| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.108211145del | CA2695218926 | LIG4 | c.-74del (n.-74del) c.128del (p.Leu43Ter) c.164del (p.Leu55Ter) c.140del (p.Leu47Ter) | |
| 13 | g.108211143A>C | CA388624432 | LIG4 | c.-76T>G (n.-76T>G) c.126T>G (p.Phe42Leu) c.162T>G (p.Phe54Leu) c.138T>G (p.Phe46Leu) | |
| 13 | g.108211143A>G | CA484976301 | LIG4 | c.-76T>C (n.-76T>C) c.126T>C (p.Phe42=) c.162T>C (p.Phe54=) c.138T>C (p.Phe46=) | |
| 13 | g.108211143A>T | CA388624433 | LIG4 | c.-76T>A (n.-76T>A) c.126T>A (p.Phe42Leu) c.162T>A (p.Phe54Leu) c.138T>A (p.Phe46Leu) | |
| 13 | g.108211144A= | CA2117794894 | LIG4 | c.-77T= (n.-77T=) c.125T= (p.Phe42=) c.161T= (p.Phe54=) c.137T= (p.Phe46=) | |
| 13 | g.108211144A>C | CA388624434 | LIG4 | c.-77T>G (n.-77T>G) c.125T>G (p.Phe42Cys) c.161T>G (p.Phe54Cys) c.137T>G (p.Phe46Cys) | |
| 13 | g.108211144A>G | CA388624436 | LIG4 | c.-77T>C (n.-77T>C) c.125T>C (p.Phe42Ser) c.161T>C (p.Phe54Ser) c.137T>C (p.Phe46Ser) | |
| 13 | g.108211144A>T | CA388624437 | LIG4 | c.-77T>A (n.-77T>A) c.125T>A (p.Phe42Tyr) c.161T>A (p.Phe54Tyr) c.137T>A (p.Phe46Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108211145A= | CA2117794895 | LIG4 | c.-78T= (n.-78T=) c.124T= (p.Phe42=) c.160T= (p.Phe54=) c.136T= (p.Phe46=) | |
| 13 | g.108211145A>C | CA388624445 | LIG4 | c.-78T>G (n.-78T>G) c.124T>G (p.Phe42Val) c.160T>G (p.Phe54Val) c.136T>G (p.Phe46Val) | |
| 13 | g.108211145A>G | CA388624440 | LIG4 | c.-78T>C (n.-78T>C) c.124T>C (p.Phe42Leu) c.160T>C (p.Phe54Leu) c.136T>C (p.Phe46Leu) | dbSNP |
| 13 | g.108211145A>T | CA388624443 | LIG4 | c.-78T>A (n.-78T>A) c.124T>A (p.Phe42Ile) c.160T>A (p.Phe54Ile) c.136T>A (p.Phe46Ile) | |
| 13 | g.108211146T>A | CA388624448 | LIG4 | c.-79A>T (n.-79A>T) c.123A>T (p.Glu41Asp) c.159A>T (p.Glu53Asp) c.135A>T (p.Glu45Asp) | |
| 13 | g.108211146T>C | CA484976303 | LIG4 | c.-79A>G (n.-79A>G) c.123A>G (p.Glu41=) c.159A>G (p.Glu53=) c.135A>G (p.Glu45=) | |
| 13 | g.108211146T>G | CA388624449 | LIG4 | c.-79A>C (n.-79A>C) c.123A>C (p.Glu41Asp) c.159A>C (p.Glu53Asp) c.135A>C (p.Glu45Asp) | |
| 13 | g.108211147T>A | CA388624452 | LIG4 | c.-80A>T (n.-80A>T) c.122A>T (p.Glu41Val) c.158A>T (p.Glu53Val) c.134A>T (p.Glu45Val) | |
| 13 | g.108211147T>C | CA388624455 | LIG4 | c.-80A>G (n.-80A>G) c.122A>G (p.Glu41Gly) c.158A>G (p.Glu53Gly) c.134A>G (p.Glu45Gly) | |
