Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.74718810C>ACA360070182HEXBc.1256C>A (p.Thr419Lys)
c.132C>A
n.453C>A
c.581C>A (p.Thr194Lys)
c.192C>A
n.74-99C>A
5g.74718810C>GCA360070183HEXBc.1256C>G (p.Thr419Arg)
c.132C>G
n.453C>G
c.581C>G (p.Thr194Arg)
c.192C>G
n.74-99C>G
 gnomAD v4
5g.74718810C>TCA360070184HEXBc.1256C>T (p.Thr419Ile)
c.132C>T
n.453C>T
c.581C>T (p.Thr194Ile)
c.192C>T
n.74-99C>T
5g.74718811A=CA1555781587HEXBc.1257A= (p.Thr419=)
c.133A=
n.454A=
c.582A= (p.Thr194=)
c.193A=
n.74-98A=
5g.74718811A>CCA444848885HEXBc.1257A>C (p.Thr419=)
c.133A>C
n.454A>C
c.582A>C (p.Thr194=)
c.193A>C
n.74-98A>C
5g.74718811A>GCA444848886HEXBc.1257A>G (p.Thr419=)
c.133A>G
n.454A>G
c.582A>G (p.Thr194=)
c.193A>G
n.74-98A>G
 dbSNP gnomAD v4
5g.74718811A>TCA444848887HEXBc.1257A>T (p.Thr419=)
c.133A>T
n.454A>T
c.582A>T (p.Thr194=)
c.193A>T
n.74-98A>T
5g.74718812A=CA1555781591HEXBc.1258A= (p.Ile420=)
c.134A=
n.455A=
c.583A= (p.Ile195=)
c.194A=
n.74-97A=
5g.74718812A>CCA360070186HEXBc.1258A>C (p.Ile420Leu)
c.134A>C
n.455A>C
c.583A>C (p.Ile195Leu)
c.194A>C
n.74-97A>C
5g.74718812A>GCA3306092HEXBc.1258A>G (p.Ile420Val)
c.134A>G
n.455A>G
c.583A>G (p.Ile195Val)
c.194A>G
n.74-97A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74718812A>TCA360070185HEXBc.1258A>T (p.Ile420Leu)
c.134A>T
n.455A>T
c.583A>T (p.Ile195Leu)
c.194A>T
n.74-97A>T
5g.74718813T>ACA360070187HEXBc.1259T>A (p.Ile420Lys)
c.135T>A
n.456T>A
c.584T>A (p.Ile195Lys)
c.195T>A
n.74-96T>A
5g.74718813T>CCA360070189HEXBc.1259T>C (p.Ile420Thr)
c.135T>C
n.456T>C
c.584T>C (p.Ile195Thr)
c.195T>C
n.74-96T>C
 dbSNP gnomAD v2 gnomAD v4
5g.74718813T>GCA360070188HEXBc.1259T>G (p.Ile420Arg)
c.135T>G
n.456T>G
c.584T>G (p.Ile195Arg)
c.195T>G
n.74-96T>G
 gnomAD v4
5g.74718813T=CA1555781595HEXBc.1259T= (p.Ile420=)
c.135T=
n.456T=
c.584T= (p.Ile195=)
c.195T=
n.74-96T=
5g.74718814_74718817delCA2695204625HEXBc.1260_1263del (p.Ile420MetfsTer23)
c.136_139del
n.457_460del
c.585_588del (p.Ile195MetfsTer23)
c.196_199del
n.74-95_74-92del
5g.74718814A=CA1555781599HEXBc.1260A= (p.Ile420=)
c.136A=
n.457A=
c.585A= (p.Ile195=)
c.196A=
n.74-95A=
5g.74718814A>CCA444848888HEXBc.1260A>C (p.Ile420=)
c.136A>C
n.457A>C
c.585A>C (p.Ile195=)
c.196A>C
n.74-95A>C
5g.74718814A>GCA360070190HEXBc.1260A>G (p.Ile420Met)
c.136A>G
n.457A>G
c.585A>G (p.Ile195Met)
c.196A>G
n.74-95A>G
 dbSNP gnomAD v4
5g.74718814A>TCA444848889HEXBc.1260A>T (p.Ile420=)
c.136A>T
n.457A>T
c.585A>T (p.Ile195=)
c.196A>T
n.74-95A>T
5g.74718817_74718822delCA2695204626HEXBc.1263_1268del (p.Glu422_Val423del)
c.139_144del
n.460_465del
c.588_593del (p.Glu197_Val198del)
c.199_204del
n.74-92_74-87del
5g.74718815G>ACA360070191HEXBc.1261G>A (p.Val421Ile)
c.137G>A
n.458G>A
c.586G>A (p.Val196Ile)
c.197G>A
n.74-94G>A
5g.74718815G>CCA360070192HEXBc.1261G>C (p.Val421Leu)
c.137G>C
n.458G>C
c.586G>C (p.Val196Leu)
c.197G>C
n.74-94G>C
5g.74718815G>TCA360070193HEXBc.1261G>T (p.Val421Phe)
c.137G>T
n.458G>T
c.586G>T (p.Val196Phe)
c.197G>T
n.74-94G>T
 gnomAD v4
5g.74718816T>ACA360070194HEXBc.1262T>A (p.Val421Asp)
c.138T>A
n.459T>A
c.587T>A (p.Val196Asp)
c.198T>A
n.74-93T>A
