Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154899869_154902170dup | CA1139771163 | F8 | c.6001_6273+2dup c.5896_6168+2dup | |
X | g.154902091T>A | CA519355860 | F8 | c.6075A>T (p.Leu2025=) c.5970A>T (p.Leu1990=) | |
X | g.154902091T>C | CA519355861 | F8 | c.6075A>G (p.Leu2025=) c.5970A>G (p.Leu1990=) | gnomAD v4 |
X | g.154902091T>G | CA519355864 | F8 | c.6075A>C (p.Leu2025=) c.5970A>C (p.Leu1990=) | |
X | g.154902091dup | CA2695237881 | F8 | c.6075dup (p.His2026ThrfsTer14) c.5970dup (p.His1991ThrfsTer14) | |
X | g.154902092A>C | CA414904769 | F8 | c.6074T>G (p.Leu2025Arg) c.5969T>G (p.Leu1990Arg) | |
X | g.154902092A>G | CA414904772 | F8 | c.6074T>C (p.Leu2025Pro) c.5969T>C (p.Leu1990Pro) | |
X | g.154902092A>T | CA414904775 | F8 | c.6074T>A (p.Leu2025Gln) c.5969T>A (p.Leu1990Gln) | |
X | g.154902093G>A | CA519355871 | F8 | c.6073C>T (p.Leu2025=) c.5968C>T (p.Leu1990=) | gnomAD v4 |
X | g.154902093G>C | CA414904777 | F8 | c.6073C>G (p.Leu2025Val) c.5968C>G (p.Leu1990Val) | |
X | g.154902093G>T | CA414904780 | F8 | c.6073C>A (p.Leu2025Ile) c.5968C>A (p.Leu1990Ile) | |
X | g.154902094A>C | CA414904782 | F8 | c.6072T>G (p.His2024Gln) c.5967T>G (p.His1989Gln) | |
X | g.154902094A>G | CA519355873 | F8 | c.6072T>C (p.His2024=) c.5967T>C (p.His1989=) | |
X | g.154902094A>T | CA414904788 | F8 | c.6072T>A (p.His2024Gln) c.5967T>A (p.His1989Gln) | |
X | g.154902095T>A | CA414904795 | F8 | c.6071A>T (p.His2024Leu) c.5966A>T (p.His1989Leu) | |
X | g.154902095T>C | CA414904794 | F8 | c.6071A>G (p.His2024Arg) c.5966A>G (p.His1989Arg) | |
X | g.154902095T>G | CA414904790 | F8 | c.6071A>C (p.His2024Pro) c.5966A>C (p.His1989Pro) | |
X | g.154902096G>A | CA414904797 | F8 | c.6070C>T (p.His2024Tyr) c.5965C>T (p.His1989Tyr) | |
X | g.154902096G>C | CA414904798 | F8 | c.6070C>G (p.His2024Asp) c.5965C>G (p.His1989Asp) | |
X | g.154902096G>T | CA414904801 | F8 | c.6070C>A (p.His2024Asn) c.5965C>A (p.His1989Asn) | |
X | g.154902096dup | CA2695237882 | F8 | c.6070dup (p.His2024ProfsTer16) c.5965dup (p.His1989ProfsTer16) | |
X | g.154902097C>A | CA414904803 | F8 | c.6069G>T (p.Glu2023Asp) c.5964G>T (p.Glu1988Asp) | |
X | g.154902097C>G | CA414904805 | F8 | c.6069G>C (p.Glu2023Asp) c.5964G>C (p.Glu1988Asp) | |
X | g.154902097C>T | CA519355884 | F8 | c.6069G>A (p.Glu2023=) c.5964G>A (p.Glu1988=) | |
X | g.154902098T>A | CA414904808 | F8 | c.6068A>T (p.Glu2023Val) c.5963A>T (p.Glu1988Val) | |
X | g.154902098T>C | CA414904809 | F8 | c.6068A>G (p.Glu2023Gly) c.5963A>G (p.Glu1988Gly) | |
X | g.154902098T>G | CA414904810 | F8 | c.6068A>C (p.Glu2023Ala) c.5963A>C (p.Glu1988Ala) | |
X | g.154902099C>A | CA414904811 | F8 | c.6067G>T (p.Glu2023Ter) c.5962G>T (p.Glu1988Ter) | gnomAD v4 |
X | g.154902099C= | CA2466827633 | F8 | c.6067G= (p.Glu2023=) c.5962G= (p.Glu1988=) | |
X | g.154902099C>G | CA414904812 | F8 | c.6067G>C (p.Glu2023Gln) c.5962G>C (p.Glu1988Gln) | |
X | g.154902099C>T | CA10567913 | F8 | c.6067G>A (p.Glu2023Lys) c.5962G>A (p.Glu1988Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154902100G>A | CA519355892 | F8 | c.6066C>T (p.Gly2022=) c.5961C>T (p.Gly1987=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154902100G>C | CA519355893 | F8 | c.6066C>G (p.Gly2022=) c.5961C>G (p.Gly1987=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154902100G= | CA2466827634 | F8 | c.6066C= (p.Gly2022=) c.5961C= (p.Gly1987=) | |
X | g.154902100G>T | CA519355895 | F8 | c.6066C>A (p.Gly2022=) c.5961C>A (p.Gly1987=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154902101C>A | CA414904827 | F8 | c.6065G>T (p.Gly2022Val) c.5960G>T (p.Gly1987Val) | |
X | g.154902101C= | CA2466827635 | F8 | c.6065G= (p.Gly2022=) c.5960G= (p.Gly1987=) | |
X | g.154902101C>G | CA414904817 | F8 | c.6065G>C (p.Gly2022Ala) c.5960G>C (p.Gly1987Ala) | |
X | g.154902101C>T | CA414904814 | F8 | c.6065G>A (p.Gly2022Asp) c.5960G>A (p.Gly1987Asp) | dbSNP |
X | g.154902102C>A | CA414904831 | F8 | c.6064G>T (p.Gly2022Cys) c.5959G>T (p.Gly1987Cys) | |
