Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51139278_51139307dup | CA622654492 | SALL1 | c.2915_2944dup (p.Ile981_Lys982insMetThrSerSerHisAlaGluLysIleIle) c.2624_2653dup (p.Ile884_Lys885insMetThrSerSerHisAlaGluLysIleIle) c.77-1755_77-1726dup (n.77-1755_77-1726dup) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139288C>A | CA395883127 | SALL1 | c.2934G>T (p.Glu978Asp) c.2643G>T (p.Glu881Asp) c.77-1736G>T (n.77-1736G>T) | |
16 | g.51139288C>G | CA395883129 | SALL1 | c.2934G>C (p.Glu978Asp) c.2643G>C (p.Glu881Asp) c.77-1736G>C (n.77-1736G>C) | gnomAD v4 |
16 | g.51139288C>T | CA495780191 | SALL1 | c.2934G>A (p.Glu978=) c.2643G>A (p.Glu881=) c.77-1736G>A (n.77-1736G>A) | |
16 | g.51139289T>A | CA395883134 | SALL1 | c.2933A>T (p.Glu978Val) c.2642A>T (p.Glu881Val) c.77-1737A>T (n.77-1737A>T) | |
16 | g.51139289T>C | CA395883137 | SALL1 | c.2933A>G (p.Glu978Gly) c.2642A>G (p.Glu881Gly) c.77-1737A>G (n.77-1737A>G) | |
16 | g.51139289T>G | CA395883132 | SALL1 | c.2933A>C (p.Glu978Ala) c.2642A>C (p.Glu881Ala) c.77-1737A>C (n.77-1737A>C) | |
16 | g.51139290C>A | CA395883140 | SALL1 | c.2932G>T (p.Glu978Ter) c.2641G>T (p.Glu881Ter) c.77-1738G>T (n.77-1738G>T) | |
16 | g.51139290C>G | CA395883143 | SALL1 | c.2932G>C (p.Glu978Gln) c.2641G>C (p.Glu881Gln) c.77-1738G>C (n.77-1738G>C) | |
16 | g.51139290C>T | CA395883147 | SALL1 | c.2932G>A (p.Glu978Lys) c.2641G>A (p.Glu881Lys) c.77-1738G>A (n.77-1738G>A) | |
16 | g.51139291T>A | CA495780195 | SALL1 | c.2931A>T (p.Ala977=) c.2640A>T (p.Ala880=) c.77-1739A>T (n.77-1739A>T) | |
16 | g.51139291T>C | CA495780196 | SALL1 | c.2931A>G (p.Ala977=) c.2640A>G (p.Ala880=) c.77-1739A>G (n.77-1739A>G) | |
16 | g.51139291T>G | CA495780197 | SALL1 | c.2931A>C (p.Ala977=) c.2640A>C (p.Ala880=) c.77-1739A>C (n.77-1739A>C) | |
16 | g.51139292G>A | CA395883150 | SALL1 | c.2930C>T (p.Ala977Val) c.2639C>T (p.Ala880Val) c.77-1740C>T (n.77-1740C>T) | |
16 | g.51139292G>C | CA395883152 | SALL1 | c.2930C>G (p.Ala977Gly) c.2639C>G (p.Ala880Gly) c.77-1740C>G (n.77-1740C>G) | |
16 | g.51139292G>T | CA395883155 | SALL1 | c.2930C>A (p.Ala977Glu) c.2639C>A (p.Ala880Glu) c.77-1740C>A (n.77-1740C>A) | |
16 | g.51139293C>A | CA395883160 | SALL1 | c.2929G>T (p.Ala977Ser) c.2638G>T (p.Ala880Ser) c.77-1741G>T (n.77-1741G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139293C= | CA2222017717 | SALL1 | c.2929G= (p.Ala977=) c.2638G= (p.Ala880=) c.77-1741G= (n.77-1741G=) | |
16 | g.51139293C>G | CA395883163 | SALL1 | c.2929G>C (p.Ala977Pro) c.2638G>C (p.Ala880Pro) c.77-1741G>C (n.77-1741G>C) | |
16 | g.51139293C>T | CA8053013 | SALL1 | c.2929G>A (p.Ala977Thr) c.2638G>A (p.Ala880Thr) c.77-1741G>A (n.77-1741G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139294G>A | CA8053014 | SALL1 | c.2928C>T (p.His976=) c.2637C>T (p.His879=) c.77-1742C>T (n.77-1742C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139294G>C | CA395883169 | SALL1 | c.2928C>G (p.His976Gln) c.2637C>G (p.His879Gln) c.77-1742C>G (n.77-1742C>G) | gnomAD v4 |
16 | g.51139294G= | CA2222017722 | SALL1 | c.2928C= (p.His976=) c.2637C= (p.His879=) c.77-1742C= (n.77-1742C=) | |
16 | g.51139294G>T | CA395883176 | SALL1 | c.2928C>A (p.His976Gln) c.2637C>A (p.His879Gln) c.77-1742C>A (n.77-1742C>A) | |
16 | g.51139295T>A | CA395883181 | SALL1 | c.2927A>T (p.His976Leu) c.2636A>T (p.His879Leu) c.77-1743A>T (n.77-1743A>T) | |
16 | g.51139295T>C | CA395883185 | SALL1 | c.2927A>G (p.His976Arg) c.2636A>G (p.His879Arg) c.77-1743A>G (n.77-1743A>G) | |
16 | g.51139295T>G | CA395883178 | SALL1 | c.2927A>C (p.His976Pro) c.2636A>C (p.His879Pro) c.77-1743A>C (n.77-1743A>C) | gnomAD v4 COSMIC |
16 | g.51139296G>A | CA395883189 | SALL1 | c.2926C>T (p.His976Tyr) c.2635C>T (p.His879Tyr) c.77-1744C>T (n.77-1744C>T) | |
16 | g.51139296G>C | CA395883190 | SALL1 | c.2926C>G (p.His976Asp) c.2635C>G (p.His879Asp) c.77-1744C>G (n.77-1744C>G) | |
16 | g.51139296G>T | CA395883195 | SALL1 | c.2926C>A (p.His976Asn) c.2635C>A (p.His879Asn) c.77-1744C>A (n.77-1744C>A) | |
16 | g.51139297A>C | CA395883197 | SALL1 | c.2925T>G (p.Ser975Arg) c.2634T>G (p.Ser878Arg) c.77-1745T>G (n.77-1745T>G) | |
16 | g.51139297A>G | CA495780204 | SALL1 | c.2925T>C (p.Ser975=) c.2634T>C (p.Ser878=) c.77-1745T>C (n.77-1745T>C) | |
16 | g.51139297A>T | CA395883199 | SALL1 | c.2925T>A (p.Ser975Arg) c.2634T>A (p.Ser878Arg) c.77-1745T>A (n.77-1745T>A) | |
16 | g.51139298C>A | CA395883211 | SALL1 | c.2924G>T (p.Ser975Ile) c.2633G>T (p.Ser878Ile) c.77-1746G>T (n.77-1746G>T) | |
16 | g.51139298C= | CA2222017725 | SALL1 | c.2924G= (p.Ser975=) c.2633G= (p.Ser878=) c.77-1746G= (n.77-1746G=) | |
16 | g.51139298C>G | CA395883206 | SALL1 | c.2924G>C (p.Ser975Thr) c.2633G>C (p.Ser878Thr) c.77-1746G>C (n.77-1746G>C) | |
16 | g.51139298C>T | CA8053015 | SALL1 | c.2924G>A (p.Ser975Asn) c.2633G>A (p.Ser878Asn) c.77-1746G>A (n.77-1746G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139299T>A | CA395883217 | SALL1 | c.2923A>T (p.Ser975Cys) c.2632A>T (p.Ser878Cys) c.77-1747A>T (n.77-1747A>T) | |
16 | g.51139299T>C | CA395883220 | SALL1 | c.2923A>G (p.Ser975Gly) c.2632A>G (p.Ser878Gly) c.77-1747A>G (n.77-1747A>G) | ClinVar gnomAD v4 |
16 | g.51139299T>G | CA395883223 | SALL1 | c.2923A>C (p.Ser975Arg) c.2632A>C (p.Ser878Arg) c.77-1747A>C (n.77-1747A>C) | gnomAD v4 |
16 | g.51139300A= | CA2222017728 | SALL1 | c.2922T= (p.Ser974=) c.2631T= (p.Ser877=) c.77-1748T= (n.77-1748T=) | |
16 | g.51139300A>C | CA495780210 | SALL1 | c.2922T>G (p.Ser974=) c.2631T>G (p.Ser877=) c.77-1748T>G (n.77-1748T>G) | gnomAD v4 |
16 | g.51139300A>G | CA495780211 | SALL1 | c.2922T>C (p.Ser974=) c.2631T>C (p.Ser877=) c.77-1748T>C (n.77-1748T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139300A>T | CA495780212 | SALL1 | c.2922T>A (p.Ser974=) c.2631T>A (p.Ser877=) c.77-1748T>A (n.77-1748T>A) | |
