UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.66638856A= | CA1714178692 | KCTD7 | c.454A= (p.Thr152=) c.432A= c.324A= (p.Arg108=) c.319A= c.298A= c.494A= (p.Asp165=) c.*357A= (n.*357A=) c.364A= c.1A= | |
| 7 | g.66638856A>C | CA367696578 | KCTD7 | c.454A>C (p.Thr152Pro) c.432A>C c.324A>C (p.Arg108Ser) c.319A>C c.298A>C c.494A>C (p.Asp165Ala) c.*357A>C (n.*357A>C) c.364A>C c.1A>C | |
| 7 | g.66638856A>G | CA4278278 | KCTD7 | c.454A>G (p.Thr152Ala) c.432A>G c.324A>G (p.Arg108=) c.319A>G c.298A>G c.494A>G (p.Asp165Gly) c.*357A>G (n.*357A>G) c.364A>G c.1A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.66638856A>T | CA367696577 | KCTD7 | c.454A>T (p.Thr152Ser) c.432A>T c.324A>T (p.Arg108Ser) c.319A>T c.298A>T c.494A>T (p.Asp165Val) c.*357A>T (n.*357A>T) c.364A>T c.1A>T | gnomAD v4 |
| 7 | g.66638857C>A | CA367696580 | KCTD7 | c.455C>A (p.Thr152Asn) c.433C>A c.325C>A (p.Pro109Thr) c.320C>A c.299C>A c.495C>A (p.Asp165Glu) c.*358C>A (n.*358C>A) c.365C>A c.2C>A | |
| 7 | g.66638857C= | CA1714178694 | KCTD7 | c.455C= (p.Thr152=) c.433C= c.325C= (p.Pro109=) c.320C= c.299C= c.495C= (p.Asp165=) c.*358C= (n.*358C=) c.365C= c.2C= | |
| 7 | g.66638857C>G | CA367696579 | KCTD7 | c.455C>G (p.Thr152Ser) c.433C>G c.325C>G (p.Pro109Ala) c.320C>G c.299C>G c.495C>G (p.Asp165Glu) c.*358C>G (n.*358C>G) c.365C>G c.2C>G | gnomAD v4 |
| 7 | g.66638857C>T | CA367696581 | KCTD7 | c.455C>T (p.Thr152Ile) c.433C>T c.325C>T (p.Pro109Ser) c.320C>T c.299C>T c.495C>T (p.Asp165=) c.*358C>T (n.*358C>T) c.365C>T c.2C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.66638858C>A | CA367696582 | KCTD7 | c.456C>A (p.Thr152=) c.434C>A c.326C>A (p.Pro109Gln) c.321C>A c.300C>A c.496C>A (p.His166Asn) c.*359C>A (n.*359C>A) c.366C>A c.3C>A | |
| 7 | g.66638858C>G | CA367696584 | KCTD7 | c.456C>G (p.Thr152=) c.434C>G c.326C>G (p.Pro109Arg) c.321C>G c.300C>G c.496C>G (p.His166Asp) c.*359C>G (n.*359C>G) c.366C>G c.3C>G | |
| 7 | g.66638858C>T | CA367696583 | KCTD7 | c.456C>T (p.Thr152=) c.434C>T c.326C>T (p.Pro109Leu) c.321C>T c.300C>T c.496C>T (p.His166Tyr) c.*359C>T (n.*359C>T) c.366C>T c.3C>T | |
| 7 | g.66638859A>C | CA367696585 | KCTD7 | c.457A>C (p.Thr153Pro) c.435A>C c.327A>C (p.Pro109=) c.322A>C c.301A>C c.497A>C (p.His166Pro) c.*360A>C (n.*360A>C) c.367A>C c.4A>C | |
| 7 | g.66638859A>G | CA367696587 | KCTD7 | c.457A>G (p.Thr153Ala) c.435A>G c.327A>G (p.Pro109=) c.322A>G c.301A>G c.497A>G (p.His166Arg) c.*360A>G (n.*360A>G) c.367A>G c.4A>G | |
| 7 | g.66638859A>T | CA367696586 | KCTD7 | c.457A>T (p.Thr153Ser) c.435A>T c.327A>T (p.Pro109=) c.322A>T c.301A>T c.497A>T (p.His166Leu) c.*360A>T (n.*360A>T) c.367A>T c.4A>T | |
| 7 | g.66638860C>A | CA367696588 | KCTD7 | c.458C>A (p.Thr153Asn) c.436C>A c.328C>A (p.Leu110Ile) c.323C>A c.302C>A c.498C>A (p.His166Gln) c.*361C>A (n.*361C>A) c.368C>A c.5C>A | |
| 7 | g.66638860C= | CA1714178696 | KCTD7 | c.458C= (p.Thr153=) c.436C= c.328C= (p.Leu110=) c.323C= c.302C= c.498C= (p.His166=) c.*361C= (n.*361C=) c.368C= c.5C= | |