X | g.154902102C>G | CA414904836 | F8 | c.6064G>C (p.Gly2022Arg) c.5959G>C (p.Gly1987Arg) | |
X | g.154902102C>T | CA414904839 | F8 | c.6064G>A (p.Gly2022Ser) c.5959G>A (p.Gly1987Ser) | |
X | g.154902103A>C | CA414904842 | F8 | c.6063T>G (p.Ile2021Met) c.5958T>G (p.Ile1986Met) | |
X | g.154902103A>G | CA519355909 | F8 | c.6063T>C (p.Ile2021=) c.5958T>C (p.Ile1986=) | |
X | g.154902103A>T | CA519355907 | F8 | c.6063T>A (p.Ile2021=) c.5958T>A (p.Ile1986=) | |
X | g.154902104A= | CA2466827636 | F8 | c.6062T= (p.Ile2021=) c.5957T= (p.Ile1986=) | |
X | g.154902104A>C | CA414904845 | F8 | c.6062T>G (p.Ile2021Ser) c.5957T>G (p.Ile1986Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154902104A>G | CA414904847 | F8 | c.6062T>C (p.Ile2021Thr) c.5957T>C (p.Ile1986Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154902104A>T | CA414904850 | F8 | c.6062T>A (p.Ile2021Asn) c.5957T>A (p.Ile1986Asn) | |
X | g.154902105T>A | CA414904852 | F8 | c.6061A>T (p.Ile2021Phe) c.5956A>T (p.Ile1986Phe) | |
X | g.154902105T>C | CA414904855 | F8 | c.6061A>G (p.Ile2021Val) c.5956A>G (p.Ile1986Val) | |
X | g.154902105T>G | CA414904857 | F8 | c.6061A>C (p.Ile2021Leu) c.5956A>C (p.Ile1986Leu) | |
X | g.154902106A>C | CA519355920 | F8 | c.6060T>G (p.Leu2020=) c.5955T>G (p.Leu1985=) | |
X | g.154902106A>G | CA519355922 | F8 | c.6060T>C (p.Leu2020=) c.5955T>C (p.Leu1985=) | |
X | g.154902106A>T | CA519355924 | F8 | c.6060T>A (p.Leu2020=) c.5955T>A (p.Leu1985=) | |
X | g.154902107A>C | CA414904861 | F8 | c.6059T>G (p.Leu2020Arg) c.5954T>G (p.Leu1985Arg) | |
X | g.154902107A>G | CA414904863 | F8 | c.6059T>C (p.Leu2020Pro) c.5954T>C (p.Leu1985Pro) | |
X | g.154902107A>T | CA414904866 | F8 | c.6059T>A (p.Leu2020His) c.5954T>A (p.Leu1985His) | |
X | g.154902108G>A | CA414904869 | F8 | c.6058C>T (p.Leu2020Phe) c.5953C>T (p.Leu1985Phe) | COSMIC COSMIC |
X | g.154902108G>C | CA414904874 | F8 | c.6058C>G (p.Leu2020Val) c.5953C>G (p.Leu1985Val) | |
X | g.154902108G>T | CA414904872 | F8 | c.6058C>A (p.Leu2020Ile) c.5953C>A (p.Leu1985Ile) | |
X | g.154902109G>A | CA519355936 | F8 | c.6057C>T (p.Cys2019=) c.5952C>T (p.Cys1984=) | |
X | g.154902109G>C | CA414904876 | F8 | c.6057C>G (p.Cys2019Trp) c.5952C>G (p.Cys1984Trp) | |
X | g.154902109G= | CA2466827637 | F8 | c.6057C= (p.Cys2019=) c.5952C= (p.Cys1984=) | |
X | g.154902109G>T | CA414904887 | F8 | c.6057C>A (p.Cys2019Ter) c.5952C>A (p.Cys1984Ter) | dbSNP |
X | g.154902110C>A | CA414904890 | F8 | c.6056G>T (p.Cys2019Phe) c.5951G>T (p.Cys1984Phe) | |
X | g.154902110C= | CA2466827638 | F8 | c.6056G= (p.Cys2019=) c.5951G= (p.Cys1984=) | |
X | g.154902110C>G | CA414904892 | F8 | c.6056G>C (p.Cys2019Ser) c.5951G>C (p.Cys1984Ser) | |
X | g.154902110C>T | CA414904894 | F8 | c.6056G>A (p.Cys2019Tyr) c.5951G>A (p.Cys1984Tyr) | dbSNP |
X | g.154902111A= | CA2466827639 | F8 | c.6055T= (p.Cys2019=) c.5950T= (p.Cys1984=) | |
X | g.154902111A>C | CA414904898 | F8 | c.6055T>G (p.Cys2019Gly) c.5950T>G (p.Cys1984Gly) | |
X | g.154902111A>G | CA414904903 | F8 | c.6055T>C (p.Cys2019Arg) c.5950T>C (p.Cys1984Arg) | dbSNP |
X | g.154902111A>T | CA414904904 | F8 | c.6055T>A (p.Cys2019Ser) c.5950T>A (p.Cys1984Ser) | gnomAD v4 |
X | g.154902112T>A | CA414904909 | F8 | c.6054A>T (p.Glu2018Asp) c.5949A>T (p.Glu1983Asp) | |
X | g.154902112T>C | CA519355947 | F8 | c.6054A>G (p.Glu2018=) c.5949A>G (p.Glu1983=) | |
X | g.154902112T>G | CA414904911 | F8 | c.6054A>C (p.Glu2018Asp) c.5949A>C (p.Glu1983Asp) | |
X | g.154902113T>A | CA414904919 | F8 | c.6053A>T (p.Glu2018Val) c.5948A>T (p.Glu1983Val) | |
X | g.154902113T>C | CA414904914 | F8 | c.6053A>G (p.Glu2018Gly) c.5948A>G (p.Glu1983Gly) | dbSNP |
X | g.154902113T>G | CA414904917 | F8 | c.6053A>C (p.Glu2018Ala) c.5948A>C (p.Glu1983Ala) | |
X | g.154902113T= | CA2466827640 | F8 | c.6053A= (p.Glu2018=) c.5948A= (p.Glu1983=) | |
X | g.154902114C>A | CA414904922 | F8 | c.6052G>T (p.Glu2018Ter) c.5947G>T (p.Glu1983Ter) | dbSNP |