16 | g.51139301G>A | CA8053016 | SALL1 | c.2921C>T (p.Ser974Phe) c.2630C>T (p.Ser877Phe) c.77-1749C>T (n.77-1749C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139301G>C | CA395883225 | SALL1 | c.2921C>G (p.Ser974Cys) c.2630C>G (p.Ser877Cys) c.77-1749C>G (n.77-1749C>G) | gnomAD v4 |
16 | g.51139301G= | CA2222017732 | SALL1 | c.2921C= (p.Ser974=) c.2630C= (p.Ser877=) c.77-1749C= (n.77-1749C=) | |
16 | g.51139301G>T | CA395883233 | SALL1 | c.2921C>A (p.Ser974Tyr) c.2630C>A (p.Ser877Tyr) c.77-1749C>A (n.77-1749C>A) | |
16 | g.51139302A= | CA2222017736 | SALL1 | c.2920T= (p.Ser974=) c.2629T= (p.Ser877=) c.77-1750T= (n.77-1750T=) | |
16 | g.51139302A>C | CA395883239 | SALL1 | c.2920T>G (p.Ser974Ala) c.2629T>G (p.Ser877Ala) c.77-1750T>G (n.77-1750T>G) | dbSNP |
16 | g.51139302A>G | CA8053017 | SALL1 | c.2920T>C (p.Ser974Pro) c.2629T>C (p.Ser877Pro) c.77-1750T>C (n.77-1750T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139302A>T | CA395883236 | SALL1 | c.2920T>A (p.Ser974Thr) c.2629T>A (p.Ser877Thr) c.77-1750T>A (n.77-1750T>A) | |
16 | g.51139303T>A | CA495780216 | SALL1 | c.2919A>T (p.Thr973=) c.2628A>T (p.Thr876=) c.77-1751A>T (n.77-1751A>T) | gnomAD v4 |
16 | g.51139303T>C | CA495780218 | SALL1 | c.2919A>G (p.Thr973=) c.2628A>G (p.Thr876=) c.77-1751A>G (n.77-1751A>G) | |
16 | g.51139303T>G | CA495780219 | SALL1 | c.2919A>C (p.Thr973=) c.2628A>C (p.Thr876=) c.77-1751A>C (n.77-1751A>C) | |
16 | g.51139304G>A | CA395883252 | SALL1 | c.2918C>T (p.Thr973Ile) c.2627C>T (p.Thr876Ile) c.77-1752C>T (n.77-1752C>T) | |
16 | g.51139304G>C | CA395883247 | SALL1 | c.2918C>G (p.Thr973Arg) c.2627C>G (p.Thr876Arg) c.77-1752C>G (n.77-1752C>G) | |
16 | g.51139304G>T | CA395883250 | SALL1 | c.2918C>A (p.Thr973Lys) c.2627C>A (p.Thr876Lys) c.77-1752C>A (n.77-1752C>A) | gnomAD v4 |
16 | g.51139305T>A | CA395883255 | SALL1 | c.2917A>T (p.Thr973Ser) c.2626A>T (p.Thr876Ser) c.77-1753A>T (n.77-1753A>T) | |
16 | g.51139305T>C | CA395883257 | SALL1 | c.2917A>G (p.Thr973Ala) c.2626A>G (p.Thr876Ala) c.77-1753A>G (n.77-1753A>G) | |
16 | g.51139305T>G | CA395883260 | SALL1 | c.2917A>C (p.Thr973Pro) c.2626A>C (p.Thr876Pro) c.77-1753A>C (n.77-1753A>C) | |
16 | g.51139306C>A | CA395883264 | SALL1 | c.2916G>T (p.Leu972Phe) c.2625G>T (p.Leu875Phe) c.77-1754G>T (n.77-1754G>T) | gnomAD v4 |
16 | g.51139306C>G | CA395883270 | SALL1 | c.2916G>C (p.Leu972Phe) c.2625G>C (p.Leu875Phe) c.77-1754G>C (n.77-1754G>C) | |
16 | g.51139306C>T | CA495780223 | SALL1 | c.2916G>A (p.Leu972=) c.2625G>A (p.Leu875=) c.77-1754G>A (n.77-1754G>A) | |
16 | g.51139307A>C | CA395883272 | SALL1 | c.2915T>G (p.Leu972Trp) c.2624T>G (p.Leu875Trp) c.77-1755T>G (n.77-1755T>G) | |
16 | g.51139307A>G | CA395883274 | SALL1 | c.2915T>C (p.Leu972Ser) c.2624T>C (p.Leu875Ser) c.77-1755T>C (n.77-1755T>C) | |
16 | g.51139307A>T | CA395883273 | SALL1 | c.2915T>A (p.Leu972Ter) c.2624T>A (p.Leu875Ter) c.77-1755T>A (n.77-1755T>A) | |
16 | g.51139308A= | CA2222017742 | SALL1 | c.2914T= (p.Leu972=) c.2623T= (p.Leu875=) c.77-1756T= (n.77-1756T=) | |
16 | g.51139308A>C | CA395883275 | SALL1 | c.2914T>G (p.Leu972Val) c.2623T>G (p.Leu875Val) c.77-1756T>G (n.77-1756T>G) | dbSNP |
16 | g.51139308A>G | CA495780224 | SALL1 | c.2914T>C (p.Leu972=) c.2623T>C (p.Leu875=) c.77-1756T>C (n.77-1756T>C) | dbSNP gnomAD v4 |
16 | g.51139308A>T | CA395883276 | SALL1 | c.2914T>A (p.Leu972Met) c.2623T>A (p.Leu875Met) c.77-1756T>A (n.77-1756T>A) | dbSNP |
16 | g.51139309A>C | CA395883278 | SALL1 | c.2913T>G (p.Asp971Glu) c.2622T>G (p.Asp874Glu) c.77-1757T>G (n.77-1757T>G) | |
16 | g.51139309A>G | CA495780226 | SALL1 | c.2913T>C (p.Asp971=) c.2622T>C (p.Asp874=) c.77-1757T>C (n.77-1757T>C) | |
16 | g.51139309A>T | CA395883280 | SALL1 | c.2913T>A (p.Asp971Glu) c.2622T>A (p.Asp874Glu) c.77-1757T>A (n.77-1757T>A) | |
16 | g.51139310T>A | CA395883284 | SALL1 | c.2912A>T (p.Asp971Val) c.2621A>T (p.Asp874Val) c.77-1758A>T (n.77-1758A>T) | |
16 | g.51139310T>C | CA395883282 | SALL1 | c.2912A>G (p.Asp971Gly) c.2621A>G (p.Asp874Gly) c.77-1758A>G (n.77-1758A>G) | gnomAD v4 |
16 | g.51139310T>G | CA395883283 | SALL1 | c.2912A>C (p.Asp971Ala) c.2621A>C (p.Asp874Ala) c.77-1758A>C (n.77-1758A>C) | |
16 | g.51139311C>A | CA395883287 | SALL1 | c.2911G>T (p.Asp971Tyr) c.2620G>T (p.Asp874Tyr) c.77-1759G>T (n.77-1759G>T) | |
16 | g.51139311C>G | CA395883289 | SALL1 | c.2911G>C (p.Asp971His) c.2620G>C (p.Asp874His) c.77-1759G>C (n.77-1759G>C) | gnomAD v4 |
16 | g.51139311C>T | CA395883290 | SALL1 | c.2911G>A (p.Asp971Asn) c.2620G>A (p.Asp874Asn) c.77-1759G>A (n.77-1759G>A) | COSMIC |
16 | g.51139312C>A | CA395883291 | SALL1 | c.2910G>T (p.Leu970Phe) c.2619G>T (p.Leu873Phe) c.77-1760G>T (n.77-1760G>T) | |
16 | g.51139312C>G | CA395883292 | SALL1 | c.2910G>C (p.Leu970Phe) c.2619G>C (p.Leu873Phe) c.77-1760G>C (n.77-1760G>C) | |
16 | g.51139312C>T | CA495780228 | SALL1 | c.2910G>A (p.Leu970=) c.2619G>A (p.Leu873=) c.77-1760G>A (n.77-1760G>A) | |
16 | g.51139313A= | CA2222017752 | SALL1 | c.2909T= (p.Leu970=) c.2618T= (p.Leu873=) c.77-1761T= (n.77-1761T=) | |
16 | g.51139313A>C | CA395883293 | SALL1 | c.2909T>G (p.Leu970Trp) c.2618T>G (p.Leu873Trp) c.77-1761T>G (n.77-1761T>G) | |
16 | g.51139313A>G | CA395883295 | SALL1 | c.2909T>C (p.Leu970Ser) c.2618T>C (p.Leu873Ser) c.77-1761T>C (n.77-1761T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139313A>T | CA395883297 | SALL1 | c.2909T>A (p.Leu970Ter) c.2618T>A (p.Leu873Ter) c.77-1761T>A (n.77-1761T>A) | |
16 | g.51139314A>C | CA395883299 | SALL1 | c.2908T>G (p.Leu970Val) c.2617T>G (p.Leu873Val) c.77-1762T>G (n.77-1762T>G) | |
