| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26476209G>A | CA425359672 | OTOF | c.2785C>T (p.Leu929=) c.544C>T (p.Leu182=) c.715C>T (p.Leu239=) c.2830C>T (p.Leu944=) | gnomAD v4 |
| 2 | g.26476209G>C | CA346115441 | OTOF | c.2785C>G (p.Leu929Val) c.544C>G (p.Leu182Val) c.715C>G (p.Leu239Val) c.2830C>G (p.Leu944Val) | dbSNP |
| 2 | g.26476209G= | CA1239828003 | OTOF | c.2785C= (p.Leu929=) c.544C= (p.Leu182=) c.715C= (p.Leu239=) c.2830C= (p.Leu944=) | |
| 2 | g.26476209G>T | CA346115445 | OTOF | c.2785C>A (p.Leu929Met) c.544C>A (p.Leu182Met) c.715C>A (p.Leu239Met) c.2830C>A (p.Leu944Met) | gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26476210G>A | CA425359682 | OTOF | c.2784C>T (p.Gly928=) c.543C>T (p.Gly181=) c.714C>T (p.Gly238=) c.2829C>T (p.Gly943=) | gnomAD v4 |
| 2 | g.26476210G>C | CA425359680 | OTOF | c.2784C>G (p.Gly928=) c.543C>G (p.Gly181=) c.714C>G (p.Gly238=) c.2829C>G (p.Gly943=) | |
| 2 | g.26476210G>T | CA425359677 | OTOF | c.2784C>A (p.Gly928=) c.543C>A (p.Gly181=) c.714C>A (p.Gly238=) c.2829C>A (p.Gly943=) | gnomAD v4 |
| 2 | g.26476211C>A | CA346115453 | OTOF | c.2783G>T (p.Gly928Val) c.542G>T (p.Gly181Val) c.713G>T (p.Gly238Val) c.2828G>T (p.Gly943Val) | |
| 2 | g.26476211C>G | CA346115466 | OTOF | c.2783G>C (p.Gly928Ala) c.542G>C (p.Gly181Ala) c.713G>C (p.Gly238Ala) c.2828G>C (p.Gly943Ala) | |
| 2 | g.26476211C>T | CA346115472 | OTOF | c.2783G>A (p.Gly928Asp) c.542G>A (p.Gly181Asp) c.713G>A (p.Gly238Asp) c.2828G>A (p.Gly943Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26476212C>A | CA1563775 | OTOF | c.2782G>T (p.Gly928Cys) c.541G>T (p.Gly181Cys) c.712G>T (p.Gly238Cys) c.2827G>T (p.Gly943Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26476212C= | CA1239828007 | OTOF | c.2782G= (p.Gly928=) c.541G= (p.Gly181=) c.712G= (p.Gly238=) c.2827G= (p.Gly943=) | |
| 2 | g.26476212C>G | CA346115488 | OTOF | c.2782G>C (p.Gly928Arg) c.541G>C (p.Gly181Arg) c.712G>C (p.Gly238Arg) c.2827G>C (p.Gly943Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26476212C>T | CA1563774 | OTOF | c.2782G>A (p.Gly928Ser) c.541G>A (p.Gly181Ser) c.712G>A (p.Gly238Ser) c.2827G>A (p.Gly943Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26476213G>A | CA44397947 | OTOF | c.2781C>T (p.Cys927=) c.540C>T (p.Cys180=) c.711C>T (p.Cys237=) c.2826C>T (p.Cys942=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26476213G>C | CA346115493 | OTOF | c.2781C>G (p.Cys927Trp) c.540C>G (p.Cys180Trp) c.711C>G (p.Cys237Trp) c.2826C>G (p.Cys942Trp) | dbSNP gnomAD v4 |
