Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51139556T>A | CA395884151 | SALL1 | c.2666A>T (p.Glu889Val) c.2375A>T (p.Glu792Val) c.77-2004A>T (n.77-2004A>T) | |
16 | g.51139556T>C | CA395884152 | SALL1 | c.2666A>G (p.Glu889Gly) c.2375A>G (p.Glu792Gly) c.77-2004A>G (n.77-2004A>G) | |
16 | g.51139556T>G | CA395884153 | SALL1 | c.2666A>C (p.Glu889Ala) c.2375A>C (p.Glu792Ala) c.77-2004A>C (n.77-2004A>C) | |
16 | g.51139557C>A | CA395884154 | SALL1 | c.2665G>T (p.Glu889Ter) c.2374G>T (p.Glu792Ter) c.77-2005G>T (n.77-2005G>T) | |
16 | g.51139557C= | CA2222018274 | SALL1 | c.2665G= (p.Glu889=) c.2374G= (p.Glu792=) c.77-2005G= (n.77-2005G=) | |
16 | g.51139557C>G | CA395884155 | SALL1 | c.2665G>C (p.Glu889Gln) c.2374G>C (p.Glu792Gln) c.77-2005G>C (n.77-2005G>C) | |
16 | g.51139557C>T | CA395884156 | SALL1 | c.2665G>A (p.Glu889Lys) c.2374G>A (p.Glu792Lys) c.77-2005G>A (n.77-2005G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139558C>A | CA495780277 | SALL1 | c.2664G>T (p.Val888=) c.2373G>T (p.Val791=) c.77-2006G>T (n.77-2006G>T) | |
16 | g.51139558C>G | CA495780279 | SALL1 | c.2664G>C (p.Val888=) c.2373G>C (p.Val791=) c.77-2006G>C (n.77-2006G>C) | |
16 | g.51139558C>T | CA495780278 | SALL1 | c.2664G>A (p.Val888=) c.2373G>A (p.Val791=) c.77-2006G>A (n.77-2006G>A) | |
16 | g.51139559A>C | CA395884157 | SALL1 | c.2663T>G (p.Val888Gly) c.2372T>G (p.Val791Gly) c.77-2007T>G (n.77-2007T>G) | |
16 | g.51139559A>G | CA395884158 | SALL1 | c.2663T>C (p.Val888Ala) c.2372T>C (p.Val791Ala) c.77-2007T>C (n.77-2007T>C) | |
16 | g.51139559A>T | CA395884159 | SALL1 | c.2663T>A (p.Val888Glu) c.2372T>A (p.Val791Glu) c.77-2007T>A (n.77-2007T>A) | |
16 | g.51139560C>A | CA395884162 | SALL1 | c.2662G>T (p.Val888Leu) c.2371G>T (p.Val791Leu) c.77-2008G>T (n.77-2008G>T) | |
16 | g.51139560C>G | CA395884161 | SALL1 | c.2662G>C (p.Val888Leu) c.2371G>C (p.Val791Leu) c.77-2008G>C (n.77-2008G>C) | |
16 | g.51139560C>T | CA395884160 | SALL1 | c.2662G>A (p.Val888Met) c.2371G>A (p.Val791Met) c.77-2008G>A (n.77-2008G>A) | |
16 | g.51139561T>A | CA495780280 | SALL1 | c.2661A>T (p.Ser887=) c.2370A>T (p.Ser790=) c.77-2009A>T (n.77-2009A>T) | |
16 | g.51139561T>C | CA495780281 | SALL1 | c.2661A>G (p.Ser887=) c.2370A>G (p.Ser790=) c.77-2009A>G (n.77-2009A>G) | |
16 | g.51139561T>G | CA495780282 | SALL1 | c.2661A>C (p.Ser887=) c.2370A>C (p.Ser790=) c.77-2009A>C (n.77-2009A>C) | |
16 | g.51139562G>A | CA395884163 | SALL1 | c.2660C>T (p.Ser887Leu) c.2369C>T (p.Ser790Leu) c.77-2010C>T (n.77-2010C>T) | |
16 | g.51139562G>C | CA395884164 | SALL1 | c.2660C>G (p.Ser887Ter) c.2369C>G (p.Ser790Ter) c.77-2010C>G (n.77-2010C>G) | |
16 | g.51139562G>T | CA395884165 | SALL1 | c.2660C>A (p.Ser887Ter) c.2369C>A (p.Ser790Ter) c.77-2010C>A (n.77-2010C>A) | |
16 | g.51139563A>C | CA395884166 | SALL1 | c.2659T>G (p.Ser887Ala) c.2368T>G (p.Ser790Ala) c.77-2011T>G (n.77-2011T>G) | |
16 | g.51139563A>G | CA395884167 | SALL1 | c.2659T>C (p.Ser887Pro) c.2368T>C (p.Ser790Pro) c.77-2011T>C (n.77-2011T>C) | |
16 | g.51139563A>T | CA395884168 | SALL1 | c.2659T>A (p.Ser887Thr) c.2368T>A (p.Ser790Thr) c.77-2011T>A (n.77-2011T>A) | |
16 | g.51139564C>A | CA395884170 | SALL1 | c.2658G>T (p.Lys886Asn) c.2367G>T (p.Lys789Asn) c.77-2012G>T (n.77-2012G>T) | |
16 | g.51139564C>G | CA395884169 | SALL1 | c.2658G>C (p.Lys886Asn) c.2367G>C (p.Lys789Asn) c.77-2012G>C (n.77-2012G>C) | |
16 | g.51139564C>T | CA495780283 | SALL1 | c.2658G>A (p.Lys886=) c.2367G>A (p.Lys789=) c.77-2012G>A (n.77-2012G>A) | |
16 | g.51139565T>A | CA395884171 | SALL1 | c.2657A>T (p.Lys886Met) c.2366A>T (p.Lys789Met) c.77-2013A>T (n.77-2013A>T) | |
16 | g.51139565T>C | CA395884172 | SALL1 | c.2657A>G (p.Lys886Arg) c.2366A>G (p.Lys789Arg) c.77-2013A>G (n.77-2013A>G) | |
16 | g.51139565T>G | CA395884173 | SALL1 | c.2657A>C (p.Lys886Thr) c.2366A>C (p.Lys789Thr) c.77-2013A>C (n.77-2013A>C) | |
16 | g.51139566T>A | CA395884174 | SALL1 | c.2656A>T (p.Lys886Ter) c.2365A>T (p.Lys789Ter) c.77-2014A>T (n.77-2014A>T) | |
16 | g.51139566T>C | CA395884175 | SALL1 | c.2656A>G (p.Lys886Glu) c.2365A>G (p.Lys789Glu) c.77-2014A>G (n.77-2014A>G) | |
16 | g.51139566T>G | CA395884176 | SALL1 | c.2656A>C (p.Lys886Gln) c.2365A>C (p.Lys789Gln) c.77-2014A>C (n.77-2014A>C) | |
16 | g.51139567C>A | CA495780284 | SALL1 | c.2655G>T (p.Leu885=) c.2364G>T (p.Leu788=) c.77-2015G>T (n.77-2015G>T) | |
16 | g.51139567C>G | CA495780285 | SALL1 | c.2655G>C (p.Leu885=) c.2364G>C (p.Leu788=) c.77-2015G>C (n.77-2015G>C) | |
16 | g.51139567C>T | CA495780286 | SALL1 | c.2655G>A (p.Leu885=) c.2364G>A (p.Leu788=) c.77-2015G>A (n.77-2015G>A) | |
16 | g.51139568A>C | CA395884177 | SALL1 | c.2654T>G (p.Leu885Arg) c.2363T>G (p.Leu788Arg) c.77-2016T>G (n.77-2016T>G) | |
16 | g.51139568A>G | CA395884179 | SALL1 | c.2654T>C (p.Leu885Pro) c.2363T>C (p.Leu788Pro) c.77-2016T>C (n.77-2016T>C) | |
16 | g.51139568A>T | CA395884178 | SALL1 | c.2654T>A (p.Leu885Gln) c.2363T>A (p.Leu788Gln) c.77-2016T>A (n.77-2016T>A) | |
16 | g.51139569G>A | CA495780287 | SALL1 | c.2653C>T (p.Leu885=) c.2362C>T (p.Leu788=) c.77-2017C>T (n.77-2017C>T) | |
16 | g.51139569G>C | CA395884180 | SALL1 | c.2653C>G (p.Leu885Val) c.2362C>G (p.Leu788Val) c.77-2017C>G (n.77-2017C>G) | |
16 | g.51139569G>T | CA395884181 | SALL1 | c.2653C>A (p.Leu885Met) c.2362C>A (p.Leu788Met) c.77-2017C>A (n.77-2017C>A) | |
16 | g.51139570G>A | CA495780288 | SALL1 | c.2652C>T (p.Ser884=) c.2361C>T (p.Ser787=) c.77-2018C>T (n.77-2018C>T) | |