16 | g.51139314A>G | CA495780230 | SALL1 | c.2908T>C (p.Leu970=) c.2617T>C (p.Leu873=) c.77-1762T>C (n.77-1762T>C) | |
16 | g.51139314A>T | CA395883301 | SALL1 | c.2908T>A (p.Leu970Met) c.2617T>A (p.Leu873Met) c.77-1762T>A (n.77-1762T>A) | |
16 | g.51139315A= | CA2222017762 | SALL1 | c.2907T= (p.Ala969=) c.2616T= (p.Ala872=) c.77-1763T= (n.77-1763T=) | |
16 | g.51139315A>C | CA495780231 | SALL1 | c.2907T>G (p.Ala969=) c.2616T>G (p.Ala872=) c.77-1763T>G (n.77-1763T>G) | |
16 | g.51139315A>G | CA281301012 | SALL1 | c.2907T>C (p.Ala969=) c.2616T>C (p.Ala872=) c.77-1763T>C (n.77-1763T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139315A>T | CA495780232 | SALL1 | c.2907T>A (p.Ala969=) c.2616T>A (p.Ala872=) c.77-1763T>A (n.77-1763T>A) | |
16 | g.51139316G>A | CA395883303 | SALL1 | c.2906C>T (p.Ala969Val) c.2615C>T (p.Ala872Val) c.77-1764C>T (n.77-1764C>T) | |
16 | g.51139316G>C | CA395883305 | SALL1 | c.2906C>G (p.Ala969Gly) c.2615C>G (p.Ala872Gly) c.77-1764C>G (n.77-1764C>G) | gnomAD v4 |
16 | g.51139316G>T | CA395883306 | SALL1 | c.2906C>A (p.Ala969Asp) c.2615C>A (p.Ala872Asp) c.77-1764C>A (n.77-1764C>A) | |
16 | g.51139317C>A | CA395883309 | SALL1 | c.2905G>T (p.Ala969Ser) c.2614G>T (p.Ala872Ser) c.77-1765G>T (n.77-1765G>T) | |
16 | g.51139317C= | CA2222017770 | SALL1 | c.2905G= (p.Ala969=) c.2614G= (p.Ala872=) c.77-1765G= (n.77-1765G=) | |
16 | g.51139317C>G | CA395883312 | SALL1 | c.2905G>C (p.Ala969Pro) c.2614G>C (p.Ala872Pro) c.77-1765G>C (n.77-1765G>C) | |
16 | g.51139317C>T | CA8053018 | SALL1 | c.2905G>A (p.Ala969Thr) c.2614G>A (p.Ala872Thr) c.77-1765G>A (n.77-1765G>A) | dbSNP ExAC |
16 | g.51139318C>A | CA495780234 | SALL1 | c.2904G>T (p.Gly968=) c.2613G>T (p.Gly871=) c.77-1766G>T (n.77-1766G>T) | gnomAD v4 |
16 | g.51139318C= | CA2222017774 | SALL1 | c.2904G= (p.Gly968=) c.2613G= (p.Gly871=) c.77-1766G= (n.77-1766G=) | |
16 | g.51139318C>G | CA495780235 | SALL1 | c.2904G>C (p.Gly968=) c.2613G>C (p.Gly871=) c.77-1766G>C (n.77-1766G>C) | dbSNP |
16 | g.51139318C>T | CA8053019 | SALL1 | c.2904G>A (p.Gly968=) c.2613G>A (p.Gly871=) c.77-1766G>A (n.77-1766G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139319C>A | CA395883316 | SALL1 | c.2903G>T (p.Gly968Val) c.2612G>T (p.Gly871Val) c.77-1767G>T (n.77-1767G>T) | |
16 | g.51139319C>G | CA395883318 | SALL1 | c.2903G>C (p.Gly968Ala) c.2612G>C (p.Gly871Ala) c.77-1767G>C (n.77-1767G>C) | |
16 | g.51139319C>T | CA395883320 | SALL1 | c.2903G>A (p.Gly968Glu) c.2612G>A (p.Gly871Glu) c.77-1767G>A (n.77-1767G>A) | gnomAD v4 COSMIC |
16 | g.51139320C>A | CA395883322 | SALL1 | c.2902G>T (p.Gly968Trp) c.2611G>T (p.Gly871Trp) c.77-1768G>T (n.77-1768G>T) | |
16 | g.51139320C>G | CA395883323 | SALL1 | c.2902G>C (p.Gly968Arg) c.2611G>C (p.Gly871Arg) c.77-1768G>C (n.77-1768G>C) | |
16 | g.51139320C>T | CA395883325 | SALL1 | c.2902G>A (p.Gly968Arg) c.2611G>A (p.Gly871Arg) c.77-1768G>A (n.77-1768G>A) | |
16 | g.51139321A>C | CA495780242 | SALL1 | c.2901T>G (p.Gly967=) c.2610T>G (p.Gly870=) c.77-1769T>G (n.77-1769T>G) | |
16 | g.51139321A>G | CA495780243 | SALL1 | c.2901T>C (p.Gly967=) c.2610T>C (p.Gly870=) c.77-1769T>C (n.77-1769T>C) | |
16 | g.51139321A>T | CA495780244 | SALL1 | c.2901T>A (p.Gly967=) c.2610T>A (p.Gly870=) c.77-1769T>A (n.77-1769T>A) | |
16 | g.51139322C>A | CA395883327 | SALL1 | c.2900G>T (p.Gly967Val) c.2609G>T (p.Gly870Val) c.77-1770G>T (n.77-1770G>T) | |
16 | g.51139322C= | CA2222017777 | SALL1 | c.2900G= (p.Gly967=) c.2609G= (p.Gly870=) c.77-1770G= (n.77-1770G=) | |
16 | g.51139322C>G | CA395883329 | SALL1 | c.2900G>C (p.Gly967Ala) c.2609G>C (p.Gly870Ala) c.77-1770G>C (n.77-1770G>C) | |
16 | g.51139322C>T | CA395883331 | SALL1 | c.2900G>A (p.Gly967Asp) c.2609G>A (p.Gly870Asp) c.77-1770G>A (n.77-1770G>A) | dbSNP gnomAD v4 |
16 | g.51139323C>A | CA8053020 | SALL1 | c.2899G>T (p.Gly967Cys) c.2608G>T (p.Gly870Cys) c.77-1771G>T (n.77-1771G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139323C= | CA2222017780 | SALL1 | c.2899G= (p.Gly967=) c.2608G= (p.Gly870=) c.77-1771G= (n.77-1771G=) | |
16 | g.51139323C>G | CA395883333 | SALL1 | c.2899G>C (p.Gly967Arg) c.2608G>C (p.Gly870Arg) c.77-1771G>C (n.77-1771G>C) | |
16 | g.51139323C>T | CA395883335 | SALL1 | c.2899G>A (p.Gly967Ser) c.2608G>A (p.Gly870Ser) c.77-1771G>A (n.77-1771G>A) | |
16 | g.51139324A>C | CA395883340 | SALL1 | c.2898T>G (p.Asn966Lys) c.2607T>G (p.Asn869Lys) c.77-1772T>G (n.77-1772T>G) | |
16 | g.51139324A>G | CA495780061 | SALL1 | c.2898T>C (p.Asn966=) c.2607T>C (p.Asn869=) c.77-1772T>C (n.77-1772T>C) | gnomAD v4 |
16 | g.51139324A>T | CA395883338 | SALL1 | c.2898T>A (p.Asn966Lys) c.2607T>A (p.Asn869Lys) c.77-1772T>A (n.77-1772T>A) | gnomAD v4 |
16 | g.51139325T>A | CA395883342 | SALL1 | c.2897A>T (p.Asn966Ile) c.2606A>T (p.Asn869Ile) c.77-1773A>T (n.77-1773A>T) | |
16 | g.51139325T>C | CA395883344 | SALL1 | c.2897A>G (p.Asn966Ser) c.2606A>G (p.Asn869Ser) c.77-1773A>G (n.77-1773A>G) | |
16 | g.51139325T>G | CA395883345 | SALL1 | c.2897A>C (p.Asn966Thr) c.2606A>C (p.Asn869Thr) c.77-1773A>C (n.77-1773A>C) | |
16 | g.51139326T>A | CA395883348 | SALL1 | c.2896A>T (p.Asn966Tyr) c.2605A>T (p.Asn869Tyr) c.77-1774A>T (n.77-1774A>T) | |
16 | g.51139326T>C | CA395883350 | SALL1 | c.2896A>G (p.Asn966Asp) c.2605A>G (p.Asn869Asp) c.77-1774A>G (n.77-1774A>G) | |
16 | g.51139326T>G | CA395883351 | SALL1 | c.2896A>C (p.Asn966His) c.2605A>C (p.Asn869His) c.77-1774A>C (n.77-1774A>C) | |
16 | g.51139327C>A | CA495780062 | SALL1 | c.2895G>T (p.Val965=) c.2604G>T (p.Val868=) c.77-1775G>T (n.77-1775G>T) | |
16 | g.51139327C= | CA2222017782 | SALL1 | c.2895G= (p.Val965=) c.2604G= (p.Val868=) c.77-1775G= (n.77-1775G=) | |
