Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125446297A=CA1491654909FAT4c.7204A= (p.Arg2402=)
c.1975A= (p.Arg659=)
c.2094-2A= (n.2094-2A=)
c.7200-2A= (n.7200-2A=)
n.187A=
4g.125446297A>CCA170766FAT4c.7204A>C (p.Arg2402=)
c.1975A>C (p.Arg659=)
c.2094-2A>C (n.2094-2A>C)
c.7200-2A>C (n.7200-2A>C)
n.187A>C
 ClinVar dbSNP
4g.125446297A>GCA3073135FAT4c.7204A>G (p.Arg2402Gly)
c.1975A>G (p.Arg659Gly)
c.2094-2A>G (n.2094-2A>G)
c.7200-2A>G (n.7200-2A>G)
n.187A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446297A>TCA358138022FAT4c.7204A>T (p.Arg2402Trp)
c.1975A>T (p.Arg659Trp)
c.2094-2A>T (n.2094-2A>T)
c.7200-2A>T (n.7200-2A>T)
n.187A>T
4g.125446298G>ACA358138026FAT4c.7205G>A (p.Arg2402Lys)
c.1976G>A (p.Arg659Lys)
c.2094-1G>A (n.2094-1G>A)
c.7200-1G>A (n.7200-1G>A)
n.188G>A
4g.125446298G>CCA358138028FAT4c.7205G>C (p.Arg2402Thr)
c.1976G>C (p.Arg659Thr)
c.2094-1G>C (n.2094-1G>C)
c.7200-1G>C (n.7200-1G>C)
n.188G>C
4g.125446298G>TCA358138031FAT4c.7205G>T (p.Arg2402Met)
c.1976G>T (p.Arg659Met)
c.2094-1G>T (n.2094-1G>T)
c.7200-1G>T (n.7200-1G>T)
n.188G>T
4g.125446299G>ACA441369829FAT4c.7206G>A (p.Arg2402=)
c.1977G>A (p.Arg659=)
c.2094G>A (p.Arg698=)
c.7200G>A (p.Arg2400=)
n.189G>A
 dbSNP
4g.125446299G>CCA358138039FAT4c.7206G>C (p.Arg2402Ser)
c.1977G>C (p.Arg659Ser)
c.2094G>C (p.Arg698Ser)
c.7200G>C (p.Arg2400Ser)
n.189G>C
4g.125446299G=CA1491654917FAT4c.7206G= (p.Arg2402=)
c.1977G= (p.Arg659=)
c.2094G= (p.Arg698=)
c.7200G= (p.Arg2400=)
n.189G=
4g.125446299G>TCA358138042FAT4c.7206G>T (p.Arg2402Ser)
c.1977G>T (p.Arg659Ser)
c.2094G>T (p.Arg698Ser)
c.7200G>T (p.Arg2400Ser)
n.189G>T
4g.125446300A=CA1491654924FAT4c.7207A= (p.Ile2403=)
c.1978A= (p.Ile660=)
c.2095A= (p.Ile699=)
c.7201A= (p.Ile2401=)
n.190A=
4g.125446300A>CCA358138045FAT4c.7207A>C (p.Ile2403Leu)
c.1978A>C (p.Ile660Leu)
c.2095A>C (p.Ile699Leu)
c.7201A>C (p.Ile2401Leu)
n.190A>C
4g.125446300A>GCA3073136FAT4c.7207A>G (p.Ile2403Val)
c.1978A>G (p.Ile660Val)
c.2095A>G (p.Ile699Val)
c.7201A>G (p.Ile2401Val)
n.190A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446300A>TCA358138047FAT4c.7207A>T (p.Ile2403Phe)
c.1978A>T (p.Ile660Phe)
c.2095A>T (p.Ile699Phe)
c.7201A>T (p.Ile2401Phe)
n.190A>T
4g.125446301T>ACA358138051FAT4c.7208T>A (p.Ile2403Asn)
c.1979T>A (p.Ile660Asn)
c.2096T>A (p.Ile699Asn)
c.7202T>A (p.Ile2401Asn)
n.191T>A
4g.125446301T>CCA358138054FAT4c.7208T>C (p.Ile2403Thr)
c.1979T>C (p.Ile660Thr)
c.2096T>C (p.Ile699Thr)
c.7202T>C (p.Ile2401Thr)
n.191T>C
4g.125446301T>GCA358138057FAT4c.7208T>G (p.Ile2403Ser)
c.1979T>G (p.Ile660Ser)
c.2096T>G (p.Ile699Ser)
c.7202T>G (p.Ile2401Ser)
n.191T>G
4g.125446302C>ACA441369834FAT4c.7209C>A (p.Ile2403=)
c.1980C>A (p.Ile660=)
c.2097C>A (p.Ile699=)
c.7203C>A (p.Ile2401=)
n.192C>A
4g.125446302C>GCA358138064FAT4c.7209C>G (p.Ile2403Met)
c.1980C>G (p.Ile660Met)
c.2097C>G (p.Ile699Met)
c.7203C>G (p.Ile2401Met)
n.192C>G
4g.125446302C>TCA441369835FAT4c.7209C>T (p.Ile2403=)
c.1980C>T (p.Ile660=)
c.2097C>T (p.Ile699=)
c.7203C>T (p.Ile2401=)
n.192C>T
 COSMIC COSMIC
4g.125446307_125446338delCA2707132472FAT4c.7214_7245del (p.Gly2405AspfsTer12)
c.1985_2016del (p.Gly662AspfsTer12)
c.2102_2133del (p.Gly701AspfsTer12)
c.7208_7239del (p.Gly2403AspfsTer12)
n.197_228del
 dbSNP
4g.125446303A>CCA358138067FAT4c.7210A>C (p.Ile2404Leu)
c.1981A>C (p.Ile661Leu)
c.2098A>C (p.Ile700Leu)
c.7204A>C (p.Ile2402Leu)
n.193A>C
 gnomAD v4
4g.125446303A>GCA358138071FAT4c.7210A>G (p.Ile2404Val)
c.1981A>G (p.Ile661Val)
c.2098A>G (p.Ile700Val)
c.7204A>G (p.Ile2402Val)
n.193A>G
4g.125446303A>TCA358138070FAT4c.7210A>T (p.Ile2404Phe)
c.1981A>T (p.Ile661Phe)
c.2098A>T (p.Ile700Phe)
c.7204A>T (p.Ile2402Phe)
n.193A>T
4g.125446304T>ACA358138072FAT4c.7211T>A (p.Ile2404Asn)
c.1982T>A (p.Ile661Asn)
c.2099T>A (p.Ile700Asn)
c.7205T>A (p.Ile2402Asn)
n.194T>A
4g.125446304T>CCA358138073FAT4c.7211T>C (p.Ile2404Thr)
c.1982T>C (p.Ile661Thr)
c.2099T>C (p.Ile700Thr)
c.7205T>C (p.Ile2402Thr)
n.194T>C
4g.125446304T>GCA358138076FAT4c.7211T>G (p.Ile2404Ser)
c.1982T>G (p.Ile661Ser)
c.2099T>G (p.Ile700Ser)
c.7205T>G (p.Ile2402Ser)
n.194T>G
4g.125446305C>ACA441369842FAT4c.7212C>A (p.Ile2404=)
c.1983C>A (p.Ile661=)
c.2100C>A (p.Ile700=)
c.7206C>A (p.Ile2402=)
n.195C>A
4g.125446305C=CA1491654930FAT4c.7212C= (p.Ile2404=)
c.1983C= (p.Ile661=)
c.2100C= (p.Ile700=)
c.7206C= (p.Ile2402=)
n.195C=
4g.125446305C>GCA358138081FAT4c.7212C>G (p.Ile2404Met)
c.1983C>G (p.Ile661Met)
c.2100C>G (p.Ile700Met)
c.7206C>G (p.Ile2402Met)
n.195C>G
4g.125446305C>TCA3073137FAT4c.7212C>T (p.Ile2404=)
c.1983C>T (p.Ile661=)
c.2100C>T (p.Ile700=)
c.7206C>T (p.Ile2402=)
n.195C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125446306G>ACA104877872FAT4c.7213G>A (p.Gly2405Ser)
c.1984G>A (p.Gly662Ser)
c.2101G>A (p.Gly701Ser)
c.7207G>A (p.Gly2403Ser)
n.196G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
4g.125446306G>CCA358138085FAT4c.7213G>C (p.Gly2405Arg)
c.1984G>C (p.Gly662Arg)
c.2101G>C (p.Gly701Arg)
c.7207G>C (p.Gly2403Arg)
n.196G>C
 dbSNP gnomAD v4
4g.125446306G=CA1491654938FAT4c.7213G= (p.Gly2405=)
c.1984G= (p.Gly662=)
c.2101G= (p.Gly701=)
c.7207G= (p.Gly2403=)
n.196G=
4g.125446306G>TCA358138087FAT4c.7213G>T (p.Gly2405Cys)
c.1984G>T (p.Gly662Cys)
c.2101G>T (p.Gly701Cys)
c.7207G>T (p.Gly2403Cys)
n.196G>T
4g.125446307G>ACA358138091FAT4c.7214G>A (p.Gly2405Asp)
c.1985G>A (p.Gly662Asp)
c.2102G>A (p.Gly701Asp)
c.7208G>A (p.Gly2403Asp)
n.197G>A
 gnomAD v4
4g.125446307G>CCA358138093FAT4c.7214G>C (p.Gly2405Ala)
c.1985G>C (p.Gly662Ala)
c.2102G>C (p.Gly701Ala)
c.7208G>C (p.Gly2403Ala)
n.197G>C
4g.125446307G>TCA358138096FAT4c.7214G>T (p.Gly2405Val)
c.1985G>T (p.Gly662Val)
c.2102G>T (p.Gly701Val)
c.7208G>T (p.Gly2403Val)
n.197G>T
4g.125446308T>ACA441369850FAT4c.7215T>A (p.Gly2405=)
c.1986T>A (p.Gly662=)
c.2103T>A (p.Gly701=)
c.7209T>A (p.Gly2403=)
n.198T>A
4g.125446308T>CCA441369852FAT4c.7215T>C (p.Gly2405=)
c.1986T>C (p.Gly662=)
c.2103T>C (p.Gly701=)
c.7209T>C (p.Gly2403=)
n.198T>C
4g.125446308T>GCA441369853FAT4c.7215T>G (p.Gly2405=)
c.1986T>G (p.Gly662=)
c.2103T>G (p.Gly701=)
c.7209T>G (p.Gly2403=)
n.198T>G
4g.125446309G>ACA358138105FAT4c.7216G>A (p.Gly2406Arg)
c.1987G>A (p.Gly663Arg)
c.2104G>A (p.Gly702Arg)
c.7210G>A (p.Gly2404Arg)
n.199G>A
4g.125446309G>CCA358138102FAT4c.7216G>C (p.Gly2406Arg)
