WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26461854C>A | CA346131584 | OTOF | c.5375G>T (p.Arg1792Leu) c.3074G>T (p.Arg1025Leu) c.3134G>T (p.Arg1045Leu) c.3305G>T (p.Arg1102Leu) c.5360G>T (p.Arg1787Leu) c.5420G>T (p.Arg1807Leu) c.5315G>T (p.Arg1772Leu) | |
| 2 | g.26461854C= | CA1239825465 | OTOF | c.5375G= (p.Arg1792=) c.3074G= (p.Arg1025=) c.3134G= (p.Arg1045=) c.3305G= (p.Arg1102=) c.5360G= (p.Arg1787=) c.5420G= (p.Arg1807=) c.5315G= (p.Arg1772=) | |
| 2 | g.26461854C>G | CA346131585 | OTOF | c.5375G>C (p.Arg1792Pro) c.3074G>C (p.Arg1025Pro) c.3134G>C (p.Arg1045Pro) c.3305G>C (p.Arg1102Pro) c.5360G>C (p.Arg1787Pro) c.5420G>C (p.Arg1807Pro) c.5315G>C (p.Arg1772Pro) | |
| 2 | g.26461854C>T | CA236032 | OTOF | c.5375G>A (p.Arg1792His) c.3074G>A (p.Arg1025His) c.3134G>A (p.Arg1045His) c.3305G>A (p.Arg1102His) c.5360G>A (p.Arg1787His) c.5420G>A (p.Arg1807His) c.5315G>A (p.Arg1772His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461855G>A | CA182451 | OTOF | c.5374C>T (p.Arg1792Cys) c.3073C>T (p.Arg1025Cys) c.3133C>T (p.Arg1045Cys) c.3304C>T (p.Arg1102Cys) c.5359C>T (p.Arg1787Cys) c.5419C>T (p.Arg1807Cys) c.5314C>T (p.Arg1772Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26461855G>C | CA346131586 | OTOF | c.5374C>G (p.Arg1792Gly) c.3073C>G (p.Arg1025Gly) c.3133C>G (p.Arg1045Gly) c.3304C>G (p.Arg1102Gly) c.5359C>G (p.Arg1787Gly) c.5419C>G (p.Arg1807Gly) c.5314C>G (p.Arg1772Gly) | |
| 2 | g.26461855G= | CA1239825466 | OTOF | c.5374C= (p.Arg1792=) c.3073C= (p.Arg1025=) c.3133C= (p.Arg1045=) c.3304C= (p.Arg1102=) c.5359C= (p.Arg1787=) c.5419C= (p.Arg1807=) c.5314C= (p.Arg1772=) | |
| 2 | g.26461855G>T | CA346131587 | OTOF | c.5374C>A (p.Arg1792Ser) c.3073C>A (p.Arg1025Ser) c.3133C>A (p.Arg1045Ser) c.3304C>A (p.Arg1102Ser) c.5359C>A (p.Arg1787Ser) c.5419C>A (p.Arg1807Ser) c.5314C>A (p.Arg1772Ser) | |
| 2 | g.26461856C>A | CA346131588 | OTOF | c.5373G>T (p.Trp1791Cys) c.3072G>T (p.Trp1024Cys) c.3132G>T (p.Trp1044Cys) c.3303G>T (p.Trp1101Cys) c.5358G>T (p.Trp1786Cys) c.5418G>T (p.Trp1806Cys) c.5313G>T (p.Trp1771Cys) | |
| 2 | g.26461856C>G | CA346131589 | OTOF | c.5373G>C (p.Trp1791Cys) c.3072G>C (p.Trp1024Cys) c.3132G>C (p.Trp1044Cys) c.3303G>C (p.Trp1101Cys) c.5358G>C (p.Trp1786Cys) c.5418G>C (p.Trp1806Cys) c.5313G>C (p.Trp1771Cys) | |