X | g.154902114C= | CA2466827641 | F8 | c.6052G= (p.Glu2018=) c.5947G= (p.Glu1983=) | |
X | g.154902114C>G | CA414904927 | F8 | c.6052G>C (p.Glu2018Gln) c.5947G>C (p.Glu1983Gln) | |
X | g.154902114C>T | CA414904925 | F8 | c.6052G>A (p.Glu2018Lys) c.5947G>A (p.Glu1983Lys) | ClinVar |
X | g.154902115del | CA2695237886 | F8 | c.6052del (p.Glu2018AsnfsTer12) c.5947del (p.Glu1983AsnfsTer12) | |
X | g.154902115C>A | CA519355949 | F8 | c.6051G>T (p.Val2017=) c.5946G>T (p.Val1982=) | |
X | g.154902115C>G | CA519355950 | F8 | c.6051G>C (p.Val2017=) c.5946G>C (p.Val1982=) | gnomAD v4 |
X | g.154902115C>T | CA519355951 | F8 | c.6051G>A (p.Val2017=) c.5946G>A (p.Val1982=) | gnomAD v4 COSMIC COSMIC |
X | g.154902116A= | CA2466827643 | F8 | c.6050T= (p.Val2017=) c.5945T= (p.Val1982=) | |
X | g.154902116A>C | CA414904930 | F8 | c.6050T>G (p.Val2017Gly) c.5945T>G (p.Val1982Gly) | |
X | g.154902116A>G | CA414904934 | F8 | c.6050T>C (p.Val2017Ala) c.5945T>C (p.Val1982Ala) | dbSNP |
X | g.154902116A>T | CA414904931 | F8 | c.6050T>A (p.Val2017Glu) c.5945T>A (p.Val1982Glu) | |
X | g.154902116_154902117delinsAC | CA2466827642 | F8 | c.6049_6050delinsGT (p.Val2017=) c.5944_5945delinsGT (p.Val1982=) | |
X | g.154902117C>A | CA414904937 | F8 | c.6049G>T (p.Val2017Leu) c.5944G>T (p.Val1982Leu) | |
X | g.154902117C= | CA2466827644 | F8 | c.6049G= (p.Val2017=) c.5944G= (p.Val1982=) | |
X | g.154902117C>G | CA414904939 | F8 | c.6049G>C (p.Val2017Leu) c.5944G>C (p.Val1982Leu) | |
X | g.154902117C>T | CA414904941 | F8 | c.6049G>A (p.Val2017Met) c.5944G>A (p.Val1982Met) | dbSNP gnomAD v4 |
X | g.154902119del | CA255194 | F8 | c.6049del (p.Val2017TrpfsTer13) c.5944del (p.Val1982TrpfsTer13) | ClinVar dbSNP |
X | g.154902118C>A | CA519355953 | F8 | c.6048G>T (p.Arg2016=) c.5943G>T (p.Arg1981=) | gnomAD v4 |
X | g.154902118C>G | CA519355955 | F8 | c.6048G>C (p.Arg2016=) c.5943G>C (p.Arg1981=) | |
X | g.154902118C>T | CA519355954 | F8 | c.6048G>A (p.Arg2016=) c.5943G>A (p.Arg1981=) | dbSNP |
X | g.154902119C>A | CA414904946 | F8 | c.6047G>T (p.Arg2016Leu) c.5942G>T (p.Arg1981Leu) | dbSNP |
X | g.154902119C= | CA2466827645 | F8 | c.6047G= (p.Arg2016=) c.5942G= (p.Arg1981=) | |
X | g.154902119C>G | CA414904949 | F8 | c.6047G>C (p.Arg2016Pro) c.5942G>C (p.Arg1981Pro) | |
X | g.154902119C>T | CA414904951 | F8 | c.6047G>A (p.Arg2016Gln) c.5942G>A (p.Arg1981Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.154902120G>A | CA255197 | F8 | c.6046C>T (p.Arg2016Trp) c.5941C>T (p.Arg1981Trp) | ClinVar dbSNP gnomAD v4 |
X | g.154902120G>C | CA414904955 | F8 | c.6046C>G (p.Arg2016Gly) c.5941C>G (p.Arg1981Gly) | |
X | g.154902120G= | CA2466827646 | F8 | c.6046C= (p.Arg2016=) c.5941C= (p.Arg1981=) | |
X | g.154902120G>T | CA519355956 | F8 | c.6046C>A (p.Arg2016=) c.5941C>A (p.Arg1981=) | |
X | g.154902121C>A | CA414904961 | F8 | c.6045G>T (p.Trp2015Cys) c.5940G>T (p.Trp1980Cys) | dbSNP |
X | g.154902121C= | CA2466827647 | F8 | c.6045G= (p.Trp2015=) c.5940G= (p.Trp1980=) | |
X | g.154902121C>G | CA414904960 | F8 | c.6045G>C (p.Trp2015Cys) c.5940G>C (p.Trp1980Cys) | |
X | g.154902121C>T | CA414904959 | F8 | c.6045G>A (p.Trp2015Ter) c.5940G>A (p.Trp1980Ter) | |
X | g.154902122C>A | CA414904963 | F8 | c.6044G>T (p.Trp2015Leu) c.5939G>T (p.Trp1980Leu) | |
X | g.154902122C= | CA2466827648 | F8 | c.6044G= (p.Trp2015=) c.5939G= (p.Trp1980=) | |
X | g.154902122C>G | CA414904964 | F8 | c.6044G>C (p.Trp2015Ser) c.5939G>C (p.Trp1980Ser) | |
X | g.154902122C>T | CA414904965 | F8 | c.6044G>A (p.Trp2015Ter) c.5939G>A (p.Trp1980Ter) | dbSNP |
X | g.154902123A= | CA2466827649 | F8 | c.6043T= (p.Trp2015=) c.5938T= (p.Trp1980=) | |
X | g.154902123A>C | CA414904967 | F8 | c.6043T>G (p.Trp2015Gly) c.5938T>G (p.Trp1980Gly) | |
X | g.154902123A>G | CA414904969 | F8 | c.6043T>C (p.Trp2015Arg) c.5938T>C (p.Trp1980Arg) | ClinVar dbSNP |
X | g.154902123A>T | CA414904970 | F8 | c.6043T>A (p.Trp2015Arg) c.5938T>A (p.Trp1980Arg) | |