c.1987G>C (p.Gly663Arg)
c.2104G>C (p.Gly702Arg)
c.7210G>C (p.Gly2404Arg)
n.199G>C
4g.125446309G>TCA358138099FAT4c.7216G>T (p.Gly2406Ter)
c.1987G>T (p.Gly663Ter)
c.2104G>T (p.Gly702Ter)
c.7210G>T (p.Gly2404Ter)
n.199G>T
4g.125446310G>ACA358138106FAT4c.7217G>A (p.Gly2406Glu)
c.1988G>A (p.Gly663Glu)
c.2105G>A (p.Gly702Glu)
c.7211G>A (p.Gly2404Glu)
n.200G>A
4g.125446310G>CCA358138109FAT4c.7217G>C (p.Gly2406Ala)
c.1988G>C (p.Gly663Ala)
c.2105G>C (p.Gly702Ala)
c.7211G>C (p.Gly2404Ala)
n.200G>C
4g.125446310G>TCA358138112FAT4c.7217G>T (p.Gly2406Val)
c.1988G>T (p.Gly663Val)
c.2105G>T (p.Gly702Val)
c.7211G>T (p.Gly2404Val)
n.200G>T
4g.125446311A=CA1491654944FAT4c.7218A= (p.Gly2406=)
c.1989A= (p.Gly663=)
c.2106A= (p.Gly702=)
c.7212A= (p.Gly2404=)
n.201A=
4g.125446311A>CCA441369867FAT4c.7218A>C (p.Gly2406=)
c.1989A>C (p.Gly663=)
c.2106A>C (p.Gly702=)
c.7212A>C (p.Gly2404=)
n.201A>C
4g.125446311A>GCA441369868FAT4c.7218A>G (p.Gly2406=)
c.1989A>G (p.Gly663=)
c.2106A>G (p.Gly702=)
c.7212A>G (p.Gly2404=)
n.201A>G
 dbSNP gnomAD v2 gnomAD v4
4g.125446311A>TCA441369870FAT4c.7218A>T (p.Gly2406=)
c.1989A>T (p.Gly663=)
c.2106A>T (p.Gly702=)
c.7212A>T (p.Gly2404=)
n.201A>T
4g.125446312A>CCA358138115FAT4c.7219A>C (p.Asn2407His)
c.1990A>C (p.Asn664His)
c.2107A>C (p.Asn703His)
c.7213A>C (p.Asn2405His)
n.202A>C
4g.125446312A>GCA358138123FAT4c.7219A>G (p.Asn2407Asp)
c.1990A>G (p.Asn664Asp)
c.2107A>G (p.Asn703Asp)
c.7213A>G (p.Asn2405Asp)
n.202A>G
4g.125446312A>TCA358138126FAT4c.7219A>T (p.Asn2407Tyr)
c.1990A>T (p.Asn664Tyr)
c.2107A>T (p.Asn703Tyr)
c.7213A>T (p.Asn2405Tyr)
n.202A>T
4g.125446313A=CA1491654948FAT4c.7220A= (p.Asn2407=)
c.1991A= (p.Asn664=)
c.2108A= (p.Asn703=)
c.7214A= (p.Asn2405=)
n.203A=
4g.125446313A>CCA358138131FAT4c.7220A>C (p.Asn2407Thr)
c.1991A>C (p.Asn664Thr)
c.2108A>C (p.Asn703Thr)
c.7214A>C (p.Asn2405Thr)
n.203A>C
4g.125446313A>GCA358138129FAT4c.7220A>G (p.Asn2407Ser)
c.1991A>G (p.Asn664Ser)
c.2108A>G (p.Asn703Ser)
c.7214A>G (p.Asn2405Ser)
n.203A>G
4g.125446313A>TCA3073138FAT4c.7220A>T (p.Asn2407Ile)
c.1991A>T (p.Asn664Ile)
c.2108A>T (p.Asn703Ile)
c.7214A>T (p.Asn2405Ile)
n.203A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446314C>ACA358138134FAT4c.7221C>A (p.Asn2407Lys)
c.1992C>A (p.Asn664Lys)
c.2109C>A (p.Asn703Lys)
c.7215C>A (p.Asn2405Lys)
n.204C>A
4g.125446314C=CA1491654953FAT4c.7221C= (p.Asn2407=)
c.1992C= (p.Asn664=)
c.2109C= (p.Asn703=)
c.7215C= (p.Asn2405=)
n.204C=
4g.125446314C>GCA358138143FAT4c.7221C>G (p.Asn2407Lys)
c.1992C>G (p.Asn664Lys)
c.2109C>G (p.Asn703Lys)
c.7215C>G (p.Asn2405Lys)
n.204C>G
4g.125446314C>TCA3073139FAT4c.7221C>T (p.Asn2407=)
c.1992C>T (p.Asn664=)
c.2109C>T (p.Asn703=)
c.7215C>T (p.Asn2405=)
n.204C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125446317_125446318delCA2578191113FAT4c.7224_7225del (p.Gln2409ValfsTer18)
c.1995_1996del (p.Gln666ValfsTer18)
c.2112_2113del (p.Gln705ValfsTer18)
c.7218_7219del (p.Gln2407ValfsTer18)
n.207_208del
4g.125446315T>ACA358138148FAT4c.7222T>A (p.Ser2408Thr)
c.1993T>A (p.Ser665Thr)
c.2110T>A (p.Ser704Thr)
c.7216T>A (p.Ser2406Thr)
n.205T>A
4g.125446315T>CCA358138151FAT4c.7222T>C (p.Ser2408Pro)
c.1993T>C (p.Ser665Pro)
c.2110T>C (p.Ser704Pro)
c.7216T>C (p.Ser2406Pro)
n.205T>C
4g.125446315T>GCA3073140FAT4c.7222T>G (p.Ser2408Ala)
c.1993T>G (p.Ser665Ala)
c.2110T>G (p.Ser704Ala)
c.7216T>G (p.Ser2406Ala)
n.205T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446315T=CA1491654957FAT4c.7222T= (p.Ser2408=)
c.1993T= (p.Ser665=)
c.2110T= (p.Ser704=)
c.7216T= (p.Ser2406=)
n.205T=
4g.125446316C>ACA358138157FAT4c.7223C>A (p.Ser2408Tyr)
c.1994C>A (p.Ser665Tyr)
c.2111C>A (p.Ser704Tyr)
c.7217C>A (p.Ser2406Tyr)
n.206C>A
4g.125446316C=CA1491654959FAT4c.7223C= (p.Ser2408=)
c.1994C= (p.Ser665=)
c.2111C= (p.Ser704=)
c.7217C= (p.Ser2406=)
n.206C=
4g.125446316C>GCA358138162FAT4c.7223C>G (p.Ser2408Cys)
c.1994C>G (p.Ser665Cys)
c.2111C>G (p.Ser704Cys)
c.7217C>G (p.Ser2406Cys)
n.206C>G
4g.125446316C>TCA358138159FAT4c.7223C>T (p.Ser2408Phe)
c.1994C>T (p.Ser665Phe)
c.2111C>T (p.Ser704Phe)
c.7217C>T (p.Ser2406Phe)
n.206C>T
 dbSNP gnomAD v2 gnomAD v4
4g.125446317T>ACA441369886FAT4c.7224T>A (p.Ser2408=)
c.1995T>A (p.Ser665=)
c.2112T>A (p.Ser704=)
c.7218T>A (p.Ser2406=)
n.207T>A
4g.125446317T>CCA441369884FAT4c.7224T>C (p.Ser2408=)
c.1995T>C (p.Ser665=)
c.2112T>C (p.Ser704=)
c.7218T>C (p.Ser2406=)
n.207T>C
 gnomAD v4
4g.125446317T>GCA441369885FAT4c.7224T>G (p.Ser2408=)
c.1995T>G (p.Ser665=)
c.2112T>G (p.Ser704=)
c.7218T>G (p.Ser2406=)
n.207T>G
 gnomAD v4
4g.125446318C>ACA358138165FAT4c.7225C>A (p.Gln2409Lys)
c.1996C>A (p.Gln666Lys)
c.2113C>A (p.Gln705Lys)
c.7219C>A (p.Gln2407Lys)
n.208C>A
4g.125446318C>GCA358138167FAT4c.7225C>G (p.Gln2409Glu)
c.1996C>G (p.Gln666Glu)
c.2113C>G (p.Gln705Glu)
c.7219C>G (p.Gln2407Glu)
n.208C>G
4g.125446318C>TCA358138170FAT4c.7225C>T (p.Gln2409Ter)
c.1996C>T (p.Gln666Ter)
c.2113C>T (p.Gln705Ter)
c.7219C>T (p.Gln2407Ter)
n.208C>T
 gnomAD v4
4g.125446319A>CCA358138174FAT4c.7226A>C (p.Gln2409Pro)
c.1997A>C (p.Gln666Pro)
c.2114A>C (p.Gln705Pro)
c.7220A>C (p.Gln2407Pro)
n.209A>C
4g.125446319A>GCA358138175FAT4c.7226A>G (p.Gln2409Arg)
c.1997A>G (p.Gln666Arg)
c.2114A>G (p.Gln705Arg)
c.7220A>G (p.Gln2407Arg)
n.209A>G
4g.125446319A>TCA358138179FAT4c.7226A>T (p.Gln2409Leu)
c.1997A>T (p.Gln666Leu)
c.2114A>T (p.Gln705Leu)
c.7220A>T (p.Gln2407Leu)
n.209A>T
4g.125446320G>ACA441369889FAT4c.7227G>A (p.Gln2409=)
c.1998G>A (p.Gln666=)
c.2115G>A (p.Gln705=)
c.7221G>A (p.Gln2407=)
n.210G>A
4g.125446320G>CCA358138182FAT4c.7227G>C (p.Gln2409His)
c.1998G>C (p.Gln666His)
c.2115G>C (p.Gln705His)
c.7221G>C (p.Gln2407His)
n.210G>C
4g.125446320G>TCA358138185FAT4c.7227G>T (p.Gln2409His)
c.1998G>T (p.Gln666His)
c.2115G>T (p.Gln705His)
c.7221G>T (p.Gln2407His)
n.210G>T
4g.125446321T>ACA358138188FAT4c.7228T>A (p.Phe2410Ile)
c.1999T>A (p.Phe667Ile)
c.2116T>A (p.Phe706Ile)
c.7222T>A (p.Phe2408Ile)
n.211T>A
4g.125446321T>CCA358138190FAT4c.7228T>C (p.Phe2410Leu)
c.1999T>C (p.Phe667Leu)
c.2116T>C (p.Phe706Leu)
c.7222T>C (p.Phe2408Leu)
n.211T>C
4g.125446321T>GCA358138191FAT4c.7228T>G (p.Phe2410Val)
c.1999T>G (p.Phe667Val)
c.2116T>G (p.Phe706Val)
c.7222T>G (p.Phe2408Val)
n.211T>G
4g.125446322T>ACA358138194FAT4c.7229T>A (p.Phe2410Tyr)
