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 |
|---|---|---|---|---|---|
| 2 | g.26477415C>A | CA346122923 | OTOF | c.2406+1G>T (n.2406+1G>T) c.165+1G>T (n.165+1G>T) c.336+1G>T (n.336+1G>T) c.2451+1G>T (n.2451+1G>T) | |
| 2 | g.26477415C= | CA1239830037 | OTOF | c.2406+1G= (n.2406+1G=) c.165+1G= (n.165+1G=) c.336+1G= (n.336+1G=) c.2451+1G= (n.2451+1G=) | |
| 2 | g.26477415C>G | CA346122924 | OTOF | c.2406+1G>C (n.2406+1G>C) c.165+1G>C (n.165+1G>C) c.336+1G>C (n.336+1G>C) c.2451+1G>C (n.2451+1G>C) | |
| 2 | g.26477415C>T | CA44398460 | OTOF | c.2406+1G>A (n.2406+1G>A) c.165+1G>A (n.165+1G>A) c.336+1G>A (n.336+1G>A) c.2451+1G>A (n.2451+1G>A) | dbSNP |
| 2 | g.26477416C>A | CA425360020 | OTOF | c.2406G>T (p.Leu802=) c.165G>T (p.Leu55=) c.336G>T (p.Leu112=) c.2451G>T (p.Leu817=) | gnomAD v4 |
| 2 | g.26477416C>G | CA425360021 | OTOF | c.2406G>C (p.Leu802=) c.165G>C (p.Leu55=) c.336G>C (p.Leu112=) c.2451G>C (p.Leu817=) | |
| 2 | g.26477416C>T | CA425360022 | OTOF | c.2406G>A (p.Leu802=) c.165G>A (p.Leu55=) c.336G>A (p.Leu112=) c.2451G>A (p.Leu817=) | gnomAD v4 |
| 2 | g.26477417A>C | CA346122926 | OTOF | c.2405T>G (p.Leu802Arg) c.164T>G (p.Leu55Arg) c.335T>G (p.Leu112Arg) c.2450T>G (p.Leu817Arg) | |
| 2 | g.26477417A>G | CA346122932 | OTOF | c.2405T>C (p.Leu802Pro) c.164T>C (p.Leu55Pro) c.335T>C (p.Leu112Pro) c.2450T>C (p.Leu817Pro) | gnomAD v4 |
| 2 | g.26477417A>T | CA346122929 | OTOF | c.2405T>A (p.Leu802Gln) c.164T>A (p.Leu55Gln) c.335T>A (p.Leu112Gln) c.2450T>A (p.Leu817Gln) | |
| 2 | g.26477418G>A | CA425360027 | OTOF | c.2404C>T (p.Leu802=) c.163C>T (p.Leu55=) c.334C>T (p.Leu112=) c.2449C>T (p.Leu817=) | dbSNP gnomAD v4 |
| 2 | g.26477418G>C | CA346122935 | OTOF | c.2404C>G (p.Leu802Val) c.163C>G (p.Leu55Val) c.334C>G (p.Leu112Val) c.2449C>G (p.Leu817Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26477418G= | CA1239830042 | OTOF | c.2404C= (p.Leu802=) c.163C= (p.Leu55=) c.334C= (p.Leu112=) c.2449C= (p.Leu817=) | |
| 2 | g.26477418G>T | CA346122937 | OTOF | c.2404C>A (p.Leu802Met) c.163C>A (p.Leu55Met) c.334C>A (p.Leu112Met) c.2449C>A (p.Leu817Met) | gnomAD v4 |
| 2 | g.26477419C>A | CA346122941 | OTOF | c.2403G>T (p.Glu801Asp) c.162G>T (p.Glu54Asp) c.333G>T (p.Glu111Asp) c.2448G>T (p.Glu816Asp) | gnomAD v4 |
| 2 | g.26477419C>G | CA346122945 | OTOF | c.2403G>C (p.Glu801Asp) c.162G>C (p.Glu54Asp) c.333G>C (p.Glu111Asp) c.2448G>C (p.Glu816Asp) | |
