Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.35577446_35577450delinsCTCTT | CA2257561984 | PEX12 | c.268_272delinsAAGAG (p.Lys90=) | |
17 | g.35577448_35577451del | CA8504933 | PEX12 | c.268_271del (p.Lys90GlufsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577448C>A | CA399138492 | PEX12 | c.270G>T (p.Lys90Asn) | |
17 | g.35577448C>G | CA399138493 | PEX12 | c.270G>C (p.Lys90Asn) | |
17 | g.35577448C>T | CA499903584 | PEX12 | c.270G>A (p.Lys90=) | |
17 | g.35577449T>A | CA399138494 | PEX12 | c.269A>T (p.Lys90Met) | |
17 | g.35577449T>C | CA399138496 | PEX12 | c.269A>G (p.Lys90Arg) | |
17 | g.35577449T>G | CA399138495 | PEX12 | c.269A>C (p.Lys90Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.35577449T= | CA2257561986 | PEX12 | c.269A= (p.Lys90=) | |
17 | g.35577450_35577451del | CA2576233679 | PEX12 | c.268_269del (p.Lys90GlufsTer15) | ClinVar gnomAD v4 |
17 | g.35577450T>A | CA399138497 | PEX12 | c.268A>T (p.Lys90Ter) | |
17 | g.35577450T>C | CA399138498 | PEX12 | c.268A>G (p.Lys90Glu) | |
17 | g.35577450T>G | CA399138499 | PEX12 | c.268A>C (p.Lys90Gln) | |
17 | g.35577451T>A | CA399138500 | PEX12 | c.267A>T (p.Leu89Phe) | |
17 | g.35577451T>C | CA499903588 | PEX12 | c.267A>G (p.Leu89=) | |
17 | g.35577451T>G | CA399138501 | PEX12 | c.267A>C (p.Leu89Phe) | |
17 | g.35577452A>C | CA399138502 | PEX12 | c.266T>G (p.Leu89Ter) | |
17 | g.35577452A>G | CA399138503 | PEX12 | c.266T>C (p.Leu89Ser) | |
17 | g.35577452A>T | CA399138504 | PEX12 | c.266T>A (p.Leu89Ter) | |
17 | g.35577453A>C | CA399138505 | PEX12 | c.265T>G (p.Leu89Val) | gnomAD v4 |
17 | g.35577453A>G | CA499903592 | PEX12 | c.265T>C (p.Leu89=) | |
17 | g.35577453A>T | CA399138506 | PEX12 | c.265T>A (p.Leu89Ile) | |
17 | g.35577454G>A | CA499903593 | PEX12 | c.264C>T (p.Gly88=) | |
17 | g.35577454G>C | CA499903595 | PEX12 | c.264C>G (p.Gly88=) | |
17 | g.35577454G>T | CA499903597 | PEX12 | c.264C>A (p.Gly88=) | |
17 | g.35577455C>A | CA399138508 | PEX12 | c.263G>T (p.Gly88Val) | |
17 | g.35577455C= | CA2257561987 | PEX12 | c.263G= (p.Gly88=) | |
17 | g.35577455C>G | CA399138509 | PEX12 | c.263G>C (p.Gly88Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577455C>T | CA399138507 | PEX12 | c.263G>A (p.Gly88Asp) | |
17 | g.35577456C>A | CA399138510 | PEX12 | c.262G>T (p.Gly88Cys) | |
17 | g.35577456C= | CA2257561988 | PEX12 | c.262G= (p.Gly88=) | |
17 | g.35577456C>G | CA399138511 | PEX12 | c.262G>C (p.Gly88Arg) | |
17 | g.35577456C>T | CA399138512 | PEX12 | c.262G>A (p.Gly88Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577457G>A | CA8504934 | PEX12 | c.261C>T (p.Tyr87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577457G>C | CA8504935 | PEX12 | c.261C>G (p.Tyr87Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.35577457G= | CA2257561989 | PEX12 | c.261C= (p.Tyr87=) | |
17 | g.35577457G>T | CA399138513 | PEX12 | c.261C>A (p.Tyr87Ter) | |
17 | g.35577458T>A | CA399138514 | PEX12 | c.260A>T (p.Tyr87Phe) | |
17 | g.35577458T>C | CA399138516 | PEX12 | c.260A>G (p.Tyr87Cys) | |
17 | g.35577458T>G | CA399138515 | PEX12 | c.260A>C (p.Tyr87Ser) | |
17 | g.35577458_35577459insTT | CA290069664 | PEX12 | c.260_261insAA (p.Tyr87Ter) | ClinVar dbSNP |
17 | g.35577458_35577460delinsTAA | CA2257561990 | PEX12 | c.258_260delinsTTA (p.Phe86=) | |
17 | g.35577459A>C | CA399138517 | PEX12 | c.259T>G (p.Tyr87Asp) | |
17 | g.35577459A>G | CA399138518 | PEX12 | c.259T>C (p.Tyr87His) | COSMIC |
17 | g.35577459A>T | CA399138519 | PEX12 | c.259T>A (p.Tyr87Asn) | |
17 | g.35577461_35577462del | CA8504936 | PEX12 | c.258_259del (p.Phe86LeufsTer19) | dbSNP ExAC gnomAD v2 |
17 | g.35577460A= | CA2257561991 | PEX12 | c.258T= (p.Phe86=) | |
17 | g.35577460A>C | CA399138520 | PEX12 | c.258T>G (p.Phe86Leu) | |
17 | g.35577460A>G | CA290069670 | PEX12 | c.258T>C (p.Phe86=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577460A>T | CA399138521 | PEX12 | c.258T>A (p.Phe86Leu) |