c.2000T>A (p.Phe667Tyr)
c.2117T>A (p.Phe706Tyr)
c.7223T>A (p.Phe2408Tyr)
n.212T>A
4g.125446322T>CCA358138200FAT4c.7229T>C (p.Phe2410Ser)
c.2000T>C (p.Phe667Ser)
c.2117T>C (p.Phe706Ser)
c.7223T>C (p.Phe2408Ser)
n.212T>C
4g.125446322T>GCA358138197FAT4c.7229T>G (p.Phe2410Cys)
c.2000T>G (p.Phe667Cys)
c.2117T>G (p.Phe706Cys)
c.7223T>G (p.Phe2408Cys)
n.212T>G
4g.125446323C>ACA358138203FAT4c.7230C>A (p.Phe2410Leu)
c.2001C>A (p.Phe667Leu)
c.2118C>A (p.Phe706Leu)
c.7224C>A (p.Phe2408Leu)
n.213C>A
4g.125446323C>GCA358138204FAT4c.7230C>G (p.Phe2410Leu)
c.2001C>G (p.Phe667Leu)
c.2118C>G (p.Phe706Leu)
c.7224C>G (p.Phe2408Leu)
n.213C>G
4g.125446323C>TCA441369893FAT4c.7230C>T (p.Phe2410=)
c.2001C>T (p.Phe667=)
c.2118C>T (p.Phe706=)
c.7224C>T (p.Phe2408=)
n.213C>T
4g.125446324A=CA1491654970FAT4c.7231A= (p.Thr2411=)
c.2002A= (p.Thr668=)
c.2119A= (p.Thr707=)
c.7225A= (p.Thr2409=)
n.214A=
4g.125446324A>CCA358138216FAT4c.7231A>C (p.Thr2411Pro)
c.2002A>C (p.Thr668Pro)
c.2119A>C (p.Thr707Pro)
c.7225A>C (p.Thr2409Pro)
n.214A>C
4g.125446324A>GCA358138220FAT4c.7231A>G (p.Thr2411Ala)
c.2002A>G (p.Thr668Ala)
c.2119A>G (p.Thr707Ala)
c.7225A>G (p.Thr2409Ala)
n.214A>G
4g.125446324A>TCA3073141FAT4c.7231A>T (p.Thr2411Ser)
c.2002A>T (p.Thr668Ser)
c.2119A>T (p.Thr707Ser)
c.7225A>T (p.Thr2409Ser)
n.214A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446325C>ACA358138222FAT4c.7232C>A (p.Thr2411Lys)
c.2003C>A (p.Thr668Lys)
c.2120C>A (p.Thr707Lys)
c.7226C>A (p.Thr2409Lys)
n.215C>A
4g.125446325C=CA1491654975FAT4c.7232C= (p.Thr2411=)
c.2003C= (p.Thr668=)
c.2120C= (p.Thr707=)
c.7226C= (p.Thr2409=)
n.215C=
4g.125446325C>GCA358138225FAT4c.7232C>G (p.Thr2411Arg)
c.2003C>G (p.Thr668Arg)
c.2120C>G (p.Thr707Arg)
c.7226C>G (p.Thr2409Arg)
n.215C>G
4g.125446325C>TCA3073142FAT4c.7232C>T (p.Thr2411Met)
c.2003C>T (p.Thr668Met)
c.2120C>T (p.Thr707Met)
c.7226C>T (p.Thr2409Met)
n.215C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125446326G>ACA3073144FAT4c.7233G>A (p.Thr2411=)
c.2004G>A (p.Thr668=)
c.2121G>A (p.Thr707=)
c.7227G>A (p.Thr2409=)
n.216G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125446326G>CCA3073145FAT4c.7233G>C (p.Thr2411=)
c.2004G>C (p.Thr668=)
c.2121G>C (p.Thr707=)
c.7227G>C (p.Thr2409=)
n.216G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446326G=CA1491654983FAT4c.7233G= (p.Thr2411=)
c.2004G= (p.Thr668=)
c.2121G= (p.Thr707=)
c.7227G= (p.Thr2409=)
n.216G=
4g.125446326G>TCA3073143FAT4c.7233G>T (p.Thr2411=)
c.2004G>T (p.Thr668=)
c.2121G>T (p.Thr707=)
c.7227G>T (p.Thr2409=)
n.216G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446327A>CCA358138234FAT4c.7234A>C (p.Ile2412Leu)
c.2005A>C (p.Ile669Leu)
c.2122A>C (p.Ile708Leu)
c.7228A>C (p.Ile2410Leu)
n.217A>C
 gnomAD v4
4g.125446327A>GCA358138242FAT4c.7234A>G (p.Ile2412Val)
c.2005A>G (p.Ile669Val)
c.2122A>G (p.Ile708Val)
c.7228A>G (p.Ile2410Val)
n.217A>G
4g.125446327A>TCA358138245FAT4c.7234A>T (p.Ile2412Phe)
c.2005A>T (p.Ile669Phe)
c.2122A>T (p.Ile708Phe)
c.7228A>T (p.Ile2410Phe)
n.217A>T
4g.125446328T>ACA358138249FAT4c.7235T>A (p.Ile2412Asn)
c.2006T>A (p.Ile669Asn)
c.2123T>A (p.Ile708Asn)
c.7229T>A (p.Ile2410Asn)
n.218T>A
4g.125446328T>CCA358138252FAT4c.7235T>C (p.Ile2412Thr)
c.2006T>C (p.Ile669Thr)
c.2123T>C (p.Ile708Thr)
c.7229T>C (p.Ile2410Thr)
n.218T>C
 gnomAD v4
4g.125446328T>GCA358138253FAT4c.7235T>G (p.Ile2412Ser)
c.2006T>G (p.Ile669Ser)
c.2123T>G (p.Ile708Ser)
c.7229T>G (p.Ile2410Ser)
n.218T>G
4g.125446329C>ACA441369904FAT4c.7236C>A (p.Ile2412=)
c.2007C>A (p.Ile669=)
c.2124C>A (p.Ile708=)
c.7230C>A (p.Ile2410=)
n.219C>A
4g.125446329C>GCA358138256FAT4c.7236C>G (p.Ile2412Met)
c.2007C>G (p.Ile669Met)
c.2124C>G (p.Ile708Met)
c.7230C>G (p.Ile2410Met)
n.219C>G
4g.125446329C>TCA441369905FAT4c.7236C>T (p.Ile2412=)
c.2007C>T (p.Ile669=)
c.2124C>T (p.Ile708=)
c.7230C>T (p.Ile2410=)
n.219C>T
4g.125446330A>CCA358138259FAT4c.7237A>C (p.Asn2413His)
c.2008A>C (p.Asn670His)
c.2125A>C (p.Asn709His)
c.7231A>C (p.Asn2411His)
n.220A>C
4g.125446330A>GCA358138260FAT4c.7237A>G (p.Asn2413Asp)
c.2008A>G (p.Asn670Asp)
c.2125A>G (p.Asn709Asp)
c.7231A>G (p.Asn2411Asp)
n.220A>G
4g.125446330A>TCA358138262FAT4c.7237A>T (p.Asn2413Tyr)
c.2008A>T (p.Asn670Tyr)
c.2125A>T (p.Asn709Tyr)
c.7231A>T (p.Asn2411Tyr)
n.220A>T
4g.125446331A=CA1491654990FAT4c.7238A= (p.Asn2413=)
c.2009A= (p.Asn670=)
c.2126A= (p.Asn709=)
c.7232A= (p.Asn2411=)
n.221A=
4g.125446331A>CCA358138267FAT4c.7238A>C (p.Asn2413Thr)
c.2009A>C (p.Asn670Thr)
c.2126A>C (p.Asn709Thr)
c.7232A>C (p.Asn2411Thr)
n.221A>C
4g.125446331A>GCA104877888FAT4c.7238A>G (p.Asn2413Ser)
c.2009A>G (p.Asn670Ser)
c.2126A>G (p.Asn709Ser)
c.7232A>G (p.Asn2411Ser)
n.221A>G
 dbSNP gnomAD v4
4g.125446331A>TCA358138271FAT4c.7238A>T (p.Asn2413Ile)
c.2009A>T (p.Asn670Ile)
c.2126A>T (p.Asn709Ile)
c.7232A>T (p.Asn2411Ile)
n.221A>T
4g.125446332C>ACA358138272FAT4c.7239C>A (p.Asn2413Lys)
c.2010C>A (p.Asn670Lys)
c.2127C>A (p.Asn709Lys)
c.7233C>A (p.Asn2411Lys)
n.222C>A
 gnomAD v4
4g.125446332C>GCA358138275FAT4c.7239C>G (p.Asn2413Lys)
c.2010C>G (p.Asn670Lys)
c.2127C>G (p.Asn709Lys)
c.7233C>G (p.Asn2411Lys)
n.222C>G
4g.125446332C>TCA441369907FAT4c.7239C>T (p.Asn2413=)
c.2010C>T (p.Asn670=)
c.2127C>T (p.Asn709=)
c.7233C>T (p.Asn2411=)
n.222C>T
4g.125446333C>ACA3073146FAT4c.7240C>A (p.Pro2414Thr)
c.2011C>A (p.Pro671Thr)
c.2128C>A (p.Pro710Thr)
c.7234C>A (p.Pro2412Thr)
n.223C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446333C=CA1491654994FAT4c.7240C= (p.Pro2414=)
c.2011C= (p.Pro671=)
c.2128C= (p.Pro710=)
c.7234C= (p.Pro2412=)
n.223C=
4g.125446333C>GCA358138280FAT4c.7240C>G (p.Pro2414Ala)
c.2011C>G (p.Pro671Ala)
c.2128C>G (p.Pro710Ala)
c.7234C>G (p.Pro2412Ala)
n.223C>G
 ClinVar
4g.125446333C>TCA358138282FAT4c.7240C>T (p.Pro2414Ser)
c.2011C>T (p.Pro671Ser)
c.2128C>T (p.Pro710Ser)
c.7234C>T (p.Pro2412Ser)
n.223C>T
 dbSNP gnomAD v3 gnomAD v4
4g.125446334C>ACA358138284FAT4c.7241C>A (p.Pro2414Gln)
c.2012C>A (p.Pro671Gln)
c.2129C>A (p.Pro710Gln)
c.7235C>A (p.Pro2412Gln)
n.224C>A
4g.125446334C>GCA358138287FAT4c.7241C>G (p.Pro2414Arg)
c.2012C>G (p.Pro671Arg)
c.2129C>G (p.Pro710Arg)
c.7235C>G (p.Pro2412Arg)
n.224C>G
4g.125446334C>TCA358138289FAT4c.7241C>T (p.Pro2414Leu)
c.2012C>T (p.Pro671Leu)
c.2129C>T (p.Pro710Leu)
c.7235C>T (p.Pro2412Leu)
n.224C>T
 ClinVar
