Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.51139561T>ACA495780280SALL1c.2661A>T (p.Ser887=)
c.2370A>T (p.Ser790=)
c.77-2009A>T (n.77-2009A>T)
16g.51139561T>CCA495780281SALL1c.2661A>G (p.Ser887=)
c.2370A>G (p.Ser790=)
c.77-2009A>G (n.77-2009A>G)
16g.51139561T>GCA495780282SALL1c.2661A>C (p.Ser887=)
c.2370A>C (p.Ser790=)
c.77-2009A>C (n.77-2009A>C)
16g.51139562G>ACA395884163SALL1c.2660C>T (p.Ser887Leu)
c.2369C>T (p.Ser790Leu)
c.77-2010C>T (n.77-2010C>T)
16g.51139562G>CCA395884164SALL1c.2660C>G (p.Ser887Ter)
c.2369C>G (p.Ser790Ter)
c.77-2010C>G (n.77-2010C>G)
16g.51139562G>TCA395884165SALL1c.2660C>A (p.Ser887Ter)
c.2369C>A (p.Ser790Ter)
c.77-2010C>A (n.77-2010C>A)
16g.51139563A>CCA395884166SALL1c.2659T>G (p.Ser887Ala)
c.2368T>G (p.Ser790Ala)
c.77-2011T>G (n.77-2011T>G)
16g.51139563A>GCA395884167SALL1c.2659T>C (p.Ser887Pro)
c.2368T>C (p.Ser790Pro)
c.77-2011T>C (n.77-2011T>C)
16g.51139563A>TCA395884168SALL1c.2659T>A (p.Ser887Thr)
c.2368T>A (p.Ser790Thr)
c.77-2011T>A (n.77-2011T>A)
16g.51139564C>ACA395884170SALL1c.2658G>T (p.Lys886Asn)
c.2367G>T (p.Lys789Asn)
c.77-2012G>T (n.77-2012G>T)
16g.51139564C>GCA395884169SALL1c.2658G>C (p.Lys886Asn)
c.2367G>C (p.Lys789Asn)
c.77-2012G>C (n.77-2012G>C)
16g.51139564C>TCA495780283SALL1c.2658G>A (p.Lys886=)
c.2367G>A (p.Lys789=)
c.77-2012G>A (n.77-2012G>A)
16g.51139565T>ACA395884171SALL1c.2657A>T (p.Lys886Met)
c.2366A>T (p.Lys789Met)
c.77-2013A>T (n.77-2013A>T)
16g.51139565T>CCA395884172SALL1c.2657A>G (p.Lys886Arg)
c.2366A>G (p.Lys789Arg)
c.77-2013A>G (n.77-2013A>G)
16g.51139565T>GCA395884173SALL1c.2657A>C (p.Lys886Thr)
c.2366A>C (p.Lys789Thr)
c.77-2013A>C (n.77-2013A>C)
16g.51139566T>ACA395884174SALL1c.2656A>T (p.Lys886Ter)
c.2365A>T (p.Lys789Ter)
c.77-2014A>T (n.77-2014A>T)
16g.51139566T>CCA395884175SALL1c.2656A>G (p.Lys886Glu)
c.2365A>G (p.Lys789Glu)
c.77-2014A>G (n.77-2014A>G)
16g.51139566T>GCA395884176SALL1c.2656A>C (p.Lys886Gln)
c.2365A>C (p.Lys789Gln)
c.77-2014A>C (n.77-2014A>C)
16g.51139567C>ACA495780284SALL1c.2655G>T (p.Leu885=)
c.2364G>T (p.Leu788=)
c.77-2015G>T (n.77-2015G>T)
16g.51139567C>GCA495780285SALL1c.2655G>C (p.Leu885=)
c.2364G>C (p.Leu788=)
c.77-2015G>C (n.77-2015G>C)
16g.51139567C>TCA495780286SALL1c.2655G>A (p.Leu885=)
c.2364G>A (p.Leu788=)
c.77-2015G>A (n.77-2015G>A)
16g.51139568A>CCA395884177SALL1c.2654T>G (p.Leu885Arg)
c.2363T>G (p.Leu788Arg)
c.77-2016T>G (n.77-2016T>G)
16g.51139568A>GCA395884179SALL1c.2654T>C (p.Leu885Pro)
c.2363T>C (p.Leu788Pro)
c.77-2016T>C (n.77-2016T>C)
16g.51139568A>TCA395884178SALL1c.2654T>A (p.Leu885Gln)
c.2363T>A (p.Leu788Gln)
c.77-2016T>A (n.77-2016T>A)
16g.51139569G>ACA495780287SALL1c.2653C>T (p.Leu885=)
c.2362C>T (p.Leu788=)
c.77-2017C>T (n.77-2017C>T)
16g.51139569G>CCA395884180SALL1c.2653C>G (p.Leu885Val)
c.2362C>G (p.Leu788Val)
c.77-2017C>G (n.77-2017C>G)
16g.51139569G>TCA395884181SALL1c.2653C>A (p.Leu885Met)
c.2362C>A (p.Leu788Met)
c.77-2017C>A (n.77-2017C>A)
16g.51139570G>ACA495780288SALL1c.2652C>T (p.Ser884=)
c.2361C>T (p.Ser787=)
c.77-2018C>T (n.77-2018C>T)
16g.51139570G>CCA395884182SALL1c.2652C>G (p.Ser884Arg)
c.2361C>G (p.Ser787Arg)
c.77-2018C>G (n.77-2018C>G)
16g.51139570G>TCA395884183SALL1c.2652C>A (p.Ser884Arg)
c.2361C>A (p.Ser787Arg)
c.77-2018C>A (n.77-2018C>A)
16g.51139571C>ACA395884184SALL1c.2651G>T (p.Ser884Ile)
c.2360G>T (p.Ser787Ile)
c.77-2019G>T (n.77-2019G>T)
16g.51139571C>GCA395884185SALL1c.2651G>C (p.Ser884Thr)
c.2360G>C (p.Ser787Thr)
c.77-2019G>C (n.77-2019G>C)
16g.51139571C>TCA395884186SALL1c.2651G>A (p.Ser884Asn)
c.2360G>A (p.Ser787Asn)
c.77-2019G>A (n.77-2019G>A)
gnomAD v4
16g.51139572T>ACA395884187SALL1c.2650A>T (p.Ser884Cys)
c.2359A>T (p.Ser787Cys)
c.77-2020A>T (n.77-2020A>T)
16g.51139572T>CCA395884188SALL1c.2650A>G (p.Ser884Gly)
c.2359A>G (p.Ser787Gly)
c.77-2020A>G (n.77-2020A>G)
16g.51139572T>GCA395884189SALL1c.2650A>C (p.Ser884Arg)
c.2359A>C (p.Ser787Arg)
c.77-2020A>C (n.77-2020A>C)
16g.51139573G>ACA495780291SALL1c.2649C>T (p.Ala883=)
c.2358C>T (p.Ala786=)
c.77-2021C>T (n.77-2021C>T)
16g.51139573G>CCA495780289SALL1c.2649C>G (p.Ala883=)
c.2358C>G (p.Ala786=)
c.77-2021C>G (n.77-2021C>G)
16g.51139573G>TCA495780290SALL1c.2649C>A (p.Ala883=)
c.2358C>A (p.Ala786=)
c.77-2021C>A (n.77-2021C>A)
gnomAD v4
16g.51139574G>ACA395884190SALL1c.2648C>T (p.Ala883Val)
c.2357C>T (p.Ala786Val)
c.77-2022C>T (n.77-2022C>T)
16g.51139574G>CCA395884192SALL1c.2648C>G (p.Ala883Gly)
c.2357C>G (p.Ala786Gly)
c.77-2022C>G (n.77-2022C>G)
16g.51139574G>TCA395884191SALL1c.2648C>A (p.Ala883Asp)
c.2357C>A (p.Ala786Asp)
c.77-2022C>A (n.77-2022C>A)
16g.51139575C>ACA395884193SALL1c.2647G>T (p.Ala883Ser)
c.2356G>T (p.Ala786Ser)
c.77-2023G>T (n.77-2023G>T)
16g.51139575C>GCA395884195SALL1c.2647G>C (p.Ala883Pro)
c.2356G>C (p.Ala786Pro)
c.77-2023G>C (n.77-2023G>C)
16g.51139575C>TCA395884194SALL1c.2647G>A (p.Ala883Thr)
c.2356G>A (p.Ala786Thr)