| 2 | g.26461856C>T | CA346131590 | OTOF | c.5373G>A (p.Trp1791Ter) c.3072G>A (p.Trp1024Ter) c.3132G>A (p.Trp1044Ter) c.3303G>A (p.Trp1101Ter) c.5358G>A (p.Trp1786Ter) c.5418G>A (p.Trp1806Ter) c.5313G>A (p.Trp1771Ter) | COSMIC COSMIC COSMIC |
| 2 | g.26461857C>A | CA346131593 | OTOF | c.5372G>T (p.Trp1791Leu) c.3071G>T (p.Trp1024Leu) c.3131G>T (p.Trp1044Leu) c.3302G>T (p.Trp1101Leu) c.5357G>T (p.Trp1786Leu) c.5417G>T (p.Trp1806Leu) c.5312G>T (p.Trp1771Leu) | |
| 2 | g.26461857C>G | CA346131591 | OTOF | c.5372G>C (p.Trp1791Ser) c.3071G>C (p.Trp1024Ser) c.3131G>C (p.Trp1044Ser) c.3302G>C (p.Trp1101Ser) c.5357G>C (p.Trp1786Ser) c.5417G>C (p.Trp1806Ser) c.5312G>C (p.Trp1771Ser) | gnomAD v4 |
| 2 | g.26461857C>T | CA346131592 | OTOF | c.5372G>A (p.Trp1791Ter) c.3071G>A (p.Trp1024Ter) c.3131G>A (p.Trp1044Ter) c.3302G>A (p.Trp1101Ter) c.5357G>A (p.Trp1786Ter) c.5417G>A (p.Trp1806Ter) c.5312G>A (p.Trp1771Ter) | |
| 2 | g.26461858del | CA2576698813 | OTOF | c.5371del (p.Trp1791GlyfsTer?) c.3070del (p.Trp1024GlyfsTer?) c.3130del (p.Trp1044GlyfsTer?) c.3301del (p.Trp1101GlyfsTer?) c.5356del (p.Trp1786GlyfsTer?) c.5416del (p.Trp1806GlyfsTer?) c.5311del (p.Trp1771GlyfsTer?) | gnomAD v4 |
| 2 | g.26461858A>C | CA346131594 | OTOF | c.5371T>G (p.Trp1791Gly) c.3070T>G (p.Trp1024Gly) c.3130T>G (p.Trp1044Gly) c.3301T>G (p.Trp1101Gly) c.5356T>G (p.Trp1786Gly) c.5416T>G (p.Trp1806Gly) c.5311T>G (p.Trp1771Gly) | |
| 2 | g.26461858A>G | CA346131595 | OTOF | c.5371T>C (p.Trp1791Arg) c.3070T>C (p.Trp1024Arg) c.3130T>C (p.Trp1044Arg) c.3301T>C (p.Trp1101Arg) c.5356T>C (p.Trp1786Arg) c.5416T>C (p.Trp1806Arg) c.5311T>C (p.Trp1771Arg) | |
| 2 | g.26461858A>T | CA346131596 | OTOF | c.5371T>A (p.Trp1791Arg) c.3070T>A (p.Trp1024Arg) c.3130T>A (p.Trp1044Arg) c.3301T>A (p.Trp1101Arg) c.5356T>A (p.Trp1786Arg) c.5416T>A (p.Trp1806Arg) c.5311T>A (p.Trp1771Arg) | |
| 2 | g.26461859G>A | CA425359370 | OTOF | c.5370C>T (p.Asn1790=) c.3069C>T (p.Asn1023=) c.3129C>T (p.Asn1043=) c.3300C>T (p.Asn1100=) c.5355C>T (p.Asn1785=) c.5415C>T (p.Asn1805=) c.5310C>T (p.Asn1770=) | |