4g.125446335A=CA1491654999FAT4c.7242A= (p.Pro2414=)
c.2013A= (p.Pro671=)
c.2130A= (p.Pro710=)
c.7236A= (p.Pro2412=)
n.225A=
4g.125446335A>CCA441369914FAT4c.7242A>C (p.Pro2414=)
c.2013A>C (p.Pro671=)
c.2130A>C (p.Pro710=)
c.7236A>C (p.Pro2412=)
n.225A>C
 gnomAD v4
4g.125446335A>GCA441369913FAT4c.7242A>G (p.Pro2414=)
c.2013A>G (p.Pro671=)
c.2130A>G (p.Pro710=)
c.7236A>G (p.Pro2412=)
n.225A>G
 dbSNP gnomAD v3 gnomAD v4
4g.125446335A>TCA441369912FAT4c.7242A>T (p.Pro2414=)
c.2013A>T (p.Pro671=)
c.2130A>T (p.Pro710=)
c.7236A>T (p.Pro2412=)
n.225A>T
4g.125446336T>ACA358138292FAT4c.7243T>A (p.Ser2415Thr)
c.2014T>A (p.Ser672Thr)
c.2131T>A (p.Ser711Thr)
c.7237T>A (p.Ser2413Thr)
n.226T>A
4g.125446336T>CCA358138297FAT4c.7243T>C (p.Ser2415Pro)
c.2014T>C (p.Ser672Pro)
c.2131T>C (p.Ser711Pro)
c.7237T>C (p.Ser2413Pro)
n.226T>C
4g.125446336T>GCA358138295FAT4c.7243T>G (p.Ser2415Ala)
c.2014T>G (p.Ser672Ala)
c.2131T>G (p.Ser711Ala)
c.7237T>G (p.Ser2413Ala)
n.226T>G
4g.125446337C>ACA358138300FAT4c.7244C>A (p.Ser2415Ter)
c.2015C>A (p.Ser672Ter)
c.2132C>A (p.Ser711Ter)
c.7238C>A (p.Ser2413Ter)
n.227C>A
4g.125446337C=CA1491655003FAT4c.7244C= (p.Ser2415=)
c.2015C= (p.Ser672=)
c.2132C= (p.Ser711=)
c.7238C= (p.Ser2413=)
n.227C=
4g.125446337C>GCA358138302FAT4c.7244C>G (p.Ser2415Trp)
c.2015C>G (p.Ser672Trp)
c.2132C>G (p.Ser711Trp)
c.7238C>G (p.Ser2413Trp)
n.227C>G
4g.125446337C>TCA3073147FAT4c.7244C>T (p.Ser2415Leu)
c.2015C>T (p.Ser672Leu)
c.2132C>T (p.Ser711Leu)
c.7238C>T (p.Ser2413Leu)
n.227C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125446338G>ACA3073148FAT4c.7245G>A (p.Ser2415=)
c.2016G>A (p.Ser672=)
c.2133G>A (p.Ser711=)
c.7239G>A (p.Ser2413=)
n.228G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125446338G>CCA441369916FAT4c.7245G>C (p.Ser2415=)
c.2016G>C (p.Ser672=)
c.2133G>C (p.Ser711=)
c.7239G>C (p.Ser2413=)
n.228G>C
4g.125446338G=CA1491655006FAT4c.7245G= (p.Ser2415=)
c.2016G= (p.Ser672=)
c.2133G= (p.Ser711=)
c.7239G= (p.Ser2413=)
n.228G=
4g.125446338G>TCA441369918FAT4c.7245G>T (p.Ser2415=)
c.2016G>T (p.Ser672=)
c.2133G>T (p.Ser711=)
c.7239G>T (p.Ser2413=)
n.228G>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
4g.125446339A>CCA358138313FAT4c.7246A>C (p.Thr2416Pro)
c.2017A>C (p.Thr673Pro)
c.2134A>C (p.Thr712Pro)
c.7240A>C (p.Thr2414Pro)
n.229A>C
4g.125446339A>GCA358138316FAT4c.7246A>G (p.Thr2416Ala)
c.2017A>G (p.Thr673Ala)
c.2134A>G (p.Thr712Ala)
c.7240A>G (p.Thr2414Ala)
n.229A>G
4g.125446339A>TCA358138319FAT4c.7246A>T (p.Thr2416Ser)
c.2017A>T (p.Thr673Ser)
c.2134A>T (p.Thr712Ser)
c.7240A>T (p.Thr2414Ser)
n.229A>T
4g.125446340C>ACA358138320FAT4c.7247C>A (p.Thr2416Lys)
c.2018C>A (p.Thr673Lys)
c.2135C>A (p.Thr712Lys)
c.7241C>A (p.Thr2414Lys)
n.230C>A
4g.125446340C=CA1491655012FAT4c.7247C= (p.Thr2416=)
c.2018C= (p.Thr673=)
c.2135C= (p.Thr712=)
c.7241C= (p.Thr2414=)
n.230C=
4g.125446340C>GCA358138321FAT4c.7247C>G (p.Thr2416Arg)
c.2018C>G (p.Thr673Arg)
c.2135C>G (p.Thr712Arg)
c.7241C>G (p.Thr2414Arg)
n.230C>G
 dbSNP gnomAD v3 gnomAD v4
4g.125446340C>TCA358138323FAT4c.7247C>T (p.Thr2416Ile)
c.2018C>T (p.Thr673Ile)
c.2135C>T (p.Thr712Ile)
c.7241C>T (p.Thr2414Ile)
n.230C>T
4g.125446341A=CA1491655018FAT4c.7248A= (p.Thr2416=)
c.2019A= (p.Thr673=)
c.2136A= (p.Thr712=)
c.7242A= (p.Thr2414=)
n.231A=
4g.125446341A>CCA441369921FAT4c.7248A>C (p.Thr2416=)
c.2019A>C (p.Thr673=)
c.2136A>C (p.Thr712=)
c.7242A>C (p.Thr2414=)
n.231A>C
4g.125446341A>GCA3073149FAT4c.7248A>G (p.Thr2416=)
c.2019A>G (p.Thr673=)
c.2136A>G (p.Thr712=)
c.7242A>G (p.Thr2414=)
n.231A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125446341A>TCA441369920FAT4c.7248A>T (p.Thr2416=)
c.2019A>T (p.Thr673=)
c.2136A>T (p.Thr712=)
c.7242A>T (p.Thr2414=)
n.231A>T
4g.125446342G>ACA358138337FAT4c.7249G>A (p.Gly2417Arg)
c.2020G>A (p.Gly674Arg)
c.2137G>A (p.Gly713Arg)
c.7243G>A (p.Gly2415Arg)
n.232G>A
4g.125446342G>CCA358138333FAT4c.7249G>C (p.Gly2417Arg)
c.2020G>C (p.Gly674Arg)
c.2137G>C (p.Gly713Arg)
c.7243G>C (p.Gly2415Arg)
n.232G>C
4g.125446342G>TCA358138331FAT4c.7249G>T (p.Gly2417Ter)
c.2020G>T (p.Gly674Ter)
c.2137G>T (p.Gly713Ter)
c.7243G>T (p.Gly2415Ter)
n.232G>T
4g.125446343G>ACA358138341FAT4c.7250G>A (p.Gly2417Glu)
c.2021G>A (p.Gly674Glu)
c.2138G>A (p.Gly713Glu)
c.7244G>A (p.Gly2415Glu)
n.233G>A
 COSMIC COSMIC
4g.125446343G>CCA358138343FAT4c.7250G>C (p.Gly2417Ala)
c.2021G>C (p.Gly674Ala)
c.2138G>C (p.Gly713Ala)
c.7244G>C (p.Gly2415Ala)
n.233G>C
4g.125446343G>TCA358138345FAT4c.7250G>T (p.Gly2417Val)
c.2021G>T (p.Gly674Val)
c.2138G>T (p.Gly713Val)
c.7244G>T (p.Gly2415Val)
n.233G>T
4g.125446344A=CA1491655022FAT4c.7251A= (p.Gly2417=)
c.2022A= (p.Gly674=)
c.2139A= (p.Gly713=)
c.7245A= (p.Gly2415=)
n.234A=
4g.125446344A>CCA441369923FAT4c.7251A>C (p.Gly2417=)
c.2022A>C (p.Gly674=)
c.2139A>C (p.Gly713=)
c.7245A>C (p.Gly2415=)
n.234A>C
4g.125446344A>GCA3073150FAT4c.7251A>G (p.Gly2417=)
c.2022A>G (p.Gly674=)
c.2139A>G (p.Gly713=)
c.7245A>G (p.Gly2415=)
n.234A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446344A>TCA441369926FAT4c.7251A>T (p.Gly2417=)
c.2022A>T (p.Gly674=)
c.2139A>T (p.Gly713=)
c.7245A>T (p.Gly2415=)
n.234A>T
4g.125446345C>ACA358138349FAT4c.7252C>A (p.Gln2418Lys)
c.2023C>A (p.Gln675Lys)
c.2140C>A (p.Gln714Lys)
c.7246C>A (p.Gln2416Lys)
n.235C>A
4g.125446345C>GCA358138351FAT4c.7252C>G (p.Gln2418Glu)
c.2023C>G (p.Gln675Glu)
c.2140C>G (p.Gln714Glu)
c.7246C>G (p.Gln2416Glu)
n.235C>G
4g.125446345C>TCA358138359FAT4c.7252C>T (p.Gln2418Ter)
c.2023C>T (p.Gln675Ter)
c.2140C>T (p.Gln714Ter)
c.7246C>T (p.Gln2416Ter)
n.235C>T
4g.125446346A>CCA358138363FAT4c.7253A>C (p.Gln2418Pro)
c.2024A>C (p.Gln675Pro)
c.2141A>C (p.Gln714Pro)
c.7247A>C (p.Gln2416Pro)
n.236A>C
4g.125446346A>GCA358138365FAT4c.7253A>G (p.Gln2418Arg)
c.2024A>G (p.Gln675Arg)
c.2141A>G (p.Gln714Arg)
c.7247A>G (p.Gln2416Arg)
n.236A>G
4g.125446346A>TCA358138368FAT4c.7253A>T (p.Gln2418Leu)
c.2024A>T (p.Gln675Leu)
c.2141A>T (p.Gln714Leu)
c.7247A>T (p.Gln2416Leu)
n.236A>T
4g.125446347A>CCA358138370FAT4c.7254A>C (p.Gln2418His)
c.2025A>C (p.Gln675His)
c.2142A>C (p.Gln714His)
c.7248A>C (p.Gln2416His)
n.237A>C
4g.125446347A>GCA441369928FAT4c.7254A>G (p.Gln2418=)
c.2025A>G (p.Gln675=)
c.2142A>G (p.Gln714=)
c.7248A>G (p.Gln2416=)
n.237A>G
4g.125446347A>TCA358138371FAT4c.7254A>T (p.Gln2418His)