16 | g.51139570G>C | CA395884182 | SALL1 | c.2652C>G (p.Ser884Arg) c.2361C>G (p.Ser787Arg) c.77-2018C>G (n.77-2018C>G) | |
16 | g.51139570G>T | CA395884183 | SALL1 | c.2652C>A (p.Ser884Arg) c.2361C>A (p.Ser787Arg) c.77-2018C>A (n.77-2018C>A) | |
16 | g.51139571C>A | CA395884184 | SALL1 | c.2651G>T (p.Ser884Ile) c.2360G>T (p.Ser787Ile) c.77-2019G>T (n.77-2019G>T) | |
16 | g.51139571C>G | CA395884185 | SALL1 | c.2651G>C (p.Ser884Thr) c.2360G>C (p.Ser787Thr) c.77-2019G>C (n.77-2019G>C) | |
16 | g.51139571C>T | CA395884186 | SALL1 | c.2651G>A (p.Ser884Asn) c.2360G>A (p.Ser787Asn) c.77-2019G>A (n.77-2019G>A) | gnomAD v4 |
16 | g.51139572T>A | CA395884187 | SALL1 | c.2650A>T (p.Ser884Cys) c.2359A>T (p.Ser787Cys) c.77-2020A>T (n.77-2020A>T) | |
16 | g.51139572T>C | CA395884188 | SALL1 | c.2650A>G (p.Ser884Gly) c.2359A>G (p.Ser787Gly) c.77-2020A>G (n.77-2020A>G) | |
16 | g.51139572T>G | CA395884189 | SALL1 | c.2650A>C (p.Ser884Arg) c.2359A>C (p.Ser787Arg) c.77-2020A>C (n.77-2020A>C) | |
16 | g.51139573G>A | CA495780291 | SALL1 | c.2649C>T (p.Ala883=) c.2358C>T (p.Ala786=) c.77-2021C>T (n.77-2021C>T) | |
16 | g.51139573G>C | CA495780289 | SALL1 | c.2649C>G (p.Ala883=) c.2358C>G (p.Ala786=) c.77-2021C>G (n.77-2021C>G) | |
16 | g.51139573G>T | CA495780290 | SALL1 | c.2649C>A (p.Ala883=) c.2358C>A (p.Ala786=) c.77-2021C>A (n.77-2021C>A) | gnomAD v4 |
16 | g.51139574G>A | CA395884190 | SALL1 | c.2648C>T (p.Ala883Val) c.2357C>T (p.Ala786Val) c.77-2022C>T (n.77-2022C>T) | |
16 | g.51139574G>C | CA395884192 | SALL1 | c.2648C>G (p.Ala883Gly) c.2357C>G (p.Ala786Gly) c.77-2022C>G (n.77-2022C>G) | |
16 | g.51139574G>T | CA395884191 | SALL1 | c.2648C>A (p.Ala883Asp) c.2357C>A (p.Ala786Asp) c.77-2022C>A (n.77-2022C>A) | |
16 | g.51139575C>A | CA395884193 | SALL1 | c.2647G>T (p.Ala883Ser) c.2356G>T (p.Ala786Ser) c.77-2023G>T (n.77-2023G>T) | |
16 | g.51139575C>G | CA395884195 | SALL1 | c.2647G>C (p.Ala883Pro) c.2356G>C (p.Ala786Pro) c.77-2023G>C (n.77-2023G>C) | |
16 | g.51139575C>T | CA395884194 | SALL1 | c.2647G>A (p.Ala883Thr) c.2356G>A (p.Ala786Thr) c.77-2023G>A (n.77-2023G>A) | |
16 | g.51139576C>A | CA395884196 | SALL1 | c.2646G>T (p.Gln882His) c.2355G>T (p.Gln785His) c.77-2024G>T (n.77-2024G>T) | |
16 | g.51139576C>G | CA395884197 | SALL1 | c.2646G>C (p.Gln882His) c.2355G>C (p.Gln785His) c.77-2024G>C (n.77-2024G>C) | gnomAD v4 |
16 | g.51139576C>T | CA495780292 | SALL1 | c.2646G>A (p.Gln882=) c.2355G>A (p.Gln785=) c.77-2024G>A (n.77-2024G>A) | |
16 | g.51139577T>A | CA8053061 | SALL1 | c.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 |
16 | g.51139577T>C | CA395884199 | SALL1 | c.2645A>G (p.Gln882Arg) c.2354A>G (p.Gln785Arg) c.77-2025A>G (n.77-2025A>G) | |
16 | g.51139577T>G | CA395884198 | SALL1 | c.2645A>C (p.Gln882Pro) c.2354A>C (p.Gln785Pro) c.77-2025A>C (n.77-2025A>C) | |
16 | g.51139577T= | CA2222018280 | SALL1 | c.2645A= (p.Gln882=) c.2354A= (p.Gln785=) c.77-2025A= (n.77-2025A=) | |
16 | g.51139578G>A | CA395884200 | SALL1 | c.2644C>T (p.Gln882Ter) c.2353C>T (p.Gln785Ter) c.77-2026C>T (n.77-2026C>T) | |
16 | g.51139578G>C | CA395884202 | SALL1 | c.2644C>G (p.Gln882Glu) c.2353C>G (p.Gln785Glu) c.77-2026C>G (n.77-2026C>G) | |
16 | g.51139578G>T | CA395884201 | SALL1 | c.2644C>A (p.Gln882Lys) c.2353C>A (p.Gln785Lys) c.77-2026C>A (n.77-2026C>A) | |
16 | g.51139578_51139579insGCA | CA2841550737 | SALL1 | c.2643_2644insTGC (p.Leu881_Gln882insCys) c.2352_2353insTGC (p.Leu784_Gln785insCys) c.77-2027_77-2026insTGC (n.77-2027_77-2026insTGC) | |
16 | g.51139579T>A | CA495780295 | SALL1 | c.2643A>T (p.Leu881=) c.2352A>T (p.Leu784=) c.77-2027A>T (n.77-2027A>T) | |
16 | g.51139579T>C | CA495780293 | SALL1 | c.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 |
16 | g.51139579T>G | CA495780294 | SALL1 | c.2643A>C (p.Leu881=) c.2352A>C (p.Leu784=) c.77-2027A>C (n.77-2027A>C) | ClinVar |
16 | g.51139579T= | CA2222018283 | SALL1 | c.2643A= (p.Leu881=) c.2352A= (p.Leu784=) c.77-2027A= (n.77-2027A=) | |
16 | g.51139580A= | CA2222018288 | SALL1 | c.2642T= (p.Leu881=) c.2351T= (p.Leu784=) c.77-2028T= (n.77-2028T=) | |
16 | g.51139580A>C | CA395884203 | SALL1 | c.2642T>G (p.Leu881Arg) c.2351T>G (p.Leu784Arg) c.77-2028T>G (n.77-2028T>G) | |
16 | g.51139580A>G | CA395884205 | SALL1 | c.2642T>C (p.Leu881Pro) c.2351T>C (p.Leu784Pro) c.77-2028T>C (n.77-2028T>C) | dbSNP |
16 | g.51139580A>T | CA395884204 | SALL1 | c.2642T>A (p.Leu881Gln) c.2351T>A (p.Leu784Gln) c.77-2028T>A (n.77-2028T>A) | |
16 | g.51139581G>A | CA495780296 | SALL1 | c.2641C>T (p.Leu881=) c.2350C>T (p.Leu784=) c.77-2029C>T (n.77-2029C>T) | |
16 | g.51139581G>C | CA395884207 | SALL1 | c.2641C>G (p.Leu881Val) c.2350C>G (p.Leu784Val) c.77-2029C>G (n.77-2029C>G) | |
16 | g.51139581G>T | CA395884208 | SALL1 | c.2641C>A (p.Leu881Ile) c.2350C>A (p.Leu784Ile) c.77-2029C>A (n.77-2029C>A) | |
16 | g.51139582C>A | CA395884210 | SALL1 | c.2640G>T (p.Gln880His) c.2349G>T (p.Gln783His) c.77-2030G>T (n.77-2030G>T) | |
16 | g.51139582C= | CA2222018292 | SALL1 | c.2640G= (p.Gln880=) c.2349G= (p.Gln783=) c.77-2030G= (n.77-2030G=) | |
16 | g.51139582C>G | CA395884212 | SALL1 | c.2640G>C (p.Gln880His) c.2349G>C (p.Gln783His) c.77-2030G>C (n.77-2030G>C) | |
16 | g.51139582C>T | CA495780297 | SALL1 | c.2640G>A (p.Gln880=) c.2349G>A (p.Gln783=) c.77-2030G>A (n.77-2030G>A) | dbSNP gnomAD v4 |
16 | g.51139583T>A | CA395884213 | SALL1 | c.2639A>T (p.Gln880Leu) c.2348A>T (p.Gln783Leu) c.77-2031A>T (n.77-2031A>T) | |