X | g.154902124A>C | CA414904972 | F8 | c.6042T>G (p.Ile2014Met) c.5937T>G (p.Ile1979Met) | |
X | g.154902124A>G | CA519355957 | F8 | c.6042T>C (p.Ile2014=) c.5937T>C (p.Ile1979=) | |
X | g.154902124A>T | CA519355958 | F8 | c.6042T>A (p.Ile2014=) c.5937T>A (p.Ile1979=) | |
X | g.154902125A>C | CA414904976 | F8 | c.6041T>G (p.Ile2014Ser) c.5936T>G (p.Ile1979Ser) | |
X | g.154902125A>G | CA414904978 | F8 | c.6041T>C (p.Ile2014Thr) c.5936T>C (p.Ile1979Thr) | |
X | g.154902125A>T | CA414904979 | F8 | c.6041T>A (p.Ile2014Asn) c.5936T>A (p.Ile1979Asn) | |
X | g.154902128_154902148del | CA2695237888 | F8 | c.6021_6041del (p.Met2007_Gly2013del) c.5916_5936del (p.Met1972_Gly1978del) | |
X | g.154902126T>A | CA414904985 | F8 | c.6040A>T (p.Ile2014Phe) c.5935A>T (p.Ile1979Phe) | |
X | g.154902126T>C | CA414904982 | F8 | c.6040A>G (p.Ile2014Val) c.5935A>G (p.Ile1979Val) | |
X | g.154902126T>G | CA414904981 | F8 | c.6040A>C (p.Ile2014Leu) c.5935A>C (p.Ile1979Leu) | |
X | g.154902127T>A | CA519355959 | F8 | c.6039A>T (p.Gly2013=) c.5934A>T (p.Gly1978=) | |
X | g.154902127T>C | CA519355960 | F8 | c.6039A>G (p.Gly2013=) c.5934A>G (p.Gly1978=) | |
X | g.154902127T>G | CA519355961 | F8 | c.6039A>C (p.Gly2013=) c.5934A>C (p.Gly1978=) | |
X | g.154902128C>A | CA414904987 | F8 | c.6038G>T (p.Gly2013Val) c.5933G>T (p.Gly1978Val) | |
X | g.154902128C>G | CA414904988 | F8 | c.6038G>C (p.Gly2013Ala) c.5933G>C (p.Gly1978Ala) | |
X | g.154902128C>T | CA414904993 | F8 | c.6038G>A (p.Gly2013Glu) c.5933G>A (p.Gly1978Glu) | |
X | g.154902129C>A | CA414904996 | F8 | c.6037G>T (p.Gly2013Ter) c.5932G>T (p.Gly1978Ter) | |
X | g.154902129C>G | CA414904997 | F8 | c.6037G>C (p.Gly2013Arg) c.5932G>C (p.Gly1978Arg) | |
X | g.154902129C>T | CA414904999 | F8 | c.6037G>A (p.Gly2013Arg) c.5932G>A (p.Gly1978Arg) | |
X | g.154902130A>C | CA519355963 | F8 | c.6036T>G (p.Ala2012=) c.5931T>G (p.Ala1977=) | |
X | g.154902130A>G | CA519355964 | F8 | c.6036T>C (p.Ala2012=) c.5931T>C (p.Ala1977=) | |
X | g.154902130A>T | CA519355965 | F8 | c.6036T>A (p.Ala2012=) c.5931T>A (p.Ala1977=) | |
X | g.154902131G>A | CA414905001 | F8 | c.6035C>T (p.Ala2012Val) c.5930C>T (p.Ala1977Val) | |
X | g.154902131G>C | CA414905003 | F8 | c.6035C>G (p.Ala2012Gly) c.5930C>G (p.Ala1977Gly) | |
X | g.154902131G>T | CA414905005 | F8 | c.6035C>A (p.Ala2012Asp) c.5930C>A (p.Ala1977Asp) | |
X | g.154902132C>A | CA414905008 | F8 | c.6034G>T (p.Ala2012Ser) c.5929G>T (p.Ala1977Ser) | |
X | g.154902132C>G | CA414905011 | F8 | c.6034G>C (p.Ala2012Pro) c.5929G>C (p.Ala1977Pro) | |
X | g.154902132C>T | CA414905016 | F8 | c.6034G>A (p.Ala2012Thr) c.5929G>A (p.Ala1977Thr) | |
X | g.154902133T>A | CA414905017 | F8 | c.6033A>T (p.Lys2011Asn) c.5928A>T (p.Lys1976Asn) | |
X | g.154902133T>C | CA519355966 | F8 | c.6033A>G (p.Lys2011=) c.5928A>G (p.Lys1976=) | |
X | g.154902133T>G | CA414905018 | F8 | c.6033A>C (p.Lys2011Asn) c.5928A>C (p.Lys1976Asn) | |
X | g.154902134T>A | CA414905021 | F8 | c.6032A>T (p.Lys2011Ile) c.5927A>T (p.Lys1976Ile) | |
X | g.154902134T>C | CA414905023 | F8 | c.6032A>G (p.Lys2011Arg) c.5927A>G (p.Lys1976Arg) | |
X | g.154902134T>G | CA414905025 | F8 | c.6032A>C (p.Lys2011Thr) c.5927A>C (p.Lys1976Thr) | |
X | g.154902135T>A | CA414905028 | F8 | c.6031A>T (p.Lys2011Ter) c.5926A>T (p.Lys1976Ter) | |
X | g.154902135T>C | CA414905029 | F8 | c.6031A>G (p.Lys2011Glu) c.5926A>G (p.Lys1976Glu) | |
X | g.154902135T>G | CA414905035 | F8 | c.6031A>C (p.Lys2011Gln) c.5926A>C (p.Lys1976Gln) | |
X | g.154902135_154902136insCTTCCTTTCT | CA2520132336 | F8 | c.6031_6032insGAAAGGAAGA (p.Lys2011ArgfsTer32) c.5926_5927insGAAAGGAAGA (p.Lys1976ArgfsTer32) | |
X | g.154902136G>A | CA10567914 | F8 | c.6030C>T (p.Ser2010=) c.5925C>T (p.Ser1975=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154902136G>C | CA519355968 | F8 | c.6030C>G (p.Ser2010=) c.5925C>G (p.Ser1975=) | |
X | g.154902136G= | CA2466827650 | F8 | c.6030C= (p.Ser2010=) c.5925C= (p.Ser1975=) | |