c.2025A>T (p.Gln675His)
c.2142A>T (p.Gln714His)
c.7248A>T (p.Gln2416His)
n.237A>T
4g.125446348A>CCA358138380FAT4c.7255A>C (p.Ile2419Leu)
c.2026A>C (p.Ile676Leu)
c.2143A>C (p.Ile715Leu)
c.7249A>C (p.Ile2417Leu)
n.238A>C
4g.125446348A>GCA358138375FAT4c.7255A>G (p.Ile2419Val)
c.2026A>G (p.Ile676Val)
c.2143A>G (p.Ile715Val)
c.7249A>G (p.Ile2417Val)
n.238A>G
4g.125446348A>TCA358138373FAT4c.7255A>T (p.Ile2419Phe)
c.2026A>T (p.Ile676Phe)
c.2143A>T (p.Ile715Phe)
c.7249A>T (p.Ile2417Phe)
n.238A>T
4g.125446349T>ACA358138384FAT4c.7256T>A (p.Ile2419Asn)
c.2027T>A (p.Ile676Asn)
c.2144T>A (p.Ile715Asn)
c.7250T>A (p.Ile2417Asn)
n.239T>A
4g.125446349T>CCA358138386FAT4c.7256T>C (p.Ile2419Thr)
c.2027T>C (p.Ile676Thr)
c.2144T>C (p.Ile715Thr)
c.7250T>C (p.Ile2417Thr)
n.239T>C
4g.125446349T>GCA358138388FAT4c.7256T>G (p.Ile2419Ser)
c.2027T>G (p.Ile676Ser)
c.2144T>G (p.Ile715Ser)
c.7250T>G (p.Ile2417Ser)
n.239T>G
4g.125446350C>ACA441369932FAT4c.7257C>A (p.Ile2419=)
c.2028C>A (p.Ile676=)
c.2145C>A (p.Ile715=)
c.7251C>A (p.Ile2417=)
n.240C>A
 dbSNP gnomAD v3 gnomAD v4
4g.125446350C=CA1491655025FAT4c.7257C= (p.Ile2419=)
c.2028C= (p.Ile676=)
c.2145C= (p.Ile715=)
c.7251C= (p.Ile2417=)
n.240C=
4g.125446350C>GCA358138391FAT4c.7257C>G (p.Ile2419Met)
c.2028C>G (p.Ile676Met)
c.2145C>G (p.Ile715Met)
c.7251C>G (p.Ile2417Met)
n.240C>G
4g.125446350C>TCA441369933FAT4c.7257C>T (p.Ile2419=)
c.2028C>T (p.Ile676=)
c.2145C>T (p.Ile715=)
c.7251C>T (p.Ile2417=)
n.240C>T
4g.125446351A>CCA358138395FAT4c.7258A>C (p.Ile2420Leu)
c.2029A>C (p.Ile677Leu)
c.2146A>C (p.Ile716Leu)
c.7252A>C (p.Ile2418Leu)
n.241A>C
4g.125446351A>GCA358138398FAT4c.7258A>G (p.Ile2420Val)
c.2029A>G (p.Ile677Val)
c.2146A>G (p.Ile716Val)
c.7252A>G (p.Ile2418Val)
n.241A>G
 gnomAD v4
4g.125446351A>TCA358138399FAT4c.7258A>T (p.Ile2420Phe)
c.2029A>T (p.Ile677Phe)
c.2146A>T (p.Ile716Phe)
c.7252A>T (p.Ile2418Phe)
n.241A>T
4g.125446352T>ACA358138405FAT4c.7259T>A (p.Ile2420Asn)
c.2030T>A (p.Ile677Asn)
c.2147T>A (p.Ile716Asn)
c.7253T>A (p.Ile2418Asn)
n.242T>A
4g.125446352T>CCA358138401FAT4c.7259T>C (p.Ile2420Thr)
c.2030T>C (p.Ile677Thr)
c.2147T>C (p.Ile716Thr)
c.7253T>C (p.Ile2418Thr)
n.242T>C
4g.125446352T>GCA358138403FAT4c.7259T>G (p.Ile2420Ser)
c.2030T>G (p.Ile677Ser)
c.2147T>G (p.Ile716Ser)
c.7253T>G (p.Ile2418Ser)
n.242T>G
4g.125446353C>ACA441369934FAT4c.7260C>A (p.Ile2420=)
c.2031C>A (p.Ile677=)
c.2148C>A (p.Ile716=)
c.7254C>A (p.Ile2418=)
n.243C>A
4g.125446353C=CA1491655029FAT4c.7260C= (p.Ile2420=)
c.2031C= (p.Ile677=)
c.2148C= (p.Ile716=)
c.7254C= (p.Ile2418=)
n.243C=
4g.125446353C>GCA358138408FAT4c.7260C>G (p.Ile2420Met)
c.2031C>G (p.Ile677Met)
c.2148C>G (p.Ile716Met)
c.7254C>G (p.Ile2418Met)
n.243C>G
4g.125446353C>TCA3073151FAT4c.7260C>T (p.Ile2420=)
c.2031C>T (p.Ile677=)
c.2148C>T (p.Ile716=)
c.7254C>T (p.Ile2418=)
n.243C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446354A>CCA358138411FAT4c.7261A>C (p.Thr2421Pro)
c.2032A>C (p.Thr678Pro)
c.2149A>C (p.Thr717Pro)
c.7255A>C (p.Thr2419Pro)
n.244A>C
4g.125446354A>GCA358138414FAT4c.7261A>G (p.Thr2421Ala)
c.2032A>G (p.Thr678Ala)
c.2149A>G (p.Thr717Ala)
c.7255A>G (p.Thr2419Ala)
n.244A>G
 gnomAD v4
4g.125446354A>TCA358138416FAT4c.7261A>T (p.Thr2421Ser)
c.2032A>T (p.Thr678Ser)
c.2149A>T (p.Thr717Ser)
c.7255A>T (p.Thr2419Ser)
n.244A>T
4g.125446355C>ACA358138418FAT4c.7262C>A (p.Thr2421Asn)
c.2033C>A (p.Thr678Asn)
c.2150C>A (p.Thr717Asn)
c.7256C>A (p.Thr2419Asn)
n.245C>A
4g.125446355C>GCA358138426FAT4c.7262C>G (p.Thr2421Ser)
c.2033C>G (p.Thr678Ser)
c.2150C>G (p.Thr717Ser)
c.7256C>G (p.Thr2419Ser)
n.245C>G
 gnomAD v4
4g.125446355C>TCA358138420FAT4c.7262C>T (p.Thr2421Ile)
c.2033C>T (p.Thr678Ile)
c.2150C>T (p.Thr717Ile)
c.7256C>T (p.Thr2419Ile)
n.245C>T
 gnomAD v4
4g.125446356C>ACA441369935FAT4c.7263C>A (p.Thr2421=)
c.2034C>A (p.Thr678=)
c.2151C>A (p.Thr717=)
c.7257C>A (p.Thr2419=)
n.246C>A
4g.125446356C=CA1491655032FAT4c.7263C= (p.Thr2421=)
c.2034C= (p.Thr678=)
c.2151C= (p.Thr717=)
c.7257C= (p.Thr2419=)
n.246C=
4g.125446356C>GCA441369936FAT4c.7263C>G (p.Thr2421=)
c.2034C>G (p.Thr678=)
c.2151C>G (p.Thr717=)
c.7257C>G (p.Thr2419=)
n.246C>G
4g.125446356C>TCA441369937FAT4c.7263C>T (p.Thr2421=)
c.2034C>T (p.Thr678=)
c.2151C>T (p.Thr717=)
c.7257C>T (p.Thr2419=)
n.246C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125446357A=CA1491655035FAT4c.7264A= (p.Ser2422=)
c.2035A= (p.Ser679=)
c.2152A= (p.Ser718=)
c.7258A= (p.Ser2420=)
n.247A=
4g.125446357A>CCA358138429FAT4c.7264A>C (p.Ser2422Arg)
c.2035A>C (p.Ser679Arg)
c.2152A>C (p.Ser718Arg)
c.7258A>C (p.Ser2420Arg)
n.247A>C
 gnomAD v4
4g.125446357A>GCA358138431FAT4c.7264A>G (p.Ser2422Gly)
c.2035A>G (p.Ser679Gly)
c.2152A>G (p.Ser718Gly)
c.7258A>G (p.Ser2420Gly)
n.247A>G
4g.125446357A>TCA3073152FAT4c.7264A>T (p.Ser2422Cys)
c.2035A>T (p.Ser679Cys)
c.2152A>T (p.Ser718Cys)
c.7258A>T (p.Ser2420Cys)
n.247A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446358G>ACA358138435FAT4c.7265G>A (p.Ser2422Asn)
c.2036G>A (p.Ser679Asn)
c.2153G>A (p.Ser718Asn)
c.7259G>A (p.Ser2420Asn)
n.248G>A
4g.125446358G>CCA358138438FAT4c.7265G>C (p.Ser2422Thr)
c.2036G>C (p.Ser679Thr)
c.2153G>C (p.Ser718Thr)
c.7259G>C (p.Ser2420Thr)
n.248G>C
4g.125446358G>TCA358138441FAT4c.7265G>T (p.Ser2422Ile)
c.2036G>T (p.Ser679Ile)
c.2153G>T (p.Ser718Ile)
c.7259G>T (p.Ser2420Ile)
n.248G>T
 gnomAD v4
4g.125446359C>ACA358138444FAT4c.7266C>A (p.Ser2422Arg)
c.2037C>A (p.Ser679Arg)
c.2154C>A (p.Ser718Arg)
c.7260C>A (p.Ser2420Arg)
n.249C>A
 gnomAD v4
4g.125446359C=CA1491655047FAT4c.7266C= (p.Ser2422=)
c.2037C= (p.Ser679=)
c.2154C= (p.Ser718=)
c.7260C= (p.Ser2420=)
n.249C=
4g.125446359C>GCA358138447FAT4c.7266C>G (p.Ser2422Arg)
c.2037C>G (p.Ser679Arg)
c.2154C>G (p.Ser718Arg)
c.7260C>G (p.Ser2420Arg)
n.249C>G
4g.125446359C>TCA3073153FAT4c.7266C>T (p.Ser2422=)
c.2037C>T (p.Ser679=)
c.2154C>T (p.Ser718=)
c.7260C>T (p.Ser2420=)
n.249C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125446360G>ACA3073154FAT4c.7267G>A (p.Ala2423Thr)
c.2038G>A (p.Ala680Thr)
c.2155G>A (p.Ala719Thr)
c.7261G>A (p.Ala2421Thr)
n.250G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
4g.125446360G>CCA358138451FAT4c.7267G>C (p.Ala2423Pro)
c.2038G>C (p.Ala680Pro)
c.2155G>C (p.Ala719Pro)
c.7261G>C (p.Ala2421Pro)
n.250G>C
