Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.31950687A=CA1619378551CFBc.1693A= (p.Lys565=)
c.3199A= (p.Lys1067=)
n.819A=
c.2746A= (p.Lys916=)
n.315A=
6g.31950687A>CCA363408937CFBc.1693A>C (p.Lys565Gln)
c.3199A>C (p.Lys1067Gln)
n.819A>C
c.2746A>C (p.Lys916Gln)
n.315A>C
6g.31950687A>GCA3728432CFBc.1693A>G (p.Lys565Glu)
c.3199A>G (p.Lys1067Glu)
n.819A>G
c.2746A>G (p.Lys916Glu)
n.315A>G
ClinVar dbSNP ExAC gnomAD
6g.31950687A>TCA363408935CFBc.1693A>T (p.Lys565Ter)
c.3199A>T (p.Lys1067Ter)
n.819A>T
c.2746A>T (p.Lys916Ter)
n.315A>T
6g.31950688A=CA1619378553CFBc.1694A= (p.Lys565=)
c.3200A= (p.Lys1067=)
n.820A=
c.2747A= (p.Lys916=)
n.316A=
6g.31950688A>CCA363408939CFBc.1694A>C (p.Lys565Thr)
c.3200A>C (p.Lys1067Thr)
n.820A>C
c.2747A>C (p.Lys916Thr)
n.316A>C
gnomAD
6g.31950688A>GCA363408942CFBc.1694A>G (p.Lys565Arg)
c.3200A>G (p.Lys1067Arg)
n.820A>G
c.2747A>G (p.Lys916Arg)
n.316A>G
6g.31950688A>TCA363408944CFBc.1694A>T (p.Lys565Ile)
c.3200A>T (p.Lys1067Ile)
n.820A>T
c.2747A>T (p.Lys916Ile)
n.316A>T
6g.31950689A=CA1619378555CFBc.1695A= (p.Lys565=)
c.3201A= (p.Lys1067=)
n.821A=
c.2748A= (p.Lys916=)
n.317A=
6g.31950689A>CCA363408946CFBc.1695A>C (p.Lys565Asn)
c.3201A>C (p.Lys1067Asn)
n.821A>C
c.2748A>C (p.Lys916Asn)
n.317A>C
6g.31950689A>GCA3728433CFBc.1695A>G (p.Lys565=)
c.3201A>G (p.Lys1067=)
n.821A>G
c.2748A>G (p.Lys916=)
n.317A>G
dbSNP ExAC gnomAD
6g.31950689A>TCA363408949CFBc.1695A>T (p.Lys565Asn)
c.3201A>T (p.Lys1067Asn)
n.821A>T
c.2748A>T (p.Lys916Asn)
n.317A>T
6g.31950690G>ACA363408952CFBc.1696G>A (p.Glu566Lys)
c.3202G>A (p.Glu1068Lys)
n.822G>A
c.2749G>A (p.Glu917Lys)
n.318G>A
ClinVar
6g.31950690G>CCA363408954CFBc.1696G>C (p.Glu566Gln)
c.3202G>C (p.Glu1068Gln)
n.822G>C
c.2749G>C (p.Glu917Gln)
n.318G>C
6g.31950690G=CA1619378558CFBc.1696G= (p.Glu566=)
c.3202G= (p.Glu1068=)
n.822G=
c.2749G= (p.Glu917=)
n.318G=
6g.31950690G>TCA363408957CFBc.1696G>T (p.Glu566Ter)
c.3202G>T (p.Glu1068Ter)
n.822G>T
c.2749G>T (p.Glu917Ter)
n.318G>T
ClinVar gnomAD
6g.31950691A=CA1619378560CFBc.1697A= (p.Glu566=)
c.3203A= (p.Glu1068=)
n.823A=
c.2750A= (p.Glu917=)
n.319A=
6g.31950691A>CCA3728434CFBc.1697A>C (p.Glu566Ala)
c.3203A>C (p.Glu1068Ala)
n.823A>C
c.2750A>C (p.Glu917Ala)
n.319A>C
ClinVar dbSNP ExAC gnomAD
6g.31950691A>GCA363408960CFBc.1697A>G (p.Glu566Gly)
c.3203A>G (p.Glu1068Gly)
n.823A>G
c.2750A>G (p.Glu917Gly)
n.319A>G
6g.31950691A>TCA363408963CFBc.1697A>T (p.Glu566Val)
c.3203A>T (p.Glu1068Val)
n.823A>T
c.2750A>T (p.Glu917Val)
n.319A>T
6g.31950692A=CA1619378562CFBc.1698A= (p.Glu566=)
c.3204A= (p.Glu1068=)
n.824A=
c.2751A= (p.Glu917=)
n.320A=
6g.31950692A>CCA363408965CFBc.1698A>C (p.Glu566Asp)
c.3204A>C (p.Glu1068Asp)
n.824A>C
c.2751A>C (p.Glu917Asp)
n.320A>C
6g.31950692A>GCA449812124CFBc.1698A>G (p.Glu566=)
c.3204A>G (p.Glu1068=)
n.824A>G
c.2751A>G (p.Glu917=)
n.320A>G
gnomAD
6g.31950692A>TCA363408967CFBc.1698A>T (p.Glu566Asp)
c.3204A>T (p.Glu1068Asp)
n.824A>T
c.2751A>T (p.Glu917Asp)
n.320A>T
6g.31950693G>ACA363408971CFBc.1699G>A (p.Ala567Thr)
