| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.108210706C>A | CA388621331 | LIG4 | c.362G>T (p.Arg121Leu) c.563G>T (p.Arg188Leu) c.599G>T (p.Arg200Leu) c.575G>T (p.Arg192Leu) | |
| 13 | g.108210706C= | CA2117794739 | LIG4 | c.362G= (p.Arg121=) c.563G= (p.Arg188=) c.599G= (p.Arg200=) c.575G= (p.Arg192=) | |
| 13 | g.108210706C>G | CA388621333 | LIG4 | c.362G>C (p.Arg121Pro) c.563G>C (p.Arg188Pro) c.599G>C (p.Arg200Pro) c.575G>C (p.Arg192Pro) | |
| 13 | g.108210706C>T | CA7043827 | LIG4 | c.362G>A (p.Arg121Gln) c.563G>A (p.Arg188Gln) c.599G>A (p.Arg200Gln) c.575G>A (p.Arg192Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108210707G>A | CA388621334 | LIG4 | c.361C>T (p.Arg121Trp) c.562C>T (p.Arg188Trp) c.598C>T (p.Arg200Trp) c.574C>T (p.Arg192Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108210707G>C | CA388621336 | LIG4 | c.361C>G (p.Arg121Gly) c.562C>G (p.Arg188Gly) c.598C>G (p.Arg200Gly) c.574C>G (p.Arg192Gly) | |
| 13 | g.108210707G= | CA2117794740 | LIG4 | c.361C= (p.Arg121=) c.562C= (p.Arg188=) c.598C= (p.Arg200=) c.574C= (p.Arg192=) | |
| 13 | g.108210707G>T | CA484976121 | LIG4 | c.361C>A (p.Arg121=) c.562C>A (p.Arg188=) c.598C>A (p.Arg200=) c.574C>A (p.Arg192=) | |
| 13 | g.108210708T>A | CA484976124 | LIG4 | c.360A>T (p.Ile120=) c.561A>T (p.Ile187=) c.597A>T (p.Ile199=) c.573A>T (p.Ile191=) | |
| 13 | g.108210708T>C | CA388621338 | LIG4 | c.360A>G (p.Ile120Met) c.561A>G (p.Ile187Met) c.597A>G (p.Ile199Met) c.573A>G (p.Ile191Met) | gnomAD v4 |
| 13 | g.108210708T>G | CA484976122 | LIG4 | c.360A>C (p.Ile120=) c.561A>C (p.Ile187=) c.597A>C (p.Ile199=) c.573A>C (p.Ile191=) | |
| 13 | g.108210709A= | CA2117794741 | LIG4 | c.359T= (p.Ile120=) c.560T= (p.Ile187=) c.596T= (p.Ile199=) c.572T= (p.Ile191=) | |
| 13 | g.108210709A>C | CA7043828 | LIG4 | c.359T>G (p.Ile120Arg) c.560T>G (p.Ile187Arg) c.596T>G (p.Ile199Arg) c.572T>G (p.Ile191Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108210709A>G | CA7043829 | LIG4 | c.359T>C (p.Ile120Thr) c.560T>C (p.Ile187Thr) c.596T>C (p.Ile199Thr) c.572T>C (p.Ile191Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108210709A>T | CA388621340 | LIG4 | c.359T>A (p.Ile120Lys) c.560T>A (p.Ile187Lys) c.596T>A (p.Ile199Lys) c.572T>A (p.Ile191Lys) | |
| 13 | g.108210710T>A | CA388621343 | LIG4 | c.358A>T (p.Ile120Leu) c.559A>T (p.Ile187Leu) c.595A>T (p.Ile199Leu) c.571A>T (p.Ile191Leu) | gnomAD v4 |