c.77-2023G>A (n.77-2023G>A)
16g.51139576C>ACA395884196SALL1c.2646G>T (p.Gln882His)
c.2355G>T (p.Gln785His)
c.77-2024G>T (n.77-2024G>T)
16g.51139576C>GCA395884197SALL1c.2646G>C (p.Gln882His)
c.2355G>C (p.Gln785His)
c.77-2024G>C (n.77-2024G>C)
gnomAD v4
16g.51139576C>TCA495780292SALL1c.2646G>A (p.Gln882=)
c.2355G>A (p.Gln785=)
c.77-2024G>A (n.77-2024G>A)
16g.51139577T>ACA8053061SALL1c.2645A>T (p.Gln882Leu)
c.2354A>T (p.Gln785Leu)
c.77-2025A>T (n.77-2025A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139577T>CCA395884199SALL1c.2645A>G (p.Gln882Arg)
c.2354A>G (p.Gln785Arg)
c.77-2025A>G (n.77-2025A>G)
16g.51139577T>GCA395884198SALL1c.2645A>C (p.Gln882Pro)
c.2354A>C (p.Gln785Pro)
c.77-2025A>C (n.77-2025A>C)
16g.51139577T=CA2222018280SALL1c.2645A= (p.Gln882=)
c.2354A= (p.Gln785=)
c.77-2025A= (n.77-2025A=)
16g.51139578G>ACA395884200SALL1c.2644C>T (p.Gln882Ter)
c.2353C>T (p.Gln785Ter)
c.77-2026C>T (n.77-2026C>T)
16g.51139578G>CCA395884202SALL1c.2644C>G (p.Gln882Glu)
c.2353C>G (p.Gln785Glu)
c.77-2026C>G (n.77-2026C>G)
16g.51139578G>TCA395884201SALL1c.2644C>A (p.Gln882Lys)
c.2353C>A (p.Gln785Lys)
c.77-2026C>A (n.77-2026C>A)
16g.51139579T>ACA495780295SALL1c.2643A>T (p.Leu881=)
c.2352A>T (p.Leu784=)
c.77-2027A>T (n.77-2027A>T)
16g.51139579T>CCA495780293SALL1c.2643A>G (p.Leu881=)
c.2352A>G (p.Leu784=)
c.77-2027A>G (n.77-2027A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139579T>GCA495780294SALL1c.2643A>C (p.Leu881=)
c.2352A>C (p.Leu784=)
c.77-2027A>C (n.77-2027A>C)
ClinVar
16g.51139579T=CA2222018283SALL1c.2643A= (p.Leu881=)
c.2352A= (p.Leu784=)
c.77-2027A= (n.77-2027A=)
16g.51139580A=CA2222018288SALL1c.2642T= (p.Leu881=)
c.2351T= (p.Leu784=)
c.77-2028T= (n.77-2028T=)
16g.51139580A>CCA395884203SALL1c.2642T>G (p.Leu881Arg)
c.2351T>G (p.Leu784Arg)
c.77-2028T>G (n.77-2028T>G)
16g.51139580A>GCA395884205SALL1c.2642T>C (p.Leu881Pro)
c.2351T>C (p.Leu784Pro)
c.77-2028T>C (n.77-2028T>C)
dbSNP
16g.51139580A>TCA395884204SALL1c.2642T>A (p.Leu881Gln)
c.2351T>A (p.Leu784Gln)
c.77-2028T>A (n.77-2028T>A)
16g.51139581G>ACA495780296SALL1c.2641C>T (p.Leu881=)
c.2350C>T (p.Leu784=)
c.77-2029C>T (n.77-2029C>T)
16g.51139581G>CCA395884207SALL1c.2641C>G (p.Leu881Val)
c.2350C>G (p.Leu784Val)
c.77-2029C>G (n.77-2029C>G)
16g.51139581G>TCA395884208SALL1c.2641C>A (p.Leu881Ile)
c.2350C>A (p.Leu784Ile)
c.77-2029C>A (n.77-2029C>A)
16g.51139582C>ACA395884210SALL1c.2640G>T (p.Gln880His)
c.2349G>T (p.Gln783His)
c.77-2030G>T (n.77-2030G>T)
16g.51139582C=CA2222018292SALL1c.2640G= (p.Gln880=)
c.2349G= (p.Gln783=)
c.77-2030G= (n.77-2030G=)
16g.51139582C>GCA395884212SALL1c.2640G>C (p.Gln880His)
c.2349G>C (p.Gln783His)
c.77-2030G>C (n.77-2030G>C)
16g.51139582C>TCA495780297SALL1c.2640G>A (p.Gln880=)
c.2349G>A (p.Gln783=)
c.77-2030G>A (n.77-2030G>A)
dbSNP gnomAD v4
16g.51139583T>ACA395884213SALL1c.2639A>T (p.Gln880Leu)
c.2348A>T (p.Gln783Leu)
c.77-2031A>T (n.77-2031A>T)
16g.51139583T>CCA395884214SALL1c.2639A>G (p.Gln880Arg)
c.2348A>G (p.Gln783Arg)
c.77-2031A>G (n.77-2031A>G)
16g.51139583T>GCA395884215SALL1c.2639A>C (p.Gln880Pro)
c.2348A>C (p.Gln783Pro)
c.77-2031A>C (n.77-2031A>C)
16g.51139584G>ACA395884218SALL1c.2638C>T (p.Gln880Ter)
c.2347C>T (p.Gln783Ter)
c.77-2032C>T (n.77-2032C>T)
16g.51139584G>CCA395884216SALL1c.2638C>G (p.Gln880Glu)
c.2347C>G (p.Gln783Glu)
c.77-2032C>G (n.77-2032C>G)
ClinVar
16g.51139584G>TCA395884217SALL1c.2638C>A (p.Gln880Lys)
c.2347C>A (p.Gln783Lys)
c.77-2032C>A (n.77-2032C>A)
16g.51139585C>ACA395884219SALL1c.2637G>T (p.Glu879Asp)
c.2346G>T (p.Glu782Asp)
c.77-2033G>T (n.77-2033G>T)
16g.51139585C=CA2222018295SALL1c.2637G= (p.Glu879=)
c.2346G= (p.Glu782=)
c.77-2033G= (n.77-2033G=)
16g.51139585C>GCA395884220SALL1c.2637G>C (p.Glu879Asp)
c.2346G>C (p.Glu782Asp)
c.77-2033G>C (n.77-2033G>C)
16g.51139585C>TCA495780298SALL1c.2637G>A (p.Glu879=)
c.2346G>A (p.Glu782=)
c.77-2033G>A (n.77-2033G>A)
dbSNP gnomAD v4 COSMIC
16g.51139586T>ACA395884223SALL1c.2636A>T (p.Glu879Val)
c.2345A>T (p.Glu782Val)
c.77-2034A>T (n.77-2034A>T)
16g.51139586T>CCA395884224SALL1c.2636A>G (p.Glu879Gly)
c.2345A>G (p.Glu782Gly)
c.77-2034A>G (n.77-2034A>G)
16g.51139586T>GCA395884225SALL1c.2636A>C (p.Glu879Ala)
c.2345A>C (p.Glu782Ala)
c.77-2034A>C (n.77-2034A>C)
16g.51139587C>ACA395884231SALL1c.2635G>T (p.Glu879Ter)
c.2344G>T (p.Glu782Ter)
c.77-2035G>T (n.77-2035G>T)
16g.51139587C>GCA395884227SALL1c.2635G>C (p.Glu879Gln)
c.2344G>C (p.Glu782Gln)
c.77-2035G>C (n.77-2035G>C)
16g.51139587C>TCA395884229SALL1c.2635G>A (p.Glu879Lys)
c.2344G>A (p.Glu782Lys)
c.77-2035G>A (n.77-2035G>A)
16g.51139588T>ACA495780299SALL1c.2634A>T (p.Ala878=)
c.2343A>T (p.Ala781=)
c.77-2036A>T (n.77-2036A>T)
16g.51139588T>CCA495780300SALL1c.2634A>G (p.Ala878=)
c.2343A>G (p.Ala781=)
c.77-2036A>G (n.77-2036A>G)
dbSNP
16g.51139588T>GCA495780301SALL1c.2634A>C (p.Ala878=)
c.2343A>C (p.Ala781=)
c.77-2036A>C (n.77-2036A>C)