| 13 | g.108211147T>G | CA388624456 | LIG4 | c.-80A>C (n.-80A>C) c.122A>C (p.Glu41Ala) c.158A>C (p.Glu53Ala) c.134A>C (p.Glu45Ala) | |
| 13 | g.108211148C>A | CA388624459 | LIG4 | c.-81G>T (n.-81G>T) c.121G>T (p.Glu41Ter) c.157G>T (p.Glu53Ter) c.133G>T (p.Glu45Ter) | |
| 13 | g.108211148C>G | CA388624464 | LIG4 | c.-81G>C (n.-81G>C) c.121G>C (p.Glu41Gln) c.157G>C (p.Glu53Gln) c.133G>C (p.Glu45Gln) | |
| 13 | g.108211148C>T | CA388624461 | LIG4 | c.-81G>A (n.-81G>A) c.121G>A (p.Glu41Lys) c.157G>A (p.Glu53Lys) c.133G>A (p.Glu45Lys) | |
| 13 | g.108211149C>A | CA388624466 | LIG4 | c.-82G>T (n.-82G>T) c.120G>T (p.Arg40Ser) c.156G>T (p.Arg52Ser) c.132G>T (p.Arg44Ser) | |
| 13 | g.108211149C>G | CA388624469 | LIG4 | c.-82G>C (n.-82G>C) c.120G>C (p.Arg40Ser) c.156G>C (p.Arg52Ser) c.132G>C (p.Arg44Ser) | |
| 13 | g.108211149C>T | CA484976307 | LIG4 | c.-82G>A (n.-82G>A) c.120G>A (p.Arg40=) c.156G>A (p.Arg52=) c.132G>A (p.Arg44=) | |
| 13 | g.108211150C>A | CA388624472 | LIG4 | c.-83G>T (n.-83G>T) c.119G>T (p.Arg40Met) c.155G>T (p.Arg52Met) c.131G>T (p.Arg44Met) | |
| 13 | g.108211150C>G | CA388624474 | LIG4 | c.-83G>C (n.-83G>C) c.119G>C (p.Arg40Thr) c.155G>C (p.Arg52Thr) c.131G>C (p.Arg44Thr) | |
| 13 | g.108211150C>T | CA388624477 | LIG4 | c.-83G>A (n.-83G>A) c.119G>A (p.Arg40Lys) c.155G>A (p.Arg52Lys) c.131G>A (p.Arg44Lys) | gnomAD v3 gnomAD v4 |
| 13 | g.108211151T>A | CA388624479 | LIG4 | c.-84A>T (n.-84A>T) c.118A>T (p.Arg40Trp) c.154A>T (p.Arg52Trp) c.130A>T (p.Arg44Trp) | |
| 13 | g.108211151T>C | CA388624480 | LIG4 | c.-84A>G (n.-84A>G) c.118A>G (p.Arg40Gly) c.154A>G (p.Arg52Gly) c.130A>G (p.Arg44Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108211151T>G | CA484976308 | LIG4 | c.-84A>C (n.-84A>C) c.118A>C (p.Arg40=) c.154A>C (p.Arg52=) c.130A>C (p.Arg44=) | |
| 13 | g.108211151T= | CA2117794896 | LIG4 | c.-84A= (n.-84A=) c.118A= (p.Arg40=) c.154A= (p.Arg52=) c.130A= (p.Arg44=) | |
| 13 | g.108211152G>A | CA484976309 | LIG4 | c.-85C>T (n.-85C>T) c.117C>T (p.Phe39=) c.153C>T (p.Phe51=) c.129C>T (p.Phe43=) | COSMIC |
| 13 | g.108211152G>C | CA388624482 | LIG4 | c.-85C>G (n.-85C>G) c.117C>G (p.Phe39Leu) c.153C>G (p.Phe51Leu) c.129C>G (p.Phe43Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108211152G= | CA2117794897 | LIG4 | c.-85C= (n.-85C=) c.117C= (p.Phe39=) c.153C= (p.Phe51=) c.129C= (p.Phe43=) | |