16 | g.51139327C>G | CA495780063 | SALL1 | c.2895G>C (p.Val965=) c.2604G>C (p.Val868=) c.77-1775G>C (n.77-1775G>C) | |
16 | g.51139327C>T | CA495780064 | SALL1 | c.2895G>A (p.Val965=) c.2604G>A (p.Val868=) c.77-1775G>A (n.77-1775G>A) | dbSNP |
16 | g.51139328A>C | CA395883353 | SALL1 | c.2894T>G (p.Val965Gly) c.2603T>G (p.Val868Gly) c.77-1776T>G (n.77-1776T>G) | |
16 | g.51139328A>G | CA395883354 | SALL1 | c.2894T>C (p.Val965Ala) c.2603T>C (p.Val868Ala) c.77-1776T>C (n.77-1776T>C) | |
16 | g.51139328A>T | CA395883356 | SALL1 | c.2894T>A (p.Val965Glu) c.2603T>A (p.Val868Glu) c.77-1776T>A (n.77-1776T>A) | |
16 | g.51139329C>A | CA8053021 | SALL1 | c.2893G>T (p.Val965Leu) c.2602G>T (p.Val868Leu) c.77-1777G>T (n.77-1777G>T) | dbSNP ExAC gnomAD v2 |
16 | g.51139329C= | CA2222017786 | SALL1 | c.2893G= (p.Val965=) c.2602G= (p.Val868=) c.77-1777G= (n.77-1777G=) | |
16 | g.51139329C>G | CA395883359 | SALL1 | c.2893G>C (p.Val965Leu) c.2602G>C (p.Val868Leu) c.77-1777G>C (n.77-1777G>C) | |
16 | g.51139329C>T | CA395883361 | SALL1 | c.2893G>A (p.Val965Met) c.2602G>A (p.Val868Met) c.77-1777G>A (n.77-1777G>A) | gnomAD v4 |
16 | g.51139330T>A | CA495780065 | SALL1 | c.2892A>T (p.Pro964=) c.2601A>T (p.Pro867=) c.77-1778A>T (n.77-1778A>T) | |
16 | g.51139330T>C | CA495780066 | SALL1 | c.2892A>G (p.Pro964=) c.2601A>G (p.Pro867=) c.77-1778A>G (n.77-1778A>G) | gnomAD v4 |
16 | g.51139330T>G | CA495780067 | SALL1 | c.2892A>C (p.Pro964=) c.2601A>C (p.Pro867=) c.77-1778A>C (n.77-1778A>C) | |
16 | g.51139331G>A | CA395883366 | SALL1 | c.2891C>T (p.Pro964Leu) c.2600C>T (p.Pro867Leu) c.77-1779C>T (n.77-1779C>T) | |
16 | g.51139331G>C | CA395883365 | SALL1 | c.2891C>G (p.Pro964Arg) c.2600C>G (p.Pro867Arg) c.77-1779C>G (n.77-1779C>G) | |
16 | g.51139331G>T | CA395883363 | SALL1 | c.2891C>A (p.Pro964Gln) c.2600C>A (p.Pro867Gln) c.77-1779C>A (n.77-1779C>A) | gnomAD v4 |
16 | g.51139332G>A | CA395883367 | SALL1 | c.2890C>T (p.Pro964Ser) c.2599C>T (p.Pro867Ser) c.77-1780C>T (n.77-1780C>T) | COSMIC |
16 | g.51139332G>C | CA395883369 | SALL1 | c.2890C>G (p.Pro964Ala) c.2599C>G (p.Pro867Ala) c.77-1780C>G (n.77-1780C>G) | |
16 | g.51139332G>T | CA395883371 | SALL1 | c.2890C>A (p.Pro964Thr) c.2599C>A (p.Pro867Thr) c.77-1780C>A (n.77-1780C>A) | gnomAD v4 |
16 | g.51139333G>A | CA281301020 | SALL1 | c.2889C>T (p.Thr963=) c.2598C>T (p.Thr866=) c.77-1781C>T (n.77-1781C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139333G>C | CA495780068 | SALL1 | c.2889C>G (p.Thr963=) c.2598C>G (p.Thr866=) c.77-1781C>G (n.77-1781C>G) | |
16 | g.51139333G= | CA2222017789 | SALL1 | c.2889C= (p.Thr963=) c.2598C= (p.Thr866=) c.77-1781C= (n.77-1781C=) | |
16 | g.51139333G>T | CA495780069 | SALL1 | c.2889C>A (p.Thr963=) c.2598C>A (p.Thr866=) c.77-1781C>A (n.77-1781C>A) | |
16 | g.51139334G>A | CA395883373 | SALL1 | c.2888C>T (p.Thr963Ile) c.2597C>T (p.Thr866Ile) c.77-1782C>T (n.77-1782C>T) | dbSNP |
16 | g.51139334G>C | CA395883375 | SALL1 | c.2888C>G (p.Thr963Ser) c.2597C>G (p.Thr866Ser) c.77-1782C>G (n.77-1782C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139334G= | CA2222017792 | SALL1 | c.2888C= (p.Thr963=) c.2597C= (p.Thr866=) c.77-1782C= (n.77-1782C=) | |
16 | g.51139334G>T | CA395883377 | SALL1 | c.2888C>A (p.Thr963Asn) c.2597C>A (p.Thr866Asn) c.77-1782C>A (n.77-1782C>A) | |
16 | g.51139335T>A | CA395883382 | SALL1 | c.2887A>T (p.Thr963Ser) c.2596A>T (p.Thr866Ser) c.77-1783A>T (n.77-1783A>T) | |
16 | g.51139335T>C | CA395883381 | SALL1 | c.2887A>G (p.Thr963Ala) c.2596A>G (p.Thr866Ala) c.77-1783A>G (n.77-1783A>G) | |
16 | g.51139335T>G | CA395883379 | SALL1 | c.2887A>C (p.Thr963Pro) c.2596A>C (p.Thr866Pro) c.77-1783A>C (n.77-1783A>C) | |
16 | g.51139336G>A | CA495780070 | SALL1 | c.2886C>T (p.Pro962=) c.2595C>T (p.Pro865=) c.77-1784C>T (n.77-1784C>T) | |
16 | g.51139336G>C | CA495780071 | SALL1 | c.2886C>G (p.Pro962=) c.2595C>G (p.Pro865=) c.77-1784C>G (n.77-1784C>G) | |
16 | g.51139336G>T | CA495780072 | SALL1 | c.2886C>A (p.Pro962=) c.2595C>A (p.Pro865=) c.77-1784C>A (n.77-1784C>A) | |
16 | g.51139337G>A | CA395883385 | SALL1 | c.2885C>T (p.Pro962Leu) c.2594C>T (p.Pro865Leu) c.77-1785C>T (n.77-1785C>T) | |
16 | g.51139337G>C | CA395883387 | SALL1 | c.2885C>G (p.Pro962Arg) c.2594C>G (p.Pro865Arg) c.77-1785C>G (n.77-1785C>G) | |
16 | g.51139337G>T | CA395883389 | SALL1 | c.2885C>A (p.Pro962His) c.2594C>A (p.Pro865His) c.77-1785C>A (n.77-1785C>A) | |
16 | g.51139338G>A | CA395883391 | SALL1 | c.2884C>T (p.Pro962Ser) c.2593C>T (p.Pro865Ser) c.77-1786C>T (n.77-1786C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139338G>C | CA395883393 | SALL1 | c.2884C>G (p.Pro962Ala) c.2593C>G (p.Pro865Ala) c.77-1786C>G (n.77-1786C>G) | |
16 | g.51139338G= | CA2222017793 | SALL1 | c.2884C= (p.Pro962=) c.2593C= (p.Pro865=) c.77-1786C= (n.77-1786C=) | |
16 | g.51139338G>T | CA395883395 | SALL1 | c.2884C>A (p.Pro962Thr) c.2593C>A (p.Pro865Thr) c.77-1786C>A (n.77-1786C>A) | |
16 | g.51139339A>C | CA495780073 | SALL1 | c.2883T>G (p.Ser961=) c.2592T>G (p.Ser864=) c.77-1787T>G (n.77-1787T>G) | |
16 | g.51139339A>G | CA495780074 | SALL1 | c.2883T>C (p.Ser961=) c.2592T>C (p.Ser864=) c.77-1787T>C (n.77-1787T>C) | |
16 | g.51139339A>T | CA495780075 | SALL1 | c.2883T>A (p.Ser961=) c.2592T>A (p.Ser864=) c.77-1787T>A (n.77-1787T>A) | |
16 | g.51139340G>A | CA8053022 | SALL1 | c.2882C>T (p.Ser961Phe) c.2591C>T (p.Ser864Phe) c.77-1788C>T (n.77-1788C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139340G>C | CA395883398 | SALL1 | c.2882C>G (p.Ser961Cys) c.2591C>G (p.Ser864Cys) c.77-1788C>G (n.77-1788C>G) | gnomAD v4 |
16 | g.51139340G= | CA2222017797 | SALL1 | c.2882C= (p.Ser961=) c.2591C= (p.Ser864=) c.77-1788C= (n.77-1788C=) | |