16g.51139588T=CA2222018300SALL1c.2634A= (p.Ala878=)
c.2343A= (p.Ala781=)
c.77-2036A= (n.77-2036A=)
16g.51139589G>ACA395884233SALL1c.2633C>T (p.Ala878Val)
c.2342C>T (p.Ala781Val)
c.77-2037C>T (n.77-2037C>T)
dbSNP gnomAD v4
16g.51139589G>CCA395884235SALL1c.2633C>G (p.Ala878Gly)
c.2342C>G (p.Ala781Gly)
c.77-2037C>G (n.77-2037C>G)
16g.51139589G=CA2222018306SALL1c.2633C= (p.Ala878=)
c.2342C= (p.Ala781=)
c.77-2037C= (n.77-2037C=)
16g.51139589G>TCA8053062SALL1c.2633C>A (p.Ala878Glu)
c.2342C>A (p.Ala781Glu)
c.77-2037C>A (n.77-2037C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139590C>ACA395884237SALL1c.2632G>T (p.Ala878Ser)
c.2341G>T (p.Ala781Ser)
c.77-2038G>T (n.77-2038G>T)
16g.51139590C>GCA395884239SALL1c.2632G>C (p.Ala878Pro)
c.2341G>C (p.Ala781Pro)
c.77-2038G>C (n.77-2038G>C)
16g.51139590C>TCA395884240SALL1c.2632G>A (p.Ala878Thr)
c.2341G>A (p.Ala781Thr)
c.77-2038G>A (n.77-2038G>A)
gnomAD v4
16g.51139591C>ACA495780302SALL1c.2631G>T (p.Leu877=)
c.2340G>T (p.Leu780=)
c.77-2039G>T (n.77-2039G>T)
16g.51139591C=CA2222018310SALL1c.2631G= (p.Leu877=)
c.2340G= (p.Leu780=)
c.77-2039G= (n.77-2039G=)
16g.51139591C>GCA495780303SALL1c.2631G>C (p.Leu877=)
c.2340G>C (p.Leu780=)
c.77-2039G>C (n.77-2039G>C)
16g.51139591C>TCA8053063SALL1c.2631G>A (p.Leu877=)
c.2340G>A (p.Leu780=)
c.77-2039G>A (n.77-2039G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139592A=CA2222018315SALL1c.2630T= (p.Leu877=)
c.2339T= (p.Leu780=)
c.77-2040T= (n.77-2040T=)
16g.51139592A>CCA395884242SALL1c.2630T>G (p.Leu877Arg)
c.2339T>G (p.Leu780Arg)
c.77-2040T>G (n.77-2040T>G)
16g.51139592A>GCA395884243SALL1c.2630T>C (p.Leu877Pro)
c.2339T>C (p.Leu780Pro)
c.77-2040T>C (n.77-2040T>C)
dbSNP gnomAD v3 gnomAD v4
16g.51139592A>TCA395884244SALL1c.2630T>A (p.Leu877Gln)
c.2339T>A (p.Leu780Gln)
c.77-2040T>A (n.77-2040T>A)
16g.51139593G>ACA8053064SALL1c.2629C>T (p.Leu877=)
c.2338C>T (p.Leu780=)
c.77-2041C>T (n.77-2041C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139593G>CCA395884247SALL1c.2629C>G (p.Leu877Val)
c.2338C>G (p.Leu780Val)
c.77-2041C>G (n.77-2041C>G)
16g.51139593G=CA2222018318SALL1c.2629C= (p.Leu877=)
c.2338C= (p.Leu780=)
c.77-2041C= (n.77-2041C=)
16g.51139593G>TCA395884249SALL1c.2629C>A (p.Leu877Met)
c.2338C>A (p.Leu780Met)
c.77-2041C>A (n.77-2041C>A)
16g.51139594G>ACA495780306SALL1c.2628C>T (p.Gly876=)
c.2337C>T (p.Gly779=)
c.77-2042C>T (n.77-2042C>T)
16g.51139594G>CCA495780304SALL1c.2628C>G (p.Gly876=)
c.2337C>G (p.Gly779=)
c.77-2042C>G (n.77-2042C>G)
16g.51139594G>TCA495780305SALL1c.2628C>A (p.Gly876=)
c.2337C>A (p.Gly779=)
c.77-2042C>A (n.77-2042C>A)
16g.51139595C>ACA395884250SALL1c.2627G>T (p.Gly876Val)
c.2336G>T (p.Gly779Val)
c.77-2043G>T (n.77-2043G>T)
16g.51139595C=CA2222018322SALL1c.2627G= (p.Gly876=)
c.2336G= (p.Gly779=)
c.77-2043G= (n.77-2043G=)
16g.51139595C>GCA395884253SALL1c.2627G>C (p.Gly876Ala)
c.2336G>C (p.Gly779Ala)
c.77-2043G>C (n.77-2043G>C)
16g.51139595C>TCA395884251SALL1c.2627G>A (p.Gly876Asp)
c.2336G>A (p.Gly779Asp)
c.77-2043G>A (n.77-2043G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139596C>ACA395884254SALL1c.2626G>T (p.Gly876Cys)
c.2335G>T (p.Gly779Cys)
c.77-2044G>T (n.77-2044G>T)
16g.51139596C>GCA395884256SALL1c.2626G>C (p.Gly876Arg)
c.2335G>C (p.Gly779Arg)
c.77-2044G>C (n.77-2044G>C)
16g.51139596C>TCA395884258SALL1c.2626G>A (p.Gly876Ser)
c.2335G>A (p.Gly779Ser)
c.77-2044G>A (n.77-2044G>A)
16g.51139597A>CCA495780307SALL1c.2625T>G (p.Ala875=)
c.2334T>G (p.Ala778=)
c.77-2045T>G (n.77-2045T>G)
16g.51139597A>GCA495780308SALL1c.2625T>C (p.Ala875=)
c.2334T>C (p.Ala778=)
c.77-2045T>C (n.77-2045T>C)
16g.51139597A>TCA495780309SALL1c.2625T>A (p.Ala875=)
c.2334T>A (p.Ala778=)
c.77-2045T>A (n.77-2045T>A)
16g.51139598G>ACA395884259SALL1c.2624C>T (p.Ala875Val)
c.2333C>T (p.Ala778Val)
c.77-2046C>T (n.77-2046C>T)
16g.51139598G>CCA395884260SALL1c.2624C>G (p.Ala875Gly)
c.2333C>G (p.Ala778Gly)
c.77-2046C>G (n.77-2046C>G)
16g.51139598G>TCA395884262SALL1c.2624C>A (p.Ala875Asp)
c.2333C>A (p.Ala778Asp)
c.77-2046C>A (n.77-2046C>A)
16g.51139599C>ACA395884267SALL1c.2623G>T (p.Ala875Ser)
c.2332G>T (p.Ala778Ser)
c.77-2047G>T (n.77-2047G>T)
16g.51139599C>GCA395884264SALL1c.2623G>C (p.Ala875Pro)
c.2332G>C (p.Ala778Pro)
c.77-2047G>C (n.77-2047G>C)
16g.51139599C>TCA395884266SALL1c.2623G>A (p.Ala875Thr)
c.2332G>A (p.Ala778Thr)
c.77-2047G>A (n.77-2047G>A)
16g.51139600A>CCA395884268SALL1c.2622T>G (p.Asn874Lys)
c.2331T>G (p.Asn777Lys)
c.77-2048T>G (n.77-2048T>G)
16g.51139600A>GCA495780310SALL1c.2622T>C (p.Asn874=)
c.2331T>C (p.Asn777=)
c.77-2048T>C (n.77-2048T>C)
16g.51139600A>TCA395884270SALL1c.2622T>A (p.Asn874Lys)
c.2331T>A (p.Asn777Lys)
c.77-2048T>A (n.77-2048T>A)
16g.51139601T>ACA395884271SALL1c.2621A>T (p.Asn874Ile)
c.2330A>T (p.Asn777Ile)
c.77-2049A>T (n.77-2049A>T)
gnomAD v4
16g.51139601T>CCA281301195SALL1c.2621A>G (p.Asn874Ser)
