Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51141166_51141168del | CA2633181822 | SALL1 | c.1056_1058del (p.Ser353del) c.765_767del (p.Ser256del) c.77-3614_77-3612del (n.77-3614_77-3612del) | gnomAD v4 |
16 | g.51141165A= | CA2222021523 | SALL1 | c.1057T= (p.Ser353=) c.766T= (p.Ser256=) c.77-3613T= (n.77-3613T=) | |
16 | g.51141165A>C | CA395889779 | SALL1 | c.1057T>G (p.Ser353Ala) c.766T>G (p.Ser256Ala) c.77-3613T>G (n.77-3613T>G) | |
16 | g.51141165A>G | CA395889781 | SALL1 | c.1057T>C (p.Ser353Pro) c.766T>C (p.Ser256Pro) c.77-3613T>C (n.77-3613T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51141165A>T | CA395889784 | SALL1 | c.1057T>A (p.Ser353Thr) c.766T>A (p.Ser256Thr) c.77-3613T>A (n.77-3613T>A) | |
16 | g.51141166G>A | CA8053345 | SALL1 | c.1056C>T (p.Ser352=) c.765C>T (p.Ser255=) c.77-3614C>T (n.77-3614C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51141166G>C | CA495781161 | SALL1 | c.1056C>G (p.Ser352=) c.765C>G (p.Ser255=) c.77-3614C>G (n.77-3614C>G) | |
16 | g.51141166G= | CA2222021525 | SALL1 | c.1056C= (p.Ser352=) c.765C= (p.Ser255=) c.77-3614C= (n.77-3614C=) | |
16 | g.51141166G>T | CA495781162 | SALL1 | c.1056C>A (p.Ser352=) c.765C>A (p.Ser255=) c.77-3614C>A (n.77-3614C>A) | |
16 | g.51141167G>A | CA8053346 | SALL1 | c.1055C>T (p.Ser352Phe) c.764C>T (p.Ser255Phe) c.77-3615C>T (n.77-3615C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51141167G>C | CA8053347 | SALL1 | c.1055C>G (p.Ser352Cys) c.764C>G (p.Ser255Cys) c.77-3615C>G (n.77-3615C>G) | dbSNP ExAC |
16 | g.51141167G= | CA2222021529 | SALL1 | c.1055C= (p.Ser352=) c.764C= (p.Ser255=) c.77-3615C= (n.77-3615C=) | |
16 | g.51141167G>T | CA395889792 | SALL1 | c.1055C>A (p.Ser352Tyr) c.764C>A (p.Ser255Tyr) c.77-3615C>A (n.77-3615C>A) | gnomAD v4 |
16 | g.51141168A>C | CA395889801 | SALL1 | c.1054T>G (p.Ser352Ala) c.763T>G (p.Ser255Ala) c.77-3616T>G (n.77-3616T>G) | |
16 | g.51141168A>G | CA395889802 | SALL1 | c.1054T>C (p.Ser352Pro) c.763T>C (p.Ser255Pro) c.77-3616T>C (n.77-3616T>C) | gnomAD v4 |
16 | g.51141168A>T | CA395889805 | SALL1 | c.1054T>A (p.Ser352Thr) c.763T>A (p.Ser255Thr) c.77-3616T>A (n.77-3616T>A) | gnomAD v4 |
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=) |