X | g.154902136G>T | CA519355969 | F8 | c.6030C>A (p.Ser2010=) c.5925C>A (p.Ser1975=) | |
X | g.154902137del | CA2695237890 | F8 | c.6030del (p.Ala2012LeufsTer18) c.5925del (p.Ala1977LeufsTer18) | |
X | g.154902137G>A | CA414905039 | F8 | c.6029C>T (p.Ser2010Phe) c.5924C>T (p.Ser1975Phe) | |
X | g.154902137G>C | CA414905040 | F8 | c.6029C>G (p.Ser2010Cys) c.5924C>G (p.Ser1975Cys) | |
X | g.154902137G= | CA2466827651 | F8 | c.6029C= (p.Ser2010=) c.5924C= (p.Ser1975=) | |
X | g.154902137G>T | CA414905042 | F8 | c.6029C>A (p.Ser2010Tyr) c.5924C>A (p.Ser1975Tyr) | gnomAD v4 |
X | g.154902138del | CA2695237891 | F8 | c.6028del (p.Ser2010ProfsTer20) c.5923del (p.Ser1975ProfsTer20) | |
X | g.154902138A= | CA2466827652 | F8 | c.6028T= (p.Ser2010=) c.5923T= (p.Ser1975=) | |
X | g.154902138A>C | CA414905050 | F8 | c.6028T>G (p.Ser2010Ala) c.5923T>G (p.Ser1975Ala) | |
X | g.154902138A>G | CA414905047 | F8 | c.6028T>C (p.Ser2010Pro) c.5923T>C (p.Ser1975Pro) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154902138A>T | CA414905045 | F8 | c.6028T>A (p.Ser2010Thr) c.5923T>A (p.Ser1975Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154902138dup | CA873340122 | F8 | c.6028dup (p.Ser2010PhefsTer30) c.5923dup (p.Ser1975PhefsTer30) | dbSNP |
X | g.154902139T>A | CA519355972 | F8 | c.6027A>T (p.Pro2009=) c.5922A>T (p.Pro1974=) | |
X | g.154902139T>C | CA519355971 | F8 | c.6027A>G (p.Pro2009=) c.5922A>G (p.Pro1974=) | |
X | g.154902139T>G | CA519355970 | F8 | c.6027A>C (p.Pro2009=) c.5922A>C (p.Pro1974=) | gnomAD v4 |
X | g.154902140G>A | CA414905054 | F8 | c.6026C>T (p.Pro2009Leu) c.5921C>T (p.Pro1974Leu) | |
X | g.154902140G>C | CA414905053 | F8 | c.6026C>G (p.Pro2009Arg) c.5921C>G (p.Pro1974Arg) | |
X | g.154902140G>T | CA414905058 | F8 | c.6026C>A (p.Pro2009Gln) c.5921C>A (p.Pro1974Gln) | |
X | g.154902141G>A | CA414905060 | F8 | c.6025C>T (p.Pro2009Ser) c.5920C>T (p.Pro1974Ser) | dbSNP |
X | g.154902141G>C | CA414905062 | F8 | c.6025C>G (p.Pro2009Ala) c.5920C>G (p.Pro1974Ala) | |
X | g.154902141G= | CA2466827653 | F8 | c.6025C= (p.Pro2009=) c.5920C= (p.Pro1974=) | |
X | g.154902141G>T | CA414905064 | F8 | c.6025C>A (p.Pro2009Thr) c.5920C>A (p.Pro1974Thr) | |
X | g.154902142T>A | CA414905068 | F8 | c.6024A>T (p.Leu2008Phe) c.5919A>T (p.Leu1973Phe) | |
X | g.154902142T>C | CA519355976 | F8 | c.6024A>G (p.Leu2008=) c.5919A>G (p.Leu1973=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.154902142T>G | CA414905070 | F8 | c.6024A>C (p.Leu2008Phe) c.5919A>C (p.Leu1973Phe) | |
X | g.154902142T= | CA2466827654 | F8 | c.6024A= (p.Leu2008=) c.5919A= (p.Leu1973=) | |
X | g.154902143A>C | CA414905071 | F8 | c.6023T>G (p.Leu2008Ter) c.5918T>G (p.Leu1973Ter) | |
X | g.154902143A>G | CA414905072 | F8 | c.6023T>C (p.Leu2008Ser) c.5918T>C (p.Leu1973Ser) | |
X | g.154902143A>T | CA414905073 | F8 | c.6023T>A (p.Leu2008Ter) c.5918T>A (p.Leu1973Ter) | |
X | g.154902144A>C | CA414905074 | F8 | c.6022T>G (p.Leu2008Val) c.5917T>G (p.Leu1973Val) | |
X | g.154902144A>G | CA519355977 | F8 | c.6022T>C (p.Leu2008=) c.5917T>C (p.Leu1973=) | |
X | g.154902144A>T | CA414905075 | F8 | c.6022T>A (p.Leu2008Ile) c.5917T>A (p.Leu1973Ile) | |
X | g.154902145del | CA2695237894 | F8 | c.6021del (p.Met2007IlefsTer23) c.5916del (p.Met1972IlefsTer23) | |
X | g.154902145C>A | CA414905080 | F8 | c.6021G>T (p.Met2007Ile) c.5916G>T (p.Met1972Ile) | |
X | g.154902145C>G | CA414905078 | F8 | c.6021G>C (p.Met2007Ile) c.5916G>C (p.Met1972Ile) | |
X | g.154902145C>T | CA414905076 | F8 | c.6021G>A (p.Met2007Ile) c.5916G>A (p.Met1972Ile) | |
X | g.154902146del | CA2573055177 | F8 | c.6020del (p.Met2007SerfsTer23) c.5915del (p.Met1972SerfsTer23) | ClinVar dbSNP |
X | g.154902146A= | CA2466827655 | F8 | c.6020T= (p.Met2007=) c.5915T= (p.Met1972=) | |
X | g.154902146A>C | CA414905081 | F8 | c.6020T>G (p.Met2007Arg) c.5915T>G (p.Met1972Arg) | |