c.2330A>G (p.Asn777Ser)
c.77-2049A>G (n.77-2049A>G)
dbSNP gnomAD v3 gnomAD v4
16g.51139601T>GCA395884273SALL1c.2621A>C (p.Asn874Thr)
c.2330A>C (p.Asn777Thr)
c.77-2049A>C (n.77-2049A>C)
ClinVar dbSNP
16g.51139601T=CA2222018327SALL1c.2621A= (p.Asn874=)
c.2330A= (p.Asn777=)
c.77-2049A= (n.77-2049A=)
16g.51139602T>ACA395884275SALL1c.2620A>T (p.Asn874Tyr)
c.2329A>T (p.Asn777Tyr)
c.77-2050A>T (n.77-2050A>T)
16g.51139602T>CCA395884278SALL1c.2620A>G (p.Asn874Asp)
c.2329A>G (p.Asn777Asp)
c.77-2050A>G (n.77-2050A>G)
gnomAD v4
16g.51139602T>GCA395884277SALL1c.2620A>C (p.Asn874His)
c.2329A>C (p.Asn777His)
c.77-2050A>C (n.77-2050A>C)
16g.51139603G>ACA495780311SALL1c.2619C>T (p.Ile873=)
c.2328C>T (p.Ile776=)
c.77-2051C>T (n.77-2051C>T)
16g.51139603G>CCA8053065SALL1c.2619C>G (p.Ile873Met)
c.2328C>G (p.Ile776Met)
c.77-2051C>G (n.77-2051C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139603G=CA2222018330SALL1c.2619C= (p.Ile873=)
c.2328C= (p.Ile776=)
c.77-2051C= (n.77-2051C=)
16g.51139603G>TCA495780312SALL1c.2619C>A (p.Ile873=)
c.2328C>A (p.Ile776=)
c.77-2051C>A (n.77-2051C>A)
16g.51139603_51139606delinsGATCCA2222018328SALL1c.2616_2619delinsGATC (p.Met872=)
c.2325_2328delinsGATC (p.Met775=)
c.77-2054_77-2051delinsGATC (n.77-2054_77-2051delinsGATC)
16g.51139604A>CCA395884281SALL1c.2618T>G (p.Ile873Ser)
c.2327T>G (p.Ile776Ser)
c.77-2052T>G (n.77-2052T>G)
16g.51139604A>GCA395884283SALL1c.2618T>C (p.Ile873Thr)
c.2327T>C (p.Ile776Thr)
c.77-2052T>C (n.77-2052T>C)
16g.51139604A>TCA395884284SALL1c.2618T>A (p.Ile873Asn)
c.2327T>A (p.Ile776Asn)
c.77-2052T>A (n.77-2052T>A)
gnomAD v4
16g.51139607_51139609delCA8053066SALL1c.2616_2618del (p.Met872del)
c.2325_2327del (p.Met775del)
c.77-2054_77-2052del (n.77-2054_77-2052del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139605T>ACA395884286SALL1c.2617A>T (p.Ile873Phe)
c.2326A>T (p.Ile776Phe)
c.77-2053A>T (n.77-2053A>T)
16g.51139605T>CCA395884288SALL1c.2617A>G (p.Ile873Val)
c.2326A>G (p.Ile776Val)
c.77-2053A>G (n.77-2053A>G)
16g.51139605T>GCA395884289SALL1c.2617A>C (p.Ile873Leu)
c.2326A>C (p.Ile776Leu)
c.77-2053A>C (n.77-2053A>C)
16g.51139606C>ACA395884291SALL1c.2616G>T (p.Met872Ile)
c.2325G>T (p.Met775Ile)
c.77-2054G>T (n.77-2054G>T)
16g.51139606C=CA2222018335SALL1c.2616G= (p.Met872=)
c.2325G= (p.Met775=)
c.77-2054G= (n.77-2054G=)
16g.51139606C>GCA395884292SALL1c.2616G>C (p.Met872Ile)
c.2325G>C (p.Met775Ile)
c.77-2054G>C (n.77-2054G>C)
16g.51139606C>TCA395884294SALL1c.2616G>A (p.Met872Ile)
c.2325G>A (p.Met775Ile)
c.77-2054G>A (n.77-2054G>A)
dbSNP gnomAD v4
16g.51139607A>CCA395884299SALL1c.2615T>G (p.Met872Arg)
c.2324T>G (p.Met775Arg)
c.77-2055T>G (n.77-2055T>G)
16g.51139607A>GCA395884296SALL1c.2615T>C (p.Met872Thr)
c.2324T>C (p.Met775Thr)
c.77-2055T>C (n.77-2055T>C)
gnomAD v4 COSMIC
16g.51139607A>TCA395884297SALL1c.2615T>A (p.Met872Lys)
c.2324T>A (p.Met775Lys)
c.77-2055T>A (n.77-2055T>A)
16g.51139608T>ACA395884301SALL1c.2614A>T (p.Met872Leu)
c.2323A>T (p.Met775Leu)
c.77-2056A>T (n.77-2056A>T)
16g.51139608T>CCA395884302SALL1c.2614A>G (p.Met872Val)
c.2323A>G (p.Met775Val)
c.77-2056A>G (n.77-2056A>G)
dbSNP gnomAD v4
16g.51139608T>GCA395884303SALL1c.2614A>C (p.Met872Leu)
c.2323A>C (p.Met775Leu)
c.77-2056A>C (n.77-2056A>C)
16g.51139608T=CA2222018340SALL1c.2614A= (p.Met872=)
c.2323A= (p.Met775=)
c.77-2056A= (n.77-2056A=)
16g.51139609C>ACA395884305SALL1c.2613G>T (p.Lys871Asn)
c.2322G>T (p.Lys774Asn)
c.77-2057G>T (n.77-2057G>T)
16g.51139609C>GCA395884307SALL1c.2613G>C (p.Lys871Asn)
c.2322G>C (p.Lys774Asn)
c.77-2057G>C (n.77-2057G>C)
16g.51139609C>TCA495780313SALL1c.2613G>A (p.Lys871=)
c.2322G>A (p.Lys774=)
c.77-2057G>A (n.77-2057G>A)
16g.51139610T>ACA395884312SALL1c.2612A>T (p.Lys871Met)
c.2321A>T (p.Lys774Met)
c.77-2058A>T (n.77-2058A>T)
16g.51139610T>CCA395884310SALL1c.2612A>G (p.Lys871Arg)
c.2321A>G (p.Lys774Arg)
c.77-2058A>G (n.77-2058A>G)
16g.51139610T>GCA395884309SALL1c.2612A>C (p.Lys871Thr)
c.2321A>C (p.Lys774Thr)
c.77-2058A>C (n.77-2058A>C)
16g.51139611T>ACA395884314SALL1c.2611A>T (p.Lys871Ter)
c.2320A>T (p.Lys774Ter)
c.77-2059A>T (n.77-2059A>T)
16g.51139611T>CCA395884315SALL1c.2611A>G (p.Lys871Glu)
c.2320A>G (p.Lys774Glu)
c.77-2059A>G (n.77-2059A>G)
16g.51139611T>GCA395884317SALL1c.2611A>C (p.Lys871Gln)
c.2320A>C (p.Lys774Gln)
c.77-2059A>C (n.77-2059A>C)
gnomAD v4
16g.51139612C>ACA395884319SALL1c.2610G>T (p.Met870Ile)
c.2319G>T (p.Met773Ile)
c.77-2060G>T (n.77-2060G>T)
16g.51139612C>GCA395884321SALL1c.2610G>C (p.Met870Ile)
c.2319G>C (p.Met773Ile)
c.77-2060G>C (n.77-2060G>C)
16g.51139612C>TCA395884322SALL1c.2610G>A (p.Met870Ile)
c.2319G>A (p.Met773Ile)
c.77-2060G>A (n.77-2060G>A)
16g.51139613A>CCA395884327SALL1c.2609T>G (p.Met870Arg)
c.2318T>G (p.Met773Arg)
c.77-2061T>G (n.77-2061T>G)
16g.51139613A>GCA395884324SALL1c.2609T>C (p.Met870Thr)
c.2318T>C (p.Met773Thr)
c.77-2061T>C (n.77-2061T>C)