| 2 | g.26476213G= | CA1239828010 | OTOF | c.2781C= (p.Cys927=) c.540C= (p.Cys180=) c.711C= (p.Cys237=) c.2826C= (p.Cys942=) | |
| 2 | g.26476213G>T | CA346115492 | OTOF | c.2781C>A (p.Cys927Ter) c.540C>A (p.Cys180Ter) c.711C>A (p.Cys237Ter) c.2826C>A (p.Cys942Ter) | gnomAD v4 |
| 2 | g.26476214C>A | CA346115500 | OTOF | c.2780G>T (p.Cys927Phe) c.539G>T (p.Cys180Phe) c.710G>T (p.Cys237Phe) c.2825G>T (p.Cys942Phe) | |
| 2 | g.26476214C>G | CA346115502 | OTOF | c.2780G>C (p.Cys927Ser) c.539G>C (p.Cys180Ser) c.710G>C (p.Cys237Ser) c.2825G>C (p.Cys942Ser) | |
| 2 | g.26476214C>T | CA346115501 | OTOF | c.2780G>A (p.Cys927Tyr) c.539G>A (p.Cys180Tyr) c.710G>A (p.Cys237Tyr) c.2825G>A (p.Cys942Tyr) | gnomAD v4 |
| 2 | g.26476215A= | CA1239828016 | OTOF | c.2779T= (p.Cys927=) c.538T= (p.Cys180=) c.709T= (p.Cys237=) c.2824T= (p.Cys942=) | |
| 2 | g.26476215A>C | CA346115508 | OTOF | c.2779T>G (p.Cys927Gly) c.538T>G (p.Cys180Gly) c.709T>G (p.Cys237Gly) c.2824T>G (p.Cys942Gly) | |
| 2 | g.26476215A>G | CA346115515 | OTOF | c.2779T>C (p.Cys927Arg) c.538T>C (p.Cys180Arg) c.709T>C (p.Cys237Arg) c.2824T>C (p.Cys942Arg) | dbSNP |
| 2 | g.26476215A>T | CA346115513 | OTOF | c.2779T>A (p.Cys927Ser) c.538T>A (p.Cys180Ser) c.709T>A (p.Cys237Ser) c.2824T>A (p.Cys942Ser) | |
| 2 | g.26476216C>A | CA425359696 | OTOF | c.2778G>T (p.Leu926=) c.537G>T (p.Leu179=) c.708G>T (p.Leu236=) c.2823G>T (p.Leu941=) | |
| 2 | g.26476216C= | CA1239828019 | OTOF | c.2778G= (p.Leu926=) c.537G= (p.Leu179=) c.708G= (p.Leu236=) c.2823G= (p.Leu941=) | |
| 2 | g.26476216C>G | CA1563776 | OTOF | c.2778G>C (p.Leu926=) c.537G>C (p.Leu179=) c.708G>C (p.Leu236=) c.2823G>C (p.Leu941=) | dbSNP ExAC gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26476216C>T | CA425359697 | OTOF | c.2778G>A (p.Leu926=) c.537G>A (p.Leu179=) c.708G>A (p.Leu236=) c.2823G>A (p.Leu941=) | gnomAD v4 |
| 2 | g.26476217A= | CA1239828024 | OTOF | c.2777T= (p.Leu926=) c.536T= (p.Leu179=) c.707T= (p.Leu236=) c.2822T= (p.Leu941=) | |
| 2 | g.26476217A>C | CA346115532 | OTOF | c.2777T>G (p.Leu926Arg) c.536T>G (p.Leu179Arg) c.707T>G (p.Leu236Arg) c.2822T>G (p.Leu941Arg) | |
| 2 | g.26476217A>G | CA346115530 | OTOF | c.2777T>C (p.Leu926Pro) c.536T>C (p.Leu179Pro) c.707T>C (p.Leu236Pro) c.2822T>C (p.Leu941Pro) | |
| 2 | g.26476217A>T | CA346115534 | OTOF | c.2777T>A (p.Leu926Gln) c.536T>A (p.Leu179Gln) c.707T>A (p.Leu236Gln) c.2822T>A (p.Leu941Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26476218G>A | CA425359702 | OTOF | c.2776C>T (p.Leu926=) c.535C>T (p.Leu179=) c.706C>T (p.Leu236=) c.2821C>T (p.Leu941=) | |
