Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51141169C>A | CA495781164 | SALL1 | c.1053G>T (p.Pro351=) c.762G>T (p.Pro254=) c.77-3617G>T (n.77-3617G>T) | |
16 | g.51141169C= | CA2222021531 | SALL1 | c.1053G= (p.Pro351=) c.762G= (p.Pro254=) c.77-3617G= (n.77-3617G=) | |
16 | g.51141169C>G | CA495781165 | SALL1 | c.1053G>C (p.Pro351=) c.762G>C (p.Pro254=) c.77-3617G>C (n.77-3617G>C) | gnomAD v4 |
16 | g.51141169C>T | CA281302744 | SALL1 | c.1053G>A (p.Pro351=) c.762G>A (p.Pro254=) c.77-3617G>A (n.77-3617G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51141170G>A | CA8053348 | SALL1 | c.1052C>T (p.Pro351Leu) c.761C>T (p.Pro254Leu) c.77-3618C>T (n.77-3618C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141170G>C | CA395889810 | SALL1 | c.1052C>G (p.Pro351Arg) c.761C>G (p.Pro254Arg) c.77-3618C>G (n.77-3618C>G) | |
16 | g.51141170G= | CA2222021538 | SALL1 | c.1052C= (p.Pro351=) c.761C= (p.Pro254=) c.77-3618C= (n.77-3618C=) | |
16 | g.51141170G>T | CA395889807 | SALL1 | c.1052C>A (p.Pro351Gln) c.761C>A (p.Pro254Gln) c.77-3618C>A (n.77-3618C>A) | |
16 | g.51141171G>A | CA395889814 | SALL1 | c.1051C>T (p.Pro351Ser) c.760C>T (p.Pro254Ser) c.77-3619C>T (n.77-3619C>T) | dbSNP gnomAD v4 COSMIC |
16 | g.51141171G>C | CA395889815 | SALL1 | c.1051C>G (p.Pro351Ala) c.760C>G (p.Pro254Ala) c.77-3619C>G (n.77-3619C>G) | |
16 | g.51141171G>T | CA395889816 | SALL1 | c.1051C>A (p.Pro351Thr) c.760C>A (p.Pro254Thr) c.77-3619C>A (n.77-3619C>A) | |
16 | g.51141172G>A | CA495781167 | SALL1 | c.1050C>T (p.Thr350=) c.759C>T (p.Thr253=) c.77-3620C>T (n.77-3620C>T) | dbSNP |
16 | g.51141172G>C | CA495781168 | SALL1 | c.1050C>G (p.Thr350=) c.759C>G (p.Thr253=) c.77-3620C>G (n.77-3620C>G) | |
16 | g.51141172G= | CA2222021540 | SALL1 | c.1050C= (p.Thr350=) c.759C= (p.Thr253=) c.77-3620C= (n.77-3620C=) | |
16 | g.51141172G>T | CA495781169 | SALL1 | c.1050C>A (p.Thr350=) c.759C>A (p.Thr253=) c.77-3620C>A (n.77-3620C>A) | |
16 | g.51141173G>A | CA8053349 | SALL1 | c.1049C>T (p.Thr350Ile) c.758C>T (p.Thr253Ile) c.77-3621C>T (n.77-3621C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141173G>C | CA395889820 | SALL1 | c.1049C>G (p.Thr350Ser) c.758C>G (p.Thr253Ser) c.77-3621C>G (n.77-3621C>G) | |
16 | g.51141173G= | CA2222021545 | SALL1 | c.1049C= (p.Thr350=) c.758C= (p.Thr253=) c.77-3621C= (n.77-3621C=) | |
16 | g.51141173G>T | CA395889823 | SALL1 | c.1049C>A (p.Thr350Asn) c.758C>A (p.Thr253Asn) c.77-3621C>A (n.77-3621C>A) | |
16 | g.51141174T>A | CA395889825 | SALL1 | c.1048A>T (p.Thr350Ser) c.757A>T (p.Thr253Ser) c.77-3622A>T (n.77-3622A>T) | |
16 | g.51141174T>C | CA395889827 | SALL1 | c.1048A>G (p.Thr350Ala) c.757A>G (p.Thr253Ala) c.77-3622A>G (n.77-3622A>G) | |
16 | g.51141174T>G | CA395889829 | SALL1 | c.1048A>C (p.Thr350Pro) c.757A>C (p.Thr253Pro) c.77-3622A>C (n.77-3622A>C) | |
16 | g.51141175G>A | CA495781177 | SALL1 | c.1047C>T (p.Thr349=) c.756C>T (p.Thr252=) c.77-3623C>T (n.77-3623C>T) | |
16 | g.51141175G>C | CA495781176 | SALL1 | c.1047C>G (p.Thr349=) c.756C>G (p.Thr252=) c.77-3623C>G (n.77-3623C>G) | |
16 | g.51141175G>T | CA495781175 | SALL1 | c.1047C>A (p.Thr349=) c.756C>A (p.Thr252=) c.77-3623C>A (n.77-3623C>A) | |