16g.51139613A>TCA395884326SALL1c.2609T>A (p.Met870Lys)
c.2318T>A (p.Met773Lys)
c.77-2061T>A (n.77-2061T>A)
16g.51139614T>ACA395884329SALL1c.2608A>T (p.Met870Leu)
c.2317A>T (p.Met773Leu)
c.77-2062A>T (n.77-2062A>T)
16g.51139614T>CCA395884330SALL1c.2608A>G (p.Met870Val)
c.2317A>G (p.Met773Val)
c.77-2062A>G (n.77-2062A>G)
16g.51139614T>GCA395884331SALL1c.2608A>C (p.Met870Leu)
c.2317A>C (p.Met773Leu)
c.77-2062A>C (n.77-2062A>C)
16g.51139615C>ACA8053067SALL1c.2607G>T (p.Gln869His)
c.2316G>T (p.Gln772His)
c.77-2063G>T (n.77-2063G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139615C=CA2222018346SALL1c.2607G= (p.Gln869=)
c.2316G= (p.Gln772=)
c.77-2063G= (n.77-2063G=)
16g.51139615C>GCA395884332SALL1c.2607G>C (p.Gln869His)
c.2316G>C (p.Gln772His)
c.77-2063G>C (n.77-2063G>C)
gnomAD v4
16g.51139615C>TCA495780314SALL1c.2607G>A (p.Gln869=)
c.2316G>A (p.Gln772=)
c.77-2063G>A (n.77-2063G>A)
gnomAD v4
16g.51139616T>ACA395884334SALL1c.2606A>T (p.Gln869Leu)
c.2315A>T (p.Gln772Leu)
c.77-2064A>T (n.77-2064A>T)
16g.51139616T>CCA395884336SALL1c.2606A>G (p.Gln869Arg)
c.2315A>G (p.Gln772Arg)
c.77-2064A>G (n.77-2064A>G)
dbSNP gnomAD v2 gnomAD v4
16g.51139616T>GCA395884337SALL1c.2606A>C (p.Gln869Pro)
c.2315A>C (p.Gln772Pro)
c.77-2064A>C (n.77-2064A>C)
16g.51139616T=CA2222018349SALL1c.2606A= (p.Gln869=)
c.2315A= (p.Gln772=)
c.77-2064A= (n.77-2064A=)
16g.51139617G>ACA395884339SALL1c.2605C>T (p.Gln869Ter)
c.2314C>T (p.Gln772Ter)
c.77-2065C>T (n.77-2065C>T)
16g.51139617G>CCA395884340SALL1c.2605C>G (p.Gln869Glu)
c.2314C>G (p.Gln772Glu)
c.77-2065C>G (n.77-2065C>G)
ClinVar
16g.51139617G>TCA395884342SALL1c.2605C>A (p.Gln869Lys)
c.2314C>A (p.Gln772Lys)
c.77-2065C>A (n.77-2065C>A)
16g.51139618A>CCA395884343SALL1c.2604T>G (p.Asn868Lys)
c.2313T>G (p.Asn771Lys)
c.77-2066T>G (n.77-2066T>G)
16g.51139618A>GCA495780315SALL1c.2604T>C (p.Asn868=)
c.2313T>C (p.Asn771=)
c.77-2066T>C (n.77-2066T>C)
16g.51139618A>TCA395884345SALL1c.2604T>A (p.Asn868Lys)
c.2313T>A (p.Asn771Lys)
c.77-2066T>A (n.77-2066T>A)
16g.51139619T>ACA395884347SALL1c.2603A>T (p.Asn868Ile)
c.2312A>T (p.Asn771Ile)
c.77-2067A>T (n.77-2067A>T)
16g.51139619T>CCA395884349SALL1c.2603A>G (p.Asn868Ser)
c.2312A>G (p.Asn771Ser)
c.77-2067A>G (n.77-2067A>G)
16g.51139619T>GCA395884348SALL1c.2603A>C (p.Asn868Thr)
c.2312A>C (p.Asn771Thr)
c.77-2067A>C (n.77-2067A>C)
16g.51139620T>ACA395884350SALL1c.2602A>T (p.Asn868Tyr)
c.2311A>T (p.Asn771Tyr)
c.77-2068A>T (n.77-2068A>T)
16g.51139620T>CCA395884352SALL1c.2602A>G (p.Asn868Asp)
c.2311A>G (p.Asn771Asp)
c.77-2068A>G (n.77-2068A>G)
dbSNP
16g.51139620T>GCA395884354SALL1c.2602A>C (p.Asn868His)
c.2311A>C (p.Asn771His)
c.77-2068A>C (n.77-2068A>C)
16g.51139620T=CA2222018351SALL1c.2602A= (p.Asn868=)
c.2311A= (p.Asn771=)
c.77-2068A= (n.77-2068A=)
16g.51139621T>ACA395884356SALL1c.2601A>T (p.Glu867Asp)
c.2310A>T (p.Glu770Asp)
c.77-2069A>T (n.77-2069A>T)
16g.51139621T>CCA495780316SALL1c.2601A>G (p.Glu867=)
c.2310A>G (p.Glu770=)
c.77-2069A>G (n.77-2069A>G)
16g.51139621T>GCA395884357SALL1c.2601A>C (p.Glu867Asp)
c.2310A>C (p.Glu770Asp)
c.77-2069A>C (n.77-2069A>C)
16g.51139622T>ACA395884359SALL1c.2600A>T (p.Glu867Val)
c.2309A>T (p.Glu770Val)
c.77-2070A>T (n.77-2070A>T)
16g.51139622T>CCA395884360SALL1c.2600A>G (p.Glu867Gly)
c.2309A>G (p.Glu770Gly)
c.77-2070A>G (n.77-2070A>G)
gnomAD v4
16g.51139622T>GCA395884362SALL1c.2600A>C (p.Glu867Ala)
c.2309A>C (p.Glu770Ala)
c.77-2070A>C (n.77-2070A>C)
16g.51139623C>ACA395884364SALL1c.2599G>T (p.Glu867Ter)
c.2308G>T (p.Glu770Ter)
c.77-2071G>T (n.77-2071G>T)
16g.51139623C>GCA395884365SALL1c.2599G>C (p.Glu867Gln)
c.2308G>C (p.Glu770Gln)
c.77-2071G>C (n.77-2071G>C)
16g.51139623C>TCA395884367SALL1c.2599G>A (p.Glu867Lys)
c.2308G>A (p.Glu770Lys)
c.77-2071G>A (n.77-2071G>A)
16g.51139624C>ACA395884368SALL1c.2598G>T (p.Leu866Phe)
c.2307G>T (p.Leu769Phe)
c.77-2072G>T (n.77-2072G>T)
16g.51139624C>GCA395884370SALL1c.2598G>C (p.Leu866Phe)
c.2307G>C (p.Leu769Phe)
c.77-2072G>C (n.77-2072G>C)
16g.51139624C>TCA495780317SALL1c.2598G>A (p.Leu866=)
c.2307G>A (p.Leu769=)
c.77-2072G>A (n.77-2072G>A)
COSMIC
16g.51139625A=CA2222018354SALL1c.2597T= (p.Leu866=)
c.2306T= (p.Leu769=)
c.77-2073T= (n.77-2073T=)
16g.51139625A>CCA395884375SALL1c.2597T>G (p.Leu866Trp)
c.2306T>G (p.Leu769Trp)
c.77-2073T>G (n.77-2073T>G)
16g.51139625A>GCA395884372SALL1c.2597T>C (p.Leu866Ser)
c.2306T>C (p.Leu769Ser)
c.77-2073T>C (n.77-2073T>C)
dbSNP gnomAD v3 gnomAD v4
16g.51139625A>TCA395884373SALL1c.2597T>A (p.Leu866Ter)
c.2306T>A (p.Leu769Ter)
c.77-2073T>A (n.77-2073T>A)
16g.51139626A>CCA395884377SALL1c.2596T>G (p.Leu866Val)
c.2305T>G (p.Leu769Val)
c.77-2074T>G (n.77-2074T>G)
16g.51139626A>GCA495780318SALL1c.2596T>C (p.Leu866=)
c.2305T>C (p.Leu769=)
c.77-2074T>C (n.77-2074T>C)
16g.51139626A>TCA395884379SALL1c.2596T>A (p.Leu866Met)
c.2305T>A (p.Leu769Met)
c.77-2074T>A (n.77-2074T>A)