| 2 | g.26461859G>C | CA346131597 | OTOF | c.5370C>G (p.Asn1790Lys) c.3069C>G (p.Asn1023Lys) c.3129C>G (p.Asn1043Lys) c.3300C>G (p.Asn1100Lys) c.5355C>G (p.Asn1785Lys) c.5415C>G (p.Asn1805Lys) c.5310C>G (p.Asn1770Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461859G= | CA1239825467 | OTOF | c.5370C= (p.Asn1790=) c.3069C= (p.Asn1023=) c.3129C= (p.Asn1043=) c.3300C= (p.Asn1100=) c.5355C= (p.Asn1785=) c.5415C= (p.Asn1805=) c.5310C= (p.Asn1770=) | |
| 2 | g.26461859G>T | CA346131598 | OTOF | c.5370C>A (p.Asn1790Lys) c.3069C>A (p.Asn1023Lys) c.3129C>A (p.Asn1043Lys) c.3300C>A (p.Asn1100Lys) c.5355C>A (p.Asn1785Lys) c.5415C>A (p.Asn1805Lys) c.5310C>A (p.Asn1770Lys) | |
| 2 | g.26461860T>A | CA346131599 | OTOF | c.5369A>T (p.Asn1790Ile) c.3068A>T (p.Asn1023Ile) c.3128A>T (p.Asn1043Ile) c.3299A>T (p.Asn1100Ile) c.5354A>T (p.Asn1785Ile) c.5414A>T (p.Asn1805Ile) c.5309A>T (p.Asn1770Ile) | gnomAD v4 |
| 2 | g.26461860T>C | CA346131600 | OTOF | c.5369A>G (p.Asn1790Ser) c.3068A>G (p.Asn1023Ser) c.3128A>G (p.Asn1043Ser) c.3299A>G (p.Asn1100Ser) c.5354A>G (p.Asn1785Ser) c.5414A>G (p.Asn1805Ser) c.5309A>G (p.Asn1770Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461860T>G | CA44409194 | OTOF | c.5369A>C (p.Asn1790Thr) c.3068A>C (p.Asn1023Thr) c.3128A>C (p.Asn1043Thr) c.3299A>C (p.Asn1100Thr) c.5354A>C (p.Asn1785Thr) c.5414A>C (p.Asn1805Thr) c.5309A>C (p.Asn1770Thr) | dbSNP gnomAD v4 |
| 2 | g.26461860T= | CA1239825468 | OTOF | c.5369A= (p.Asn1790=) c.3068A= (p.Asn1023=) c.3128A= (p.Asn1043=) c.3299A= (p.Asn1100=) c.5354A= (p.Asn1785=) c.5414A= (p.Asn1805=) c.5309A= (p.Asn1770=) | |
| 2 | g.26461861T>A | CA346131601 | OTOF | c.5368A>T (p.Asn1790Tyr) c.3067A>T (p.Asn1023Tyr) c.3127A>T (p.Asn1043Tyr) c.3298A>T (p.Asn1100Tyr) c.5353A>T (p.Asn1785Tyr) c.5413A>T (p.Asn1805Tyr) c.5308A>T (p.Asn1770Tyr) | |
| 2 | g.26461861T>C | CA346131602 | OTOF | c.5368A>G (p.Asn1790Asp) c.3067A>G (p.Asn1023Asp) c.3127A>G (p.Asn1043Asp) c.3298A>G (p.Asn1100Asp) c.5353A>G (p.Asn1785Asp) c.5413A>G (p.Asn1805Asp) c.5308A>G (p.Asn1770Asp) | |
| 2 | g.26461861T>G | CA346131603 | OTOF | c.5368A>C (p.Asn1790His) c.3067A>C (p.Asn1023His) c.3127A>C (p.Asn1043His) c.3298A>C (p.Asn1100His) c.5353A>C (p.Asn1785His) c.5413A>C (p.Asn1805His) c.5308A>C (p.Asn1770His) | |