X | g.154902146A>G | CA414905083 | F8 | c.6020T>C (p.Met2007Thr) c.5915T>C (p.Met1972Thr) | dbSNP |
X | g.154902146A>T | CA414905085 | F8 | c.6020T>A (p.Met2007Lys) c.5915T>A (p.Met1972Lys) | |
X | g.154902147T>A | CA414905086 | F8 | c.6019A>T (p.Met2007Leu) c.5914A>T (p.Met1972Leu) | |
X | g.154902147T>C | CA414905087 | F8 | c.6019A>G (p.Met2007Val) c.5914A>G (p.Met1972Val) | |
X | g.154902147T>G | CA414905090 | F8 | c.6019A>C (p.Met2007Leu) c.5914A>C (p.Met1972Leu) | |
X | g.154902149dup | CA2695237896 | F8 | c.6019dup (p.Met2007AsnfsTer?) c.5914dup (p.Met1972AsnfsTer?) | |
X | g.154902148T>A | CA414905093 | F8 | c.6018A>T (p.Glu2006Asp) c.5913A>T (p.Glu1971Asp) | dbSNP |
X | g.154902148T>C | CA519355978 | F8 | c.6018A>G (p.Glu2006=) c.5913A>G (p.Glu1971=) | |
X | g.154902148T>G | CA414905094 | F8 | c.6018A>C (p.Glu2006Asp) c.5913A>C (p.Glu1971Asp) | |
X | g.154902148T= | CA2466827656 | F8 | c.6018A= (p.Glu2006=) c.5913A= (p.Glu1971=) | |
X | g.154902149T>A | CA414905098 | F8 | c.6017A>T (p.Glu2006Val) c.5912A>T (p.Glu1971Val) | |
X | g.154902149T>C | CA414905100 | F8 | c.6017A>G (p.Glu2006Gly) c.5912A>G (p.Glu1971Gly) | |
X | g.154902149T>G | CA414905103 | F8 | c.6017A>C (p.Glu2006Ala) c.5912A>C (p.Glu1971Ala) | |
X | g.154902150C>A | CA255195 | F8 | c.6016G>T (p.Glu2006Ter) c.5911G>T (p.Glu1971Ter) | ClinVar dbSNP |
X | g.154902150C= | CA2466827657 | F8 | c.6016G= (p.Glu2006=) c.5911G= (p.Glu1971=) | |
X | g.154902150C>G | CA414905110 | F8 | c.6016G>C (p.Glu2006Gln) c.5911G>C (p.Glu1971Gln) | |
X | g.154902150C>T | CA414905108 | F8 | c.6016G>A (p.Glu2006Lys) c.5911G>A (p.Glu1971Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.154902151C>A | CA519355979 | F8 | c.6015G>T (p.Val2005=) c.5910G>T (p.Val1970=) | |
X | g.154902151C= | CA2466827658 | F8 | c.6015G= (p.Val2005=) c.5910G= (p.Val1970=) | |
X | g.154902151C>G | CA519355980 | F8 | c.6015G>C (p.Val2005=) c.5910G>C (p.Val1970=) | |
X | g.154902151C>T | CA519355981 | F8 | c.6015G>A (p.Val2005=) c.5910G>A (p.Val1970=) | dbSNP |
X | g.154902152A>C | CA414905117 | F8 | c.6014T>G (p.Val2005Gly) c.5909T>G (p.Val1970Gly) | |
X | g.154902152A>G | CA414905121 | F8 | c.6014T>C (p.Val2005Ala) c.5909T>C (p.Val1970Ala) | |
X | g.154902152A>T | CA414905123 | F8 | c.6014T>A (p.Val2005Glu) c.5909T>A (p.Val1970Glu) | |
X | g.154902153C>A | CA414905126 | F8 | c.6013G>T (p.Val2005Leu) c.5908G>T (p.Val1970Leu) | |
X | g.154902153C>G | CA414905128 | F8 | c.6013G>C (p.Val2005Leu) c.5908G>C (p.Val1970Leu) | |
X | g.154902153C>T | CA414905130 | F8 | c.6013G>A (p.Val2005Met) c.5908G>A (p.Val1970Met) | gnomAD v4 |
X | g.154902154T>A | CA519355983 | F8 | c.6012A>T (p.Thr2004=) c.5907A>T (p.Thr1969=) | |
X | g.154902154T>C | CA337317659 | F8 | c.6012A>G (p.Thr2004=) c.5907A>G (p.Thr1969=) | dbSNP gnomAD v4 |
X | g.154902154T>G | CA519355984 | F8 | c.6012A>C (p.Thr2004=) c.5907A>C (p.Thr1969=) | |
X | g.154902154T= | CA2466827659 | F8 | c.6012A= (p.Thr2004=) c.5907A= (p.Thr1969=) | |
X | g.154902155G>A | CA414905135 | F8 | c.6011C>T (p.Thr2004Ile) c.5906C>T (p.Thr1969Ile) | dbSNP |
X | g.154902155G>C | CA414905139 | F8 | c.6011C>G (p.Thr2004Arg) c.5906C>G (p.Thr1969Arg) | |
X | g.154902155G= | CA2466827660 | F8 | c.6011C= (p.Thr2004=) c.5906C= (p.Thr1969=) | |
X | g.154902155G>T | CA414905140 | F8 | c.6011C>A (p.Thr2004Lys) c.5906C>A (p.Thr1969Lys) | gnomAD v4 |
X | g.154902156T>A | CA414905142 | F8 | c.6010A>T (p.Thr2004Ser) c.5905A>T (p.Thr1969Ser) | |
X | g.154902156T>C | CA414905143 | F8 | c.6010A>G (p.Thr2004Ala) c.5905A>G (p.Thr1969Ala) | ClinVar |
X | g.154902156T>G | CA414905144 | F8 | c.6010A>C (p.Thr2004Pro) c.5905A>C (p.Thr1969Pro) | dbSNP |
X | g.154902156T= | CA2466827661 | F8 | c.6010A= (p.Thr2004=) c.5905A= (p.Thr1969=) | |
X | g.154902157C>A | CA414905145 | F8 | c.6009G>T (p.Glu2003Asp) c.5904G>T (p.Glu1968Asp) | |
X | g.154902157C>G | CA414905147 | F8 | c.6009G>C (p.Glu2003Asp) c.5904G>C (p.Glu1968Asp) | |
X | g.154902157C>T | CA519355987 | F8 | c.6009G>A (p.Glu2003=) c.5904G>A (p.Glu1968=) | |