16g.51139627A=CA2222018358SALL1c.2595T= (p.Ala865=)
c.2304T= (p.Ala768=)
c.77-2075T= (n.77-2075T=)
16g.51139627A>CCA495780319SALL1c.2595T>G (p.Ala865=)
c.2304T>G (p.Ala768=)
c.77-2075T>G (n.77-2075T>G)
16g.51139627A>GCA495780320SALL1c.2595T>C (p.Ala865=)
c.2304T>C (p.Ala768=)
c.77-2075T>C (n.77-2075T>C)
dbSNP gnomAD v2 gnomAD v4
16g.51139627A>TCA495780321SALL1c.2595T>A (p.Ala865=)
c.2304T>A (p.Ala768=)
c.77-2075T>A (n.77-2075T>A)
16g.51139628G>ACA395884380SALL1c.2594C>T (p.Ala865Val)
c.2303C>T (p.Ala768Val)
c.77-2076C>T (n.77-2076C>T)
16g.51139628G>CCA395884381SALL1c.2594C>G (p.Ala865Gly)
c.2303C>G (p.Ala768Gly)
c.77-2076C>G (n.77-2076C>G)
16g.51139628G>TCA395884383SALL1c.2594C>A (p.Ala865Asp)
c.2303C>A (p.Ala768Asp)
c.77-2076C>A (n.77-2076C>A)
16g.51139629C>ACA395884385SALL1c.2593G>T (p.Ala865Ser)
c.2302G>T (p.Ala768Ser)
c.77-2077G>T (n.77-2077G>T)
16g.51139629C=CA2222018363SALL1c.2593G= (p.Ala865=)
c.2302G= (p.Ala768=)
c.77-2077G= (n.77-2077G=)
16g.51139629C>GCA395884386SALL1c.2593G>C (p.Ala865Pro)
c.2302G>C (p.Ala768Pro)
c.77-2077G>C (n.77-2077G>C)
dbSNP gnomAD v2
16g.51139629C>TCA395884387SALL1c.2593G>A (p.Ala865Thr)
c.2302G>A (p.Ala768Thr)
c.77-2077G>A (n.77-2077G>A)
16g.51139630A=CA2222018369SALL1c.2592T= (p.Ala864=)
c.2301T= (p.Ala767=)
c.77-2078T= (n.77-2078T=)
16g.51139630A>CCA495780322SALL1c.2592T>G (p.Ala864=)
c.2301T>G (p.Ala767=)
c.77-2078T>G (n.77-2078T>G)
16g.51139630A>GCA495780323SALL1c.2592T>C (p.Ala864=)
c.2301T>C (p.Ala767=)
c.77-2078T>C (n.77-2078T>C)
dbSNP COSMIC
16g.51139630A>TCA495780324SALL1c.2592T>A (p.Ala864=)
c.2301T>A (p.Ala767=)
c.77-2078T>A (n.77-2078T>A)
16g.51139631G>ACA395884389SALL1c.2591C>T (p.Ala864Val)
c.2300C>T (p.Ala767Val)
c.77-2079C>T (n.77-2079C>T)
dbSNP gnomAD v2 gnomAD v4
16g.51139631G>CCA395884390SALL1c.2591C>G (p.Ala864Gly)
c.2300C>G (p.Ala767Gly)
c.77-2079C>G (n.77-2079C>G)
16g.51139631G=CA2222018370SALL1c.2591C= (p.Ala864=)
c.2300C= (p.Ala767=)
c.77-2079C= (n.77-2079C=)
16g.51139631G>TCA395884392SALL1c.2591C>A (p.Ala864Asp)
c.2300C>A (p.Ala767Asp)
c.77-2079C>A (n.77-2079C>A)
16g.51139632C>ACA8053069SALL1c.2590G>T (p.Ala864Ser)
c.2299G>T (p.Ala767Ser)
c.77-2080G>T (n.77-2080G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139632C=CA2222018373SALL1c.2590G= (p.Ala864=)
c.2299G= (p.Ala767=)
c.77-2080G= (n.77-2080G=)
16g.51139632C>GCA395884394SALL1c.2590G>C (p.Ala864Pro)
c.2299G>C (p.Ala767Pro)
c.77-2080G>C (n.77-2080G>C)
16g.51139632C>TCA8053068SALL1c.2590G>A (p.Ala864Thr)
c.2299G>A (p.Ala767Thr)
c.77-2080G>A (n.77-2080G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139633G>ACA8053070SALL1c.2589C>T (p.Ile863=)
c.2298C>T (p.Ile766=)
c.77-2081C>T (n.77-2081C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139633G>CCA395884398SALL1c.2589C>G (p.Ile863Met)
c.2298C>G (p.Ile766Met)
c.77-2081C>G (n.77-2081C>G)
16g.51139633G=CA2222018389SALL1c.2589C= (p.Ile863=)
c.2298C= (p.Ile766=)
c.77-2081C= (n.77-2081C=)
16g.51139633G>TCA495780325SALL1c.2589C>A (p.Ile863=)
c.2298C>A (p.Ile766=)
c.77-2081C>A (n.77-2081C>A)
16g.51139634A>CCA395884400SALL1c.2588T>G (p.Ile863Ser)
c.2297T>G (p.Ile766Ser)
c.77-2082T>G (n.77-2082T>G)
16g.51139634A>GCA395884402SALL1c.2588T>C (p.Ile863Thr)
c.2297T>C (p.Ile766Thr)
c.77-2082T>C (n.77-2082T>C)
16g.51139634A>TCA395884403SALL1c.2588T>A (p.Ile863Asn)
c.2297T>A (p.Ile766Asn)
c.77-2082T>A (n.77-2082T>A)
16g.51139635T>ACA395884405SALL1c.2587A>T (p.Ile863Phe)
c.2296A>T (p.Ile766Phe)
c.77-2083A>T (n.77-2083A>T)
16g.51139635T>CCA395884406SALL1c.2587A>G (p.Ile863Val)
c.2296A>G (p.Ile766Val)
c.77-2083A>G (n.77-2083A>G)
16g.51139635T>GCA395884407SALL1c.2587A>C (p.Ile863Leu)
c.2296A>C (p.Ile766Leu)
c.77-2083A>C (n.77-2083A>C)
16g.51139636G>ACA495780326SALL1c.2586C>T (p.Ser862=)
c.2295C>T (p.Ser765=)
c.77-2084C>T (n.77-2084C>T)
dbSNP
16g.51139636G>CCA395884409SALL1c.2586C>G (p.Ser862Arg)
c.2295C>G (p.Ser765Arg)
c.77-2084C>G (n.77-2084C>G)
16g.51139636G=CA2222018398SALL1c.2586C= (p.Ser862=)
c.2295C= (p.Ser765=)
c.77-2084C= (n.77-2084C=)
16g.51139636G>TCA395884411SALL1c.2586C>A (p.Ser862Arg)
c.2295C>A (p.Ser765Arg)
c.77-2084C>A (n.77-2084C>A)
16g.51139637C>ACA395884413SALL1c.2585G>T (p.Ser862Ile)
c.2294G>T (p.Ser765Ile)
c.77-2085G>T (n.77-2085G>T)
16g.51139637C=CA2222018402SALL1c.2585G= (p.Ser862=)
c.2294G= (p.Ser765=)
c.77-2085G= (n.77-2085G=)
16g.51139637C>GCA395884414SALL1c.2585G>C (p.Ser862Thr)
c.2294G>C (p.Ser765Thr)
c.77-2085G>C (n.77-2085G>C)
16g.51139637C>TCA395884416SALL1c.2585G>A (p.Ser862Asn)
c.2294G>A (p.Ser765Asn)
c.77-2085G>A (n.77-2085G>A)
dbSNP COSMIC
16g.51139638T>ACA8053071SALL1c.2584A>T (p.Ser862Cys)
c.2293A>T (p.Ser765Cys)
c.77-2086A>T (n.77-2086A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139638T>CCA395884419SALL1c.2584A>G (p.Ser862Gly)
c.2293A>G (p.Ser765Gly)
c.77-2086A>G (n.77-2086A>G)
16g.51139638T>GCA395884418SALL1c.2584A>C (p.Ser862Arg)