16 | g.51139583T>C | CA395884214 | SALL1 | c.2639A>G (p.Gln880Arg) c.2348A>G (p.Gln783Arg) c.77-2031A>G (n.77-2031A>G) | |
16 | g.51139583T>G | CA395884215 | SALL1 | c.2639A>C (p.Gln880Pro) c.2348A>C (p.Gln783Pro) c.77-2031A>C (n.77-2031A>C) | |
16 | g.51139584G>A | CA395884218 | SALL1 | c.2638C>T (p.Gln880Ter) c.2347C>T (p.Gln783Ter) c.77-2032C>T (n.77-2032C>T) | |
16 | g.51139584G>C | CA395884216 | SALL1 | c.2638C>G (p.Gln880Glu) c.2347C>G (p.Gln783Glu) c.77-2032C>G (n.77-2032C>G) | ClinVar |
16 | g.51139584G>T | CA395884217 | SALL1 | c.2638C>A (p.Gln880Lys) c.2347C>A (p.Gln783Lys) c.77-2032C>A (n.77-2032C>A) | |
16 | g.51139585C>A | CA395884219 | SALL1 | c.2637G>T (p.Glu879Asp) c.2346G>T (p.Glu782Asp) c.77-2033G>T (n.77-2033G>T) | |
16 | g.51139585C= | CA2222018295 | SALL1 | c.2637G= (p.Glu879=) c.2346G= (p.Glu782=) c.77-2033G= (n.77-2033G=) | |
16 | g.51139585C>G | CA395884220 | SALL1 | c.2637G>C (p.Glu879Asp) c.2346G>C (p.Glu782Asp) c.77-2033G>C (n.77-2033G>C) | |
16 | g.51139585C>T | CA495780298 | SALL1 | c.2637G>A (p.Glu879=) c.2346G>A (p.Glu782=) c.77-2033G>A (n.77-2033G>A) | dbSNP gnomAD v4 COSMIC |
16 | g.51139586T>A | CA395884223 | SALL1 | c.2636A>T (p.Glu879Val) c.2345A>T (p.Glu782Val) c.77-2034A>T (n.77-2034A>T) | |
16 | g.51139586T>C | CA395884224 | SALL1 | c.2636A>G (p.Glu879Gly) c.2345A>G (p.Glu782Gly) c.77-2034A>G (n.77-2034A>G) | |
16 | g.51139586T>G | CA395884225 | SALL1 | c.2636A>C (p.Glu879Ala) c.2345A>C (p.Glu782Ala) c.77-2034A>C (n.77-2034A>C) | |
16 | g.51139587C>A | CA395884231 | SALL1 | c.2635G>T (p.Glu879Ter) c.2344G>T (p.Glu782Ter) c.77-2035G>T (n.77-2035G>T) | |
16 | g.51139587C>G | CA395884227 | SALL1 | c.2635G>C (p.Glu879Gln) c.2344G>C (p.Glu782Gln) c.77-2035G>C (n.77-2035G>C) | |
16 | g.51139587C>T | CA395884229 | SALL1 | c.2635G>A (p.Glu879Lys) c.2344G>A (p.Glu782Lys) c.77-2035G>A (n.77-2035G>A) | |
16 | g.51139588_51139590del | CA2841550738 | SALL1 | c.2633_2635del (p.Ala878del) c.2342_2344del (p.Ala781del) c.77-2037_77-2035del (n.77-2037_77-2035del) | |
16 | g.51139588T>A | CA495780299 | SALL1 | c.2634A>T (p.Ala878=) c.2343A>T (p.Ala781=) c.77-2036A>T (n.77-2036A>T) | |
16 | g.51139588T>C | CA495780300 | SALL1 | c.2634A>G (p.Ala878=) c.2343A>G (p.Ala781=) c.77-2036A>G (n.77-2036A>G) | dbSNP |
16 | g.51139588T>G | CA495780301 | SALL1 | c.2634A>C (p.Ala878=) c.2343A>C (p.Ala781=) c.77-2036A>C (n.77-2036A>C) | |
16 | g.51139588T= | CA2222018300 | SALL1 | c.2634A= (p.Ala878=) c.2343A= (p.Ala781=) c.77-2036A= (n.77-2036A=) | |
16 | g.51139589G>A | CA395884233 | SALL1 | c.2633C>T (p.Ala878Val) c.2342C>T (p.Ala781Val) c.77-2037C>T (n.77-2037C>T) | dbSNP gnomAD v4 |
16 | g.51139589G>C | CA395884235 | SALL1 | c.2633C>G (p.Ala878Gly) c.2342C>G (p.Ala781Gly) c.77-2037C>G (n.77-2037C>G) | |
16 | g.51139589G= | CA2222018306 | SALL1 | c.2633C= (p.Ala878=) c.2342C= (p.Ala781=) c.77-2037C= (n.77-2037C=) | |
16 | g.51139589G>T | CA8053062 | SALL1 | c.2633C>A (p.Ala878Glu) c.2342C>A (p.Ala781Glu) c.77-2037C>A (n.77-2037C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139590C>A | CA395884237 | SALL1 | c.2632G>T (p.Ala878Ser) c.2341G>T (p.Ala781Ser) c.77-2038G>T (n.77-2038G>T) | |
16 | g.51139590C>G | CA395884239 | SALL1 | c.2632G>C (p.Ala878Pro) c.2341G>C (p.Ala781Pro) c.77-2038G>C (n.77-2038G>C) | |
16 | g.51139590C>T | CA395884240 | SALL1 | c.2632G>A (p.Ala878Thr) c.2341G>A (p.Ala781Thr) c.77-2038G>A (n.77-2038G>A) | gnomAD v4 |
16 | g.51139591C>A | CA495780302 | SALL1 | c.2631G>T (p.Leu877=) c.2340G>T (p.Leu780=) c.77-2039G>T (n.77-2039G>T) | |
16 | g.51139591C= | CA2222018310 | SALL1 | c.2631G= (p.Leu877=) c.2340G= (p.Leu780=) c.77-2039G= (n.77-2039G=) | |
16 | g.51139591C>G | CA495780303 | SALL1 | c.2631G>C (p.Leu877=) c.2340G>C (p.Leu780=) c.77-2039G>C (n.77-2039G>C) | |
16 | g.51139591C>T | CA8053063 | SALL1 | c.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 |
16 | g.51139592A= | CA2222018315 | SALL1 | c.2630T= (p.Leu877=) c.2339T= (p.Leu780=) c.77-2040T= (n.77-2040T=) | |
16 | g.51139592A>C | CA395884242 | SALL1 | c.2630T>G (p.Leu877Arg) c.2339T>G (p.Leu780Arg) c.77-2040T>G (n.77-2040T>G) | |
16 | g.51139592A>G | CA395884243 | SALL1 | c.2630T>C (p.Leu877Pro) c.2339T>C (p.Leu780Pro) c.77-2040T>C (n.77-2040T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139592A>T | CA395884244 | SALL1 | c.2630T>A (p.Leu877Gln) c.2339T>A (p.Leu780Gln) c.77-2040T>A (n.77-2040T>A) | |
16 | g.51139593G>A | CA8053064 | SALL1 | c.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 |
16 | g.51139593G>C | CA395884247 | SALL1 | c.2629C>G (p.Leu877Val) c.2338C>G (p.Leu780Val) c.77-2041C>G (n.77-2041C>G) | |
16 | g.51139593G= | CA2222018318 | SALL1 | c.2629C= (p.Leu877=) c.2338C= (p.Leu780=) c.77-2041C= (n.77-2041C=) | |
16 | g.51139593G>T | CA395884249 | SALL1 | c.2629C>A (p.Leu877Met) c.2338C>A (p.Leu780Met) c.77-2041C>A (n.77-2041C>A) | |
16 | g.51139594G>A | CA495780306 | SALL1 | c.2628C>T (p.Gly876=) c.2337C>T (p.Gly779=) c.77-2042C>T (n.77-2042C>T) | |
16 | g.51139594G>C | CA495780304 | SALL1 | c.2628C>G (p.Gly876=) c.2337C>G (p.Gly779=) c.77-2042C>G (n.77-2042C>G) | |
16 | g.51139594G>T | CA495780305 | SALL1 | c.2628C>A (p.Gly876=) c.2337C>A (p.Gly779=) c.77-2042C>A (n.77-2042C>A) | |
16 | g.51139595C>A | CA395884250 | SALL1 | c.2627G>T (p.Gly876Val) c.2336G>T (p.Gly779Val) c.77-2043G>T (n.77-2043G>T) | |
16 | g.51139595C= | CA2222018322 | SALL1 | c.2627G= (p.Gly876=) c.2336G= (p.Gly779=) c.77-2043G= (n.77-2043G=) | |