16 | g.51139340G>T | CA395883400 | SALL1 | c.2882C>A (p.Ser961Tyr) c.2591C>A (p.Ser864Tyr) c.77-1788C>A (n.77-1788C>A) | |
16 | g.51139341A>C | CA395883403 | SALL1 | c.2881T>G (p.Ser961Ala) c.2590T>G (p.Ser864Ala) c.77-1789T>G (n.77-1789T>G) | |
16 | g.51139341A>G | CA395883405 | SALL1 | c.2881T>C (p.Ser961Pro) c.2590T>C (p.Ser864Pro) c.77-1789T>C (n.77-1789T>C) | |
16 | g.51139341A>T | CA395883407 | SALL1 | c.2881T>A (p.Ser961Thr) c.2590T>A (p.Ser864Thr) c.77-1789T>A (n.77-1789T>A) | gnomAD v4 |
16 | g.51139342C>A | CA395883409 | SALL1 | c.2880G>T (p.Leu960Phe) c.2589G>T (p.Leu863Phe) c.77-1790G>T (n.77-1790G>T) | dbSNP |
16 | g.51139342C= | CA2222017799 | SALL1 | c.2880G= (p.Leu960=) c.2589G= (p.Leu863=) c.77-1790G= (n.77-1790G=) | |
16 | g.51139342C>G | CA395883411 | SALL1 | c.2880G>C (p.Leu960Phe) c.2589G>C (p.Leu863Phe) c.77-1790G>C (n.77-1790G>C) | |
16 | g.51139342C>T | CA495780076 | SALL1 | c.2880G>A (p.Leu960=) c.2589G>A (p.Leu863=) c.77-1790G>A (n.77-1790G>A) | |
16 | g.51139343A>C | CA395883413 | SALL1 | c.2879T>G (p.Leu960Trp) c.2588T>G (p.Leu863Trp) c.77-1791T>G (n.77-1791T>G) | |
16 | g.51139343A>G | CA395883415 | SALL1 | c.2879T>C (p.Leu960Ser) c.2588T>C (p.Leu863Ser) c.77-1791T>C (n.77-1791T>C) | |
16 | g.51139343A>T | CA395883417 | SALL1 | c.2879T>A (p.Leu960Ter) c.2588T>A (p.Leu863Ter) c.77-1791T>A (n.77-1791T>A) | |
16 | g.51139344A>C | CA395883418 | SALL1 | c.2878T>G (p.Leu960Val) c.2587T>G (p.Leu863Val) c.77-1792T>G (n.77-1792T>G) | |
16 | g.51139344A>G | CA495780077 | SALL1 | c.2878T>C (p.Leu960=) c.2587T>C (p.Leu863=) c.77-1792T>C (n.77-1792T>C) | |
16 | g.51139344A>T | CA395883421 | SALL1 | c.2878T>A (p.Leu960Met) c.2587T>A (p.Leu863Met) c.77-1792T>A (n.77-1792T>A) | |
16 | g.51139345A>C | CA495780080 | SALL1 | c.2877T>G (p.Gly959=) c.2586T>G (p.Gly862=) c.77-1793T>G (n.77-1793T>G) | |
16 | g.51139345A>G | CA495780079 | SALL1 | c.2877T>C (p.Gly959=) c.2586T>C (p.Gly862=) c.77-1793T>C (n.77-1793T>C) | |
16 | g.51139345A>T | CA495780078 | SALL1 | c.2877T>A (p.Gly959=) c.2586T>A (p.Gly862=) c.77-1793T>A (n.77-1793T>A) | |
16 | g.51139346C>A | CA395883424 | SALL1 | c.2876G>T (p.Gly959Val) c.2585G>T (p.Gly862Val) c.77-1794G>T (n.77-1794G>T) | dbSNP |
16 | g.51139346C= | CA2222017801 | SALL1 | c.2876G= (p.Gly959=) c.2585G= (p.Gly862=) c.77-1794G= (n.77-1794G=) | |
16 | g.51139346C>G | CA395883426 | SALL1 | c.2876G>C (p.Gly959Ala) c.2585G>C (p.Gly862Ala) c.77-1794G>C (n.77-1794G>C) | |
16 | g.51139346C>T | CA395883427 | SALL1 | c.2876G>A (p.Gly959Asp) c.2585G>A (p.Gly862Asp) c.77-1794G>A (n.77-1794G>A) | |
16 | g.51139346_51139347insACAACCCAAACACACCCAACA | CA2807012904 | SALL1 | c.2875_2876insTGTTGGGTGTGTTTGGGTTGT (p.Gly959delinsValLeuGlyValPheGlyLeuCys) c.2584_2585insTGTTGGGTGTGTTTGGGTTGT (p.Gly862delinsValLeuGlyValPheGlyLeuCys) c.77-1795_77-1794insTGTTGGGTGTGTTTGGGTTGT (n.77-1795_77-1794insTGTTGGGTGTGTTTGGGTTGT) | |
16 | g.51139347C>A | CA395883430 | SALL1 | c.2875G>T (p.Gly959Cys) c.2584G>T (p.Gly862Cys) c.77-1795G>T (n.77-1795G>T) | gnomAD v4 |
16 | g.51139347C>G | CA395883434 | SALL1 | c.2875G>C (p.Gly959Arg) c.2584G>C (p.Gly862Arg) c.77-1795G>C (n.77-1795G>C) | |
16 | g.51139347C>T | CA395883432 | SALL1 | c.2875G>A (p.Gly959Ser) c.2584G>A (p.Gly862Ser) c.77-1795G>A (n.77-1795G>A) | |
16 | g.51139348A= | CA2222017805 | SALL1 | c.2874T= (p.Asn958=) c.2583T= (p.Asn861=) c.77-1796T= (n.77-1796T=) | |
16 | g.51139348A>C | CA395883436 | SALL1 | c.2874T>G (p.Asn958Lys) c.2583T>G (p.Asn861Lys) c.77-1796T>G (n.77-1796T>G) | |
16 | g.51139348A>G | CA495780081 | SALL1 | c.2874T>C (p.Asn958=) c.2583T>C (p.Asn861=) c.77-1796T>C (n.77-1796T>C) | dbSNP gnomAD v4 |
16 | g.51139348A>T | CA395883438 | SALL1 | c.2874T>A (p.Asn958Lys) c.2583T>A (p.Asn861Lys) c.77-1796T>A (n.77-1796T>A) | |
16 | g.51139349T>A | CA395883442 | SALL1 | c.2873A>T (p.Asn958Ile) c.2582A>T (p.Asn861Ile) c.77-1797A>T (n.77-1797A>T) | |
16 | g.51139349T>C | CA8053023 | SALL1 | c.2873A>G (p.Asn958Ser) c.2582A>G (p.Asn861Ser) c.77-1797A>G (n.77-1797A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139349T>G | CA395883444 | SALL1 | c.2873A>C (p.Asn958Thr) c.2582A>C (p.Asn861Thr) c.77-1797A>C (n.77-1797A>C) | gnomAD v4 |
16 | g.51139349T= | CA2222017808 | SALL1 | c.2873A= (p.Asn958=) c.2582A= (p.Asn861=) c.77-1797A= (n.77-1797A=) | |
16 | g.51139350T>A | CA395883446 | SALL1 | c.2872A>T (p.Asn958Tyr) c.2581A>T (p.Asn861Tyr) c.77-1798A>T (n.77-1798A>T) | |
16 | g.51139350T>C | CA395883449 | SALL1 | c.2872A>G (p.Asn958Asp) c.2581A>G (p.Asn861Asp) c.77-1798A>G (n.77-1798A>G) | |
16 | g.51139350T>G | CA395883450 | SALL1 | c.2872A>C (p.Asn958His) c.2581A>C (p.Asn861His) c.77-1798A>C (n.77-1798A>C) | |
16 | g.51139351G>A | CA495780082 | SALL1 | c.2871C>T (p.Ala957=) c.2580C>T (p.Ala860=) c.77-1799C>T (n.77-1799C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139351G>C | CA495780084 | SALL1 | c.2871C>G (p.Ala957=) c.2580C>G (p.Ala860=) c.77-1799C>G (n.77-1799C>G) | |
16 | g.51139351G= | CA2222017811 | SALL1 | c.2871C= (p.Ala957=) c.2580C= (p.Ala860=) c.77-1799C= (n.77-1799C=) | |
16 | g.51139351G>T | CA495780083 | SALL1 | c.2871C>A (p.Ala957=) c.2580C>A (p.Ala860=) c.77-1799C>A (n.77-1799C>A) | gnomAD v4 |
16 | g.51139352G>A | CA395883451 | SALL1 | c.2870C>T (p.Ala957Val) c.2579C>T (p.Ala860Val) c.77-1800C>T (n.77-1800C>T) | gnomAD v4 |
16 | g.51139352G>C | CA395883453 | SALL1 | c.2870C>G (p.Ala957Gly) c.2579C>G (p.Ala860Gly) c.77-1800C>G (n.77-1800C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139352G= | CA2222017819 | SALL1 | c.2870C= (p.Ala957=) c.2579C= (p.Ala860=) c.77-1800C= (n.77-1800C=) | |