| 13 | g.108211152G>T | CA388624483 | LIG4 | c.-85C>A (n.-85C>A) c.117C>A (p.Phe39Leu) c.153C>A (p.Phe51Leu) c.129C>A (p.Phe43Leu) | ClinVar dbSNP |
| 13 | g.108211153A>C | CA388624486 | LIG4 | c.-86T>G (n.-86T>G) c.116T>G (p.Phe39Cys) c.152T>G (p.Phe51Cys) c.128T>G (p.Phe43Cys) | ClinVar |
| 13 | g.108211153A>G | CA388624489 | LIG4 | c.-86T>C (n.-86T>C) c.116T>C (p.Phe39Ser) c.152T>C (p.Phe51Ser) c.128T>C (p.Phe43Ser) | |
| 13 | g.108211153A>T | CA388624492 | LIG4 | c.-86T>A (n.-86T>A) c.116T>A (p.Phe39Tyr) c.152T>A (p.Phe51Tyr) c.128T>A (p.Phe43Tyr) | |
| 13 | g.108211154A>C | CA388624497 | LIG4 | c.-87T>G (n.-87T>G) c.115T>G (p.Phe39Val) c.151T>G (p.Phe51Val) c.127T>G (p.Phe43Val) | gnomAD v4 |
| 13 | g.108211154A>G | CA388624494 | LIG4 | c.-87T>C (n.-87T>C) c.115T>C (p.Phe39Leu) c.151T>C (p.Phe51Leu) c.127T>C (p.Phe43Leu) | |
| 13 | g.108211154A>T | CA388624496 | LIG4 | c.-87T>A (n.-87T>A) c.115T>A (p.Phe39Ile) c.151T>A (p.Phe51Ile) c.127T>A (p.Phe43Ile) | |
| 13 | g.108211155G>A | CA484976311 | LIG4 | c.-88C>T (n.-88C>T) c.114C>T (p.His38=) c.150C>T (p.His50=) c.126C>T (p.His42=) | |
| 13 | g.108211155G>C | CA388624498 | LIG4 | c.-88C>G (n.-88C>G) c.114C>G (p.His38Gln) c.150C>G (p.His50Gln) c.126C>G (p.His42Gln) | |
| 13 | g.108211155G>T | CA388624499 | LIG4 | c.-88C>A (n.-88C>A) c.114C>A (p.His38Gln) c.150C>A (p.His50Gln) c.126C>A (p.His42Gln) | |
| 13 | g.108211156T>A | CA388624501 | LIG4 | c.-89A>T (n.-89A>T) c.113A>T (p.His38Leu) c.149A>T (p.His50Leu) c.125A>T (p.His42Leu) | |
| 13 | g.108211156T>C | CA388624503 | LIG4 | c.-89A>G (n.-89A>G) c.113A>G (p.His38Arg) c.149A>G (p.His50Arg) c.125A>G (p.His42Arg) | |
| 13 | g.108211156T>G | CA388624505 | LIG4 | c.-89A>C (n.-89A>C) c.113A>C (p.His38Pro) c.149A>C (p.His50Pro) c.125A>C (p.His42Pro) | |
| 13 | g.108211157G>A | CA388624508 | LIG4 | c.-90C>T (n.-90C>T) c.112C>T (p.His38Tyr) c.148C>T (p.His50Tyr) c.124C>T (p.His42Tyr) | gnomAD v4 |
| 13 | g.108211157G>C | CA388624513 | LIG4 | c.-90C>G (n.-90C>G) c.112C>G (p.His38Asp) c.148C>G (p.His50Asp) c.124C>G (p.His42Asp) | |
| 13 | g.108211157G>T | CA388624515 | LIG4 | c.-90C>A (n.-90C>A) c.112C>A (p.His38Asn) c.148C>A (p.His50Asn) c.124C>A (p.His42Asn) |