16 | g.51139595C>G | CA395884253 | SALL1 | c.2627G>C (p.Gly876Ala) c.2336G>C (p.Gly779Ala) c.77-2043G>C (n.77-2043G>C) | |
16 | g.51139595C>T | CA395884251 | SALL1 | c.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 |
16 | g.51139596C>A | CA395884254 | SALL1 | c.2626G>T (p.Gly876Cys) c.2335G>T (p.Gly779Cys) c.77-2044G>T (n.77-2044G>T) | |
16 | g.51139596C>G | CA395884256 | SALL1 | c.2626G>C (p.Gly876Arg) c.2335G>C (p.Gly779Arg) c.77-2044G>C (n.77-2044G>C) | |
16 | g.51139596C>T | CA395884258 | SALL1 | c.2626G>A (p.Gly876Ser) c.2335G>A (p.Gly779Ser) c.77-2044G>A (n.77-2044G>A) | |
16 | g.51139597A>C | CA495780307 | SALL1 | c.2625T>G (p.Ala875=) c.2334T>G (p.Ala778=) c.77-2045T>G (n.77-2045T>G) | |
16 | g.51139597A>G | CA495780308 | SALL1 | c.2625T>C (p.Ala875=) c.2334T>C (p.Ala778=) c.77-2045T>C (n.77-2045T>C) | |
16 | g.51139597A>T | CA495780309 | SALL1 | c.2625T>A (p.Ala875=) c.2334T>A (p.Ala778=) c.77-2045T>A (n.77-2045T>A) | |
16 | g.51139598G>A | CA395884259 | SALL1 | c.2624C>T (p.Ala875Val) c.2333C>T (p.Ala778Val) c.77-2046C>T (n.77-2046C>T) | |
16 | g.51139598G>C | CA395884260 | SALL1 | c.2624C>G (p.Ala875Gly) c.2333C>G (p.Ala778Gly) c.77-2046C>G (n.77-2046C>G) | |
16 | g.51139598G>T | CA395884262 | SALL1 | c.2624C>A (p.Ala875Asp) c.2333C>A (p.Ala778Asp) c.77-2046C>A (n.77-2046C>A) | |
16 | g.51139599C>A | CA395884267 | SALL1 | c.2623G>T (p.Ala875Ser) c.2332G>T (p.Ala778Ser) c.77-2047G>T (n.77-2047G>T) | |
16 | g.51139599C>G | CA395884264 | SALL1 | c.2623G>C (p.Ala875Pro) c.2332G>C (p.Ala778Pro) c.77-2047G>C (n.77-2047G>C) | |
16 | g.51139599C>T | CA395884266 | SALL1 | c.2623G>A (p.Ala875Thr) c.2332G>A (p.Ala778Thr) c.77-2047G>A (n.77-2047G>A) | |
16 | g.51139600A>C | CA395884268 | SALL1 | c.2622T>G (p.Asn874Lys) c.2331T>G (p.Asn777Lys) c.77-2048T>G (n.77-2048T>G) | |
16 | g.51139600A>G | CA495780310 | SALL1 | c.2622T>C (p.Asn874=) c.2331T>C (p.Asn777=) c.77-2048T>C (n.77-2048T>C) | |
16 | g.51139600A>T | CA395884270 | SALL1 | c.2622T>A (p.Asn874Lys) c.2331T>A (p.Asn777Lys) c.77-2048T>A (n.77-2048T>A) | |
16 | g.51139601T>A | CA395884271 | SALL1 | c.2621A>T (p.Asn874Ile) c.2330A>T (p.Asn777Ile) c.77-2049A>T (n.77-2049A>T) | gnomAD v4 |
16 | g.51139601T>C | CA281301195 | SALL1 | c.2621A>G (p.Asn874Ser) c.2330A>G (p.Asn777Ser) c.77-2049A>G (n.77-2049A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139601T>G | CA395884273 | SALL1 | c.2621A>C (p.Asn874Thr) c.2330A>C (p.Asn777Thr) c.77-2049A>C (n.77-2049A>C) | ClinVar dbSNP |
16 | g.51139601T= | CA2222018327 | SALL1 | c.2621A= (p.Asn874=) c.2330A= (p.Asn777=) c.77-2049A= (n.77-2049A=) | |
16 | g.51139602T>A | CA395884275 | SALL1 | c.2620A>T (p.Asn874Tyr) c.2329A>T (p.Asn777Tyr) c.77-2050A>T (n.77-2050A>T) | |
16 | g.51139602T>C | CA395884278 | SALL1 | c.2620A>G (p.Asn874Asp) c.2329A>G (p.Asn777Asp) c.77-2050A>G (n.77-2050A>G) | gnomAD v4 |
16 | g.51139602T>G | CA395884277 | SALL1 | c.2620A>C (p.Asn874His) c.2329A>C (p.Asn777His) c.77-2050A>C (n.77-2050A>C) | |
16 | g.51139603G>A | CA495780311 | SALL1 | c.2619C>T (p.Ile873=) c.2328C>T (p.Ile776=) c.77-2051C>T (n.77-2051C>T) | |
16 | g.51139603G>C | CA8053065 | SALL1 | c.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 |
16 | g.51139603G= | CA2222018330 | SALL1 | c.2619C= (p.Ile873=) c.2328C= (p.Ile776=) c.77-2051C= (n.77-2051C=) | |
16 | g.51139603G>T | CA495780312 | SALL1 | c.2619C>A (p.Ile873=) c.2328C>A (p.Ile776=) c.77-2051C>A (n.77-2051C>A) | |
16 | g.51139603_51139606delinsGATC | CA2222018328 | SALL1 | c.2616_2619delinsGATC (p.Met872=) c.2325_2328delinsGATC (p.Met775=) c.77-2054_77-2051delinsGATC (n.77-2054_77-2051delinsGATC) | |
16 | g.51139604A>C | CA395884281 | SALL1 | c.2618T>G (p.Ile873Ser) c.2327T>G (p.Ile776Ser) c.77-2052T>G (n.77-2052T>G) | |
16 | g.51139604A>G | CA395884283 | SALL1 | c.2618T>C (p.Ile873Thr) c.2327T>C (p.Ile776Thr) c.77-2052T>C (n.77-2052T>C) | |
16 | g.51139604A>T | CA395884284 | SALL1 | c.2618T>A (p.Ile873Asn) c.2327T>A (p.Ile776Asn) c.77-2052T>A (n.77-2052T>A) | gnomAD v4 |
16 | g.51139607_51139609del | CA8053066 | SALL1 | c.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 |
16 | g.51139605T>A | CA395884286 | SALL1 | c.2617A>T (p.Ile873Phe) c.2326A>T (p.Ile776Phe) c.77-2053A>T (n.77-2053A>T) | |
16 | g.51139605T>C | CA395884288 | SALL1 | c.2617A>G (p.Ile873Val) c.2326A>G (p.Ile776Val) c.77-2053A>G (n.77-2053A>G) | |
16 | g.51139605T>G | CA395884289 | SALL1 | c.2617A>C (p.Ile873Leu) c.2326A>C (p.Ile776Leu) c.77-2053A>C (n.77-2053A>C) | |
16 | g.51139606C>A | CA395884291 | SALL1 | c.2616G>T (p.Met872Ile) c.2325G>T (p.Met775Ile) c.77-2054G>T (n.77-2054G>T) | |
16 | g.51139606C= | CA2222018335 | SALL1 | c.2616G= (p.Met872=) c.2325G= (p.Met775=) c.77-2054G= (n.77-2054G=) | |
16 | g.51139606C>G | CA395884292 | SALL1 | c.2616G>C (p.Met872Ile) c.2325G>C (p.Met775Ile) c.77-2054G>C (n.77-2054G>C) | |
16 | g.51139606C>T | CA395884294 | SALL1 | c.2616G>A (p.Met872Ile) c.2325G>A (p.Met775Ile) c.77-2054G>A (n.77-2054G>A) | dbSNP gnomAD v4 |
16 | g.51139607A>C | CA395884299 | SALL1 | c.2615T>G (p.Met872Arg) c.2324T>G (p.Met775Arg) c.77-2055T>G (n.77-2055T>G) | |
16 | g.51139607A>G | CA395884296 | SALL1 | c.2615T>C (p.Met872Thr) c.2324T>C (p.Met775Thr) c.77-2055T>C (n.77-2055T>C) | gnomAD v4 COSMIC |
16 | g.51139607A>T | CA395884297 | SALL1 | c.2615T>A (p.Met872Lys) c.2324T>A (p.Met775Lys) c.77-2055T>A (n.77-2055T>A) | |
