Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26479325C>A | CA346127515 | OTOF | c.2153G>T (p.Trp718Leu) c.2198G>T (p.Trp733Leu) | |
2 | g.26479325C= | CA1239832001 | OTOF | c.2153G= (p.Trp718=) c.2198G= (p.Trp733=) | |
2 | g.26479325C>G | CA346127517 | OTOF | c.2153G>C (p.Trp718Ser) c.2198G>C (p.Trp733Ser) | |
2 | g.26479325C>T | CA262042 | OTOF | c.2153G>A (p.Trp718Ter) c.2198G>A (p.Trp733Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26479326A>C | CA346127518 | OTOF | c.2152T>G (p.Trp718Gly) c.2197T>G (p.Trp733Gly) | gnomAD v4 |
2 | g.26479326A>G | CA346127520 | OTOF | c.2152T>C (p.Trp718Arg) c.2197T>C (p.Trp733Arg) | gnomAD v4 |
2 | g.26479326A>T | CA346127522 | OTOF | c.2152T>A (p.Trp718Arg) c.2197T>A (p.Trp733Arg) | |
2 | g.26479327C>A | CA346127525 | OTOF | c.2151G>T (p.Trp717Cys) c.2196G>T (p.Trp732Cys) | |
2 | g.26479327C>G | CA346127528 | OTOF | c.2151G>C (p.Trp717Cys) c.2196G>C (p.Trp732Cys) | |
2 | g.26479327C>T | CA346127530 | OTOF | c.2151G>A (p.Trp717Ter) c.2196G>A (p.Trp732Ter) | |
2 | g.26479328C>A | CA346127533 | OTOF | c.2150G>T (p.Trp717Leu) c.2195G>T (p.Trp732Leu) | |
2 | g.26479328C= | CA1239832008 | OTOF | c.2150G= (p.Trp717=) c.2195G= (p.Trp732=) | |
2 | g.26479328C>G | CA346127536 | OTOF | c.2150G>C (p.Trp717Ser) c.2195G>C (p.Trp732Ser) | |
2 | g.26479328C>T | CA346127538 | OTOF | c.2150G>A (p.Trp717Ter) c.2195G>A (p.Trp732Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26479329A>C | CA346127545 | OTOF | c.2149T>G (p.Trp717Gly) c.2194T>G (p.Trp732Gly) | |
2 | g.26479329A>G | CA346127547 | OTOF | c.2149T>C (p.Trp717Arg) c.2194T>C (p.Trp732Arg) | |
2 | g.26479329A>T | CA346127542 | OTOF | c.2149T>A (p.Trp717Arg) c.2194T>A (p.Trp732Arg) | |
2 | g.26479330G>A | CA44400527 | OTOF | c.2148C>T (p.Ser716=) c.2193C>T (p.Ser731=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26479330G>C | CA346127551 | OTOF | c.2148C>G (p.Ser716Arg) c.2193C>G (p.Ser731Arg) | |
2 | g.26479330G= | CA1239826240 | OTOF | c.2148C= (p.Ser716=) c.2193C= (p.Ser731=) | |
2 | g.26479330G>T | CA346127552 | OTOF | c.2148C>A (p.Ser716Arg) c.2193C>A (p.Ser731Arg) | |
2 | g.26479331C>A | CA346127557 | OTOF | c.2147G>T (p.Ser716Ile) c.2192G>T (p.Ser731Ile) | gnomAD v4 |
2 | g.26479331C= | CA1239826241 | OTOF | c.2147G= (p.Ser716=) c.2192G= (p.Ser731=) | |
2 | g.26479331C>G | CA346127560 | OTOF | c.2147G>C (p.Ser716Thr) c.2192G>C (p.Ser731Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26479331C>T | CA1564053 | OTOF | c.2147G>A (p.Ser716Asn) c.2192G>A (p.Ser731Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26479332T>A | CA346127573 | OTOF | c.2146A>T (p.Ser716Cys) c.2191A>T (p.Ser731Cys) | |
2 | g.26479332T>C | CA346127567 | OTOF | c.2146A>G (p.Ser716Gly) c.2191A>G (p.Ser731Gly) | |
2 | g.26479332T>G | CA346127570 | OTOF | c.2146A>C (p.Ser716Arg) c.2191A>C (p.Ser731Arg) | |
2 | g.26479333C>A | CA346127587 | OTOF | c.2145G>T (p.Lys715Asn) c.2190G>T (p.Lys730Asn) | |
2 | g.26479333C>G | CA346127590 | OTOF | c.2145G>C (p.Lys715Asn) c.2190G>C (p.Lys730Asn) | |
2 | g.26479333C>T | CA425204766 | OTOF | c.2145G>A (p.Lys715=) c.2190G>A (p.Lys730=) | |
2 | g.26479334T>A | CA346127596 | OTOF | c.2144A>T (p.Lys715Met) c.2189A>T (p.Lys730Met) | |
2 | g.26479334T>C | CA346127600 | OTOF | c.2144A>G (p.Lys715Arg) c.2189A>G (p.Lys730Arg) | dbSNP |
2 | g.26479334T>G | CA346127605 | OTOF | c.2144A>C (p.Lys715Thr) c.2189A>C (p.Lys730Thr) | |
2 | g.26479334T= | CA1239826244 | OTOF | c.2144A= (p.Lys715=) c.2189A= (p.Lys730=) | |
2 | g.26479335T>A | CA346127610 | OTOF | c.2143A>T (p.Lys715Ter) c.2188A>T (p.Lys730Ter) | |
2 | g.26479335T>C | CA346127616 | OTOF | c.2143A>G (p.Lys715Glu) c.2188A>G (p.Lys730Glu) | |
2 | g.26479335T>G | CA346127614 | OTOF | c.2143A>C (p.Lys715Gln) c.2188A>C (p.Lys730Gln) | |
2 | g.26479336G>A | CA425204767 | OTOF | c.2142C>T (p.Ile714=) c.2187C>T (p.Ile729=) | gnomAD v4 |
2 | g.26479336G>C | CA346127634 | OTOF | c.2142C>G (p.Ile714Met) c.2187C>G (p.Ile729Met) | |
2 | g.26479336G>T | CA425204768 | OTOF | c.2142C>A (p.Ile714=) c.2187C>A (p.Ile729=) | |
2 | g.26479337A= | CA1239826247 | OTOF | c.2141T= (p.Ile714=) c.2186T= (p.Ile729=) | |
2 | g.26479337A>C | CA346127638 | OTOF | c.2141T>G (p.Ile714Ser) c.2186T>G (p.Ile729Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26479337A>G | CA346127644 | OTOF | c.2141T>C (p.Ile714Thr) c.2186T>C (p.Ile729Thr) | |
2 | g.26479337A>T | CA346127649 | OTOF | c.2141T>A (p.Ile714Asn) c.2186T>A (p.Ile729Asn) | |
2 | g.26479338T>A | CA346127655 | OTOF | c.2140A>T (p.Ile714Phe) c.2185A>T (p.Ile729Phe) | |
2 | g.26479338T>C | CA346127657 | OTOF | c.2140A>G (p.Ile714Val) c.2185A>G (p.Ile729Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26479338T>G | CA346127662 | OTOF | c.2140A>C (p.Ile714Leu) c.2185A>C (p.Ile729Leu) | |
2 | g.26479338T= | CA1239826248 | OTOF | c.2140A= (p.Ile714=) c.2185A= (p.Ile729=) | |
2 | g.26479339G>A | CA425204769 | OTOF | c.2139C>T (p.Tyr713=) c.2184C>T (p.Tyr728=) |