| 7 | g.66638860C>G | CA4278279 | KCTD7 | c.458C>G (p.Thr153Ser) c.436C>G c.328C>G (p.Leu110Val) c.323C>G c.302C>G c.498C>G (p.His166Gln) c.*361C>G (n.*361C>G) c.368C>G c.5C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.66638860C>T | CA367696589 | KCTD7 | c.458C>T (p.Thr153Ile) c.436C>T c.328C>T (p.Leu110Phe) c.323C>T c.302C>T c.498C>T (p.His166=) c.*361C>T (n.*361C>T) c.368C>T c.5C>T | |
| 7 | g.66638861T>A | CA367696590 | KCTD7 | c.459T>A (p.Thr153=) c.437T>A c.329T>A (p.Leu110His) c.324T>A c.303T>A c.499T>A (p.Leu167Met) c.*362T>A (n.*362T>A) c.369T>A c.6T>A | COSMIC |
| 7 | g.66638861T>C | CA367696592 | KCTD7 | c.459T>C (p.Thr153=) c.437T>C c.329T>C (p.Leu110Pro) c.324T>C c.303T>C c.499T>C (p.Leu167=) c.*362T>C (n.*362T>C) c.369T>C c.6T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.66638861T>G | CA367696591 | KCTD7 | c.459T>G (p.Thr153=) c.437T>G c.329T>G (p.Leu110Arg) c.324T>G c.303T>G c.499T>G (p.Leu167Val) c.*362T>G (n.*362T>G) c.369T>G c.6T>G | |
| 7 | g.66638861T= | CA1714178699 | KCTD7 | c.459T= (p.Thr153=) c.437T= c.329T= (p.Leu110=) c.324T= c.303T= c.499T= (p.Leu167=) c.*362T= (n.*362T=) c.369T= c.6T= | |
| 7 | g.66638862T>A | CA367696593 | KCTD7 | c.460T>A (p.Trp154Arg) c.438T>A c.330T>A (p.Leu110=) c.325T>A c.304T>A c.500T>A (p.Leu167Ter) c.*363T>A (n.*363T>A) c.370T>A c.7T>A | |
| 7 | g.66638862T>C | CA367696594 | KCTD7 | c.460T>C (p.Trp154Arg) c.438T>C c.330T>C (p.Leu110=) c.325T>C c.304T>C c.500T>C (p.Leu167Ser) c.*363T>C (n.*363T>C) c.370T>C c.7T>C | |
| 7 | g.66638862T>G | CA367696595 | KCTD7 | c.460T>G (p.Trp154Gly) c.438T>G c.330T>G (p.Leu110=) c.325T>G c.304T>G c.500T>G (p.Leu167Trp) c.*363T>G (n.*363T>G) c.370T>G c.7T>G | |
| 7 | g.66638863G>A | CA367696596 | KCTD7 | c.461G>A (p.Trp154Ter) c.439G>A c.331G>A (p.Gly111Arg) c.326G>A c.305G>A c.501G>A (p.Leu167=) c.*364G>A (n.*364G>A) c.371G>A c.8G>A | |
| 7 | g.66638863G>C | CA367696597 | KCTD7 | c.461G>C (p.Trp154Ser) c.439G>C c.331G>C (p.Gly111Arg) c.326G>C c.305G>C c.501G>C (p.Leu167Phe) c.*364G>C (n.*364G>C) c.371G>C c.8G>C | ClinVar |
| 7 | g.66638863G>T | CA367696598 | KCTD7 | c.461G>T (p.Trp154Leu) c.439G>T c.331G>T (p.Gly111Ter) c.326G>T c.305G>T c.501G>T (p.Leu167Phe) c.*364G>T (n.*364G>T) c.371G>T c.8G>T | |
| 7 | g.66638864G>A | CA160220249 | KCTD7 | c.462G>A (p.Trp154Ter) c.440G>A c.332G>A (p.Gly111Glu) c.327G>A c.306G>A c.502G>A (p.Glu168Lys) c.*365G>A (n.*365G>A) c.372G>A c.9G>A | dbSNP |
| 7 | g.66638864G>C | CA367696599 | KCTD7 | c.462G>C (p.Trp154Cys) c.440G>C c.332G>C (p.Gly111Ala) c.327G>C c.306G>C c.502G>C (p.Glu168Gln) c.*365G>C (n.*365G>C) c.372G>C c.9G>C | |
| 7 | g.66638864G= | CA1714178701 | KCTD7 | c.462G= (p.Trp154=) c.440G= c.332G= (p.Gly111=) c.327G= c.306G= c.502G= (p.Glu168=) c.*365G= (n.*365G=) c.372G= c.9G= | |
| 7 | g.66638864G>T | CA367696600 | KCTD7 | c.462G>T (p.Trp154Cys) c.440G>T c.332G>T (p.Gly111Val) c.327G>T c.306G>T c.502G>T (p.Glu168Ter) c.*365G>T (n.*365G>T) c.372G>T c.9G>T | |
| 7 | g.66638865A>C | CA367696601 | KCTD7 | c.463A>C (p.Ser155Arg) c.441A>C c.333A>C (p.Gly111=) c.328A>C c.307A>C c.503A>C (p.Glu168Ala) c.*366A>C (n.*366A>C) c.373A>C c.10A>C | |