16 | g.51139608T>A | CA395884301 | SALL1 | c.2614A>T (p.Met872Leu) c.2323A>T (p.Met775Leu) c.77-2056A>T (n.77-2056A>T) | |
16 | g.51139608T>C | CA395884302 | SALL1 | c.2614A>G (p.Met872Val) c.2323A>G (p.Met775Val) c.77-2056A>G (n.77-2056A>G) | dbSNP gnomAD v4 |
16 | g.51139608T>G | CA395884303 | SALL1 | c.2614A>C (p.Met872Leu) c.2323A>C (p.Met775Leu) c.77-2056A>C (n.77-2056A>C) | |
16 | g.51139608T= | CA2222018340 | SALL1 | c.2614A= (p.Met872=) c.2323A= (p.Met775=) c.77-2056A= (n.77-2056A=) | |
16 | g.51139609C>A | CA395884305 | SALL1 | c.2613G>T (p.Lys871Asn) c.2322G>T (p.Lys774Asn) c.77-2057G>T (n.77-2057G>T) | |
16 | g.51139609C>G | CA395884307 | SALL1 | c.2613G>C (p.Lys871Asn) c.2322G>C (p.Lys774Asn) c.77-2057G>C (n.77-2057G>C) | |
16 | g.51139609C>T | CA495780313 | SALL1 | c.2613G>A (p.Lys871=) c.2322G>A (p.Lys774=) c.77-2057G>A (n.77-2057G>A) | |
16 | g.51139610T>A | CA395884312 | SALL1 | c.2612A>T (p.Lys871Met) c.2321A>T (p.Lys774Met) c.77-2058A>T (n.77-2058A>T) | |
16 | g.51139610T>C | CA395884310 | SALL1 | c.2612A>G (p.Lys871Arg) c.2321A>G (p.Lys774Arg) c.77-2058A>G (n.77-2058A>G) | |
16 | g.51139610T>G | CA395884309 | SALL1 | c.2612A>C (p.Lys871Thr) c.2321A>C (p.Lys774Thr) c.77-2058A>C (n.77-2058A>C) | |
16 | g.51139611dup | CA2839102701 | SALL1 | c.2612dup (p.Met872AspfsTer30) c.2321dup (p.Met775AspfsTer30) c.77-2058dup (n.77-2058dup) | |
16 | g.51139611T>A | CA395884314 | SALL1 | c.2611A>T (p.Lys871Ter) c.2320A>T (p.Lys774Ter) c.77-2059A>T (n.77-2059A>T) | |
16 | g.51139611T>C | CA395884315 | SALL1 | c.2611A>G (p.Lys871Glu) c.2320A>G (p.Lys774Glu) c.77-2059A>G (n.77-2059A>G) | |
16 | g.51139611T>G | CA395884317 | SALL1 | c.2611A>C (p.Lys871Gln) c.2320A>C (p.Lys774Gln) c.77-2059A>C (n.77-2059A>C) | gnomAD v4 |
16 | g.51139612C>A | CA395884319 | SALL1 | c.2610G>T (p.Met870Ile) c.2319G>T (p.Met773Ile) c.77-2060G>T (n.77-2060G>T) | |
16 | g.51139612C>G | CA395884321 | SALL1 | c.2610G>C (p.Met870Ile) c.2319G>C (p.Met773Ile) c.77-2060G>C (n.77-2060G>C) | |
16 | g.51139612C>T | CA395884322 | SALL1 | c.2610G>A (p.Met870Ile) c.2319G>A (p.Met773Ile) c.77-2060G>A (n.77-2060G>A) | |
16 | g.51139613A>C | CA395884327 | SALL1 | c.2609T>G (p.Met870Arg) c.2318T>G (p.Met773Arg) c.77-2061T>G (n.77-2061T>G) | |
16 | g.51139613A>G | CA395884324 | SALL1 | c.2609T>C (p.Met870Thr) c.2318T>C (p.Met773Thr) c.77-2061T>C (n.77-2061T>C) | |
16 | g.51139613A>T | CA395884326 | SALL1 | c.2609T>A (p.Met870Lys) c.2318T>A (p.Met773Lys) c.77-2061T>A (n.77-2061T>A) | |
16 | g.51139614T>A | CA395884329 | SALL1 | c.2608A>T (p.Met870Leu) c.2317A>T (p.Met773Leu) c.77-2062A>T (n.77-2062A>T) | |
16 | g.51139614T>C | CA395884330 | SALL1 | c.2608A>G (p.Met870Val) c.2317A>G (p.Met773Val) c.77-2062A>G (n.77-2062A>G) | |
16 | g.51139614T>G | CA395884331 | SALL1 | c.2608A>C (p.Met870Leu) c.2317A>C (p.Met773Leu) c.77-2062A>C (n.77-2062A>C) | |
16 | g.51139615C>A | CA8053067 | SALL1 | c.2607G>T (p.Gln869His) c.2316G>T (p.Gln772His) c.77-2063G>T (n.77-2063G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139615C= | CA2222018346 | SALL1 | c.2607G= (p.Gln869=) c.2316G= (p.Gln772=) c.77-2063G= (n.77-2063G=) | |
16 | g.51139615C>G | CA395884332 | SALL1 | c.2607G>C (p.Gln869His) c.2316G>C (p.Gln772His) c.77-2063G>C (n.77-2063G>C) | gnomAD v4 |
16 | g.51139615C>T | CA495780314 | SALL1 | c.2607G>A (p.Gln869=) c.2316G>A (p.Gln772=) c.77-2063G>A (n.77-2063G>A) | gnomAD v4 |
16 | g.51139616T>A | CA395884334 | SALL1 | c.2606A>T (p.Gln869Leu) c.2315A>T (p.Gln772Leu) c.77-2064A>T (n.77-2064A>T) | |
16 | g.51139616T>C | CA395884336 | SALL1 | c.2606A>G (p.Gln869Arg) c.2315A>G (p.Gln772Arg) c.77-2064A>G (n.77-2064A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139616T>G | CA395884337 | SALL1 | c.2606A>C (p.Gln869Pro) c.2315A>C (p.Gln772Pro) c.77-2064A>C (n.77-2064A>C) | |
16 | g.51139616T= | CA2222018349 | SALL1 | c.2606A= (p.Gln869=) c.2315A= (p.Gln772=) c.77-2064A= (n.77-2064A=) | |
16 | g.51139617G>A | CA395884339 | SALL1 | c.2605C>T (p.Gln869Ter) c.2314C>T (p.Gln772Ter) c.77-2065C>T (n.77-2065C>T) | |
16 | g.51139617G>C | CA395884340 | SALL1 | c.2605C>G (p.Gln869Glu) c.2314C>G (p.Gln772Glu) c.77-2065C>G (n.77-2065C>G) | ClinVar |
16 | g.51139617G>T | CA395884342 | SALL1 | c.2605C>A (p.Gln869Lys) c.2314C>A (p.Gln772Lys) c.77-2065C>A (n.77-2065C>A) | |
16 | g.51139618A>C | CA395884343 | SALL1 | c.2604T>G (p.Asn868Lys) c.2313T>G (p.Asn771Lys) c.77-2066T>G (n.77-2066T>G) | |
16 | g.51139618A>G | CA495780315 | SALL1 | c.2604T>C (p.Asn868=) c.2313T>C (p.Asn771=) c.77-2066T>C (n.77-2066T>C) | |
16 | g.51139618A>T | CA395884345 | SALL1 | c.2604T>A (p.Asn868Lys) c.2313T>A (p.Asn771Lys) c.77-2066T>A (n.77-2066T>A) | |
16 | g.51139619T>A | CA395884347 | SALL1 | c.2603A>T (p.Asn868Ile) c.2312A>T (p.Asn771Ile) c.77-2067A>T (n.77-2067A>T) | |
16 | g.51139619T>C | CA395884349 | SALL1 | c.2603A>G (p.Asn868Ser) c.2312A>G (p.Asn771Ser) c.77-2067A>G (n.77-2067A>G) | |
16 | g.51139619T>G | CA395884348 | SALL1 | c.2603A>C (p.Asn868Thr) c.2312A>C (p.Asn771Thr) c.77-2067A>C (n.77-2067A>C) | |
16 | g.51139620T>A | CA395884350 | SALL1 | c.2602A>T (p.Asn868Tyr) c.2311A>T (p.Asn771Tyr) c.77-2068A>T (n.77-2068A>T) | |
16 | g.51139620T>C | CA395884352 | SALL1 | c.2602A>G (p.Asn868Asp) c.2311A>G (p.Asn771Asp) c.77-2068A>G (n.77-2068A>G) | dbSNP |
16 | g.51139620T>G | CA395884354 | SALL1 | c.2602A>C (p.Asn868His) c.2311A>C (p.Asn771His) c.77-2068A>C (n.77-2068A>C) | |