X | g.154902158T>A | CA414905152 | F8 | c.6008A>T (p.Glu2003Val) c.5903A>T (p.Glu1968Val) | |
X | g.154902158T>C | CA414905153 | F8 | c.6008A>G (p.Glu2003Gly) c.5903A>G (p.Glu1968Gly) | |
X | g.154902158T>G | CA414905155 | F8 | c.6008A>C (p.Glu2003Ala) c.5903A>C (p.Glu1968Ala) | |
X | g.154902159C>A | CA414905158 | F8 | c.6007G>T (p.Glu2003Ter) c.5902G>T (p.Glu1968Ter) | |
X | g.154902159C= | CA2466827662 | F8 | c.6007G= (p.Glu2003=) c.5902G= (p.Glu1968=) | |
X | g.154902159C>G | CA414905160 | F8 | c.6007G>C (p.Glu2003Gln) c.5902G>C (p.Glu1968Gln) | |
X | g.154902159C>T | CA414905161 | F8 | c.6007G>A (p.Glu2003Lys) c.5902G>A (p.Glu1968Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154902159delinsAA | CA2695237900 | F8 | c.6007delinsTT (p.Glu2003LeufsTer?) c.5902delinsTT (p.Glu1968LeufsTer?) | |
X | g.154902160A>C | CA414905169 | F8 | c.6006T>G (p.Phe2002Leu) c.5901T>G (p.Phe1967Leu) | |
X | g.154902160A>G | CA519355988 | F8 | c.6006T>C (p.Phe2002=) c.5901T>C (p.Phe1967=) | gnomAD v4 |
X | g.154902160A>T | CA414905174 | F8 | c.6006T>A (p.Phe2002Leu) c.5901T>A (p.Phe1967Leu) | |
X | g.154902164dup | CA2695237901 | F8 | c.6006dup (p.Glu2003Ter) c.5901dup (p.Glu1968Ter) | |
X | g.154902164del | CA2579744481 | F8 | c.6006del (p.Phe2002LeufsTer28) c.5901del (p.Phe1967LeufsTer28) | gnomAD v4 |
X | g.154902162_154902177del | CA2695237902 | F8 | c.5999-8_6006del c.5894-8_5901del | |
X | g.154902161A>C | CA414905177 | F8 | c.6005T>G (p.Phe2002Cys) c.5900T>G (p.Phe1967Cys) | |
X | g.154902161A>G | CA414905178 | F8 | c.6005T>C (p.Phe2002Ser) c.5900T>C (p.Phe1967Ser) | |
X | g.154902161A>T | CA414905180 | F8 | c.6005T>A (p.Phe2002Tyr) c.5900T>A (p.Phe1967Tyr) | |
X | g.154902162A>C | CA414905186 | F8 | c.6004T>G (p.Phe2002Val) c.5899T>G (p.Phe1967Val) | |
X | g.154902162A>G | CA414905193 | F8 | c.6004T>C (p.Phe2002Leu) c.5899T>C (p.Phe1967Leu) | |
X | g.154902162A>T | CA414905183 | F8 | c.6004T>A (p.Phe2002Ile) c.5899T>A (p.Phe1967Ile) | |
X | g.154902163A>C | CA519355989 | F8 | c.6003T>G (p.Val2001=) c.5898T>G (p.Val1966=) | |
X | g.154902163A>G | CA519355990 | F8 | c.6003T>C (p.Val2001=) c.5898T>C (p.Val1966=) | gnomAD v4 |
X | g.154902163A>T | CA519355991 | F8 | c.6003T>A (p.Val2001=) c.5898T>A (p.Val1966=) | |
X | g.154902163_154902170delinsAACACCTT | CA2466827663 | F8 | c.5999-3_6003delinsAAGGTGTT c.5894-3_5898delinsAAGGTGTT | |
X | g.154902167_154902189del | CA2695237903 | F8 | c.5999-18_6003del c.5894-18_5898del | |
X | g.154902164A>C | CA414905195 | F8 | c.6002T>G (p.Val2001Gly) c.5897T>G (p.Val1966Gly) | |
X | g.154902164A>G | CA414905200 | F8 | c.6002T>C (p.Val2001Ala) c.5897T>C (p.Val1966Ala) | |
X | g.154902164A>T | CA414905198 | F8 | c.6002T>A (p.Val2001Asp) c.5897T>A (p.Val1966Asp) | |
X | g.154902165_154902171del | CA873340145 | F8 | c.5999-3_6002del c.5894-3_5897del | dbSNP |
X | g.154902165C>A | CA414905204 | F8 | c.6001G>T (p.Val2001Phe) c.5896G>T (p.Val1966Phe) | |
X | g.154902165C>G | CA414905213 | F8 | c.6001G>C (p.Val2001Leu) c.5896G>C (p.Val1966Leu) | gnomAD v4 |
X | g.154902165C>T | CA414905211 | F8 | c.6001G>A (p.Val2001Ile) c.5896G>A (p.Val1966Ile) | |
X | g.154902166A>C | CA519355993 | F8 | c.6000T>G (p.Gly2000=) c.5895T>G (p.Gly1965=) | |
X | g.154902166A>G | CA519355992 | F8 | c.6000T>C (p.Gly2000=) c.5895T>C (p.Gly1965=) | gnomAD v4 |
X | g.154902166A>T | CA519355994 | F8 | c.6000T>A (p.Gly2000=) c.5895T>A (p.Gly1965=) | |
X | g.154902167C>A | CA414905214 | F8 | c.5999G>T (p.Gly2000Val) c.5894G>T (p.Gly1965Val) | ClinVar dbSNP gnomAD v4 |
X | g.154902167C= | CA2466827664 | F8 | c.5999G= (p.Gly2000=) c.5894G= (p.Gly1965=) | |
X | g.154902167C>G | CA414905225 | F8 | c.5999G>C (p.Gly2000Ala) c.5894G>C (p.Gly1965Ala) | ClinVar dbSNP |
X | g.154902167C>T | CA414905222 | F8 | c.5999G>A (p.Gly2000Asp) c.5894G>A (p.Gly1965Asp) | |
X | g.154902168C>A | CA414905229 | F8 | c.5999-1G>T (n.5999-1G>T) c.5894-1G>T (n.5894-1G>T) | |