4g.125446360G=CA1491655061FAT4c.7267G= (p.Ala2423=)
c.2038G= (p.Ala680=)
c.2155G= (p.Ala719=)
c.7261G= (p.Ala2421=)
n.250G=
4g.125446360G>TCA3073155FAT4c.7267G>T (p.Ala2423Ser)
c.2038G>T (p.Ala680Ser)
c.2155G>T (p.Ala719Ser)
c.7261G>T (p.Ala2421Ser)
n.250G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446361C>ACA358138456FAT4c.7268C>A (p.Ala2423Glu)
c.2039C>A (p.Ala680Glu)
c.2156C>A (p.Ala719Glu)
c.7262C>A (p.Ala2421Glu)
n.251C>A
4g.125446361C>GCA358138459FAT4c.7268C>G (p.Ala2423Gly)
c.2039C>G (p.Ala680Gly)
c.2156C>G (p.Ala719Gly)
c.7262C>G (p.Ala2421Gly)
n.251C>G
4g.125446361C>TCA358138458FAT4c.7268C>T (p.Ala2423Val)
c.2039C>T (p.Ala680Val)
c.2156C>T (p.Ala719Val)
c.7262C>T (p.Ala2421Val)
n.251C>T
4g.125446362A>CCA441369938FAT4c.7269A>C (p.Ala2423=)
c.2040A>C (p.Ala680=)
c.2157A>C (p.Ala719=)
c.7263A>C (p.Ala2421=)
n.252A>C
4g.125446362A>GCA441369939FAT4c.7269A>G (p.Ala2423=)
c.2040A>G (p.Ala680=)
c.2157A>G (p.Ala719=)
c.7263A>G (p.Ala2421=)
n.252A>G
4g.125446362A>TCA441369940FAT4c.7269A>T (p.Ala2423=)
c.2040A>T (p.Ala680=)
c.2157A>T (p.Ala719=)
c.7263A>T (p.Ala2421=)
n.252A>T
4g.125446363T>ACA358138462FAT4c.7270T>A (p.Leu2424Met)
c.2041T>A (p.Leu681Met)
c.2158T>A (p.Leu720Met)
c.7264T>A (p.Leu2422Met)
n.253T>A
4g.125446363T>CCA441369941FAT4c.7270T>C (p.Leu2424=)
c.2041T>C (p.Leu681=)
c.2158T>C (p.Leu720=)
c.7264T>C (p.Leu2422=)
n.253T>C
4g.125446363T>GCA358138463FAT4c.7270T>G (p.Leu2424Val)
c.2041T>G (p.Leu681Val)
c.2158T>G (p.Leu720Val)
c.7264T>G (p.Leu2422Val)
n.253T>G
4g.125446364T>ACA358138466FAT4c.7271T>A (p.Leu2424Ter)
c.2042T>A (p.Leu681Ter)
c.2159T>A (p.Leu720Ter)
c.7265T>A (p.Leu2422Ter)
n.254T>A
4g.125446364T>CCA3073156FAT4c.7271T>C (p.Leu2424Ser)
c.2042T>C (p.Leu681Ser)
c.2159T>C (p.Leu720Ser)
c.7265T>C (p.Leu2422Ser)
n.254T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125446364T>GCA358138468FAT4c.7271T>G (p.Leu2424Trp)
c.2042T>G (p.Leu681Trp)
c.2159T>G (p.Leu720Trp)
c.7265T>G (p.Leu2422Trp)
n.254T>G
4g.125446364T=CA1491655065FAT4c.7271T= (p.Leu2424=)
c.2042T= (p.Leu681=)
c.2159T= (p.Leu720=)
c.7265T= (p.Leu2422=)
n.254T=
4g.125446365G>ACA441369942FAT4c.7272G>A (p.Leu2424=)
c.2043G>A (p.Leu681=)
c.2160G>A (p.Leu720=)
c.7266G>A (p.Leu2422=)
n.255G>A
 dbSNP gnomAD v3 gnomAD v4
4g.125446365G>CCA358138471FAT4c.7272G>C (p.Leu2424Phe)
c.2043G>C (p.Leu681Phe)
c.2160G>C (p.Leu720Phe)
c.7266G>C (p.Leu2422Phe)
n.255G>C
4g.125446365G=CA1491655071FAT4c.7272G= (p.Leu2424=)
c.2043G= (p.Leu681=)
c.2160G= (p.Leu720=)
c.7266G= (p.Leu2422=)
n.255G=
4g.125446365G>TCA358138474FAT4c.7272G>T (p.Leu2424Phe)
c.2043G>T (p.Leu681Phe)
c.2160G>T (p.Leu720Phe)
c.7266G>T (p.Leu2422Phe)
n.255G>T
 COSMIC COSMIC
4g.125446366T>ACA358138475FAT4c.7273T>A (p.Leu2425Ile)
c.2044T>A (p.Leu682Ile)
c.2161T>A (p.Leu721Ile)
c.7267T>A (p.Leu2423Ile)
n.256T>A
4g.125446366T>CCA441369945FAT4c.7273T>C (p.Leu2425=)
c.2044T>C (p.Leu682=)
c.2161T>C (p.Leu721=)
c.7267T>C (p.Leu2423=)
n.256T>C
4g.125446366T>GCA358138477FAT4c.7273T>G (p.Leu2425Val)
c.2044T>G (p.Leu682Val)
c.2161T>G (p.Leu721Val)
c.7267T>G (p.Leu2423Val)
n.256T>G
4g.125446367T>ACA358138479FAT4c.7274T>A (p.Leu2425Ter)
c.2045T>A (p.Leu682Ter)
c.2162T>A (p.Leu721Ter)
c.7268T>A (p.Leu2423Ter)
n.257T>A
4g.125446367T>CCA358138481FAT4c.7274T>C (p.Leu2425Ser)
c.2045T>C (p.Leu682Ser)
c.2162T>C (p.Leu721Ser)
c.7268T>C (p.Leu2423Ser)
n.257T>C
 COSMIC COSMIC
4g.125446367T>GCA358138483FAT4c.7274T>G (p.Leu2425Ter)
c.2045T>G (p.Leu682Ter)
c.2162T>G (p.Leu721Ter)
c.7268T>G (p.Leu2423Ter)
n.257T>G
4g.125446368A>CCA358138486FAT4c.7275A>C (p.Leu2425Phe)
c.2046A>C (p.Leu682Phe)
c.2163A>C (p.Leu721Phe)
c.7269A>C (p.Leu2423Phe)
n.258A>C
4g.125446368A>GCA441369947FAT4c.7275A>G (p.Leu2425=)
c.2046A>G (p.Leu682=)
c.2163A>G (p.Leu721=)
c.7269A>G (p.Leu2423=)
n.258A>G
4g.125446368A>TCA358138489FAT4c.7275A>T (p.Leu2425Phe)
c.2046A>T (p.Leu682Phe)
c.2163A>T (p.Leu721Phe)
c.7269A>T (p.Leu2423Phe)
n.258A>T
4g.125446369G>ACA358138492FAT4c.7276G>A (p.Asp2426Asn)
c.2047G>A (p.Asp683Asn)
c.2164G>A (p.Asp722Asn)
c.7270G>A (p.Asp2424Asn)
n.259G>A
4g.125446369G>CCA358138496FAT4c.7276G>C (p.Asp2426His)
c.2047G>C (p.Asp683His)
c.2164G>C (p.Asp722His)
c.7270G>C (p.Asp2424His)
n.259G>C
4g.125446369G>TCA358138493FAT4c.7276G>T (p.Asp2426Tyr)
c.2047G>T (p.Asp683Tyr)
c.2164G>T (p.Asp722Tyr)
c.7270G>T (p.Asp2424Tyr)
n.259G>T
4g.125446370A>CCA358138500FAT4c.7277A>C (p.Asp2426Ala)
c.2048A>C (p.Asp683Ala)
c.2165A>C (p.Asp722Ala)
c.7271A>C (p.Asp2424Ala)
n.260A>C
4g.125446370A>GCA358138503FAT4c.7277A>G (p.Asp2426Gly)
c.2048A>G (p.Asp683Gly)
c.2165A>G (p.Asp722Gly)
c.7271A>G (p.Asp2424Gly)
n.260A>G
4g.125446370A>TCA358138506FAT4c.7277A>T (p.Asp2426Val)
c.2048A>T (p.Asp683Val)
c.2165A>T (p.Asp722Val)
c.7271A>T (p.Asp2424Val)
n.260A>T
 COSMIC COSMIC
4g.125446371T>ACA358138509FAT4c.7278T>A (p.Asp2426Glu)
c.2049T>A (p.Asp683Glu)
c.2166T>A (p.Asp722Glu)
c.7272T>A (p.Asp2424Glu)
n.261T>A
4g.125446371T>CCA441369948FAT4c.7278T>C (p.Asp2426=)
c.2049T>C (p.Asp683=)
c.2166T>C (p.Asp722=)
c.7272T>C (p.Asp2424=)
n.261T>C
 dbSNP gnomAD v2 gnomAD v4
4g.125446371T>GCA358138511FAT4c.7278T>G (p.Asp2426Glu)
c.2049T>G (p.Asp683Glu)
c.2166T>G (p.Asp722Glu)
c.7272T>G (p.Asp2424Glu)
n.261T>G
4g.125446371T=CA1491655076FAT4c.7278T= (p.Asp2426=)
c.2049T= (p.Asp683=)
c.2166T= (p.Asp722=)
c.7272T= (p.Asp2424=)
n.261T=
4g.125446372A=CA1491655078FAT4c.7279A= (p.Arg2427=)
c.2050A= (p.Arg684=)
c.2167A= (p.Arg723=)
c.7273A= (p.Arg2425=)
n.262A=
4g.125446372A>CCA441369949FAT4c.7279A>C (p.Arg2427=)
c.2050A>C (p.Arg684=)
c.2167A>C (p.Arg723=)
c.7273A>C (p.Arg2425=)
n.262A>C
4g.125446372A>GCA3073157FAT4c.7279A>G (p.Arg2427Gly)
c.2050A>G (p.Arg684Gly)
c.2167A>G (p.Arg723Gly)
c.7273A>G (p.Arg2425Gly)
n.262A>G
 dbSNP ExAC gnomAD v2
4g.125446372A>TCA358138515FAT4c.7279A>T (p.Arg2427Trp)
c.2050A>T (p.Arg684Trp)
c.2167A>T (p.Arg723Trp)
c.7273A>T (p.Arg2425Trp)
n.262A>T
4g.125446373G>ACA358138518FAT4c.7280G>A (p.Arg2427Lys)
c.2051G>A (p.Arg684Lys)
c.2168G>A (p.Arg723Lys)
c.7274G>A (p.Arg2425Lys)
n.263G>A
 dbSNP gnomAD v4
4g.125446373G>CCA358138521FAT4c.7280G>C (p.Arg2427Thr)
c.2051G>C (p.Arg684Thr)
c.2168G>C (p.Arg723Thr)
c.7274G>C (p.Arg2425Thr)
n.263G>C
4g.125446373G=CA1491655082FAT4c.7280G= (p.Arg2427=)
c.2051G= (p.Arg684=)
c.2168G= (p.Arg723=)
c.7274G= (p.Arg2425=)