c.2293A>C (p.Ser765Arg)
c.77-2086A>C (n.77-2086A>C)
16g.51139638T=CA2222018404SALL1c.2584A= (p.Ser862=)
c.2293A= (p.Ser765=)
c.77-2086A= (n.77-2086A=)
16g.51139639C>ACA495780327SALL1c.2583G>T (p.Ser861=)
c.2292G>T (p.Ser764=)
c.77-2087G>T (n.77-2087G>T)
16g.51139639C=CA2222018406SALL1c.2583G= (p.Ser861=)
c.2292G= (p.Ser764=)
c.77-2087G= (n.77-2087G=)
16g.51139639C>GCA495780328SALL1c.2583G>C (p.Ser861=)
c.2292G>C (p.Ser764=)
c.77-2087G>C (n.77-2087G>C)
gnomAD v4
16g.51139639C>TCA8053072SALL1c.2583G>A (p.Ser861=)
c.2292G>A (p.Ser764=)
c.77-2087G>A (n.77-2087G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139640G>ACA8053073SALL1c.2582C>T (p.Ser861Leu)
c.2291C>T (p.Ser764Leu)
c.77-2088C>T (n.77-2088C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139640G>CCA8053074SALL1c.2582C>G (p.Ser861Trp)
c.2291C>G (p.Ser764Trp)
c.77-2088C>G (n.77-2088C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139640G=CA2222018408SALL1c.2582C= (p.Ser861=)
c.2291C= (p.Ser764=)
c.77-2088C= (n.77-2088C=)
16g.51139640G>TCA395884422SALL1c.2582C>A (p.Ser861Ter)
c.2291C>A (p.Ser764Ter)
c.77-2088C>A (n.77-2088C>A)
16g.51139641A>CCA395884424SALL1c.2581T>G (p.Ser861Ala)
c.2290T>G (p.Ser764Ala)
c.77-2089T>G (n.77-2089T>G)
16g.51139641A>GCA395884426SALL1c.2581T>C (p.Ser861Pro)
c.2290T>C (p.Ser764Pro)
c.77-2089T>C (n.77-2089T>C)
16g.51139641A>TCA395884427SALL1c.2581T>A (p.Ser861Thr)
c.2290T>A (p.Ser764Thr)
c.77-2089T>A (n.77-2089T>A)
16g.51139642C>ACA395884429SALL1c.2580G>T (p.Met860Ile)
c.2289G>T (p.Met763Ile)
c.77-2090G>T (n.77-2090G>T)
16g.51139642C>GCA395884430SALL1c.2580G>C (p.Met860Ile)
c.2289G>C (p.Met763Ile)
c.77-2090G>C (n.77-2090G>C)
16g.51139642C>TCA395884432SALL1c.2580G>A (p.Met860Ile)
c.2289G>A (p.Met763Ile)
c.77-2090G>A (n.77-2090G>A)
gnomAD v4
16g.51139643A>CCA395884433SALL1c.2579T>G (p.Met860Arg)
c.2288T>G (p.Met763Arg)
c.77-2091T>G (n.77-2091T>G)
16g.51139643A>GCA395884435SALL1c.2579T>C (p.Met860Thr)
c.2288T>C (p.Met763Thr)
c.77-2091T>C (n.77-2091T>C)
gnomAD v4
16g.51139643A>TCA395884436SALL1c.2579T>A (p.Met860Lys)
c.2288T>A (p.Met763Lys)
c.77-2091T>A (n.77-2091T>A)
16g.51139644T>ACA395884441SALL1c.2578A>T (p.Met860Leu)
c.2287A>T (p.Met763Leu)
c.77-2092A>T (n.77-2092A>T)
16g.51139644T>CCA395884440SALL1c.2578A>G (p.Met860Val)
c.2287A>G (p.Met763Val)
c.77-2092A>G (n.77-2092A>G)
16g.51139644T>GCA395884438SALL1c.2578A>C (p.Met860Leu)
c.2287A>C (p.Met763Leu)
c.77-2092A>C (n.77-2092A>C)
16g.51139645C>ACA395884444SALL1c.2577G>T (p.Glu859Asp)
c.2286G>T (p.Glu762Asp)
c.77-2093G>T (n.77-2093G>T)
16g.51139645C>GCA395884443SALL1c.2577G>C (p.Glu859Asp)
c.2286G>C (p.Glu762Asp)
c.77-2093G>C (n.77-2093G>C)
COSMIC
16g.51139645C>TCA495780329SALL1c.2577G>A (p.Glu859=)
c.2286G>A (p.Glu762=)
c.77-2093G>A (n.77-2093G>A)
gnomAD v4
16g.51139646T>ACA395884446SALL1c.2576A>T (p.Glu859Val)
c.2285A>T (p.Glu762Val)
c.77-2094A>T (n.77-2094A>T)
16g.51139646T>CCA395884448SALL1c.2576A>G (p.Glu859Gly)
c.2285A>G (p.Glu762Gly)
c.77-2094A>G (n.77-2094A>G)
16g.51139646T>GCA395884449SALL1c.2576A>C (p.Glu859Ala)
c.2285A>C (p.Glu762Ala)
c.77-2094A>C (n.77-2094A>C)
16g.51139647C>ACA395884451SALL1c.2575G>T (p.Glu859Ter)
c.2284G>T (p.Glu762Ter)
c.77-2095G>T (n.77-2095G>T)
16g.51139647C=CA2222018410SALL1c.2575G= (p.Glu859=)
c.2284G= (p.Glu762=)
c.77-2095G= (n.77-2095G=)
16g.51139647C>GCA395884452SALL1c.2575G>C (p.Glu859Gln)
c.2284G>C (p.Glu762Gln)
c.77-2095G>C (n.77-2095G>C)
dbSNP gnomAD v2 gnomAD v4
16g.51139647C>TCA281301223SALL1c.2575G>A (p.Glu859Lys)
c.2284G>A (p.Glu762Lys)
c.77-2095G>A (n.77-2095G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139648G>ACA8053075SALL1c.2574C>T (p.Leu858=)
c.2283C>T (p.Leu761=)
c.77-2096C>T (n.77-2096C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139648G>CCA495780330SALL1c.2574C>G (p.Leu858=)
c.2283C>G (p.Leu761=)
c.77-2096C>G (n.77-2096C>G)
dbSNP gnomAD v3 gnomAD v4
16g.51139648G=CA2222018416SALL1c.2574C= (p.Leu858=)
c.2283C= (p.Leu761=)
c.77-2096C= (n.77-2096C=)
16g.51139648G>TCA8053076SALL1c.2574C>A (p.Leu858=)
c.2283C>A (p.Leu761=)
c.77-2096C>A (n.77-2096C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139648_51139649delinsTTCA2499223540SALL1c.2573_2574delinsAA (p.Leu858Gln)
c.2282_2283delinsAA (p.Leu761Gln)
c.77-2097_77-2096delinsAA (n.77-2097_77-2096delinsAA)
ClinVar dbSNP
16g.51139649A=CA2222018422SALL1c.2573T= (p.Leu858=)
c.2282T= (p.Leu761=)
c.77-2097T= (n.77-2097T=)
16g.51139649A>CCA395884456SALL1c.2573T>G (p.Leu858Arg)
c.2282T>G (p.Leu761Arg)
c.77-2097T>G (n.77-2097T>G)
16g.51139649A>GCA395884457SALL1c.2573T>C (p.Leu858Pro)
c.2282T>C (p.Leu761Pro)
c.77-2097T>C (n.77-2097T>C)
16g.51139649A>TCA8053077SALL1c.2573T>A (p.Leu858His)
c.2282T>A (p.Leu761His)
c.77-2097T>A (n.77-2097T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139650G>ACA395884462SALL1c.2572C>T (p.Leu858Phe)
c.2281C>T (p.Leu761Phe)