16 | g.51139352G>T | CA395883455 | SALL1 | c.2870C>A (p.Ala957Asp) c.2579C>A (p.Ala860Asp) c.77-1800C>A (n.77-1800C>A) | dbSNP gnomAD v4 |
16 | g.51139353C>A | CA395883458 | SALL1 | c.2869G>T (p.Ala957Ser) c.2578G>T (p.Ala860Ser) c.77-1801G>T (n.77-1801G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139353C= | CA2222017822 | SALL1 | c.2869G= (p.Ala957=) c.2578G= (p.Ala860=) c.77-1801G= (n.77-1801G=) | |
16 | g.51139353C>G | CA395883459 | SALL1 | c.2869G>C (p.Ala957Pro) c.2578G>C (p.Ala860Pro) c.77-1801G>C (n.77-1801G>C) | |
16 | g.51139353C>T | CA395883461 | SALL1 | c.2869G>A (p.Ala957Thr) c.2578G>A (p.Ala860Thr) c.77-1801G>A (n.77-1801G>A) | |
16 | g.51139354A>C | CA395883463 | SALL1 | c.2868T>G (p.Phe956Leu) c.2577T>G (p.Phe859Leu) c.77-1802T>G (n.77-1802T>G) | |
16 | g.51139354A>G | CA495780085 | SALL1 | c.2868T>C (p.Phe956=) c.2577T>C (p.Phe859=) c.77-1802T>C (n.77-1802T>C) | |
16 | g.51139354A>T | CA395883465 | SALL1 | c.2868T>A (p.Phe956Leu) c.2577T>A (p.Phe859Leu) c.77-1802T>A (n.77-1802T>A) | |
16 | g.51139355A>C | CA395883468 | SALL1 | c.2867T>G (p.Phe956Cys) c.2576T>G (p.Phe859Cys) c.77-1803T>G (n.77-1803T>G) | |
16 | g.51139355A>G | CA395883469 | SALL1 | c.2867T>C (p.Phe956Ser) c.2576T>C (p.Phe859Ser) c.77-1803T>C (n.77-1803T>C) | |
16 | g.51139355A>T | CA395883471 | SALL1 | c.2867T>A (p.Phe956Tyr) c.2576T>A (p.Phe859Tyr) c.77-1803T>A (n.77-1803T>A) | |
16 | g.51139356A>C | CA395883474 | SALL1 | c.2866T>G (p.Phe956Val) c.2575T>G (p.Phe859Val) c.77-1804T>G (n.77-1804T>G) | |
16 | g.51139356A>G | CA395883475 | SALL1 | c.2866T>C (p.Phe956Leu) c.2575T>C (p.Phe859Leu) c.77-1804T>C (n.77-1804T>C) | |
16 | g.51139356A>T | CA395883477 | SALL1 | c.2866T>A (p.Phe956Ile) c.2575T>A (p.Phe859Ile) c.77-1804T>A (n.77-1804T>A) | |
16 | g.51139357C>A | CA395883479 | SALL1 | c.2865G>T (p.Glu955Asp) c.2574G>T (p.Glu858Asp) c.77-1805G>T (n.77-1805G>T) | gnomAD v4 |
16 | g.51139357C= | CA2222017823 | SALL1 | c.2865G= (p.Glu955=) c.2574G= (p.Glu858=) c.77-1805G= (n.77-1805G=) | |
16 | g.51139357C>G | CA395883481 | SALL1 | c.2865G>C (p.Glu955Asp) c.2574G>C (p.Glu858Asp) c.77-1805G>C (n.77-1805G>C) | gnomAD v4 |
16 | g.51139357C>T | CA495780086 | SALL1 | c.2865G>A (p.Glu955=) c.2574G>A (p.Glu858=) c.77-1805G>A (n.77-1805G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139358T>A | CA395883484 | SALL1 | c.2864A>T (p.Glu955Val) c.2573A>T (p.Glu858Val) c.77-1806A>T (n.77-1806A>T) | |
16 | g.51139358T>C | CA395883485 | SALL1 | c.2864A>G (p.Glu955Gly) c.2573A>G (p.Glu858Gly) c.77-1806A>G (n.77-1806A>G) | COSMIC |
16 | g.51139358T>G | CA395883488 | SALL1 | c.2864A>C (p.Glu955Ala) c.2573A>C (p.Glu858Ala) c.77-1806A>C (n.77-1806A>C) | |
16 | g.51139359C>A | CA395883493 | SALL1 | c.2863G>T (p.Glu955Ter) c.2572G>T (p.Glu858Ter) c.77-1807G>T (n.77-1807G>T) | |
16 | g.51139359C= | CA2222017826 | SALL1 | c.2863G= (p.Glu955=) c.2572G= (p.Glu858=) c.77-1807G= (n.77-1807G=) | |
16 | g.51139359C>G | CA395883491 | SALL1 | c.2863G>C (p.Glu955Gln) c.2572G>C (p.Glu858Gln) c.77-1807G>C (n.77-1807G>C) | |
16 | g.51139359C>T | CA8053024 | SALL1 | c.2863G>A (p.Glu955Lys) c.2572G>A (p.Glu858Lys) c.77-1807G>A (n.77-1807G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139360G>A | CA8053025 | SALL1 | c.2862C>T (p.Ser954=) c.2571C>T (p.Ser857=) c.77-1808C>T (n.77-1808C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139360G>C | CA395883498 | SALL1 | c.2862C>G (p.Ser954Arg) c.2571C>G (p.Ser857Arg) c.77-1808C>G (n.77-1808C>G) | |
16 | g.51139360G= | CA2222017830 | SALL1 | c.2862C= (p.Ser954=) c.2571C= (p.Ser857=) c.77-1808C= (n.77-1808C=) | |
16 | g.51139360G>T | CA395883496 | SALL1 | c.2862C>A (p.Ser954Arg) c.2571C>A (p.Ser857Arg) c.77-1808C>A (n.77-1808C>A) | |
16 | g.51139361C>A | CA395883500 | SALL1 | c.2861G>T (p.Ser954Ile) c.2570G>T (p.Ser857Ile) c.77-1809G>T (n.77-1809G>T) | |
16 | g.51139361C= | CA2222017832 | SALL1 | c.2861G= (p.Ser954=) c.2570G= (p.Ser857=) c.77-1809G= (n.77-1809G=) | |
16 | g.51139361C>G | CA395883504 | SALL1 | c.2861G>C (p.Ser954Thr) c.2570G>C (p.Ser857Thr) c.77-1809G>C (n.77-1809G>C) | |
16 | g.51139361C>T | CA395883503 | SALL1 | c.2861G>A (p.Ser954Asn) c.2570G>A (p.Ser857Asn) c.77-1809G>A (n.77-1809G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139362T>A | CA395883508 | SALL1 | c.2860A>T (p.Ser954Cys) c.2569A>T (p.Ser857Cys) c.77-1810A>T (n.77-1810A>T) | |
16 | g.51139362T>C | CA395883511 | SALL1 | c.2860A>G (p.Ser954Gly) c.2569A>G (p.Ser857Gly) c.77-1810A>G (n.77-1810A>G) | |
16 | g.51139362T>G | CA395883509 | SALL1 | c.2860A>C (p.Ser954Arg) c.2569A>C (p.Ser857Arg) c.77-1810A>C (n.77-1810A>C) | |
16 | g.51139363del | CA2560705920 | SALL1 | c.2860del (p.Ser954AlafsTer12) c.2569del (p.Ser857AlafsTer12) c.77-1810del (n.77-1810del) | |
16 | g.51139363T>A | CA495780087 | SALL1 | c.2859A>T (p.Pro953=) c.2568A>T (p.Pro856=) c.77-1811A>T (n.77-1811A>T) | |
16 | g.51139363T>C | CA495780088 | SALL1 | c.2859A>G (p.Pro953=) c.2568A>G (p.Pro856=) c.77-1811A>G (n.77-1811A>G) | |
16 | g.51139363T>G | CA495780089 | SALL1 | c.2859A>C (p.Pro953=) c.2568A>C (p.Pro856=) c.77-1811A>C (n.77-1811A>C) | |
16 | g.51139364G>A | CA395883513 | SALL1 | c.2858C>T (p.Pro953Leu) c.2567C>T (p.Pro856Leu) c.77-1812C>T (n.77-1812C>T) | |
16 | g.51139364G>C | CA395883516 | SALL1 | c.2858C>G (p.Pro953Arg) c.2567C>G (p.Pro856Arg) c.77-1812C>G (n.77-1812C>G) | |
16 | g.51139364G>T | CA395883518 | SALL1 | c.2858C>A (p.Pro953Gln) c.2567C>A (p.Pro856Gln) c.77-1812C>A (n.77-1812C>A) | |
16 | g.51139365G>A | CA395883520 | SALL1 | c.2857C>T (p.Pro953Ser) c.2566C>T (p.Pro856Ser) c.77-1813C>T (n.77-1813C>T) | gnomAD v4 |
16 | g.51139365G>C | CA395883522 | SALL1 | c.2857C>G (p.Pro953Ala) c.2566C>G (p.Pro856Ala) c.77-1813C>G (n.77-1813C>G) | |