| 2 | g.26477419C>T | CA425360029 | OTOF | c.2403G>A (p.Glu801=) c.162G>A (p.Glu54=) c.333G>A (p.Glu111=) c.2448G>A (p.Glu816=) | |
| 2 | g.26477420T>A | CA1563935 | OTOF | c.2402A>T (p.Glu801Val) c.161A>T (p.Glu54Val) c.332A>T (p.Glu111Val) c.2447A>T (p.Glu816Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26477420T>C | CA346122955 | OTOF | c.2402A>G (p.Glu801Gly) c.161A>G (p.Glu54Gly) c.332A>G (p.Glu111Gly) c.2447A>G (p.Glu816Gly) | |
| 2 | g.26477420T>G | CA346122959 | OTOF | c.2402A>C (p.Glu801Ala) c.161A>C (p.Glu54Ala) c.332A>C (p.Glu111Ala) c.2447A>C (p.Glu816Ala) | |
| 2 | g.26477420T= | CA1239830048 | OTOF | c.2402A= (p.Glu801=) c.161A= (p.Glu54=) c.332A= (p.Glu111=) c.2447A= (p.Glu816=) | |
| 2 | g.26477420_26477421delinsAA | CA142800 | OTOF | c.2401_2402delinsTT (p.Glu801Leu) c.160_161delinsTT (p.Glu54Leu) c.331_332delinsTT (p.Glu111Leu) c.2446_2447delinsTT (p.Glu816Leu) | ClinVar dbSNP |
| 2 | g.26477420_26477421delinsTC | CA1239830050 | OTOF | c.2401_2402delinsGA (p.Glu801=) c.160_161delinsGA (p.Glu54=) c.331_332delinsGA (p.Glu111=) c.2446_2447delinsGA (p.Glu816=) | |
| 2 | g.26477421C>A | CA1563936 | OTOF | c.2401G>T (p.Glu801Ter) c.160G>T (p.Glu54Ter) c.331G>T (p.Glu111Ter) c.2446G>T (p.Glu816Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26477421C= | CA1239830055 | OTOF | c.2401G= (p.Glu801=) c.160G= (p.Glu54=) c.331G= (p.Glu111=) c.2446G= (p.Glu816=) | |
| 2 | g.26477421C>G | CA346122971 | OTOF | c.2401G>C (p.Glu801Gln) c.160G>C (p.Glu54Gln) c.331G>C (p.Glu111Gln) c.2446G>C (p.Glu816Gln) | |
| 2 | g.26477421C>T | CA346122973 | OTOF | c.2401G>A (p.Glu801Lys) c.160G>A (p.Glu54Lys) c.331G>A (p.Glu111Lys) c.2446G>A (p.Glu816Lys) | |
| 2 | g.26477422C>A | CA346122977 | OTOF | c.2400G>T (p.Arg800Ser) c.159G>T (p.Arg53Ser) c.330G>T (p.Arg110Ser) c.2445G>T (p.Arg815Ser) | |
| 2 | g.26477422C= | CA1239830059 | OTOF | c.2400G= (p.Arg800=) c.159G= (p.Arg53=) c.330G= (p.Arg110=) c.2445G= (p.Arg815=) | |
| 2 | g.26477422C>G | CA346122979 | OTOF | c.2400G>C (p.Arg800Ser) c.159G>C (p.Arg53Ser) c.330G>C (p.Arg110Ser) c.2445G>C (p.Arg815Ser) | gnomAD v4 |
| 2 | g.26477422C>T | CA425360033 | OTOF | c.2400G>A (p.Arg800=) c.159G>A (p.Arg53=) c.330G>A (p.Arg110=) c.2445G>A (p.Arg815=) | dbSNP |
| 2 | g.26477423C>A | CA346122982 | OTOF | c.2399G>T (p.Arg800Met) c.158G>T (p.Arg53Met) c.329G>T (p.Arg110Met) c.2444G>T (p.Arg815Met) | gnomAD v4 |
| 2 | g.26477423C= | CA1239830062 | OTOF | c.2399G= (p.Arg800=) c.158G= (p.Arg53=) c.329G= (p.Arg110=) c.2444G= (p.Arg815=) | |