c.77-2098C>T (n.77-2098C>T)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.51139650G>CCA395884463SALL1c.2572C>G (p.Leu858Val)
c.2281C>G (p.Leu761Val)
c.77-2098C>G (n.77-2098C>G)
16g.51139650G=CA2222018425SALL1c.2572C= (p.Leu858=)
c.2281C= (p.Leu761=)
c.77-2098C= (n.77-2098C=)
16g.51139650G>TCA395884460SALL1c.2572C>A (p.Leu858Ile)
c.2281C>A (p.Leu761Ile)
c.77-2098C>A (n.77-2098C>A)
16g.51139651G>ACA495780331SALL1c.2571C>T (p.Pro857=)
c.2280C>T (p.Pro760=)
c.77-2099C>T (n.77-2099C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51139651G>CCA495780332SALL1c.2571C>G (p.Pro857=)
c.2280C>G (p.Pro760=)
c.77-2099C>G (n.77-2099C>G)
gnomAD v4
16g.51139651G=CA2222018427SALL1c.2571C= (p.Pro857=)
c.2280C= (p.Pro760=)
c.77-2099C= (n.77-2099C=)
16g.51139651G>TCA495780333SALL1c.2571C>A (p.Pro857=)
c.2280C>A (p.Pro760=)
c.77-2099C>A (n.77-2099C>A)
16g.51139652G>ACA395884465SALL1c.2570C>T (p.Pro857Leu)
c.2279C>T (p.Pro760Leu)
c.77-2100C>T (n.77-2100C>T)
16g.51139652G>CCA395884467SALL1c.2570C>G (p.Pro857Arg)
c.2279C>G (p.Pro760Arg)
c.77-2100C>G (n.77-2100C>G)
16g.51139652G>TCA395884468SALL1c.2570C>A (p.Pro857His)
c.2279C>A (p.Pro760His)
c.77-2100C>A (n.77-2100C>A)
16g.51139653G>ACA395884469SALL1c.2569C>T (p.Pro857Ser)
c.2278C>T (p.Pro760Ser)
c.77-2101C>T (n.77-2101C>T)
dbSNP gnomAD v2 gnomAD v4
16g.51139653G>CCA395884470SALL1c.2569C>G (p.Pro857Ala)
c.2278C>G (p.Pro760Ala)
c.77-2101C>G (n.77-2101C>G)
16g.51139653G=CA2222018429SALL1c.2569C= (p.Pro857=)
c.2278C= (p.Pro760=)
c.77-2101C= (n.77-2101C=)
16g.51139653G>TCA395884473SALL1c.2569C>A (p.Pro857Thr)
c.2278C>A (p.Pro760Thr)
c.77-2101C>A (n.77-2101C>A)
dbSNP gnomAD v2 gnomAD v4
16g.51139654C>ACA395884474SALL1c.2568G>T (p.Leu856Phe)
c.2277G>T (p.Leu759Phe)
c.77-2102G>T (n.77-2102G>T)
16g.51139654C>GCA395884476SALL1c.2568G>C (p.Leu856Phe)
c.2277G>C (p.Leu759Phe)
c.77-2102G>C (n.77-2102G>C)
16g.51139654C>TCA495780334SALL1c.2568G>A (p.Leu856=)
c.2277G>A (p.Leu759=)
c.77-2102G>A (n.77-2102G>A)
16g.51139655A>CCA395884478SALL1c.2567T>G (p.Leu856Trp)
c.2276T>G (p.Leu759Trp)
c.77-2103T>G (n.77-2103T>G)
16g.51139655A>GCA395884479SALL1c.2567T>C (p.Leu856Ser)
c.2276T>C (p.Leu759Ser)
c.77-2103T>C (n.77-2103T>C)
16g.51139655A>TCA395884481SALL1c.2567T>A (p.Leu856Ter)
c.2276T>A (p.Leu759Ter)
c.77-2103T>A (n.77-2103T>A)
16g.51139656A>CCA395884482SALL1c.2566T>G (p.Leu856Val)
c.2275T>G (p.Leu759Val)
c.77-2104T>G (n.77-2104T>G)
16g.51139656A>GCA495780335SALL1c.2566T>C (p.Leu856=)
c.2275T>C (p.Leu759=)
c.77-2104T>C (n.77-2104T>C)
16g.51139656A>TCA395884484SALL1c.2566T>A (p.Leu856Met)
c.2275T>A (p.Leu759Met)
c.77-2104T>A (n.77-2104T>A)
16g.51139657A=CA2222018431SALL1c.2565T= (p.Pro855=)
c.2274T= (p.Pro758=)
c.77-2105T= (n.77-2105T=)
16g.51139657A>CCA8053078SALL1c.2565T>G (p.Pro855=)
c.2274T>G (p.Pro758=)
c.77-2105T>G (n.77-2105T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51139657A>GCA495780336SALL1c.2565T>C (p.Pro855=)
c.2274T>C (p.Pro758=)
c.77-2105T>C (n.77-2105T>C)
16g.51139657A>TCA495780337SALL1c.2565T>A (p.Pro855=)
c.2274T>A (p.Pro758=)
c.77-2105T>A (n.77-2105T>A)
16g.51139658G>ACA395884488SALL1c.2564C>T (p.Pro855Leu)
c.2273C>T (p.Pro758Leu)
c.77-2106C>T (n.77-2106C>T)
gnomAD v4
16g.51139658G>CCA395884489SALL1c.2564C>G (p.Pro855Arg)
c.2273C>G (p.Pro758Arg)
c.77-2106C>G (n.77-2106C>G)
16g.51139658G>TCA395884487SALL1c.2564C>A (p.Pro855His)
c.2273C>A (p.Pro758His)
c.77-2106C>A (n.77-2106C>A)
16g.51139659G>ACA8053079SALL1c.2563C>T (p.Pro855Ser)
c.2272C>T (p.Pro758Ser)
c.77-2107C>T (n.77-2107C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.51139659G>CCA395884494SALL1c.2563C>G (p.Pro855Ala)
c.2272C>G (p.Pro758Ala)
c.77-2107C>G (n.77-2107C>G)
16g.51139659G=CA2222018434SALL1c.2563C= (p.Pro855=)
c.2272C= (p.Pro758=)
c.77-2107C= (n.77-2107C=)
16g.51139659G>TCA395884492SALL1c.2563C>A (p.Pro855Thr)
c.2272C>A (p.Pro758Thr)
c.77-2107C>A (n.77-2107C>A)
16g.51139660C>ACA495780338SALL1c.2562G>T (p.Ser854=)
c.2271G>T (p.Ser757=)
c.77-2108G>T (n.77-2108G>T)
dbSNP gnomAD v2 gnomAD v4
16g.51139660C=CA2222018439SALL1c.2562G= (p.Ser854=)
c.2271G= (p.Ser757=)
c.77-2108G= (n.77-2108G=)
16g.51139660C>GCA495780339SALL1c.2562G>C (p.Ser854=)
c.2271G>C (p.Ser757=)
c.77-2108G>C (n.77-2108G>C)
dbSNP
16g.51139660C>TCA8053080SALL1c.2562G>A (p.Ser854=)
c.2271G>A (p.Ser757=)
c.77-2108G>A (n.77-2108G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51139661G>ACA8053081SALL1c.2561C>T (p.Ser854Leu)
c.2270C>T (p.Ser757Leu)
c.77-2109C>T (n.77-2109C>T)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.51139661G>CCA395884497SALL1c.2561C>G (p.Ser854Trp)
c.2270C>G (p.Ser757Trp)
c.77-2109C>G (n.77-2109C>G)
16g.51139661G=CA2222018443SALL1c.2561C= (p.Ser854=)
c.2270C= (p.Ser757=)
c.77-2109C= (n.77-2109C=)
16g.51139661G>TCA395884499SALL1c.2561C>A (p.Ser854Ter)
c.2270C>A (p.Ser757Ter)
c.77-2109C>A (n.77-2109C>A)

Number of alleles fetched