| 2 | g.26476218G>C | CA346115553 | OTOF | c.2776C>G (p.Leu926Val) c.535C>G (p.Leu179Val) c.706C>G (p.Leu236Val) c.2821C>G (p.Leu941Val) | |
| 2 | g.26476218G>T | CA346115558 | OTOF | c.2776C>A (p.Leu926Met) c.535C>A (p.Leu179Met) c.706C>A (p.Leu236Met) c.2821C>A (p.Leu941Met) | |
| 2 | g.26476219G>A | CA425359707 | OTOF | c.2775C>T (p.Phe925=) c.534C>T (p.Phe178=) c.705C>T (p.Phe235=) c.2820C>T (p.Phe940=) | |
| 2 | g.26476219G>C | CA346115559 | OTOF | c.2775C>G (p.Phe925Leu) c.534C>G (p.Phe178Leu) c.705C>G (p.Phe235Leu) c.2820C>G (p.Phe940Leu) | |
| 2 | g.26476219G>T | CA346115564 | OTOF | c.2775C>A (p.Phe925Leu) c.534C>A (p.Phe178Leu) c.705C>A (p.Phe235Leu) c.2820C>A (p.Phe940Leu) | gnomAD v4 |
| 2 | g.26476220A>C | CA346115573 | OTOF | c.2774T>G (p.Phe925Cys) c.533T>G (p.Phe178Cys) c.704T>G (p.Phe235Cys) c.2819T>G (p.Phe940Cys) | |
| 2 | g.26476220A>G | CA346115580 | OTOF | c.2774T>C (p.Phe925Ser) c.533T>C (p.Phe178Ser) c.704T>C (p.Phe235Ser) c.2819T>C (p.Phe940Ser) | |
| 2 | g.26476220A>T | CA346115581 | OTOF | c.2774T>A (p.Phe925Tyr) c.533T>A (p.Phe178Tyr) c.704T>A (p.Phe235Tyr) c.2819T>A (p.Phe940Tyr) | |
| 2 | g.26476221A= | CA1239828027 | OTOF | c.2773T= (p.Phe925=) c.532T= (p.Phe178=) c.703T= (p.Phe235=) c.2818T= (p.Phe940=) | |
| 2 | g.26476221A>C | CA346115583 | OTOF | c.2773T>G (p.Phe925Val) c.532T>G (p.Phe178Val) c.703T>G (p.Phe235Val) c.2818T>G (p.Phe940Val) | gnomAD v3 gnomAD v4 |
| 2 | g.26476221A>G | CA1563777 | OTOF | c.2773T>C (p.Phe925Leu) c.532T>C (p.Phe178Leu) c.703T>C (p.Phe235Leu) c.2818T>C (p.Phe940Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26476221A>T | CA1563778 | OTOF | c.2773T>A (p.Phe925Ile) c.532T>A (p.Phe178Ile) c.703T>A (p.Phe235Ile) c.2818T>A (p.Phe940Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26476222C>A | CA346115599 | OTOF | c.2772G>T (p.Glu924Asp) c.531G>T (p.Glu177Asp) c.702G>T (p.Glu234Asp) c.2817G>T (p.Glu939Asp) | |
| 2 | g.26476222C>G | CA346115598 | OTOF | c.2772G>C (p.Glu924Asp) c.531G>C (p.Glu177Asp) c.702G>C (p.Glu234Asp) c.2817G>C (p.Glu939Asp) | |
| 2 | g.26476222C>T | CA425359716 | OTOF | c.2772G>A (p.Glu924=) c.531G>A (p.Glu177=) c.702G>A (p.Glu234=) c.2817G>A (p.Glu939=) | |
| 2 | g.26476223T>A | CA346115602 | OTOF | c.2771A>T (p.Glu924Val) c.530A>T (p.Glu177Val) c.701A>T (p.Glu234Val) c.2816A>T (p.Glu939Val) |