| 7 | g.66638865A>G | CA367696602 | KCTD7 | c.463A>G (p.Ser155Gly) c.441A>G c.333A>G (p.Gly111=) c.328A>G c.307A>G c.503A>G (p.Glu168Gly) c.*366A>G (n.*366A>G) c.373A>G c.10A>G | |
| 7 | g.66638865A>T | CA367696603 | KCTD7 | c.463A>T (p.Ser155Cys) c.441A>T c.333A>T (p.Gly111=) c.328A>T c.307A>T c.503A>T (p.Glu168Val) c.*366A>T (n.*366A>T) c.373A>T c.10A>T | |
| 7 | g.66638866G>A | CA367696604 | KCTD7 | c.464G>A (p.Ser155Asn) c.442G>A c.334G>A (p.Ala112Thr) c.329G>A c.308G>A c.504G>A (p.Glu168=) c.*367G>A (n.*367G>A) c.374G>A c.11G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.66638866G>C | CA367696606 | KCTD7 | c.464G>C (p.Ser155Thr) c.442G>C c.334G>C (p.Ala112Pro) c.329G>C c.308G>C c.504G>C (p.Glu168Asp) c.*367G>C (n.*367G>C) c.374G>C c.11G>C | |
| 7 | g.66638866G= | CA1714178705 | KCTD7 | c.464G= (p.Ser155=) c.442G= c.334G= (p.Ala112=) c.329G= c.308G= c.504G= (p.Glu168=) c.*367G= (n.*367G=) c.374G= c.11G= | |
| 7 | g.66638866G>T | CA367696605 | KCTD7 | c.464G>T (p.Ser155Ile) c.442G>T c.334G>T (p.Ala112Ser) c.329G>T c.308G>T c.504G>T (p.Glu168Asp) c.*367G>T (n.*367G>T) c.374G>T c.11G>T | |
| 7 | g.66638867C>A | CA367696607 | KCTD7 | c.465C>A (p.Ser155Arg) c.443C>A c.335C>A (p.Ala112Glu) c.330C>A c.309C>A c.505C>A (p.Arg169=) c.*368C>A (n.*368C>A) c.375C>A c.12C>A | |
| 7 | g.66638867C= | CA1714178708 | KCTD7 | c.465C= (p.Ser155=) c.443C= c.335C= (p.Ala112=) c.330C= c.309C= c.505C= (p.Arg169=) c.*368C= (n.*368C=) c.375C= c.12C= | |
| 7 | g.66638867C>G | CA367696608 | KCTD7 | c.465C>G (p.Ser155Arg) c.443C>G c.335C>G (p.Ala112Gly) c.330C>G c.309C>G c.505C>G (p.Arg169Gly) c.*368C>G (n.*368C>G) c.375C>G c.12C>G | |
| 7 | g.66638867C>T | CA4278280 | KCTD7 | c.465C>T (p.Ser155=) c.443C>T c.335C>T (p.Ala112Val) c.330C>T c.309C>T c.505C>T (p.Arg169Trp) c.*368C>T (n.*368C>T) c.375C>T c.12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66638868G>A | CA4278281 | KCTD7 | c.466G>A (p.Gly156Arg) c.444G>A c.336G>A (p.Ala112=) c.331G>A c.310G>A c.506G>A (p.Arg169Gln) c.*369G>A (n.*369G>A) c.376G>A c.13G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66638868G>C | CA367696609 | KCTD7 | c.466G>C (p.Gly156Arg) c.444G>C c.336G>C (p.Ala112=) c.331G>C c.310G>C c.506G>C (p.Arg169Pro) c.*369G>C (n.*369G>C) c.376G>C c.13G>C | |
| 7 | g.66638868G= | CA1714178712 | KCTD7 | c.466G= (p.Gly156=) c.444G= c.336G= (p.Ala112=) c.331G= c.310G= c.506G= (p.Arg169=) c.*369G= (n.*369G=) c.376G= c.13G= | |
| 7 | g.66638868G>T | CA367696610 | KCTD7 | c.466G>T (p.Gly156Ter) c.444G>T c.336G>T (p.Ala112=) c.331G>T c.310G>T c.506G>T (p.Arg169Leu) c.*369G>T (n.*369G>T) c.376G>T c.13G>T | |
| 7 | g.66638869G>A | CA367696611 | KCTD7 | c.467G>A (p.Gly156Glu) c.445G>A c.337G>A (p.Asp113Asn) c.332G>A c.311G>A c.507G>A (p.Arg169=) c.*370G>A (n.*370G>A) c.377G>A c.14G>A | gnomAD v4 |
| 7 | g.66638869G>C | CA315675 | KCTD7 | c.467G>C (p.Gly156Ala) c.445G>C c.337G>C (p.Asp113His) c.332G>C c.311G>C c.507G>C (p.Arg169=) c.*370G>C (n.*370G>C) c.377G>C c.14G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66638869G= | CA1714178717 | KCTD7 | c.467G= (p.Gly156=) c.445G= c.337G= (p.Asp113=) c.332G= c.311G= c.507G= (p.Arg169=) c.*370G= (n.*370G=) c.377G= c.14G= |