16 | g.51141176dup | CA2695223393 | SALL1 | c.1047dup (p.Thr350HisfsTer5) c.756dup (p.Thr253HisfsTer5) c.77-3623dup (n.77-3623dup) | |
16 | g.51141176G>A | CA8053350 | SALL1 | c.1046C>T (p.Thr349Ile) c.755C>T (p.Thr252Ile) c.77-3624C>T (n.77-3624C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141176G>C | CA395889832 | SALL1 | c.1046C>G (p.Thr349Ser) c.755C>G (p.Thr252Ser) c.77-3624C>G (n.77-3624C>G) | gnomAD v4 |
16 | g.51141176G= | CA2222021548 | SALL1 | c.1046C= (p.Thr349=) c.755C= (p.Thr252=) c.77-3624C= (n.77-3624C=) | |
16 | g.51141176G>T | CA395889834 | SALL1 | c.1046C>A (p.Thr349Asn) c.755C>A (p.Thr252Asn) c.77-3624C>A (n.77-3624C>A) | |
16 | g.51141177T>A | CA395889838 | SALL1 | c.1045A>T (p.Thr349Ser) c.754A>T (p.Thr252Ser) c.77-3625A>T (n.77-3625A>T) | dbSNP gnomAD v4 |
16 | g.51141177T>C | CA395889845 | SALL1 | c.1045A>G (p.Thr349Ala) c.754A>G (p.Thr252Ala) c.77-3625A>G (n.77-3625A>G) | gnomAD v4 |
16 | g.51141177T>G | CA395889837 | SALL1 | c.1045A>C (p.Thr349Pro) c.754A>C (p.Thr252Pro) c.77-3625A>C (n.77-3625A>C) | |
16 | g.51141177T= | CA2222021551 | SALL1 | c.1045A= (p.Thr349=) c.754A= (p.Thr252=) c.77-3625A= (n.77-3625A=) | |
16 | g.51141177dup | CA2695223395 | SALL1 | c.1045dup (p.Thr349AsnfsTer6) c.754dup (p.Thr252AsnfsTer6) c.77-3625dup (n.77-3625dup) | |
16 | g.51141178A= | CA2222021553 | SALL1 | c.1044T= (p.Val348=) c.753T= (p.Val251=) c.77-3626T= (n.77-3626T=) | |
16 | g.51141178A>C | CA495781182 | SALL1 | c.1044T>G (p.Val348=) c.753T>G (p.Val251=) c.77-3626T>G (n.77-3626T>G) | |
16 | g.51141178A>G | CA495781180 | SALL1 | c.1044T>C (p.Val348=) c.753T>C (p.Val251=) c.77-3626T>C (n.77-3626T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141178A>T | CA495781178 | SALL1 | c.1044T>A (p.Val348=) c.753T>A (p.Val251=) c.77-3626T>A (n.77-3626T>A) | |
16 | g.51141179A= | CA2222021557 | SALL1 | c.1043T= (p.Val348=) c.752T= (p.Val251=) c.77-3627T= (n.77-3627T=) | |
16 | g.51141179A>C | CA395889847 | SALL1 | c.1043T>G (p.Val348Gly) c.752T>G (p.Val251Gly) c.77-3627T>G (n.77-3627T>G) | |
16 | g.51141179A>G | CA395889849 | SALL1 | c.1043T>C (p.Val348Ala) c.752T>C (p.Val251Ala) c.77-3627T>C (n.77-3627T>C) | |
16 | g.51141179A>T | CA395889853 | SALL1 | c.1043T>A (p.Val348Asp) c.752T>A (p.Val251Asp) c.77-3627T>A (n.77-3627T>A) | |
16 | g.51141179_51141180insACC | CA281302751 | SALL1 | c.1042_1043insGGT (p.Val348delinsGlyPhe) c.751_752insGGT (p.Val251delinsGlyPhe) c.77-3628_77-3627insGGT (n.77-3628_77-3627insGGT) | dbSNP |
16 | g.51141180C>A | CA395889859 | SALL1 | c.1042G>T (p.Val348Phe) c.751G>T (p.Val251Phe) c.77-3628G>T (n.77-3628G>T) | |
16 | g.51141180C= | CA2222021567 | SALL1 | c.1042G= (p.Val348=) c.751G= (p.Val251=) c.77-3628G= (n.77-3628G=) | |
16 | g.51141180C>G | CA395889858 | SALL1 | c.1042G>C (p.Val348Leu) c.751G>C (p.Val251Leu) c.77-3628G>C (n.77-3628G>C) | |
16 | g.51141180C>T | CA395889856 | SALL1 | c.1042G>A (p.Val348Ile) c.751G>A (p.Val251Ile) c.77-3628G>A (n.77-3628G>A) | dbSNP gnomAD v2 |
16 | g.51141181T>A | CA495781184 | SALL1 | c.1041A>T (p.Ala347=) c.750A>T (p.Ala250=) c.77-3629A>T (n.77-3629A>T) | |
16 | g.51141181T>C | CA495781186 | SALL1 | c.1041A>G (p.Ala347=) c.750A>G (p.Ala250=) c.77-3629A>G (n.77-3629A>G) |