| 2 | g.26461862G>A | CA1562838 | OTOF | c.5367C>T (p.Phe1789=) c.3066C>T (p.Phe1022=) c.3126C>T (p.Phe1042=) c.3297C>T (p.Phe1099=) c.5352C>T (p.Phe1784=) c.5412C>T (p.Phe1804=) c.5307C>T (p.Phe1769=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461862G>C | CA346131606 | OTOF | c.5367C>G (p.Phe1789Leu) c.3066C>G (p.Phe1022Leu) c.3126C>G (p.Phe1042Leu) c.3297C>G (p.Phe1099Leu) c.5352C>G (p.Phe1784Leu) c.5412C>G (p.Phe1804Leu) c.5307C>G (p.Phe1769Leu) | |
| 2 | g.26461862G= | CA1239825469 | OTOF | c.5367C= (p.Phe1789=) c.3066C= (p.Phe1022=) c.3126C= (p.Phe1042=) c.3297C= (p.Phe1099=) c.5352C= (p.Phe1784=) c.5412C= (p.Phe1804=) c.5307C= (p.Phe1769=) | |
| 2 | g.26461862G>T | CA346131607 | OTOF | c.5367C>A (p.Phe1789Leu) c.3066C>A (p.Phe1022Leu) c.3126C>A (p.Phe1042Leu) c.3297C>A (p.Phe1099Leu) c.5352C>A (p.Phe1784Leu) c.5412C>A (p.Phe1804Leu) c.5307C>A (p.Phe1769Leu) | |
| 2 | g.26461863A>C | CA346131609 | OTOF | c.5366T>G (p.Phe1789Cys) c.3065T>G (p.Phe1022Cys) c.3125T>G (p.Phe1042Cys) c.3296T>G (p.Phe1099Cys) c.5351T>G (p.Phe1784Cys) c.5411T>G (p.Phe1804Cys) c.5306T>G (p.Phe1769Cys) | |
| 2 | g.26461863A>G | CA346131610 | OTOF | c.5366T>C (p.Phe1789Ser) c.3065T>C (p.Phe1022Ser) c.3125T>C (p.Phe1042Ser) c.3296T>C (p.Phe1099Ser) c.5351T>C (p.Phe1784Ser) c.5411T>C (p.Phe1804Ser) c.5306T>C (p.Phe1769Ser) | |
| 2 | g.26461863A>T | CA346131612 | OTOF | c.5366T>A (p.Phe1789Tyr) c.3065T>A (p.Phe1022Tyr) c.3125T>A (p.Phe1042Tyr) c.3296T>A (p.Phe1099Tyr) c.5351T>A (p.Phe1784Tyr) c.5411T>A (p.Phe1804Tyr) c.5306T>A (p.Phe1769Tyr) | |
| 2 | g.26461864A>C | CA346131613 | OTOF | c.5365T>G (p.Phe1789Val) c.3064T>G (p.Phe1022Val) c.3124T>G (p.Phe1042Val) c.3295T>G (p.Phe1099Val) c.5350T>G (p.Phe1784Val) c.5410T>G (p.Phe1804Val) c.5305T>G (p.Phe1769Val) | |
| 2 | g.26461864A>G | CA346131615 | OTOF | c.5365T>C (p.Phe1789Leu) c.3064T>C (p.Phe1022Leu) c.3124T>C (p.Phe1042Leu) c.3295T>C (p.Phe1099Leu) c.5350T>C (p.Phe1784Leu) c.5410T>C (p.Phe1804Leu) c.5305T>C (p.Phe1769Leu) | |
| 2 | g.26461864A>T | CA346131616 | OTOF | c.5365T>A (p.Phe1789Ile) c.3064T>A (p.Phe1022Ile) c.3124T>A (p.Phe1042Ile) c.3295T>A (p.Phe1099Ile) c.5350T>A (p.Phe1784Ile) c.5410T>A (p.Phe1804Ile) c.5305T>A (p.Phe1769Ile) | |