5g.74718816T>CCA360070195HEXBc.1262T>C (p.Val421Ala)
c.138T>C
n.459T>C
c.587T>C (p.Val196Ala)
c.198T>C
n.74-93T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.74718816T>GCA360070196HEXBc.1262T>G (p.Val421Gly)
c.138T>G
n.459T>G
c.587T>G (p.Val196Gly)
c.198T>G
n.74-93T>G
5g.74718816T=CA1555781602HEXBc.1262T= (p.Val421=)
c.138T=
n.459T=
c.587T= (p.Val196=)
c.198T=
n.74-93T=
5g.74718817T>ACA444848890HEXBc.1263T>A (p.Val421=)
c.139T>A
n.460T>A
c.588T>A (p.Val196=)
c.199T>A
n.74-92T>A
5g.74718817T>CCA444848891HEXBc.1263T>C (p.Val421=)
c.139T>C
n.460T>C
c.588T>C (p.Val196=)
c.199T>C
n.74-92T>C
5g.74718817T>GCA444848892HEXBc.1263T>G (p.Val421=)
c.139T>G
n.460T>G
c.588T>G (p.Val196=)
c.199T>G
n.74-92T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.74718817T=CA1555781606HEXBc.1263T= (p.Val421=)
c.139T=
n.460T=
c.588T= (p.Val196=)
c.199T=
n.74-92T=
5g.74718818G>ACA360070197HEXBc.1264G>A (p.Glu422Lys)
c.140G>A
n.461G>A
c.589G>A (p.Glu197Lys)
c.200G>A
n.74-91G>A
5g.74718818G>CCA360070198HEXBc.1264G>C (p.Glu422Gln)
c.140G>C
n.461G>C
c.589G>C (p.Glu197Gln)
c.200G>C
n.74-91G>C
5g.74718818G>TCA360070199HEXBc.1264G>T (p.Glu422Ter)
c.140G>T
n.461G>T
c.589G>T (p.Glu197Ter)
c.200G>T
n.74-91G>T
 gnomAD v4
5g.74718818dupCA2573139797HEXBc.1264dup (p.Glu422GlyfsTer10)
c.140dup
n.461dup
c.589dup (p.Glu197GlyfsTer10)
c.200dup
n.74-91dup
 ClinVar dbSNP gnomAD v4
5g.74718819A=CA1555781609HEXBc.1265A= (p.Glu422=)
c.141A=
n.462A=
c.590A= (p.Glu197=)
c.201A=
n.74-90A=
5g.74718819A>CCA360070200HEXBc.1265A>C (p.Glu422Ala)
c.141A>C
n.462A>C
c.590A>C (p.Glu197Ala)
c.201A>C
n.74-90A>C
5g.74718819A>GCA360070201HEXBc.1265A>G (p.Glu422Gly)
c.141A>G
n.462A>G
c.590A>G (p.Glu197Gly)
c.201A>G
n.74-90A>G
5g.74718819A>TCA3306093HEXBc.1265A>T (p.Glu422Val)
c.141A>T
n.462A>T
c.590A>T (p.Glu197Val)
c.201A>T
n.74-90A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.74718820A=CA1555781613HEXBc.1266A= (p.Glu422=)
c.142A=
n.463A=
c.591A= (p.Glu197=)
c.202A=
n.74-89A=
5g.74718820A>CCA3306094HEXBc.1266A>C (p.Glu422Asp)
c.142A>C
n.463A>C
c.591A>C (p.Glu197Asp)
c.202A>C
n.74-89A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74718820A>GCA444848893HEXBc.1266A>G (p.Glu422=)
c.142A>G
n.463A>G
c.591A>G (p.Glu197=)
c.202A>G
n.74-89A>G
 gnomAD v4
5g.74718820A>TCA360070202HEXBc.1266A>T (p.Glu422Asp)
c.142A>T
n.463A>T
c.591A>T (p.Glu197Asp)
c.202A>T
n.74-89A>T
5g.74718821G>ACA360070203HEXBc.1267G>A (p.Val423Ile)
c.143G>A
n.464G>A
c.592G>A (p.Val198Ile)
c.203G>A
n.74-88G>A
 dbSNP gnomAD v3 gnomAD v4
5g.74718821G>CCA360070204HEXBc.1267G>C (p.Val423Leu)
c.143G>C
n.464G>C
c.592G>C (p.Val198Leu)
c.203G>C
n.74-88G>C
5g.74718821G=CA1555781617HEXBc.1267G= (p.Val423=)
c.143G=
n.464G=
c.592G= (p.Val198=)
c.203G=
n.74-88G=
5g.74718821G>TCA360070205HEXBc.1267G>T (p.Val423Leu)
c.143G>T
n.464G>T
c.592G>T (p.Val198Leu)
c.203G>T
n.74-88G>T
5g.74718822T>ACA360070206HEXBc.1268T>A (p.Val423Glu)
c.144T>A
n.465T>A
c.593T>A (p.Val198Glu)
c.204T>A
n.74-87T>A
 dbSNP
5g.74718822T>CCA360070207HEXBc.1268T>C (p.Val423Ala)
c.144T>C
n.465T>C
c.593T>C (p.Val198Ala)
c.204T>C
n.74-87T>C
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched