| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.35575803T>A | CA399136793 | PEX12 | c.1059A>T (p.Lys353Asn) | |
| 17 | g.35575803T>C | CA499903278 | PEX12 | c.1059A>G (p.Lys353=) | |
| 17 | g.35575803T>G | CA399136794 | PEX12 | c.1059A>C (p.Lys353Asn) | |
| 17 | g.35575804T>A | CA399136795 | PEX12 | c.1058A>T (p.Lys353Ile) | |
| 17 | g.35575804T>C | CA399136796 | PEX12 | c.1058A>G (p.Lys353Arg) | |
| 17 | g.35575804T>G | CA399136797 | PEX12 | c.1058A>C (p.Lys353Thr) | |
| 17 | g.35575805T>A | CA399136798 | PEX12 | c.1057A>T (p.Lys353Ter) | |
| 17 | g.35575805T>C | CA399136800 | PEX12 | c.1057A>G (p.Lys353Glu) | |
| 17 | g.35575805T>G | CA399136799 | PEX12 | c.1057A>C (p.Lys353Gln) | |
| 17 | g.35575806A>C | CA399136801 | PEX12 | c.1056T>G (p.Ile352Met) | |
| 17 | g.35575806A>G | CA499903279 | PEX12 | c.1056T>C (p.Ile352=) | |
| 17 | g.35575806A>T | CA499903280 | PEX12 | c.1056T>A (p.Ile352=) | gnomAD v4 |
| 17 | g.35575807A>C | CA399136804 | PEX12 | c.1055T>G (p.Ile352Ser) | |
| 17 | g.35575807A>G | CA399136802 | PEX12 | c.1055T>C (p.Ile352Thr) | |
| 17 | g.35575807A>T | CA399136803 | PEX12 | c.1055T>A (p.Ile352Asn) | |
| 17 | g.35575808T>A | CA399136805 | PEX12 | c.1054A>T (p.Ile352Phe) | |
| 17 | g.35575808T>C | CA399136806 | PEX12 | c.1054A>G (p.Ile352Val) | |
| 17 | g.35575808T>G | CA399136807 | PEX12 | c.1054A>C (p.Ile352Leu) | |
| 17 | g.35575809C>A | CA499903281 | PEX12 | c.1053G>T (p.Leu351=) | |
| 17 | g.35575809C>G | CA499903282 | PEX12 | c.1053G>C (p.Leu351=) | |
| 17 | g.35575809C>T | CA499903283 | PEX12 | c.1053G>A (p.Leu351=) | gnomAD v4 |
| 17 | g.35575810A>C | CA399136808 | PEX12 | c.1052T>G (p.Leu351Arg) | |
| 17 | g.35575810A>G | CA399136809 | PEX12 | c.1052T>C (p.Leu351Pro) | |
| 17 | g.35575810A>T | CA399136810 | PEX12 | c.1052T>A (p.Leu351Gln) | gnomAD v4 |
| 17 | g.35575811G>A | CA8504801 | PEX12 | c.1051C>T (p.Leu351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.35575811G>C | CA399136811 | PEX12 | c.1051C>G (p.Leu351Val) | |
| 17 | g.35575811G= | CA2257586236 | PEX12 | c.1051C= (p.Leu351=) | |
| 17 | g.35575811G>T | CA399136812 | PEX12 | c.1051C>A (p.Leu351Met) | COSMIC |
| 17 | g.35575812A= | CA2257586242 | PEX12 | c.1050T= (p.His350=) | |
| 17 | g.35575812A>C | CA399136813 | PEX12 | c.1050T>G (p.His350Gln) | |
| 17 | g.35575812A>G | CA499903284 | PEX12 | c.1050T>C (p.His350=) | |
| 17 | g.35575812A>T | CA399136814 | PEX12 | c.1050T>A (p.His350Gln) | dbSNP gnomAD v2 |
| 17 | g.35575812_35575815del | CA913002496 | PEX12 | c.1047_1050del (p.Gln349HisfsTer2) | |
| 17 | g.35575812_35575815delinsATGT | CA2257586240 | PEX12 | c.1047_1050delinsACAT (p.Gln349=) | |
| 17 | g.35575813T>A | CA399136815 | PEX12 | c.1049A>T (p.His350Leu) | |
| 17 | g.35575813T>C | CA399136817 | PEX12 | c.1049A>G (p.His350Arg) | |
| 17 | g.35575813T>G | CA399136816 | PEX12 | c.1049A>C (p.His350Pro) | |
| 17 | g.35575816_35575818del | CA290068069 | PEX12 | c.1047_1049del (p.Gln349del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35575814G>A | CA399136818 | PEX12 | c.1048C>T (p.His350Tyr) | |
| 17 | g.35575814G>C | CA399136819 | PEX12 | c.1048C>G (p.His350Asp) | |
| 17 | g.35575814G>T | CA399136820 | PEX12 | c.1048C>A (p.His350Asn) | gnomAD v4 |
| 17 | g.35575815T>A | CA399136821 | PEX12 | c.1047A>T (p.Gln349His) | |
| 17 | g.35575815T>C | CA290068076 | PEX12 | c.1047A>G (p.Gln349=) | dbSNP gnomAD v4 |
| 17 | g.35575815T>G | CA399136822 | PEX12 | c.1047A>C (p.Gln349His) | |
| 17 | g.35575815T= | CA2257586255 | PEX12 | c.1047A= (p.Gln349=) | |
| 17 | g.35575816T>A | CA399136823 | PEX12 | c.1046A>T (p.Gln349Leu) | |
| 17 | g.35575816T>C | CA399136824 | PEX12 | c.1046A>G (p.Gln349Arg) | |
| 17 | g.35575816T>G | CA399136825 | PEX12 | c.1046A>C (p.Gln349Pro) | |
| 17 | g.35575817G>A | CA399136827 | PEX12 | c.1045C>T (p.Gln349Ter) | |
| 17 | g.35575817G>C | CA399136828 | PEX12 | c.1045C>G (p.Gln349Glu) | dbSNP gnomAD v3 gnomAD v4 |