n.263G=
4g.125446373G>TCA358138522FAT4c.7280G>T (p.Arg2427Met)
c.2051G>T (p.Arg684Met)
c.2168G>T (p.Arg723Met)
c.7274G>T (p.Arg2425Met)
n.263G>T
4g.125446374G>ACA104877914FAT4c.7281G>A (p.Arg2427=)
c.2052G>A (p.Arg684=)
c.2169G>A (p.Arg723=)
c.7275G>A (p.Arg2425=)
n.264G>A
 dbSNP
4g.125446374G>CCA358138525FAT4c.7281G>C (p.Arg2427Ser)
c.2052G>C (p.Arg684Ser)
c.2169G>C (p.Arg723Ser)
c.7275G>C (p.Arg2425Ser)
n.264G>C
4g.125446374G=CA1491655086FAT4c.7281G= (p.Arg2427=)
c.2052G= (p.Arg684=)
c.2169G= (p.Arg723=)
c.7275G= (p.Arg2425=)
n.264G=
4g.125446374G>TCA358138527FAT4c.7281G>T (p.Arg2427Ser)
c.2052G>T (p.Arg684Ser)
c.2169G>T (p.Arg723Ser)
c.7275G>T (p.Arg2425Ser)
n.264G>T
4g.125446375G>ACA358138532FAT4c.7282G>A (p.Glu2428Lys)
c.2053G>A (p.Glu685Lys)
c.2170G>A (p.Glu724Lys)
c.7276G>A (p.Glu2426Lys)
n.265G>A
4g.125446375G>CCA104877918FAT4c.7282G>C (p.Glu2428Gln)
c.2053G>C (p.Glu685Gln)
c.2170G>C (p.Glu724Gln)
c.7276G>C (p.Glu2426Gln)
n.265G>C
 dbSNP gnomAD v3 gnomAD v4
4g.125446375G=CA1491655089FAT4c.7282G= (p.Glu2428=)
c.2053G= (p.Glu685=)
c.2170G= (p.Glu724=)
c.7276G= (p.Glu2426=)
n.265G=
4g.125446375G>TCA358138535FAT4c.7282G>T (p.Glu2428Ter)
c.2053G>T (p.Glu685Ter)
c.2170G>T (p.Glu724Ter)
c.7276G>T (p.Glu2426Ter)
n.265G>T
4g.125446376A=CA1491655091FAT4c.7283A= (p.Glu2428=)
c.2054A= (p.Glu685=)
c.2171A= (p.Glu724=)
c.7277A= (p.Glu2426=)
n.266A=
4g.125446376A>CCA358138538FAT4c.7283A>C (p.Glu2428Ala)
c.2054A>C (p.Glu685Ala)
c.2171A>C (p.Glu724Ala)
c.7277A>C (p.Glu2426Ala)
n.266A>C
4g.125446376A>GCA358138541FAT4c.7283A>G (p.Glu2428Gly)
c.2054A>G (p.Glu685Gly)
c.2171A>G (p.Glu724Gly)
c.7277A>G (p.Glu2426Gly)
n.266A>G
 dbSNP gnomAD v2 gnomAD v4
4g.125446376A>TCA358138544FAT4c.7283A>T (p.Glu2428Val)
c.2054A>T (p.Glu685Val)
c.2171A>T (p.Glu724Val)
c.7277A>T (p.Glu2426Val)
n.266A>T
 gnomAD v4
4g.125446377A=CA1491655096FAT4c.7284A= (p.Glu2428=)
c.2055A= (p.Glu685=)
c.2172A= (p.Glu724=)
c.7278A= (p.Glu2426=)
n.267A=
4g.125446377A>CCA358138545FAT4c.7284A>C (p.Glu2428Asp)
c.2055A>C (p.Glu685Asp)
c.2172A>C (p.Glu724Asp)
c.7278A>C (p.Glu2426Asp)
n.267A>C
4g.125446377A>GCA441369954FAT4c.7284A>G (p.Glu2428=)
c.2055A>G (p.Glu685=)
c.2172A>G (p.Glu724=)
c.7278A>G (p.Glu2426=)
n.267A>G
4g.125446377A>TCA358138547FAT4c.7284A>T (p.Glu2428Asp)
c.2055A>T (p.Glu685Asp)
c.2172A>T (p.Glu724Asp)
c.7278A>T (p.Glu2426Asp)
n.267A>T
 dbSNP gnomAD v2 gnomAD v4
4g.125446378A>CCA358138551FAT4c.7285A>C (p.Thr2429Pro)
c.2056A>C (p.Thr686Pro)
c.2173A>C (p.Thr725Pro)
c.7279A>C (p.Thr2427Pro)
n.268A>C
4g.125446378A>GCA358138554FAT4c.7285A>G (p.Thr2429Ala)
c.2056A>G (p.Thr686Ala)
c.2173A>G (p.Thr725Ala)
c.7279A>G (p.Thr2427Ala)
n.268A>G
 gnomAD v4
4g.125446378A>TCA358138557FAT4c.7285A>T (p.Thr2429Ser)
c.2056A>T (p.Thr686Ser)
c.2173A>T (p.Thr725Ser)
c.7279A>T (p.Thr2427Ser)
n.268A>T
4g.125446379C>ACA358138562FAT4c.7286C>A (p.Thr2429Lys)
c.2057C>A (p.Thr686Lys)
c.2174C>A (p.Thr725Lys)
c.7280C>A (p.Thr2427Lys)
n.269C>A
4g.125446379C=CA1491655100FAT4c.7286C= (p.Thr2429=)
c.2057C= (p.Thr686=)
c.2174C= (p.Thr725=)
c.7280C= (p.Thr2427=)
n.269C=
4g.125446379C>GCA358138567FAT4c.7286C>G (p.Thr2429Arg)
c.2057C>G (p.Thr686Arg)
c.2174C>G (p.Thr725Arg)
c.7280C>G (p.Thr2427Arg)
n.269C>G
 gnomAD v4
4g.125446379C>TCA358138564FAT4c.7286C>T (p.Thr2429Ile)
c.2057C>T (p.Thr686Ile)
c.2174C>T (p.Thr725Ile)
c.7280C>T (p.Thr2427Ile)
n.269C>T
 dbSNP gnomAD v3 gnomAD v4
4g.125446380A=CA1491655106FAT4c.7287A= (p.Thr2429=)
c.2058A= (p.Thr686=)
c.2175A= (p.Thr725=)
c.7281A= (p.Thr2427=)
n.270A=
4g.125446380A>CCA441369958FAT4c.7287A>C (p.Thr2429=)
c.2058A>C (p.Thr686=)
c.2175A>C (p.Thr725=)
c.7281A>C (p.Thr2427=)
n.270A>C
4g.125446380A>GCA3073158FAT4c.7287A>G (p.Thr2429=)
c.2058A>G (p.Thr686=)
c.2175A>G (p.Thr725=)
c.7281A>G (p.Thr2427=)
n.270A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446380A>TCA441369959FAT4c.7287A>T (p.Thr2429=)
c.2058A>T (p.Thr686=)
c.2175A>T (p.Thr725=)
c.7281A>T (p.Thr2427=)
n.270A>T
4g.125446381A>CCA358138573FAT4c.7288A>C (p.Lys2430Gln)
c.2059A>C (p.Lys687Gln)
c.2176A>C (p.Lys726Gln)
c.7282A>C (p.Lys2428Gln)
n.271A>C
 COSMIC COSMIC
4g.125446381A>GCA358138575FAT4c.7288A>G (p.Lys2430Glu)
c.2059A>G (p.Lys687Glu)
c.2176A>G (p.Lys726Glu)
c.7282A>G (p.Lys2428Glu)
n.271A>G
4g.125446381A>TCA358138578FAT4c.7288A>T (p.Lys2430Ter)
c.2059A>T (p.Lys687Ter)
c.2176A>T (p.Lys726Ter)
c.7282A>T (p.Lys2428Ter)
n.271A>T
4g.125446383_125446388delCA645538583FAT4c.7290_7295del (p.Lys2430_Asp2431del)
c.2061_2066del (p.Lys687_Asp688del)
c.2178_2183del (p.Lys726_Asp727del)
c.7284_7289del (p.Lys2428_Asp2429del)
n.273_278del
 COSMIC COSMIC
4g.125446382A>CCA358138586FAT4c.7289A>C (p.Lys2430Thr)
c.2060A>C (p.Lys687Thr)
c.2177A>C (p.Lys726Thr)
c.7283A>C (p.Lys2428Thr)
n.272A>C
4g.125446382A>GCA358138582FAT4c.7289A>G (p.Lys2430Arg)
c.2060A>G (p.Lys687Arg)
c.2177A>G (p.Lys726Arg)
c.7283A>G (p.Lys2428Arg)
n.272A>G
4g.125446382A>TCA358138584FAT4c.7289A>T (p.Lys2430Ile)
c.2060A>T (p.Lys687Ile)
c.2177A>T (p.Lys726Ile)
c.7283A>T (p.Lys2428Ile)
n.272A>T
4g.125446383A>CCA358138589FAT4c.7290A>C (p.Lys2430Asn)
c.2061A>C (p.Lys687Asn)
c.2178A>C (p.Lys726Asn)
c.7284A>C (p.Lys2428Asn)
n.273A>C
4g.125446383A>GCA441369961FAT4c.7290A>G (p.Lys2430=)
c.2061A>G (p.Lys687=)
c.2178A>G (p.Lys726=)
c.7284A>G (p.Lys2428=)
n.273A>G
4g.125446383A>TCA358138594FAT4c.7290A>T (p.Lys2430Asn)
c.2061A>T (p.Lys687Asn)
c.2178A>T (p.Lys726Asn)
c.7284A>T (p.Lys2428Asn)
n.273A>T
4g.125446384G>ACA358138600FAT4c.7291G>A (p.Asp2431Asn)
c.2062G>A (p.Asp688Asn)
c.2179G>A (p.Asp727Asn)
c.7285G>A (p.Asp2429Asn)
n.274G>A
 gnomAD v4 COSMIC COSMIC
4g.125446384G>CCA358138609FAT4c.7291G>C (p.Asp2431His)
c.2062G>C (p.Asp688His)
c.2179G>C (p.Asp727His)
c.7285G>C (p.Asp2429His)
n.274G>C
4g.125446384G=CA1491655109FAT4c.7291G= (p.Asp2431=)
c.2062G= (p.Asp688=)
c.2179G= (p.Asp727=)
c.7285G= (p.Asp2429=)
n.274G=
4g.125446384G>TCA358138614FAT4c.7291G>T (p.Asp2431Tyr)
c.2062G>T (p.Asp688Tyr)
c.2179G>T (p.Asp727Tyr)
c.7285G>T (p.Asp2429Tyr)
n.274G>T
 dbSNP gnomAD v3 gnomAD v4
4g.125446385A=CA1491655115FAT4c.7292A= (p.Asp2431=)
c.2063A= (p.Asp688=)
c.2180A= (p.Asp727=)
c.7286A= (p.Asp2429=)
n.275A=
4g.125446385A>CCA358138617FAT4c.7292A>C (p.Asp2431Ala)
c.2063A>C (p.Asp688Ala)
c.2180A>C (p.Asp727Ala)