| 13 | g.108210710T>C | CA388621345 | LIG4 | c.358A>G (p.Ile120Val) c.559A>G (p.Ile187Val) c.595A>G (p.Ile199Val) c.571A>G (p.Ile191Val) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108210710T>G | CA388621347 | LIG4 | c.358A>C (p.Ile120Leu) c.559A>C (p.Ile187Leu) c.595A>C (p.Ile199Leu) c.571A>C (p.Ile191Leu) | |
| 13 | g.108210710T= | CA2117794742 | LIG4 | c.358A= (p.Ile120=) c.559A= (p.Ile187=) c.595A= (p.Ile199=) c.571A= (p.Ile191=) | |
| 13 | g.108210712_108210713insCCTAACCCTAACCCTAACCCTAACCCTAA | CA2623644554 | LIG4 | c.358_359insGGGTTAGGGTTAGGGTTAGGGTTAGGTTA (p.Ile120ArgfsTer13) c.559_560insGGGTTAGGGTTAGGGTTAGGGTTAGGTTA (p.Ile187ArgfsTer13) c.595_596insGGGTTAGGGTTAGGGTTAGGGTTAGGTTA (p.Ile199ArgfsTer13) c.571_572insGGGTTAGGGTTAGGGTTAGGGTTAGGTTA (p.Ile191ArgfsTer13) | gnomAD v4 |
| 13 | g.108210711A>C | CA484976130 | LIG4 | c.357T>G (p.Leu119=) c.558T>G (p.Leu186=) c.594T>G (p.Leu198=) c.570T>G (p.Leu190=) | |
| 13 | g.108210711A>G | CA484976129 | LIG4 | c.357T>C (p.Leu119=) c.558T>C (p.Leu186=) c.594T>C (p.Leu198=) c.570T>C (p.Leu190=) | |
| 13 | g.108210711A>T | CA484976126 | LIG4 | c.357T>A (p.Leu119=) c.558T>A (p.Leu186=) c.594T>A (p.Leu198=) c.570T>A (p.Leu190=) | |
| 13 | g.108210712A>C | CA388621353 | LIG4 | c.356T>G (p.Leu119Arg) c.557T>G (p.Leu186Arg) c.593T>G (p.Leu198Arg) c.569T>G (p.Leu190Arg) | |
| 13 | g.108210712A>G | CA388621349 | LIG4 | c.356T>C (p.Leu119Pro) c.557T>C (p.Leu186Pro) c.593T>C (p.Leu198Pro) c.569T>C (p.Leu190Pro) | |
| 13 | g.108210712A>T | CA388621351 | LIG4 | c.356T>A (p.Leu119His) c.557T>A (p.Leu186His) c.593T>A (p.Leu198His) c.569T>A (p.Leu190His) | |
| 13 | g.108210713G>A | CA388621356 | LIG4 | c.355C>T (p.Leu119Phe) c.556C>T (p.Leu186Phe) c.592C>T (p.Leu198Phe) c.568C>T (p.Leu190Phe) | |
| 13 | g.108210713G>C | CA388621358 | LIG4 | c.355C>G (p.Leu119Val) c.556C>G (p.Leu186Val) c.592C>G (p.Leu198Val) c.568C>G (p.Leu190Val) | gnomAD v4 |
| 13 | g.108210713G>T | CA388621360 | LIG4 | c.355C>A (p.Leu119Ile) c.556C>A (p.Leu186Ile) c.592C>A (p.Leu198Ile) c.568C>A (p.Leu190Ile) | |
| 13 | g.108210714C>A | CA388621362 | LIG4 | c.354G>T (p.Trp118Cys) c.555G>T (p.Trp185Cys) c.591G>T (p.Trp197Cys) c.567G>T (p.Trp189Cys) | |
| 13 | g.108210714C>G | CA388621364 | LIG4 | c.354G>C (p.Trp118Cys) c.555G>C (p.Trp185Cys) c.591G>C (p.Trp197Cys) c.567G>C (p.Trp189Cys) | |
| 13 | g.108210714C>T | CA388621365 | LIG4 | c.354G>A (p.Trp118Ter) c.555G>A (p.Trp185Ter) c.591G>A (p.Trp197Ter) c.567G>A (p.Trp189Ter) | |