X | g.154902168C>G | CA414905235 | F8 | c.5999-1G>C (n.5999-1G>C) c.5894-1G>C (n.5894-1G>C) | |
X | g.154902168C>T | CA414905232 | F8 | c.5999-1G>A (n.5999-1G>A) c.5894-1G>A (n.5894-1G>A) | ClinVar gnomAD v4 |
X | g.154902168_154902169del | CA2695237905 | F8 | c.5999-2_5999-1del (n.5999-2_5999-1del) c.5894-2_5894-1del (n.5894-2_5894-1del) | |
X | g.154902169T>A | CA414905237 | F8 | c.5999-2A>T (n.5999-2A>T) c.5894-2A>T (n.5894-2A>T) | gnomAD v4 COSMIC COSMIC |
X | g.154902169T>C | CA414905242 | F8 | c.5999-2A>G (n.5999-2A>G) c.5894-2A>G (n.5894-2A>G) | gnomAD v4 |
X | g.154902169T>G | CA414905244 | F8 | c.5999-2A>C (n.5999-2A>C) c.5894-2A>C (n.5894-2A>C) | ClinVar dbSNP |
X | g.154902170del | CA2579744482 | F8 | c.5999-2del (n.5999-2del) c.5894-2del (n.5894-2del) | |
X | g.154902170T>C | CA2695152874 | F8 | c.5999-3A>G (n.5999-3A>G) c.5894-3A>G (n.5894-3A>G) | gnomAD v4 |
X | g.154902171A>G | CA2695152875 | F8 | c.5999-4T>C (n.5999-4T>C) c.5894-4T>C (n.5894-4T>C) | gnomAD v4 |
X | g.154902173A= | CA2466827665 | F8 | c.5999-6T= (n.5999-6T=) c.5894-6T= (n.5894-6T=) | |
X | g.154902173A>G | CA10567915 | F8 | c.5999-6T>C (n.5999-6T>C) c.5894-6T>C (n.5894-6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154902177dup | CA2579744483 | F8 | c.5999-6dup (n.5999-6dup) c.5894-6dup (n.5894-6dup) | |
X | g.154902175A>G | CA2695152876 | F8 | c.5999-8T>C (n.5999-8T>C) c.5894-8T>C (n.5894-8T>C) | gnomAD v4 |
X | g.154902177A>G | CA2695152877 | F8 | c.5999-10T>C (n.5999-10T>C) c.5894-10T>C (n.5894-10T>C) | gnomAD v4 |
X | g.154902178C= | CA2466827666 | F8 | c.5999-11G= (n.5999-11G=) c.5894-11G= (n.5894-11G=) | |
X | g.154902178C>T | CA10567916 | F8 | c.5999-11G>A (n.5999-11G>A) c.5894-11G>A (n.5894-11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154902179C>A | CA2579744484 | F8 | c.5999-12G>T (n.5999-12G>T) c.5894-12G>T (n.5894-12G>T) | gnomAD v4 |
X | g.154902179C= | CA2466827667 | F8 | c.5999-12G= (n.5999-12G=) c.5894-12G= (n.5894-12G=) | |
X | g.154902179C>T | CA2466827668 | F8 | c.5999-12G>A (n.5999-12G>A) c.5894-12G>A (n.5894-12G>A) | dbSNP gnomAD v4 |
X | g.154902180A>G | CA2579744485 | F8 | c.5999-13T>C (n.5999-13T>C) c.5894-13T>C (n.5894-13T>C) | |
X | g.154902181A>C | CA2695152878 | F8 | c.5999-14T>G (n.5999-14T>G) c.5894-14T>G (n.5894-14T>G) | gnomAD v4 |
X | g.154902181A>G | CA2695152879 | F8 | c.5999-14T>C (n.5999-14T>C) c.5894-14T>C (n.5894-14T>C) | gnomAD v4 |
X | g.154902183A>G | CA2695152880 | F8 | c.5999-16T>C (n.5999-16T>C) c.5894-16T>C (n.5894-16T>C) | gnomAD v4 |
X | g.154902184G>A | CA2695152881 | F8 | c.5999-17C>T (n.5999-17C>T) c.5894-17C>T (n.5894-17C>T) | gnomAD v4 |
X | g.154902184G>T | CA2695152882 | F8 | c.5999-17C>A (n.5999-17C>A) c.5894-17C>A (n.5894-17C>A) | gnomAD v4 |
X | g.154902185G>T | CA2579744486 | F8 | c.5999-18C>A (n.5999-18C>A) c.5894-18C>A (n.5894-18C>A) | gnomAD v4 |
X | g.154902187A>G | CA2695152883 | F8 | c.5999-20T>C (n.5999-20T>C) c.5894-20T>C (n.5894-20T>C) | gnomAD v4 |
X | g.154902188C>A | CA2579744487 | F8 | c.5999-21G>T (n.5999-21G>T) c.5894-21G>T (n.5894-21G>T) | gnomAD v4 |
X | g.154902188C= | CA2466827669 | F8 | c.5999-21G= (n.5999-21G=) c.5894-21G= (n.5894-21G=) | |
X | g.154902188C>G | CA873340151 | F8 | c.5999-21G>C (n.5999-21G>C) c.5894-21G>C (n.5894-21G>C) | dbSNP |
X | g.154902190_154902191del | CA2695237907 | F8 | c.5999-23_5999-22del (n.5999-23_5999-22del) c.5894-23_5894-22del (n.5894-23_5894-22del) | |
X | g.154902189_154902200delinsGAAT | CA2695237908 | F8 | c.5999-33_5999-22delinsATTC (n.5999-33_5999-22delinsATTC) c.5894-33_5894-22delinsATTC (n.5894-33_5894-22delinsATTC) | |
X | g.154902190G>A | CA2579744488 | F8 | c.5999-23C>T (n.5999-23C>T) c.5894-23C>T (n.5894-23C>T) | |
X | g.154902190G>T | CA2695152884 | F8 | c.5999-23C>A (n.5999-23C>A) c.5894-23C>A (n.5894-23C>A) | gnomAD v4 |
X | g.154902191A>C | CA2695237909 | F8 | c.5999-24T>G (n.5999-24T>G) c.5894-24T>G (n.5894-24T>G) |