508T>C (p.Tyr170His)
c.384+208T>C (n.384+208T>C)
c.475T>C (p.Tyr159His)
n.58-774T>C
22g.20139843T>GCA410734384ZDHHC8c.508T>G (p.Tyr170Asp)
c.384+208T>G (n.384+208T>G)
c.475T>G (p.Tyr159Asp)
n.58-774T>G
22g.20139844A>CCA410734390ZDHHC8c.509A>C (p.Tyr170Ser)
c.384+209A>C (n.384+209A>C)
c.476A>C (p.Tyr159Ser)
n.58-773A>C
22g.20139844A>GCA410734388ZDHHC8c.509A>G (p.Tyr170Cys)
c.384+209A>G (n.384+209A>G)
c.476A>G (p.Tyr159Cys)
n.58-773A>G
22g.20139844A>TCA410734387ZDHHC8c.509A>T (p.Tyr170Phe)
c.384+209A>T (n.384+209A>T)
c.476A>T (p.Tyr159Phe)
n.58-773A>T
22g.20139845C>ACA410734392ZDHHC8c.510C>A (p.Tyr170Ter)
c.384+210C>A (n.384+210C>A)
c.477C>A (p.Tyr159Ter)
n.58-772C>A
 gnomAD v4
22g.20139845C=CA2396214273ZDHHC8c.510C= (p.Tyr170=)
c.384+210C= (n.384+210C=)
c.477C= (p.Tyr159=)
n.58-772C=
22g.20139845C>GCA410734395ZDHHC8c.510C>G (p.Tyr170Ter)
c.384+210C>G (n.384+210C>G)
c.477C>G (p.Tyr159Ter)
n.58-772C>G
22g.20139845C>TCA10108577ZDHHC8c.510C>T (p.Tyr170=)
c.384+210C>T (n.384+210C>T)
c.477C>T (p.Tyr159=)
n.58-772C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139846G>ACA10108578ZDHHC8c.511G>A (p.Val171Met)
c.384+211G>A (n.384+211G>A)
c.478G>A (p.Val160Met)
n.58-771G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139846G>CCA410734397ZDHHC8c.511G>C (p.Val171Leu)
c.384+211G>C (n.384+211G>C)
c.478G>C (p.Val160Leu)
n.58-771G>C
22g.20139846G=CA2396214274ZDHHC8c.511G= (p.Val171=)
c.384+211G= (n.384+211G=)
c.478G= (p.Val160=)
n.58-771G=
22g.20139846G>TCA10108579ZDHHC8c.511G>T (p.Val171Leu)
c.384+211G>T (n.384+211G>T)
c.478G>T (p.Val160Leu)
n.58-771G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20139847T>ACA410734400ZDHHC8c.512T>A (p.Val171Glu)
c.384+212T>A (n.384+212T>A)
c.479T>A (p.Val160Glu)
n.58-770T>A
22g.20139847T>CCA410734402ZDHHC8c.512T>C (p.Val171Ala)
c.384+212T>C (n.384+212T>C)
c.479T>C (p.Val160Ala)
n.58-770T>C
22g.20139847T>GCA410734403ZDHHC8c.512T>G (p.Val171Gly)
c.384+212T>G (n.384+212T>G)
c.479T>G (p.Val160Gly)
n.58-770T>G
22g.20139848G>ACA513691241ZDHHC8c.513G>A (p.Val171=)
c.384+213G>A (n.384+213G>A)
c.480G>A (p.Val160=)
n.58-769G>A
22g.20139848G>CCA513691240ZDHHC8c.513G>C (p.Val171=)
c.384+213G>C (n.384+213G>C)
c.480G>C (p.Val160=)
n.58-769G>C
22g.20139848G>TCA513691239ZDHHC8c.513G>T (p.Val171=)
c.384+213G>T (n.384+213G>T)
c.480G>T (p.Val160=)
n.58-769G>T
22g.20139849C>ACA410734406ZDHHC8c.514C>A (p.Leu172Met)
c.384+214C>A (n.384+214C>A)
c.481C>A (p.Leu161Met)
n.58-768C>A
 gnomAD v4
22g.20139849C=CA2396214275ZDHHC8c.514C= (p.Leu172=)
c.384+214C= (n.384+214C=)
c.481C= (p.Leu161=)
n.58-768C=
22g.20139849C>GCA322204559ZDHHC8c.514C>G (p.Leu172Val)
c.384+214C>G (n.384+214C>G)
c.481C>G (p.Leu161Val)
n.58-768C>G
 dbSNP
22g.20139849C>TCA513691242ZDHHC8c.514C>T (p.Leu172=)
c.384+214C>T (n.384+214C>T)
c.481C>T (p.Leu161=)
n.58-768C>T

Number of alleles fetched