Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111401322A=CA2451697288DCXc.373T= (p.Tyr125=)
c.616T= (p.Tyr206=)
c.591T=
n.613T=
Xg.111401322A>CCA414246517DCXc.373T>G (p.Tyr125Asp)
c.616T>G (p.Tyr206Asp)
c.591T>G
n.613T>G
Xg.111401322A>GCA121594DCXc.373T>C (p.Tyr125His)
c.616T>C (p.Tyr206His)
c.591T>C
n.613T>C
ClinVar dbSNP
Xg.111401322A>TCA414246518DCXc.373T>A (p.Tyr125Asn)
c.616T>A (p.Tyr206Asn)
c.591T>A
n.613T>A
Xg.111401323G>ACA518114278DCXc.372C>T (p.Ser124=)
c.615C>T (p.Ser205=)
c.590C>T
n.612C>T
COSMIC COSMIC
Xg.111401323G>CCA414246519DCXc.372C>G (p.Ser124Arg)
c.615C>G (p.Ser205Arg)
c.590C>G
n.612C>G
Xg.111401323G>TCA414246520DCXc.372C>A (p.Ser124Arg)
c.615C>A (p.Ser205Arg)
c.590C>A
n.612C>A
gnomAD v4
Xg.111401324C>ACA414246521DCXc.371G>T (p.Ser124Ile)
c.614G>T (p.Ser205Ile)
c.589G>T
n.611G>T
Xg.111401324C>GCA414246522DCXc.371G>C (p.Ser124Thr)
c.614G>C (p.Ser205Thr)
c.589G>C
n.611G>C
Xg.111401324C>TCA414246523DCXc.371G>A (p.Ser124Asn)
c.614G>A (p.Ser205Asn)
c.589G>A
n.611G>A
gnomAD v4
Xg.111401325T>ACA414246524DCXc.370A>T (p.Ser124Cys)
c.613A>T (p.Ser205Cys)
c.588A>T
n.610A>T
Xg.111401325T>CCA414246525DCXc.370A>G (p.Ser124Gly)
c.613A>G (p.Ser205Gly)
c.588A>G
n.610A>G
Xg.111401325T>GCA414246526DCXc.370A>C (p.Ser124Arg)
c.613A>C (p.Ser205Arg)
c.588A>C
n.610A>C
Xg.111401326T>ACA414246527DCXc.369A>T (p.Glu123Asp)
c.612A>T (p.Glu204Asp)
c.587A>T
n.609A>T
Xg.111401326T>CCA518114279DCXc.369A>G (p.Glu123=)
c.612A>G (p.Glu204=)
c.587A>G
n.609A>G
Xg.111401326T>GCA414246528DCXc.369A>C (p.Glu123Asp)
c.612A>C (p.Glu204Asp)
c.587A>C
n.609A>C
Xg.111401327T>ACA414246531DCXc.368A>T (p.Glu123Val)
c.611A>T (p.Glu204Val)
c.586A>T
n.608A>T
Xg.111401327T>CCA414246530DCXc.368A>G (p.Glu123Gly)
c.611A>G (p.Glu204Gly)
c.586A>G
n.608A>G
Xg.111401327T>GCA414246529DCXc.368A>C (p.Glu123Ala)
c.611A>C (p.Glu204Ala)
c.586A>C
n.608A>C
Xg.111401327_111401328delinsTCCA2451697289DCXc.367_368delinsGA (p.Glu123=)
c.610_611delinsGA (p.Glu204=)
c.585_586delinsGA
n.607_608delinsGA
Xg.111401328C>ACA414246532DCXc.367G>T (p.Glu123Ter)
c.610G>T (p.Glu204Ter)
c.585G>T
n.607G>T
Xg.111401328C>GCA414246533DCXc.367G>C (p.Glu123Gln)
c.610G>C (p.Glu204Gln)
c.585G>C
n.607G>C
Xg.111401328C>TCA414246534DCXc.367G>A (p.Glu123Lys)
c.610G>A (p.Glu204Lys)
c.585G>A
n.607G>A
COSMIC COSMIC
Xg.111401331delCA171941DCXc.367del
c.610del
c.585del
n.607del
ClinVar dbSNP
Xg.111401329C>ACA518114280DCXc.366G>T (p.Gly122=)
c.609G>T (p.Gly203=)
c.584G>T
n.606G>T
dbSNP
Xg.111401329C=CA2451697290DCXc.366G= (p.Gly122=)
c.609G= (p.Gly203=)
c.584G=
n.606G=
Xg.111401329C>GCA518114281DCXc.366G>C (p.Gly122=)
c.609G>C (p.Gly203=)
c.584G>C
n.606G>C
Xg.111401329C>TCA10493326DCXc.366G>A (p.Gly122=)
c.609G>A (p.Gly203=)
c.584G>A