16 | g.51139620T= | CA2222018351 | SALL1 | c.2602A= (p.Asn868=) c.2311A= (p.Asn771=) c.77-2068A= (n.77-2068A=) | |
16 | g.51139621T>A | CA395884356 | SALL1 | c.2601A>T (p.Glu867Asp) c.2310A>T (p.Glu770Asp) c.77-2069A>T (n.77-2069A>T) | |
16 | g.51139621T>C | CA495780316 | SALL1 | c.2601A>G (p.Glu867=) c.2310A>G (p.Glu770=) c.77-2069A>G (n.77-2069A>G) | |
16 | g.51139621T>G | CA395884357 | SALL1 | c.2601A>C (p.Glu867Asp) c.2310A>C (p.Glu770Asp) c.77-2069A>C (n.77-2069A>C) | |
16 | g.51139622T>A | CA395884359 | SALL1 | c.2600A>T (p.Glu867Val) c.2309A>T (p.Glu770Val) c.77-2070A>T (n.77-2070A>T) | |
16 | g.51139622T>C | CA395884360 | SALL1 | c.2600A>G (p.Glu867Gly) c.2309A>G (p.Glu770Gly) c.77-2070A>G (n.77-2070A>G) | gnomAD v4 |
16 | g.51139622T>G | CA395884362 | SALL1 | c.2600A>C (p.Glu867Ala) c.2309A>C (p.Glu770Ala) c.77-2070A>C (n.77-2070A>C) | |
16 | g.51139623C>A | CA395884364 | SALL1 | c.2599G>T (p.Glu867Ter) c.2308G>T (p.Glu770Ter) c.77-2071G>T (n.77-2071G>T) | |
16 | g.51139623C>G | CA395884365 | SALL1 | c.2599G>C (p.Glu867Gln) c.2308G>C (p.Glu770Gln) c.77-2071G>C (n.77-2071G>C) | |
16 | g.51139623C>T | CA395884367 | SALL1 | c.2599G>A (p.Glu867Lys) c.2308G>A (p.Glu770Lys) c.77-2071G>A (n.77-2071G>A) | |
16 | g.51139624C>A | CA395884368 | SALL1 | c.2598G>T (p.Leu866Phe) c.2307G>T (p.Leu769Phe) c.77-2072G>T (n.77-2072G>T) | |
16 | g.51139624C>G | CA395884370 | SALL1 | c.2598G>C (p.Leu866Phe) c.2307G>C (p.Leu769Phe) c.77-2072G>C (n.77-2072G>C) | |
16 | g.51139624C>T | CA495780317 | SALL1 | c.2598G>A (p.Leu866=) c.2307G>A (p.Leu769=) c.77-2072G>A (n.77-2072G>A) | COSMIC |
16 | g.51139625A= | CA2222018354 | SALL1 | c.2597T= (p.Leu866=) c.2306T= (p.Leu769=) c.77-2073T= (n.77-2073T=) | |
16 | g.51139625A>C | CA395884375 | SALL1 | c.2597T>G (p.Leu866Trp) c.2306T>G (p.Leu769Trp) c.77-2073T>G (n.77-2073T>G) | |
16 | g.51139625A>G | CA395884372 | SALL1 | c.2597T>C (p.Leu866Ser) c.2306T>C (p.Leu769Ser) c.77-2073T>C (n.77-2073T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139625A>T | CA395884373 | SALL1 | c.2597T>A (p.Leu866Ter) c.2306T>A (p.Leu769Ter) c.77-2073T>A (n.77-2073T>A) | |
16 | g.51139626A>C | CA395884377 | SALL1 | c.2596T>G (p.Leu866Val) c.2305T>G (p.Leu769Val) c.77-2074T>G (n.77-2074T>G) | |
16 | g.51139626A>G | CA495780318 | SALL1 | c.2596T>C (p.Leu866=) c.2305T>C (p.Leu769=) c.77-2074T>C (n.77-2074T>C) | |
16 | g.51139626A>T | CA395884379 | SALL1 | c.2596T>A (p.Leu866Met) c.2305T>A (p.Leu769Met) c.77-2074T>A (n.77-2074T>A) | |
16 | g.51139627A= | CA2222018358 | SALL1 | c.2595T= (p.Ala865=) c.2304T= (p.Ala768=) c.77-2075T= (n.77-2075T=) | |
16 | g.51139627A>C | CA495780319 | SALL1 | c.2595T>G (p.Ala865=) c.2304T>G (p.Ala768=) c.77-2075T>G (n.77-2075T>G) | |
16 | g.51139627A>G | CA495780320 | SALL1 | c.2595T>C (p.Ala865=) c.2304T>C (p.Ala768=) c.77-2075T>C (n.77-2075T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139627A>T | CA495780321 | SALL1 | c.2595T>A (p.Ala865=) c.2304T>A (p.Ala768=) c.77-2075T>A (n.77-2075T>A) | |
16 | g.51139628G>A | CA395884380 | SALL1 | c.2594C>T (p.Ala865Val) c.2303C>T (p.Ala768Val) c.77-2076C>T (n.77-2076C>T) | |
16 | g.51139628G>C | CA395884381 | SALL1 | c.2594C>G (p.Ala865Gly) c.2303C>G (p.Ala768Gly) c.77-2076C>G (n.77-2076C>G) | |
16 | g.51139628G>T | CA395884383 | SALL1 | c.2594C>A (p.Ala865Asp) c.2303C>A (p.Ala768Asp) c.77-2076C>A (n.77-2076C>A) | |
16 | g.51139629C>A | CA395884385 | SALL1 | c.2593G>T (p.Ala865Ser) c.2302G>T (p.Ala768Ser) c.77-2077G>T (n.77-2077G>T) | |
16 | g.51139629C= | CA2222018363 | SALL1 | c.2593G= (p.Ala865=) c.2302G= (p.Ala768=) c.77-2077G= (n.77-2077G=) | |
16 | g.51139629C>G | CA395884386 | SALL1 | c.2593G>C (p.Ala865Pro) c.2302G>C (p.Ala768Pro) c.77-2077G>C (n.77-2077G>C) | dbSNP gnomAD v2 |
16 | g.51139629C>T | CA395884387 | SALL1 | c.2593G>A (p.Ala865Thr) c.2302G>A (p.Ala768Thr) c.77-2077G>A (n.77-2077G>A) | |
16 | g.51139630A= | CA2222018369 | SALL1 | c.2592T= (p.Ala864=) c.2301T= (p.Ala767=) c.77-2078T= (n.77-2078T=) | |
16 | g.51139630A>C | CA495780322 | SALL1 | c.2592T>G (p.Ala864=) c.2301T>G (p.Ala767=) c.77-2078T>G (n.77-2078T>G) | |
16 | g.51139630A>G | CA495780323 | SALL1 | c.2592T>C (p.Ala864=) c.2301T>C (p.Ala767=) c.77-2078T>C (n.77-2078T>C) | dbSNP COSMIC |
16 | g.51139630A>T | CA495780324 | SALL1 | c.2592T>A (p.Ala864=) c.2301T>A (p.Ala767=) c.77-2078T>A (n.77-2078T>A) | |
16 | g.51139631G>A | CA395884389 | SALL1 | c.2591C>T (p.Ala864Val) c.2300C>T (p.Ala767Val) c.77-2079C>T (n.77-2079C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139631G>C | CA395884390 | SALL1 | c.2591C>G (p.Ala864Gly) c.2300C>G (p.Ala767Gly) c.77-2079C>G (n.77-2079C>G) | |
16 | g.51139631G= | CA2222018370 | SALL1 | c.2591C= (p.Ala864=) c.2300C= (p.Ala767=) c.77-2079C= (n.77-2079C=) | |
16 | g.51139631G>T | CA395884392 | SALL1 | c.2591C>A (p.Ala864Asp) c.2300C>A (p.Ala767Asp) c.77-2079C>A (n.77-2079C>A) | |
16 | g.51139632C>A | CA8053069 | SALL1 | c.2590G>T (p.Ala864Ser) c.2299G>T (p.Ala767Ser) c.77-2080G>T (n.77-2080G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139632C= | CA2222018373 | SALL1 | c.2590G= (p.Ala864=) c.2299G= (p.Ala767=) c.77-2080G= (n.77-2080G=) | |
16 | g.51139632C>G | CA395884394 | SALL1 | c.2590G>C (p.Ala864Pro) c.2299G>C (p.Ala767Pro) c.77-2080G>C (n.77-2080G>C) | |
16 | g.51139632C>T | CA8053068 | SALL1 | c.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 |
16 | g.51139633G>A | CA8053070 | SALL1 | c.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 |