c.3205G>A (p.Ala1069Thr)
n.825G>A
c.2752G>A (p.Ala918Thr)
n.321G>A
gnomAD
6g.31950693G>CCA363408974CFBc.1699G>C (p.Ala567Pro)
c.3205G>C (p.Ala1069Pro)
n.825G>C
c.2752G>C (p.Ala918Pro)
n.321G>C
6g.31950693G=CA1619378564CFBc.1699G= (p.Ala567=)
c.3205G= (p.Ala1069=)
n.825G=
c.2752G= (p.Ala918=)
n.321G=
6g.31950693G>TCA363408969CFBc.1699G>T (p.Ala567Ser)
c.3205G>T (p.Ala1069Ser)
n.825G>T
c.2752G>T (p.Ala918Ser)
n.321G>T
6g.31950694C>ACA363408977CFBc.1700C>A (p.Ala567Glu)
c.3206C>A (p.Ala1069Glu)
n.826C>A
c.2753C>A (p.Ala918Glu)
n.322C>A
6g.31950694C=CA1619378566CFBc.1700C= (p.Ala567=)
c.3206C= (p.Ala1069=)
n.826C=
c.2753C= (p.Ala918=)
n.322C=
6g.31950694C>GCA363408978CFBc.1700C>G (p.Ala567Gly)
c.3206C>G (p.Ala1069Gly)
n.826C>G
c.2753C>G (p.Ala918Gly)
n.322C>G
gnomAD
6g.31950694C>TCA363408981CFBc.1700C>T (p.Ala567Val)
c.3206C>T (p.Ala1069Val)
n.826C>T
c.2753C>T (p.Ala918Val)
n.322C>T
6g.31950695A>CCA449812126CFBc.1701A>C (p.Ala567=)
c.3207A>C (p.Ala1069=)
n.827A>C
c.2754A>C (p.Ala918=)
n.323A>C
6g.31950695A>GCA449812128CFBc.1701A>G (p.Ala567=)
c.3207A>G (p.Ala1069=)
n.827A>G
c.2754A>G (p.Ala918=)
n.323A>G
6g.31950695A>TCA449812129CFBc.1701A>T (p.Ala567=)
c.3207A>T (p.Ala1069=)
n.827A>T
c.2754A>T (p.Ala918=)
n.323A>T
6g.31950696G>ACA363408983CFBc.1702G>A (p.Gly568Arg)
c.3208G>A (p.Gly1070Arg)
n.828G>A
c.2755G>A (p.Gly919Arg)
n.324G>A
6g.31950696G>CCA363408986CFBc.1702G>C (p.Gly568Arg)
c.3208G>C (p.Gly1070Arg)
n.828G>C
c.2755G>C (p.Gly919Arg)
n.324G>C
6g.31950696G=CA1619378567CFBc.1702G= (p.Gly568=)
c.3208G= (p.Gly1070=)
n.828G=
c.2755G= (p.Gly919=)
n.324G=
6g.31950696G>TCA363408988CFBc.1702G>T (p.Gly568Ter)
c.3208G>T (p.Gly1070Ter)
n.828G>T
c.2755G>T (p.Gly919Ter)
n.324G>T
6g.31950697G>ACA363408991CFBc.1703G>A (p.Gly568Glu)
c.3209G>A (p.Gly1070Glu)
n.829G>A
c.2756G>A (p.Gly919Glu)
n.325G>A
gnomAD
6g.31950697G>CCA363408993CFBc.1703G>C (p.Gly568Ala)
c.3209G>C (p.Gly1070Ala)
n.829G>C
c.2756G>C (p.Gly919Ala)
n.325G>C
6g.31950697G=CA1619378569CFBc.1703G= (p.Gly568=)
c.3209G= (p.Gly1070=)
n.829G=
c.2756G= (p.Gly919=)
n.325G=
6g.31950697G>TCA363408995CFBc.1703G>T (p.Gly568Val)
c.3209G>T (p.Gly1070Val)
n.829G>T
c.2756G>T (p.Gly919Val)
n.325G>T
6g.31950698A>CCA449812131CFBc.1704A>C (p.Gly568=)
c.3210A>C (p.Gly1070=)
n.830A>C
c.2757A>C (p.Gly919=)
n.326A>C
6g.31950698A>GCA449812132CFBc.1704A>G (p.Gly568=)
c.3210A>G (p.Gly1070=)
n.830A>G
c.2757A>G (p.Gly919=)
n.326A>G
6g.31950698A>TCA449812133CFBc.1704A>T (p.Gly568=)
c.3210A>T (p.Gly1070=)
n.830A>T
c.2757A>T (p.Gly919=)
n.326A>T
6g.31950699A=CA1619378570CFBc.1705A= (p.Ile569=)
c.3211A= (p.Ile1071=)
n.831A=
c.2758A= (p.Ile920=)
n.327A=
6g.31950699A>CCA363408997CFBc.1705A>C (p.Ile569Leu)
c.3211A>C (p.Ile1071Leu)
n.831A>C
c.2758A>C (p.Ile920Leu)
n.327A>C
gnomAD
6g.31950699A>GCA363409000CFBc.1705A>G (p.Ile569Val)
c.3211A>G (p.Ile1071Val)
n.831A>G
c.2758A>G (p.Ile920Val)
n.327A>G
6g.31950699A>TCA363409001CFBc.1705A>T (p.Ile569Phe)
c.3211A>T (p.Ile1071Phe)
n.831A>T
c.2758A>T (p.Ile920Phe)
n.327A>T

Number of alleles fetched