n.606G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111401330C>ACA414246535DCXc.365G>T (p.Gly122Val)
c.608G>T (p.Gly203Val)
c.583G>T
n.605G>T
Xg.111401330C>GCA414246536DCXc.365G>C (p.Gly122Ala)
c.608G>C (p.Gly203Ala)
c.583G>C
n.605G>C
Xg.111401330C>TCA414246537DCXc.365G>A (p.Gly122Glu)
c.608G>A (p.Gly203Glu)
c.583G>A
n.605G>A
Xg.111401331C>ACA414246538DCXc.365-1G>T (n.365-1G>T)
c.608-1G>T (n.608-1G>T)
c.583-1G>T
n.605-1G>T
ClinVar dbSNP
Xg.111401331C>GCA414246539DCXc.365-1G>C (n.365-1G>C)
c.608-1G>C (n.608-1G>C)
c.583-1G>C
n.605-1G>C
Xg.111401331C>TCA414246540DCXc.365-1G>A (n.365-1G>A)
c.608-1G>A (n.608-1G>A)
c.583-1G>A
n.605-1G>A
Xg.111401332T>ACA414246541DCXc.365-2A>T (n.365-2A>T)
c.608-2A>T (n.608-2A>T)
c.583-2A>T
n.605-2A>T
Xg.111401332T>CCA334420251DCXc.365-2A>G (n.365-2A>G)
c.608-2A>G (n.608-2A>G)
c.583-2A>G
n.605-2A>G
dbSNP
Xg.111401332T>GCA414246542DCXc.365-2A>C (n.365-2A>C)
c.608-2A>C (n.608-2A>C)
c.583-2A>C
n.605-2A>C
Xg.111401332T=CA2451697291DCXc.365-2A= (n.365-2A=)
c.608-2A= (n.608-2A=)
c.583-2A=
n.605-2A=
Xg.111401336G>ACA2579680620DCXc.365-6C>T (n.365-6C>T)
c.608-6C>T (n.608-6C>T)
c.583-6C>T
n.605-6C>T
Xg.111401337C>GCA2553723193DCXc.365-7G>C (n.365-7G>C)
c.608-7G>C (n.608-7G>C)
c.583-7G>C
n.605-7G>C
Xg.111401342A=CA2451697292DCXc.365-12T= (n.365-12T=)
c.608-12T= (n.608-12T=)
c.583-12T=
n.605-12T=
Xg.111401342A>CCA870061348DCXc.365-12T>G (n.365-12T>G)
c.608-12T>G (n.608-12T>G)
c.583-12T>G
n.605-12T>G
dbSNP
Xg.111401345A=CA2451697293DCXc.365-15T= (n.365-15T=)
c.608-15T= (n.608-15T=)
c.583-15T=
n.605-15T=
Xg.111401345_111401346insTCACTTCAACTTCCTTTTATCAAAATAGATGCTGAGCATCAATGTGCA10493327DCXc.365-16_365-15insCACATTGATGCTCAGCATCTATTTTGATAAAAGGAAGTTGAAGTGA (n.365-16_365-15insCACATTGATGCTCAGCATCTATTTTGATAAAAGGAAGTTGAAGTGA)
c.608-16_608-15insCACATTGATGCTCAGCATCTATTTTGATAAAAGGAAGTTGAAGTGA (n.608-16_608-15insCACATTGATGCTCAGCATCTATTTTGATAAAAGGAAGTTGAAGTGA)
c.583-16_583-15insCACATTGATGCTCAGCATCTATTTTGATAAAAGGAAGTTGAAGTGA
n.605-16_605-15insCACATTGATGCTCAGCATCTATTTTGATAAAAGGAAGTTGAAGTGA
dbSNP ExAC
Xg.111401346A>CCA2694473337DCXc.365-16T>G (n.365-16T>G)
c.608-16T>G (n.608-16T>G)
c.583-16T>G
n.605-16T>G
gnomAD v4
Xg.111401348T>ACA2535902810DCXc.365-18A>T (n.365-18A>T)
c.608-18A>T (n.608-18A>T)
c.583-18A>T
n.605-18A>T
Xg.111401348T>GCA10493328DCXc.365-18A>C (n.365-18A>C)
c.608-18A>C (n.608-18A>C)
c.583-18A>C
n.605-18A>C
dbSNP ExAC
Xg.111401348T=CA2451697294DCXc.365-18A= (n.365-18A=)
c.608-18A= (n.608-18A=)
c.583-18A=
n.605-18A=
Xg.111401348_111401352delCA2538891388DCXc.365-22_365-18del (n.365-22_365-18del)
c.608-22_608-18del (n.608-22_608-18del)
c.583-22_583-18del
n.605-22_605-18del
Xg.111401349G>TCA2504522542DCXc.365-19C>A (n.365-19C>A)
c.608-19C>A (n.608-19C>A)
c.583-19C>A
n.605-19C>A
gnomAD v4

Number of alleles fetched