| 2 | g.26461865G>A | CA44409203 | OTOF | c.5364C>T (p.Asn1788=) c.3063C>T (p.Asn1021=) c.3123C>T (p.Asn1041=) c.3294C>T (p.Asn1098=) c.5349C>T (p.Asn1783=) c.5409C>T (p.Asn1803=) c.5304C>T (p.Asn1768=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461865G>C | CA346131619 | OTOF | c.5364C>G (p.Asn1788Lys) c.3063C>G (p.Asn1021Lys) c.3123C>G (p.Asn1041Lys) c.3294C>G (p.Asn1098Lys) c.5349C>G (p.Asn1783Lys) c.5409C>G (p.Asn1803Lys) c.5304C>G (p.Asn1768Lys) | |
| 2 | g.26461865G= | CA1239825470 | OTOF | c.5364C= (p.Asn1788=) c.3063C= (p.Asn1021=) c.3123C= (p.Asn1041=) c.3294C= (p.Asn1098=) c.5349C= (p.Asn1783=) c.5409C= (p.Asn1803=) c.5304C= (p.Asn1768=) | |
| 2 | g.26461865G>T | CA346131618 | OTOF | c.5364C>A (p.Asn1788Lys) c.3063C>A (p.Asn1021Lys) c.3123C>A (p.Asn1041Lys) c.3294C>A (p.Asn1098Lys) c.5349C>A (p.Asn1783Lys) c.5409C>A (p.Asn1803Lys) c.5304C>A (p.Asn1768Lys) | |
| 2 | g.26461866T>A | CA346131621 | OTOF | c.5363A>T (p.Asn1788Ile) c.3062A>T (p.Asn1021Ile) c.3122A>T (p.Asn1041Ile) c.3293A>T (p.Asn1098Ile) c.5348A>T (p.Asn1783Ile) c.5408A>T (p.Asn1803Ile) c.5303A>T (p.Asn1768Ile) | gnomAD v4 |
| 2 | g.26461866T>C | CA346131625 | OTOF | c.5363A>G (p.Asn1788Ser) c.3062A>G (p.Asn1021Ser) c.3122A>G (p.Asn1041Ser) c.3293A>G (p.Asn1098Ser) c.5348A>G (p.Asn1783Ser) c.5408A>G (p.Asn1803Ser) c.5303A>G (p.Asn1768Ser) | |
| 2 | g.26461866T>G | CA346131623 | OTOF | c.5363A>C (p.Asn1788Thr) c.3062A>C (p.Asn1021Thr) c.3122A>C (p.Asn1041Thr) c.3293A>C (p.Asn1098Thr) c.5348A>C (p.Asn1783Thr) c.5408A>C (p.Asn1803Thr) c.5303A>C (p.Asn1768Thr) | |
| 2 | g.26461867T>A | CA346131626 | OTOF | c.5362A>T (p.Asn1788Tyr) c.3061A>T (p.Asn1021Tyr) c.3121A>T (p.Asn1041Tyr) c.3292A>T (p.Asn1098Tyr) c.5347A>T (p.Asn1783Tyr) c.5407A>T (p.Asn1803Tyr) c.5302A>T (p.Asn1768Tyr) | |
| 2 | g.26461867T>C | CA346131629 | OTOF | c.5362A>G (p.Asn1788Asp) c.3061A>G (p.Asn1021Asp) c.3121A>G (p.Asn1041Asp) c.3292A>G (p.Asn1098Asp) c.5347A>G (p.Asn1783Asp) c.5407A>G (p.Asn1803Asp) c.5302A>G (p.Asn1768Asp) | |
| 2 | g.26461867T>G | CA346131628 | OTOF | c.5362A>C (p.Asn1788His) c.3061A>C (p.Asn1021His) c.3121A>C (p.Asn1041His) c.3292A>C (p.Asn1098His) c.5347A>C (p.Asn1783His) c.5407A>C (p.Asn1803His) c.5302A>C (p.Asn1768His) | |
| 2 | g.26461868G>A | CA425359378 | OTOF | c.5361C>T (p.Gly1787=) c.3060C>T (p.Gly1020=) c.3120C>T (p.Gly1040=) c.3291C>T (p.Gly1097=) c.5346C>T (p.Gly1782=) c.5406C>T (p.Gly1802=) c.5301C>T (p.Gly1767=) |