16 | g.51139365G= | CA2222017835 | SALL1 | c.2857C= (p.Pro953=) c.2566C= (p.Pro856=) c.77-1813C= (n.77-1813C=) | |
16 | g.51139365G>T | CA8053026 | SALL1 | c.2857C>A (p.Pro953Thr) c.2566C>A (p.Pro856Thr) c.77-1813C>A (n.77-1813C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139365_51139367del | CA2807012905 | SALL1 | c.2855_2857del (p.Val952_Pro953delinsAla) c.2564_2566del (p.Val855_Pro856delinsAla) c.77-1815_77-1813del (n.77-1815_77-1813del) | |
16 | g.51139366G>A | CA495780092 | SALL1 | c.2856C>T (p.Val952=) c.2565C>T (p.Val855=) c.77-1814C>T (n.77-1814C>T) | |
16 | g.51139366G>C | CA495780091 | SALL1 | c.2856C>G (p.Val952=) c.2565C>G (p.Val855=) c.77-1814C>G (n.77-1814C>G) | |
16 | g.51139366G>T | CA495780090 | SALL1 | c.2856C>A (p.Val952=) c.2565C>A (p.Val855=) c.77-1814C>A (n.77-1814C>A) | |
16 | g.51139367A>C | CA395883525 | SALL1 | c.2855T>G (p.Val952Gly) c.2564T>G (p.Val855Gly) c.77-1815T>G (n.77-1815T>G) | |
16 | g.51139367A>G | CA395883527 | SALL1 | c.2855T>C (p.Val952Ala) c.2564T>C (p.Val855Ala) c.77-1815T>C (n.77-1815T>C) | |
16 | g.51139367A>T | CA395883528 | SALL1 | c.2855T>A (p.Val952Asp) c.2564T>A (p.Val855Asp) c.77-1815T>A (n.77-1815T>A) | |
16 | g.51139368C>A | CA395883529 | SALL1 | c.2854G>T (p.Val952Phe) c.2563G>T (p.Val855Phe) c.77-1816G>T (n.77-1816G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139368C= | CA2222017838 | SALL1 | c.2854G= (p.Val952=) c.2563G= (p.Val855=) c.77-1816G= (n.77-1816G=) | |
16 | g.51139368C>G | CA395883530 | SALL1 | c.2854G>C (p.Val952Leu) c.2563G>C (p.Val855Leu) c.77-1816G>C (n.77-1816G>C) | |
16 | g.51139368C>T | CA8053027 | SALL1 | c.2854G>A (p.Val952Ile) c.2563G>A (p.Val855Ile) c.77-1816G>A (n.77-1816G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139369C>A | CA495780093 | SALL1 | c.2853G>T (p.Ala951=) c.2562G>T (p.Ala854=) c.77-1817G>T (n.77-1817G>T) | |
16 | g.51139369C= | CA2222017842 | SALL1 | c.2853G= (p.Ala951=) c.2562G= (p.Ala854=) c.77-1817G= (n.77-1817G=) | |
16 | g.51139369C>G | CA495780094 | SALL1 | c.2853G>C (p.Ala951=) c.2562G>C (p.Ala854=) c.77-1817G>C (n.77-1817G>C) | gnomAD v4 COSMIC |
16 | g.51139369C>T | CA8053028 | SALL1 | c.2853G>A (p.Ala951=) c.2562G>A (p.Ala854=) c.77-1817G>A (n.77-1817G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139369_51139370insCCT | CA2807012906 | SALL1 | c.2852_2853insAGG (p.Ala951_Val952insGly) c.2561_2562insAGG (p.Ala854_Val855insGly) c.77-1818_77-1817insAGG (n.77-1818_77-1817insAGG) | |
16 | g.51139370G>A | CA8053029 | SALL1 | c.2852C>T (p.Ala951Val) c.2561C>T (p.Ala854Val) c.77-1818C>T (n.77-1818C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139370G>C | CA395883535 | SALL1 | c.2852C>G (p.Ala951Gly) c.2561C>G (p.Ala854Gly) c.77-1818C>G (n.77-1818C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139370G= | CA2222017849 | SALL1 | c.2852C= (p.Ala951=) c.2561C= (p.Ala854=) c.77-1818C= (n.77-1818C=) | |
16 | g.51139370G>T | CA395883538 | SALL1 | c.2852C>A (p.Ala951Glu) c.2561C>A (p.Ala854Glu) c.77-1818C>A (n.77-1818C>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139370dup | CA2567641251 | SALL1 | c.2852dup (p.Val952GlyfsTer24) c.2561dup (p.Val855GlyfsTer24) c.77-1818dup (n.77-1818dup) | |
16 | g.51139371C>A | CA395883541 | SALL1 | c.2851G>T (p.Ala951Ser) c.2560G>T (p.Ala854Ser) c.77-1819G>T (n.77-1819G>T) | dbSNP gnomAD v4 |
16 | g.51139371C= | CA2222017852 | SALL1 | c.2851G= (p.Ala951=) c.2560G= (p.Ala854=) c.77-1819G= (n.77-1819G=) | |
16 | g.51139371C>G | CA395883543 | SALL1 | c.2851G>C (p.Ala951Pro) c.2560G>C (p.Ala854Pro) c.77-1819G>C (n.77-1819G>C) | |
16 | g.51139371C>T | CA395883545 | SALL1 | c.2851G>A (p.Ala951Thr) c.2560G>A (p.Ala854Thr) c.77-1819G>A (n.77-1819G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.51139372T>A | CA395883547 | SALL1 | c.2850A>T (p.Arg950Ser) c.2559A>T (p.Arg853Ser) c.77-1820A>T (n.77-1820A>T) | |
16 | g.51139372T>C | CA495780095 | SALL1 | c.2850A>G (p.Arg950=) c.2559A>G (p.Arg853=) c.77-1820A>G (n.77-1820A>G) | |
16 | g.51139372T>G | CA395883549 | SALL1 | c.2850A>C (p.Arg950Ser) c.2559A>C (p.Arg853Ser) c.77-1820A>C (n.77-1820A>C) | |
16 | g.51139373C>A | CA395883550 | SALL1 | c.2849G>T (p.Arg950Ile) c.2558G>T (p.Arg853Ile) c.77-1821G>T (n.77-1821G>T) | |
16 | g.51139373C= | CA2222017855 | SALL1 | c.2849G= (p.Arg950=) c.2558G= (p.Arg853=) c.77-1821G= (n.77-1821G=) | |
16 | g.51139373C>G | CA8053030 | SALL1 | c.2849G>C (p.Arg950Thr) c.2558G>C (p.Arg853Thr) c.77-1821G>C (n.77-1821G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139373C>T | CA395883552 | SALL1 | c.2849G>A (p.Arg950Lys) c.2558G>A (p.Arg853Lys) c.77-1821G>A (n.77-1821G>A) | COSMIC |
16 | g.51139374T>A | CA395883554 | SALL1 | c.2848A>T (p.Arg950Ter) c.2557A>T (p.Arg853Ter) c.77-1822A>T (n.77-1822A>T) | |
16 | g.51139374T>C | CA395883555 | SALL1 | c.2848A>G (p.Arg950Gly) c.2557A>G (p.Arg853Gly) c.77-1822A>G (n.77-1822A>G) | |
16 | g.51139374T>G | CA495780096 | SALL1 | c.2848A>C (p.Arg950=) c.2557A>C (p.Arg853=) c.77-1822A>C (n.77-1822A>C) | |
16 | g.51139374_51139375insTA | CA2807012907 | SALL1 | c.2847_2848insTA (p.Arg950Ter) c.2556_2557insTA (p.Arg853Ter) c.77-1823_77-1822insTA (n.77-1823_77-1822insTA) | |
16 | g.51139375C>A | CA395883557 | SALL1 | c.2847G>T (p.Gln949His) c.2556G>T (p.Gln852His) c.77-1823G>T (n.77-1823G>T) | COSMIC |
16 | g.51139375C>G | CA395883558 | SALL1 | c.2847G>C (p.Gln949His) c.2556G>C (p.Gln852His) c.77-1823G>C (n.77-1823G>C) | |
16 | g.51139375C>T | CA495780097 | SALL1 | c.2847G>A (p.Gln949=) c.2556G>A (p.Gln852=) c.77-1823G>A (n.77-1823G>A) | gnomAD v4 |
16 | g.51139376T>A | CA395883562 | SALL1 | c.2846A>T (p.Gln949Leu) c.2555A>T (p.Gln852Leu) c.77-1824A>T (n.77-1824A>T) | dbSNP |