| 2 | g.26477423C>G | CA346122984 | OTOF | c.2399G>C (p.Arg800Thr) c.158G>C (p.Arg53Thr) c.329G>C (p.Arg110Thr) c.2444G>C (p.Arg815Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26477423C>T | CA346122985 | OTOF | c.2399G>A (p.Arg800Lys) c.158G>A (p.Arg53Lys) c.329G>A (p.Arg110Lys) c.2444G>A (p.Arg815Lys) | |
| 2 | g.26477424T>A | CA346122988 | OTOF | c.2398A>T (p.Arg800Trp) c.157A>T (p.Arg53Trp) c.328A>T (p.Arg110Trp) c.2443A>T (p.Arg815Trp) | |
| 2 | g.26477424T>C | CA346122989 | OTOF | c.2398A>G (p.Arg800Gly) c.157A>G (p.Arg53Gly) c.328A>G (p.Arg110Gly) c.2443A>G (p.Arg815Gly) | gnomAD v4 |
| 2 | g.26477424T>G | CA425360036 | OTOF | c.2398A>C (p.Arg800=) c.157A>C (p.Arg53=) c.328A>C (p.Arg110=) c.2443A>C (p.Arg815=) | |
| 2 | g.26477425C>A | CA346122991 | OTOF | c.2397G>T (p.Met799Ile) c.156G>T (p.Met52Ile) c.327G>T (p.Met109Ile) c.2442G>T (p.Met814Ile) | gnomAD v4 |
| 2 | g.26477425C>G | CA346122993 | OTOF | c.2397G>C (p.Met799Ile) c.156G>C (p.Met52Ile) c.327G>C (p.Met109Ile) c.2442G>C (p.Met814Ile) | |
| 2 | g.26477425C>T | CA346122995 | OTOF | c.2397G>A (p.Met799Ile) c.156G>A (p.Met52Ile) c.327G>A (p.Met109Ile) c.2442G>A (p.Met814Ile) | |
| 2 | g.26477426A>C | CA346122997 | OTOF | c.2396T>G (p.Met799Arg) c.155T>G (p.Met52Arg) c.326T>G (p.Met109Arg) c.2441T>G (p.Met814Arg) | |
| 2 | g.26477426A>G | CA346122998 | OTOF | c.2396T>C (p.Met799Thr) c.155T>C (p.Met52Thr) c.326T>C (p.Met109Thr) c.2441T>C (p.Met814Thr) | |
| 2 | g.26477426A>T | CA346122999 | OTOF | c.2396T>A (p.Met799Lys) c.155T>A (p.Met52Lys) c.326T>A (p.Met109Lys) c.2441T>A (p.Met814Lys) | gnomAD v4 |
| 2 | g.26477427T>A | CA346123003 | OTOF | c.2395A>T (p.Met799Leu) c.154A>T (p.Met52Leu) c.325A>T (p.Met109Leu) c.2440A>T (p.Met814Leu) | |
| 2 | g.26477427T>C | CA346123006 | OTOF | c.2395A>G (p.Met799Val) c.154A>G (p.Met52Val) c.325A>G (p.Met109Val) c.2440A>G (p.Met814Val) | gnomAD v4 |
| 2 | g.26477427T>G | CA346123010 | OTOF | c.2395A>C (p.Met799Leu) c.154A>C (p.Met52Leu) c.325A>C (p.Met109Leu) c.2440A>C (p.Met814Leu) | |
| 2 | g.26477428G>A | CA425360043 | OTOF | c.2394C>T (p.Cys798=) c.153C>T (p.Cys51=) c.324C>T (p.Cys108=) c.2439C>T (p.Cys813=) | gnomAD v4 |
| 2 | g.26477428G>C | CA346123024 | OTOF | c.2394C>G (p.Cys798Trp) c.153C>G (p.Cys51Trp) c.324C>G (p.Cys108Trp) c.2439C>G (p.Cys813Trp) | |
| 2 | g.26477428G>T | CA346123028 | OTOF | c.2394C>A (p.Cys798Ter) c.153C>A (p.Cys51Ter) c.324C>A (p.Cys108Ter) c.2439C>A (p.Cys813Ter) | gnomAD v4 COSMIC COSMIC COSMIC |