| 13 | g.108210715C>A | CA388621368 | LIG4 | c.353G>T (p.Trp118Leu) c.554G>T (p.Trp185Leu) c.590G>T (p.Trp197Leu) c.566G>T (p.Trp189Leu) | |
| 13 | g.108210715C>G | CA388621370 | LIG4 | c.353G>C (p.Trp118Ser) c.554G>C (p.Trp185Ser) c.590G>C (p.Trp197Ser) c.566G>C (p.Trp189Ser) | |
| 13 | g.108210715C>T | CA388621372 | LIG4 | c.353G>A (p.Trp118Ter) c.554G>A (p.Trp185Ter) c.590G>A (p.Trp197Ter) c.566G>A (p.Trp189Ter) | |
| 13 | g.108210716A= | CA2117794743 | LIG4 | c.352T= (p.Trp118=) c.553T= (p.Trp185=) c.589T= (p.Trp197=) c.565T= (p.Trp189=) | |
| 13 | g.108210716A>C | CA388621375 | LIG4 | c.352T>G (p.Trp118Gly) c.553T>G (p.Trp185Gly) c.589T>G (p.Trp197Gly) c.565T>G (p.Trp189Gly) | |
| 13 | g.108210716A>G | CA388621377 | LIG4 | c.352T>C (p.Trp118Arg) c.553T>C (p.Trp185Arg) c.589T>C (p.Trp197Arg) c.565T>C (p.Trp189Arg) | dbSNP gnomAD v2 |
| 13 | g.108210716A>T | CA388621379 | LIG4 | c.352T>A (p.Trp118Arg) c.553T>A (p.Trp185Arg) c.589T>A (p.Trp197Arg) c.565T>A (p.Trp189Arg) | |
| 13 | g.108210717C>A | CA388621381 | LIG4 | c.351G>T (p.Lys117Asn) c.552G>T (p.Lys184Asn) c.588G>T (p.Lys196Asn) c.564G>T (p.Lys188Asn) | |
| 13 | g.108210717C>G | CA388621383 | LIG4 | c.351G>C (p.Lys117Asn) c.552G>C (p.Lys184Asn) c.588G>C (p.Lys196Asn) c.564G>C (p.Lys188Asn) | |
| 13 | g.108210717C>T | CA484976138 | LIG4 | c.351G>A (p.Lys117=) c.552G>A (p.Lys184=) c.588G>A (p.Lys196=) c.564G>A (p.Lys188=) | |
| 13 | g.108210718T>A | CA388621384 | LIG4 | c.350A>T (p.Lys117Met) c.551A>T (p.Lys184Met) c.587A>T (p.Lys196Met) c.563A>T (p.Lys188Met) | |
| 13 | g.108210718T>C | CA388621388 | LIG4 | c.350A>G (p.Lys117Arg) c.551A>G (p.Lys184Arg) c.587A>G (p.Lys196Arg) c.563A>G (p.Lys188Arg) | |
| 13 | g.108210718T>G | CA388621386 | LIG4 | c.350A>C (p.Lys117Thr) c.551A>C (p.Lys184Thr) c.587A>C (p.Lys196Thr) c.563A>C (p.Lys188Thr) | |
| 13 | g.108210719T>A | CA388621390 | LIG4 | c.349A>T (p.Lys117Ter) c.550A>T (p.Lys184Ter) c.586A>T (p.Lys196Ter) c.562A>T (p.Lys188Ter) | |
| 13 | g.108210719T>C | CA388621394 | LIG4 | c.349A>G (p.Lys117Glu) c.550A>G (p.Lys184Glu) c.586A>G (p.Lys196Glu) c.562A>G (p.Lys188Glu) | |
| 13 | g.108210719T>G | CA388621392 | LIG4 | c.349A>C (p.Lys117Gln) c.550A>C (p.Lys184Gln) c.586A>C (p.Lys196Gln) c.562A>C (p.Lys188Gln) | |
| 13 | g.108210720T>A | CA388621396 | LIG4 | c.348A>T (p.Gln116His) c.549A>T (p.Gln183His) c.585A>T (p.Gln195His) c.561A>T (p.Gln187His) | |
| 13 | g.108210720T>C | CA484976142 | LIG4 | c.348A>G (p.Gln116=) c.549A>G (p.Gln183=) c.585A>G (p.Gln195=) c.561A>G (p.Gln187=) |