Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51139548A= | CA2222018252 | SALL1 | c.2674T= (p.Ser892=) c.2383T= (p.Ser795=) c.77-1996T= (n.77-1996T=) | |
16 | g.51139548A>C | CA395884134 | SALL1 | c.2674T>G (p.Ser892Ala) c.2383T>G (p.Ser795Ala) c.77-1996T>G (n.77-1996T>G) | |
16 | g.51139548A>G | CA8053058 | SALL1 | c.2674T>C (p.Ser892Pro) c.2383T>C (p.Ser795Pro) c.77-1996T>C (n.77-1996T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139548A>T | CA395884135 | SALL1 | c.2674T>A (p.Ser892Thr) c.2383T>A (p.Ser795Thr) c.77-1996T>A (n.77-1996T>A) | |
16 | g.51139549C>A | CA8053059 | SALL1 | c.2673G>T (p.Gly891=) c.2382G>T (p.Gly794=) c.77-1997G>T (n.77-1997G>T) | dbSNP ExAC gnomAD v2 |
16 | g.51139549C= | CA2222018256 | SALL1 | c.2673G= (p.Gly891=) c.2382G= (p.Gly794=) c.77-1997G= (n.77-1997G=) | |
16 | g.51139549C>G | CA495780273 | SALL1 | c.2673G>C (p.Gly891=) c.2382G>C (p.Gly794=) c.77-1997G>C (n.77-1997G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139549C>T | CA495780274 | SALL1 | c.2673G>A (p.Gly891=) c.2382G>A (p.Gly794=) c.77-1997G>A (n.77-1997G>A) | |
16 | g.51139550C>A | CA395884136 | SALL1 | c.2672G>T (p.Gly891Val) c.2381G>T (p.Gly794Val) c.77-1998G>T (n.77-1998G>T) | COSMIC |
16 | g.51139550C= | CA2222018260 | SALL1 | c.2672G= (p.Gly891=) c.2381G= (p.Gly794=) c.77-1998G= (n.77-1998G=) | |
16 | g.51139550C>G | CA395884137 | SALL1 | c.2672G>C (p.Gly891Ala) c.2381G>C (p.Gly794Ala) c.77-1998G>C (n.77-1998G>C) | |
16 | g.51139550C>T | CA395884138 | SALL1 | c.2672G>A (p.Gly891Glu) c.2381G>A (p.Gly794Glu) c.77-1998G>A (n.77-1998G>A) | dbSNP |
16 | g.51139551C>A | CA8053060 | SALL1 | c.2671G>T (p.Gly891Trp) c.2380G>T (p.Gly794Trp) c.77-1999G>T (n.77-1999G>T) | dbSNP ExAC gnomAD v4 |
16 | g.51139551C= | CA2222018264 | SALL1 | c.2671G= (p.Gly891=) c.2380G= (p.Gly794=) c.77-1999G= (n.77-1999G=) | |
16 | g.51139551C>G | CA395884139 | SALL1 | c.2671G>C (p.Gly891Arg) c.2380G>C (p.Gly794Arg) c.77-1999G>C (n.77-1999G>C) | |
16 | g.51139551C>T | CA395884140 | SALL1 | c.2671G>A (p.Gly891Arg) c.2380G>A (p.Gly794Arg) c.77-1999G>A (n.77-1999G>A) | |
16 | g.51139552A= | CA2222018267 | SALL1 | c.2670T= (p.Asn890=) c.2379T= (p.Asn793=) c.77-2000T= (n.77-2000T=) | |
16 | g.51139552A>C | CA395884141 | SALL1 | c.2670T>G (p.Asn890Lys) c.2379T>G (p.Asn793Lys) c.77-2000T>G (n.77-2000T>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139552A>G | CA495780275 | SALL1 | c.2670T>C (p.Asn890=) c.2379T>C (p.Asn793=) c.77-2000T>C (n.77-2000T>C) | |
16 | g.51139552A>T | CA395884142 | SALL1 | c.2670T>A (p.Asn890Lys) c.2379T>A (p.Asn793Lys) c.77-2000T>A (n.77-2000T>A) | |
16 | g.51139553T>A | CA395884143 | SALL1 | c.2669A>T (p.Asn890Ile) c.2378A>T (p.Asn793Ile) c.77-2001A>T (n.77-2001A>T) | |
16 | g.51139553T>C | CA395884144 | SALL1 | c.2669A>G (p.Asn890Ser) c.2378A>G (p.Asn793Ser) c.77-2001A>G (n.77-2001A>G) | gnomAD v4 |
16 | g.51139553T>G | CA395884145 | SALL1 | c.2669A>C (p.Asn890Thr) c.2378A>C (p.Asn793Thr) c.77-2001A>C (n.77-2001A>C) | |
16 | g.51139554T>A | CA395884148 | SALL1 | c.2668A>T (p.Asn890Tyr) c.2377A>T (p.Asn793Tyr) c.77-2002A>T (n.77-2002A>T) | |
16 | g.51139554T>C | CA395884146 | SALL1 | c.2668A>G (p.Asn890Asp) c.2377A>G (p.Asn793Asp) c.77-2002A>G (n.77-2002A>G) | |
16 | g.51139554T>G | CA395884147 | SALL1 | c.2668A>C (p.Asn890His) c.2377A>C (p.Asn793His) c.77-2002A>C (n.77-2002A>C) | |
16 | g.51139555C>A | CA395884149 | SALL1 | c.2667G>T (p.Glu889Asp) c.2376G>T (p.Glu792Asp) c.77-2003G>T (n.77-2003G>T) | |
16 | g.51139555C= | CA2222018270 | SALL1 | c.2667G= (p.Glu889=) c.2376G= (p.Glu792=) c.77-2003G= (n.77-2003G=) | |
16 | g.51139555C>G | CA395884150 | SALL1 | c.2667G>C (p.Glu889Asp) c.2376G>C (p.Glu792Asp) c.77-2003G>C (n.77-2003G>C) | |
16 | g.51139555C>T | CA495780276 | SALL1 | c.2667G>A (p.Glu889=) c.2376G>A (p.Glu792=) c.77-2003G>A (n.77-2003G>A) | dbSNP gnomAD v4 |
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) |