c.7286A>C (p.Asp2429Ala)
n.275A>C
4g.125446385A>GCA104877921FAT4c.7292A>G (p.Asp2431Gly)
c.2063A>G (p.Asp688Gly)
c.2180A>G (p.Asp727Gly)
c.7286A>G (p.Asp2429Gly)
n.275A>G
 dbSNP gnomAD v4
4g.125446385A>TCA358138622FAT4c.7292A>T (p.Asp2431Val)
c.2063A>T (p.Asp688Val)
c.2180A>T (p.Asp727Val)
c.7286A>T (p.Asp2429Val)
n.275A>T
4g.125446386T>ACA358138625FAT4c.7293T>A (p.Asp2431Glu)
c.2064T>A (p.Asp688Glu)
c.2181T>A (p.Asp727Glu)
c.7287T>A (p.Asp2429Glu)
n.276T>A
4g.125446386T>CCA441369967FAT4c.7293T>C (p.Asp2431=)
c.2064T>C (p.Asp688=)
c.2181T>C (p.Asp727=)
c.7287T>C (p.Asp2429=)
n.276T>C
4g.125446386T>GCA358138630FAT4c.7293T>G (p.Asp2431Glu)
c.2064T>G (p.Asp688Glu)
c.2181T>G (p.Asp727Glu)
c.7287T>G (p.Asp2429Glu)
n.276T>G
4g.125446387A=CA1491655118FAT4c.7294A= (p.Asn2432=)
c.2065A= (p.Asn689=)
c.2182A= (p.Asn728=)
c.7288A= (p.Asn2430=)
n.277A=
4g.125446387A>CCA358138633FAT4c.7294A>C (p.Asn2432His)
c.2065A>C (p.Asn689His)
c.2182A>C (p.Asn728His)
c.7288A>C (p.Asn2430His)
n.277A>C
4g.125446387A>GCA358138637FAT4c.7294A>G (p.Asn2432Asp)
c.2065A>G (p.Asn689Asp)
c.2182A>G (p.Asn728Asp)
c.7288A>G (p.Asn2430Asp)
n.277A>G
 dbSNP gnomAD v4
4g.125446387A>TCA358138641FAT4c.7294A>T (p.Asn2432Tyr)
c.2065A>T (p.Asn689Tyr)
c.2182A>T (p.Asn728Tyr)
c.7288A>T (p.Asn2430Tyr)
n.277A>T
4g.125446388A=CA1491655122FAT4c.7295A= (p.Asn2432=)
c.2066A= (p.Asn689=)
c.2183A= (p.Asn728=)
c.7289A= (p.Asn2430=)
n.278A=
4g.125446388A>CCA358138644FAT4c.7295A>C (p.Asn2432Thr)
c.2066A>C (p.Asn689Thr)
c.2183A>C (p.Asn728Thr)
c.7289A>C (p.Asn2430Thr)
n.278A>C
4g.125446388A>GCA358138648FAT4c.7295A>G (p.Asn2432Ser)
c.2066A>G (p.Asn689Ser)
c.2183A>G (p.Asn728Ser)
c.7289A>G (p.Asn2430Ser)
n.278A>G
 dbSNP gnomAD v2 gnomAD v4
4g.125446388A>TCA358138646FAT4c.7295A>T (p.Asn2432Ile)
c.2066A>T (p.Asn689Ile)
c.2183A>T (p.Asn728Ile)
c.7289A>T (p.Asn2430Ile)
n.278A>T
4g.125446389T>ACA358138650FAT4c.7296T>A (p.Asn2432Lys)
c.2067T>A (p.Asn689Lys)
c.2184T>A (p.Asn728Lys)
c.7290T>A (p.Asn2430Lys)
n.279T>A
4g.125446389T>CCA441369975FAT4c.7296T>C (p.Asn2432=)
c.2067T>C (p.Asn689=)
c.2184T>C (p.Asn728=)
c.7290T>C (p.Asn2430=)
n.279T>C
4g.125446389T>GCA358138652FAT4c.7296T>G (p.Asn2432Lys)
c.2067T>G (p.Asn689Lys)
c.2184T>G (p.Asn728Lys)
c.7290T>G (p.Asn2430Lys)
n.279T>G
4g.125446390T>ACA358138654FAT4c.7297T>A (p.Tyr2433Asn)
c.2068T>A (p.Tyr690Asn)
c.2185T>A (p.Tyr729Asn)
c.7291T>A (p.Tyr2431Asn)
n.280T>A
4g.125446390T>CCA358138657FAT4c.7297T>C (p.Tyr2433His)
c.2068T>C (p.Tyr690His)
c.2185T>C (p.Tyr729His)
c.7291T>C (p.Tyr2431His)
n.280T>C
4g.125446390T>GCA358138660FAT4c.7297T>G (p.Tyr2433Asp)
c.2068T>G (p.Tyr690Asp)
c.2185T>G (p.Tyr729Asp)
c.7291T>G (p.Tyr2431Asp)
n.280T>G
4g.125446391A=CA1491655126FAT4c.7298A= (p.Tyr2433=)
c.2069A= (p.Tyr690=)
c.2186A= (p.Tyr729=)
c.7292A= (p.Tyr2431=)
n.281A=
4g.125446391A>CCA358138672FAT4c.7298A>C (p.Tyr2433Ser)
c.2069A>C (p.Tyr690Ser)
c.2186A>C (p.Tyr729Ser)
c.7292A>C (p.Tyr2431Ser)
n.281A>C
4g.125446391A>GCA104877922FAT4c.7298A>G (p.Tyr2433Cys)
c.2069A>G (p.Tyr690Cys)
c.2186A>G (p.Tyr729Cys)
c.7292A>G (p.Tyr2431Cys)
n.281A>G
 dbSNP
4g.125446391A>TCA358138666FAT4c.7298A>T (p.Tyr2433Phe)
c.2069A>T (p.Tyr690Phe)
c.2186A>T (p.Tyr729Phe)
c.7292A>T (p.Tyr2431Phe)
n.281A>T
 ClinVar dbSNP gnomAD v4
4g.125446392T>ACA358138674FAT4c.7299T>A (p.Tyr2433Ter)
c.2070T>A (p.Tyr690Ter)
c.2187T>A (p.Tyr729Ter)
c.7293T>A (p.Tyr2431Ter)
n.282T>A
4g.125446392T>CCA3073159FAT4c.7299T>C (p.Tyr2433=)
c.2070T>C (p.Tyr690=)
c.2187T>C (p.Tyr729=)
c.7293T>C (p.Tyr2431=)
n.282T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125446392T>GCA358138678FAT4c.7299T>G (p.Tyr2433Ter)
c.2070T>G (p.Tyr690Ter)
c.2187T>G (p.Tyr729Ter)
c.7293T>G (p.Tyr2431Ter)
n.282T>G
4g.125446392T=CA1491655129FAT4c.7299T= (p.Tyr2433=)
c.2070T= (p.Tyr690=)
c.2187T= (p.Tyr729=)
c.7293T= (p.Tyr2431=)
n.282T=
4g.125446393A>CCA358138681FAT4c.7300A>C (p.Thr2434Pro)
c.2071A>C (p.Thr691Pro)
c.2188A>C (p.Thr730Pro)
c.7294A>C (p.Thr2432Pro)
n.283A>C
4g.125446393A>GCA358138684FAT4c.7300A>G (p.Thr2434Ala)
c.2071A>G (p.Thr691Ala)
c.2188A>G (p.Thr730Ala)
c.7294A>G (p.Thr2432Ala)
n.283A>G
 gnomAD v4
4g.125446393A>TCA358138687FAT4c.7300A>T (p.Thr2434Ser)
c.2071A>T (p.Thr691Ser)
c.2188A>T (p.Thr730Ser)
c.7294A>T (p.Thr2432Ser)
n.283A>T
4g.125446394C>ACA358138690FAT4c.7301C>A (p.Thr2434Asn)
c.2072C>A (p.Thr691Asn)
c.2189C>A (p.Thr730Asn)
c.7295C>A (p.Thr2432Asn)
n.284C>A
 gnomAD v4
4g.125446394C=CA1491655133FAT4c.7301C= (p.Thr2434=)
c.2072C= (p.Thr691=)
c.2189C= (p.Thr730=)
c.7295C= (p.Thr2432=)
n.284C=
4g.125446394C>GCA358138693FAT4c.7301C>G (p.Thr2434Ser)
c.2072C>G (p.Thr691Ser)
c.2189C>G (p.Thr730Ser)
c.7295C>G (p.Thr2432Ser)
n.284C>G
 gnomAD v4
4g.125446394C>TCA3073160FAT4c.7301C>T (p.Thr2434Ile)
c.2072C>T (p.Thr691Ile)
c.2189C>T (p.Thr730Ile)
c.7295C>T (p.Thr2432Ile)
n.284C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.125446395T>ACA441369987FAT4c.7302T>A (p.Thr2434=)
c.2073T>A (p.Thr691=)
c.2190T>A (p.Thr730=)
c.7296T>A (p.Thr2432=)
n.285T>A
4g.125446395T>CCA441369988FAT4c.7302T>C (p.Thr2434=)
c.2073T>C (p.Thr691=)
c.2190T>C (p.Thr730=)
c.7296T>C (p.Thr2432=)
n.285T>C
4g.125446395T>GCA441369989FAT4c.7302T>G (p.Thr2434=)
c.2073T>G (p.Thr691=)
c.2190T>G (p.Thr730=)
c.7296T>G (p.Thr2432=)
n.285T>G
 dbSNP gnomAD v2 COSMIC COSMIC
4g.125446395T=CA1491655136FAT4c.7302T= (p.Thr2434=)
c.2073T= (p.Thr691=)
c.2190T= (p.Thr730=)
c.7296T= (p.Thr2432=)
n.285T=
4g.125446396T>ACA358138696FAT4c.7303T>A (p.Leu2435Met)
c.2074T>A (p.Leu692Met)
c.2191T>A (p.Leu731Met)
c.7297T>A (p.Leu2433Met)
n.286T>A
4g.125446396T>CCA441369992FAT4c.7303T>C (p.Leu2435=)
c.2074T>C (p.Leu692=)
c.2191T>C (p.Leu731=)
c.7297T>C (p.Leu2433=)
n.286T>C
4g.125446396T>GCA358138699FAT4c.7303T>G (p.Leu2435Val)
c.2074T>G (p.Leu692Val)
c.2191T>G (p.Leu731Val)
c.7297T>G (p.Leu2433Val)
n.286T>G
4g.125446397T>ACA358138703FAT4c.7304T>A (p.Leu2435Ter)
c.2075T>A (p.Leu692Ter)
c.2192T>A (p.Leu731Ter)
c.7298T>A (p.Leu2433Ter)
n.287T>A
4g.125446397T>CCA358138705FAT4c.7304T>C (p.Leu2435Ser)
c.2075T>C (p.Leu692Ser)
c.2192T>C (p.Leu731Ser)
c.7298T>C (p.Leu2433Ser)
n.287T>C
4g.125446397T>GCA358138707FAT4c.7304T>G (p.Leu2435Trp)
c.2075T>G (p.Leu692Trp)
c.2192T>G (p.Leu731Trp)
c.7298T>G (p.Leu2433Trp)
n.287T>G

Number of alleles fetched