16 | g.51139633G>C | CA395884398 | SALL1 | c.2589C>G (p.Ile863Met) c.2298C>G (p.Ile766Met) c.77-2081C>G (n.77-2081C>G) | |
16 | g.51139633G= | CA2222018389 | SALL1 | c.2589C= (p.Ile863=) c.2298C= (p.Ile766=) c.77-2081C= (n.77-2081C=) | |
16 | g.51139633G>T | CA495780325 | SALL1 | c.2589C>A (p.Ile863=) c.2298C>A (p.Ile766=) c.77-2081C>A (n.77-2081C>A) | |
16 | g.51139634A>C | CA395884400 | SALL1 | c.2588T>G (p.Ile863Ser) c.2297T>G (p.Ile766Ser) c.77-2082T>G (n.77-2082T>G) | |
16 | g.51139634A>G | CA395884402 | SALL1 | c.2588T>C (p.Ile863Thr) c.2297T>C (p.Ile766Thr) c.77-2082T>C (n.77-2082T>C) | |
16 | g.51139634A>T | CA395884403 | SALL1 | c.2588T>A (p.Ile863Asn) c.2297T>A (p.Ile766Asn) c.77-2082T>A (n.77-2082T>A) | |
16 | g.51139635T>A | CA395884405 | SALL1 | c.2587A>T (p.Ile863Phe) c.2296A>T (p.Ile766Phe) c.77-2083A>T (n.77-2083A>T) | |
16 | g.51139635T>C | CA395884406 | SALL1 | c.2587A>G (p.Ile863Val) c.2296A>G (p.Ile766Val) c.77-2083A>G (n.77-2083A>G) | |
16 | g.51139635T>G | CA395884407 | SALL1 | c.2587A>C (p.Ile863Leu) c.2296A>C (p.Ile766Leu) c.77-2083A>C (n.77-2083A>C) | |
16 | g.51139636G>A | CA495780326 | SALL1 | c.2586C>T (p.Ser862=) c.2295C>T (p.Ser765=) c.77-2084C>T (n.77-2084C>T) | dbSNP |
16 | g.51139636G>C | CA395884409 | SALL1 | c.2586C>G (p.Ser862Arg) c.2295C>G (p.Ser765Arg) c.77-2084C>G (n.77-2084C>G) | |
16 | g.51139636G= | CA2222018398 | SALL1 | c.2586C= (p.Ser862=) c.2295C= (p.Ser765=) c.77-2084C= (n.77-2084C=) | |
16 | g.51139636G>T | CA395884411 | SALL1 | c.2586C>A (p.Ser862Arg) c.2295C>A (p.Ser765Arg) c.77-2084C>A (n.77-2084C>A) | |
16 | g.51139637C>A | CA395884413 | SALL1 | c.2585G>T (p.Ser862Ile) c.2294G>T (p.Ser765Ile) c.77-2085G>T (n.77-2085G>T) | |
16 | g.51139637C= | CA2222018402 | SALL1 | c.2585G= (p.Ser862=) c.2294G= (p.Ser765=) c.77-2085G= (n.77-2085G=) | |
16 | g.51139637C>G | CA395884414 | SALL1 | c.2585G>C (p.Ser862Thr) c.2294G>C (p.Ser765Thr) c.77-2085G>C (n.77-2085G>C) | |
16 | g.51139637C>T | CA395884416 | SALL1 | c.2585G>A (p.Ser862Asn) c.2294G>A (p.Ser765Asn) c.77-2085G>A (n.77-2085G>A) | dbSNP COSMIC |
16 | g.51139638T>A | CA8053071 | SALL1 | c.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 |
16 | g.51139638T>C | CA395884419 | SALL1 | c.2584A>G (p.Ser862Gly) c.2293A>G (p.Ser765Gly) c.77-2086A>G (n.77-2086A>G) | |
16 | g.51139638T>G | CA395884418 | SALL1 | c.2584A>C (p.Ser862Arg) c.2293A>C (p.Ser765Arg) c.77-2086A>C (n.77-2086A>C) | |
16 | g.51139638T= | CA2222018404 | SALL1 | c.2584A= (p.Ser862=) c.2293A= (p.Ser765=) c.77-2086A= (n.77-2086A=) | |
16 | g.51139639C>A | CA495780327 | SALL1 | c.2583G>T (p.Ser861=) c.2292G>T (p.Ser764=) c.77-2087G>T (n.77-2087G>T) | |
16 | g.51139639C= | CA2222018406 | SALL1 | c.2583G= (p.Ser861=) c.2292G= (p.Ser764=) c.77-2087G= (n.77-2087G=) | |
16 | g.51139639C>G | CA495780328 | SALL1 | c.2583G>C (p.Ser861=) c.2292G>C (p.Ser764=) c.77-2087G>C (n.77-2087G>C) | gnomAD v4 |
16 | g.51139639C>T | CA8053072 | SALL1 | c.2583G>A (p.Ser861=) c.2292G>A (p.Ser764=) c.77-2087G>A (n.77-2087G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139640G>A | CA8053073 | SALL1 | c.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 |
16 | g.51139640G>C | CA8053074 | SALL1 | c.2582C>G (p.Ser861Trp) c.2291C>G (p.Ser764Trp) c.77-2088C>G (n.77-2088C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139640G= | CA2222018408 | SALL1 | c.2582C= (p.Ser861=) c.2291C= (p.Ser764=) c.77-2088C= (n.77-2088C=) | |
16 | g.51139640G>T | CA395884422 | SALL1 | c.2582C>A (p.Ser861Ter) c.2291C>A (p.Ser764Ter) c.77-2088C>A (n.77-2088C>A) | |
16 | g.51139641A>C | CA395884424 | SALL1 | c.2581T>G (p.Ser861Ala) c.2290T>G (p.Ser764Ala) c.77-2089T>G (n.77-2089T>G) | |
16 | g.51139641A>G | CA395884426 | SALL1 | c.2581T>C (p.Ser861Pro) c.2290T>C (p.Ser764Pro) c.77-2089T>C (n.77-2089T>C) | |
16 | g.51139641A>T | CA395884427 | SALL1 | c.2581T>A (p.Ser861Thr) c.2290T>A (p.Ser764Thr) c.77-2089T>A (n.77-2089T>A) | |
16 | g.51139642C>A | CA395884429 | SALL1 | c.2580G>T (p.Met860Ile) c.2289G>T (p.Met763Ile) c.77-2090G>T (n.77-2090G>T) | |
16 | g.51139642C>G | CA395884430 | SALL1 | c.2580G>C (p.Met860Ile) c.2289G>C (p.Met763Ile) c.77-2090G>C (n.77-2090G>C) | |
16 | g.51139642C>T | CA395884432 | SALL1 | c.2580G>A (p.Met860Ile) c.2289G>A (p.Met763Ile) c.77-2090G>A (n.77-2090G>A) | gnomAD v4 |
16 | g.51139643A>C | CA395884433 | SALL1 | c.2579T>G (p.Met860Arg) c.2288T>G (p.Met763Arg) c.77-2091T>G (n.77-2091T>G) | |
16 | g.51139643A>G | CA395884435 | SALL1 | c.2579T>C (p.Met860Thr) c.2288T>C (p.Met763Thr) c.77-2091T>C (n.77-2091T>C) | gnomAD v4 |
16 | g.51139643A>T | CA395884436 | SALL1 | c.2579T>A (p.Met860Lys) c.2288T>A (p.Met763Lys) c.77-2091T>A (n.77-2091T>A) | |
16 | g.51139644T>A | CA395884441 | SALL1 | c.2578A>T (p.Met860Leu) c.2287A>T (p.Met763Leu) c.77-2092A>T (n.77-2092A>T) | |
16 | g.51139644T>C | CA395884440 | SALL1 | c.2578A>G (p.Met860Val) c.2287A>G (p.Met763Val) c.77-2092A>G (n.77-2092A>G) | |
16 | g.51139644T>G | CA395884438 | SALL1 | c.2578A>C (p.Met860Leu) c.2287A>C (p.Met763Leu) c.77-2092A>C (n.77-2092A>C) | |
16 | g.51139645C>A | CA395884444 | SALL1 | c.2577G>T (p.Glu859Asp) c.2286G>T (p.Glu762Asp) c.77-2093G>T (n.77-2093G>T) | |
16 | g.51139645C>G | CA395884443 | SALL1 | c.2577G>C (p.Glu859Asp) c.2286G>C (p.Glu762Asp) c.77-2093G>C (n.77-2093G>C) | COSMIC |
16 | g.51139645C>T | CA495780329 | SALL1 | c.2577G>A (p.Glu859=) c.2286G>A (p.Glu762=) c.77-2093G>A (n.77-2093G>A) | gnomAD v4 |