16 | g.51139376T>C | CA281301056 | SALL1 | c.2846A>G (p.Gln949Arg) c.2555A>G (p.Gln852Arg) c.77-1824A>G (n.77-1824A>G) | ClinVar dbSNP gnomAD v4 |
16 | g.51139376T>G | CA395883564 | SALL1 | c.2846A>C (p.Gln949Pro) c.2555A>C (p.Gln852Pro) c.77-1824A>C (n.77-1824A>C) | |
16 | g.51139376T= | CA2222017857 | SALL1 | c.2846A= (p.Gln949=) c.2555A= (p.Gln852=) c.77-1824A= (n.77-1824A=) | |
16 | g.51139378_51139379del | CA2807012908 | SALL1 | c.2845_2846del (p.Gln949GlufsTer26) c.2554_2555del (p.Gln852GlufsTer26) c.77-1825_77-1824del (n.77-1825_77-1824del) | |
16 | g.51139377G>A | CA395883568 | SALL1 | c.2845C>T (p.Gln949Ter) c.2554C>T (p.Gln852Ter) c.77-1825C>T (n.77-1825C>T) | |
16 | g.51139377G>C | CA395883571 | SALL1 | c.2845C>G (p.Gln949Glu) c.2554C>G (p.Gln852Glu) c.77-1825C>G (n.77-1825C>G) | |
16 | g.51139377G>T | CA395883573 | SALL1 | c.2845C>A (p.Gln949Lys) c.2554C>A (p.Gln852Lys) c.77-1825C>A (n.77-1825C>A) | COSMIC |
16 | g.51139378T>A | CA495780103 | SALL1 | c.2844A>T (p.Pro948=) c.2553A>T (p.Pro851=) c.77-1826A>T (n.77-1826A>T) | |
16 | g.51139378T>C | CA495780101 | SALL1 | c.2844A>G (p.Pro948=) c.2553A>G (p.Pro851=) c.77-1826A>G (n.77-1826A>G) | |
16 | g.51139378T>G | CA495780099 | SALL1 | c.2844A>C (p.Pro948=) c.2553A>C (p.Pro851=) c.77-1826A>C (n.77-1826A>C) | |
16 | g.51139379G>A | CA395883575 | SALL1 | c.2843C>T (p.Pro948Leu) c.2552C>T (p.Pro851Leu) c.77-1827C>T (n.77-1827C>T) | gnomAD v4 |
16 | g.51139379G>C | CA395883577 | SALL1 | c.2843C>G (p.Pro948Arg) c.2552C>G (p.Pro851Arg) c.77-1827C>G (n.77-1827C>G) | gnomAD v4 |
16 | g.51139379G>T | CA395883579 | SALL1 | c.2843C>A (p.Pro948Gln) c.2552C>A (p.Pro851Gln) c.77-1827C>A (n.77-1827C>A) | |
16 | g.51139380G>A | CA395883581 | SALL1 | c.2842C>T (p.Pro948Ser) c.2551C>T (p.Pro851Ser) c.77-1828C>T (n.77-1828C>T) | |
16 | g.51139380G>C | CA395883583 | SALL1 | c.2842C>G (p.Pro948Ala) c.2551C>G (p.Pro851Ala) c.77-1828C>G (n.77-1828C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139380G= | CA2222017859 | SALL1 | c.2842C= (p.Pro948=) c.2551C= (p.Pro851=) c.77-1828C= (n.77-1828C=) | |
16 | g.51139380G>T | CA395883585 | SALL1 | c.2842C>A (p.Pro948Thr) c.2551C>A (p.Pro851Thr) c.77-1828C>A (n.77-1828C>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139381T>A | CA395883587 | SALL1 | c.2841A>T (p.Lys947Asn) c.2550A>T (p.Lys850Asn) c.77-1829A>T (n.77-1829A>T) | |
16 | g.51139381T>C | CA495780105 | SALL1 | c.2841A>G (p.Lys947=) c.2550A>G (p.Lys850=) c.77-1829A>G (n.77-1829A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139381T>G | CA395883588 | SALL1 | c.2841A>C (p.Lys947Asn) c.2550A>C (p.Lys850Asn) c.77-1829A>C (n.77-1829A>C) | |
16 | g.51139381T= | CA2222017864 | SALL1 | c.2841A= (p.Lys947=) c.2550A= (p.Lys850=) c.77-1829A= (n.77-1829A=) | |
16 | g.51139382T>A | CA395883592 | SALL1 | c.2840A>T (p.Lys947Ile) c.2549A>T (p.Lys850Ile) c.77-1830A>T (n.77-1830A>T) | |
16 | g.51139382T>C | CA395883589 | SALL1 | c.2840A>G (p.Lys947Arg) c.2549A>G (p.Lys850Arg) c.77-1830A>G (n.77-1830A>G) | |
16 | g.51139382T>G | CA395883591 | SALL1 | c.2840A>C (p.Lys947Thr) c.2549A>C (p.Lys850Thr) c.77-1830A>C (n.77-1830A>C) | |
16 | g.51139383T>A | CA395883594 | SALL1 | c.2839A>T (p.Lys947Ter) c.2548A>T (p.Lys850Ter) c.77-1831A>T (n.77-1831A>T) | |
16 | g.51139383T>C | CA395883596 | SALL1 | c.2839A>G (p.Lys947Glu) c.2548A>G (p.Lys850Glu) c.77-1831A>G (n.77-1831A>G) | |
16 | g.51139383T>G | CA395883597 | SALL1 | c.2839A>C (p.Lys947Gln) c.2548A>C (p.Lys850Gln) c.77-1831A>C (n.77-1831A>C) | |
16 | g.51139384C>A | CA395883598 | SALL1 | c.2838G>T (p.Glu946Asp) c.2547G>T (p.Glu849Asp) c.77-1832G>T (n.77-1832G>T) | |
16 | g.51139384C>G | CA395883599 | SALL1 | c.2838G>C (p.Glu946Asp) c.2547G>C (p.Glu849Asp) c.77-1832G>C (n.77-1832G>C) | |
16 | g.51139384C>T | CA495780109 | SALL1 | c.2838G>A (p.Glu946=) c.2547G>A (p.Glu849=) c.77-1832G>A (n.77-1832G>A) | COSMIC |
16 | g.51139385T>A | CA395883601 | SALL1 | c.2837A>T (p.Glu946Val) c.2546A>T (p.Glu849Val) c.77-1833A>T (n.77-1833A>T) | |
16 | g.51139385T>C | CA395883602 | SALL1 | c.2837A>G (p.Glu946Gly) c.2546A>G (p.Glu849Gly) c.77-1833A>G (n.77-1833A>G) | dbSNP gnomAD v4 COSMIC |
16 | g.51139385T>G | CA395883604 | SALL1 | c.2837A>C (p.Glu946Ala) c.2546A>C (p.Glu849Ala) c.77-1833A>C (n.77-1833A>C) | |
16 | g.51139385T= | CA2222017867 | SALL1 | c.2837A= (p.Glu946=) c.2546A= (p.Glu849=) c.77-1833A= (n.77-1833A=) | |
16 | g.51139386C>A | CA395883606 | SALL1 | c.2836G>T (p.Glu946Ter) c.2545G>T (p.Glu849Ter) c.77-1834G>T (n.77-1834G>T) | |
16 | g.51139386C= | CA2222017873 | SALL1 | c.2836G= (p.Glu946=) c.2545G= (p.Glu849=) c.77-1834G= (n.77-1834G=) | |
16 | g.51139386C>G | CA395883608 | SALL1 | c.2836G>C (p.Glu946Gln) c.2545G>C (p.Glu849Gln) c.77-1834G>C (n.77-1834G>C) | |
16 | g.51139386C>T | CA8053031 | SALL1 | c.2836G>A (p.Glu946Lys) c.2545G>A (p.Glu849Lys) c.77-1834G>A (n.77-1834G>A) | dbSNP ExAC gnomAD v2 |
16 | g.51139387C>A | CA395883614 | SALL1 | c.2835G>T (p.Glu945Asp) c.2544G>T (p.Glu848Asp) c.77-1835G>T (n.77-1835G>T) | |
16 | g.51139387C>G | CA395883612 | SALL1 | c.2835G>C (p.Glu945Asp) c.2544G>C (p.Glu848Asp) c.77-1835G>C (n.77-1835G>C) | |
16 | g.51139387C>T | CA495780111 | SALL1 | c.2835G>A (p.Glu945=) c.2544G>A (p.Glu848=) c.77-1835G>A (n.77-1835G>A) | COSMIC |
16 | g.51139388T>A | CA395883616 | SALL1 | c.2834A>T (p.Glu945Val) c.2543A>T (p.Glu848Val) c.77-1836A>T (n.77-1836A>T) | |
16 | g.51139388T>C | CA395883620 | SALL1 | c.2834A>G (p.Glu945Gly) c.2543A>G (p.Glu848Gly) c.77-1836A>G (n.77-1836A>G) | gnomAD v4 |
16 | g.51139388T>G | CA395883618 | SALL1 | c.2834A>C (p.Glu945Ala) c.2543A>C (p.Glu848Ala) c.77-1836A>C (n.77-1836A>C) |