16 | g.51139646T>A | CA395884446 | SALL1 | c.2576A>T (p.Glu859Val) c.2285A>T (p.Glu762Val) c.77-2094A>T (n.77-2094A>T) | |
16 | g.51139646T>C | CA395884448 | SALL1 | c.2576A>G (p.Glu859Gly) c.2285A>G (p.Glu762Gly) c.77-2094A>G (n.77-2094A>G) | |
16 | g.51139646T>G | CA395884449 | SALL1 | c.2576A>C (p.Glu859Ala) c.2285A>C (p.Glu762Ala) c.77-2094A>C (n.77-2094A>C) | |
16 | g.51139647C>A | CA395884451 | SALL1 | c.2575G>T (p.Glu859Ter) c.2284G>T (p.Glu762Ter) c.77-2095G>T (n.77-2095G>T) | |
16 | g.51139647C= | CA2222018410 | SALL1 | c.2575G= (p.Glu859=) c.2284G= (p.Glu762=) c.77-2095G= (n.77-2095G=) | |
16 | g.51139647C>G | CA395884452 | SALL1 | c.2575G>C (p.Glu859Gln) c.2284G>C (p.Glu762Gln) c.77-2095G>C (n.77-2095G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139647C>T | CA281301223 | SALL1 | c.2575G>A (p.Glu859Lys) c.2284G>A (p.Glu762Lys) c.77-2095G>A (n.77-2095G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139648G>A | CA8053075 | SALL1 | c.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 |
16 | g.51139648G>C | CA495780330 | SALL1 | c.2574C>G (p.Leu858=) c.2283C>G (p.Leu761=) c.77-2096C>G (n.77-2096C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139648G= | CA2222018416 | SALL1 | c.2574C= (p.Leu858=) c.2283C= (p.Leu761=) c.77-2096C= (n.77-2096C=) | |
16 | g.51139648G>T | CA8053076 | SALL1 | c.2574C>A (p.Leu858=) c.2283C>A (p.Leu761=) c.77-2096C>A (n.77-2096C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139648_51139649delinsTT | CA2499223540 | SALL1 | c.2573_2574delinsAA (p.Leu858Gln) c.2282_2283delinsAA (p.Leu761Gln) c.77-2097_77-2096delinsAA (n.77-2097_77-2096delinsAA) | ClinVar dbSNP |
16 | g.51139649A= | CA2222018422 | SALL1 | c.2573T= (p.Leu858=) c.2282T= (p.Leu761=) c.77-2097T= (n.77-2097T=) | |
16 | g.51139649A>C | CA395884456 | SALL1 | c.2573T>G (p.Leu858Arg) c.2282T>G (p.Leu761Arg) c.77-2097T>G (n.77-2097T>G) | |
16 | g.51139649A>G | CA395884457 | SALL1 | c.2573T>C (p.Leu858Pro) c.2282T>C (p.Leu761Pro) c.77-2097T>C (n.77-2097T>C) | |
16 | g.51139649A>T | CA8053077 | SALL1 | c.2573T>A (p.Leu858His) c.2282T>A (p.Leu761His) c.77-2097T>A (n.77-2097T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139650G>A | CA395884462 | SALL1 | c.2572C>T (p.Leu858Phe) c.2281C>T (p.Leu761Phe) c.77-2098C>T (n.77-2098C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.51139650G>C | CA395884463 | SALL1 | c.2572C>G (p.Leu858Val) c.2281C>G (p.Leu761Val) c.77-2098C>G (n.77-2098C>G) | |
16 | g.51139650G= | CA2222018425 | SALL1 | c.2572C= (p.Leu858=) c.2281C= (p.Leu761=) c.77-2098C= (n.77-2098C=) | |
16 | g.51139650G>T | CA395884460 | SALL1 | c.2572C>A (p.Leu858Ile) c.2281C>A (p.Leu761Ile) c.77-2098C>A (n.77-2098C>A) | |
16 | g.51139652_51139653del | CA2841550739 | SALL1 | c.2571_2572del (p.Leu858ArgfsTer?) c.2280_2281del (p.Leu761ArgfsTer?) c.77-2099_77-2098del (n.77-2099_77-2098del) | |
16 | g.51139651G>A | CA495780331 | SALL1 | c.2571C>T (p.Pro857=) c.2280C>T (p.Pro760=) c.77-2099C>T (n.77-2099C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139651G>C | CA495780332 | SALL1 | c.2571C>G (p.Pro857=) c.2280C>G (p.Pro760=) c.77-2099C>G (n.77-2099C>G) | gnomAD v4 |
16 | g.51139651G= | CA2222018427 | SALL1 | c.2571C= (p.Pro857=) c.2280C= (p.Pro760=) c.77-2099C= (n.77-2099C=) | |
16 | g.51139651G>T | CA495780333 | SALL1 | c.2571C>A (p.Pro857=) c.2280C>A (p.Pro760=) c.77-2099C>A (n.77-2099C>A) | |
16 | g.51139652G>A | CA395884465 | SALL1 | c.2570C>T (p.Pro857Leu) c.2279C>T (p.Pro760Leu) c.77-2100C>T (n.77-2100C>T) | |
16 | g.51139652G>C | CA395884467 | SALL1 | c.2570C>G (p.Pro857Arg) c.2279C>G (p.Pro760Arg) c.77-2100C>G (n.77-2100C>G) | |
16 | g.51139652G>T | CA395884468 | SALL1 | c.2570C>A (p.Pro857His) c.2279C>A (p.Pro760His) c.77-2100C>A (n.77-2100C>A) | |
16 | g.51139653G>A | CA395884469 | SALL1 | c.2569C>T (p.Pro857Ser) c.2278C>T (p.Pro760Ser) c.77-2101C>T (n.77-2101C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139653G>C | CA395884470 | SALL1 | c.2569C>G (p.Pro857Ala) c.2278C>G (p.Pro760Ala) c.77-2101C>G (n.77-2101C>G) | |
16 | g.51139653G= | CA2222018429 | SALL1 | c.2569C= (p.Pro857=) c.2278C= (p.Pro760=) c.77-2101C= (n.77-2101C=) | |
16 | g.51139653G>T | CA395884473 | SALL1 | c.2569C>A (p.Pro857Thr) c.2278C>A (p.Pro760Thr) c.77-2101C>A (n.77-2101C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139654C>A | CA395884474 | SALL1 | c.2568G>T (p.Leu856Phe) c.2277G>T (p.Leu759Phe) c.77-2102G>T (n.77-2102G>T) | |
16 | g.51139654C>G | CA395884476 | SALL1 | c.2568G>C (p.Leu856Phe) c.2277G>C (p.Leu759Phe) c.77-2102G>C (n.77-2102G>C) | |
16 | g.51139654C>T | CA495780334 | SALL1 | c.2568G>A (p.Leu856=) c.2277G>A (p.Leu759=) c.77-2102G>A (n.77-2102G>A) | |
16 | g.51139655A>C | CA395884478 | SALL1 | c.2567T>G (p.Leu856Trp) c.2276T>G (p.Leu759Trp) c.77-2103T>G (n.77-2103T>G) | |
16 | g.51139655A>G | CA395884479 | SALL1 | c.2567T>C (p.Leu856Ser) c.2276T>C (p.Leu759Ser) c.77-2103T>C (n.77-2103T>C) | |
16 | g.51139655A>T | CA395884481 | SALL1 | c.2567T>A (p.Leu856Ter) c.2276T>A (p.Leu759Ter) c.77-2103T>A (n.77-2103T>A) | |
16 | g.51139656A>C | CA395884482 | SALL1 | c.2566T>G (p.Leu856Val) c.2275T>G (p.Leu759Val) c.77-2104T>G (n.77-2104T>G) | |
16 | g.51139656A>G | CA495780335 | SALL1 | c.2566T>C (p.Leu856=) c.2275T>C (p.Leu759=) c.77-2104T>C (n.77-2104T>C) | |
16 | g.51139656A>T | CA395884484 | SALL1 | c.2566T>A (p.Leu856Met) c.2275T>A (p.Leu759Met) c.77-2104T>A (n.77-2104T>A) |