OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26461802_26461816del | CA2749240303 | OTOF | c.5417_5431del (p.Ile1806_Lys1810del) c.3116_3130del (p.Ile1039_Lys1043del) c.3176_3190del (p.Ile1059_Lys1063del) c.3347_3361del (p.Ile1116_Lys1120del) c.5402_5416del (p.Ile1801_Lys1805del) c.5462_5476del (p.Ile1821_Lys1825del) c.5357_5371del (p.Ile1786_Lys1790del) | |
| 2 | g.26461800_26461829del | CA2658232651 | OTOF | c.5401_5430del (p.Ala1801_Lys1810del) c.3100_3129del (p.Ala1034_Lys1043del) c.3160_3189del (p.Ala1054_Lys1063del) c.3331_3360del (p.Ala1111_Lys1120del) c.5386_5415del (p.Ala1796_Lys1805del) c.5446_5475del (p.Ala1816_Lys1825del) c.5341_5370del (p.Ala1781_Lys1790del) | gnomAD v4 |
| 2 | g.26461802G>A | CA425359340 | OTOF | c.5427C>T (p.Ser1809=) c.3126C>T (p.Ser1042=) c.3186C>T (p.Ser1062=) c.3357C>T (p.Ser1119=) c.5412C>T (p.Ser1804=) c.5472C>T (p.Ser1824=) c.5367C>T (p.Ser1789=) | COSMIC COSMIC COSMIC |
| 2 | g.26461802G>C | CA425359341 | OTOF | c.5427C>G (p.Ser1809=) c.3126C>G (p.Ser1042=) c.3186C>G (p.Ser1062=) c.3357C>G (p.Ser1119=) c.5412C>G (p.Ser1804=) c.5472C>G (p.Ser1824=) c.5367C>G (p.Ser1789=) | |
| 2 | g.26461802G>T | CA425359342 | OTOF | c.5427C>A (p.Ser1809=) c.3126C>A (p.Ser1042=) c.3186C>A (p.Ser1062=) c.3357C>A (p.Ser1119=) c.5412C>A (p.Ser1804=) c.5472C>A (p.Ser1824=) c.5367C>A (p.Ser1789=) | |
| 2 | g.26461803G>A | CA346131478 | OTOF | c.5426C>T (p.Ser1809Phe) c.3125C>T (p.Ser1042Phe) c.3185C>T (p.Ser1062Phe) c.3356C>T (p.Ser1119Phe) c.5411C>T (p.Ser1804Phe) c.5471C>T (p.Ser1824Phe) c.5366C>T (p.Ser1789Phe) | gnomAD v4 |
| 2 | g.26461803G>C | CA346131479 | OTOF | c.5426C>G (p.Ser1809Cys) c.3125C>G (p.Ser1042Cys) c.3185C>G (p.Ser1062Cys) c.3356C>G (p.Ser1119Cys) c.5411C>G (p.Ser1804Cys) c.5471C>G (p.Ser1824Cys) c.5366C>G (p.Ser1789Cys) | |
| 2 | g.26461803G>T | CA346131480 | OTOF | c.5426C>A (p.Ser1809Tyr) c.3125C>A (p.Ser1042Tyr) c.3185C>A (p.Ser1062Tyr) c.3356C>A (p.Ser1119Tyr) c.5411C>A (p.Ser1804Tyr) c.5471C>A (p.Ser1824Tyr) c.5366C>A (p.Ser1789Tyr) | |
| 2 | g.26461804A= | CA1239825436 | OTOF | c.5425T= (p.Ser1809=) c.3124T= (p.Ser1042=) c.3184T= (p.Ser1062=) c.3355T= (p.Ser1119=) c.5410T= (p.Ser1804=) c.5470T= (p.Ser1824=) c.5365T= (p.Ser1789=) | |
| 2 | g.26461804A>C | CA1562826 | OTOF | c.5425T>G (p.Ser1809Ala) c.3124T>G (p.Ser1042Ala) c.3184T>G (p.Ser1062Ala) c.3355T>G (p.Ser1119Ala) c.5410T>G (p.Ser1804Ala) c.5470T>G (p.Ser1824Ala) c.5365T>G (p.Ser1789Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461804A>G | CA346131482 | OTOF | c.5425T>C (p.Ser1809Pro) c.3124T>C (p.Ser1042Pro) c.3184T>C (p.Ser1062Pro) c.3355T>C (p.Ser1119Pro) c.5410T>C (p.Ser1804Pro) c.5470T>C (p.Ser1824Pro) c.5365T>C (p.Ser1789Pro) | |
| 2 | g.26461804A>T | CA346131481 | OTOF | c.5425T>A (p.Ser1809Thr) c.3124T>A (p.Ser1042Thr) c.3184T>A (p.Ser1062Thr) c.3355T>A (p.Ser1119Thr) c.5410T>A (p.Ser1804Thr) c.5470T>A (p.Ser1824Thr) c.5365T>A (p.Ser1789Thr) | |
| 2 | g.26461805G>A | CA425359343 | OTOF | c.5424C>T (p.Ile1808=) c.3123C>T (p.Ile1041=) c.3183C>T (p.Ile1061=) c.3354C>T (p.Ile1118=) c.5409C>T (p.Ile1803=) c.5469C>T (p.Ile1823=) c.5364C>T (p.Ile1788=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461805G>C | CA346131483 | OTOF | c.5424C>G (p.Ile1808Met) c.3123C>G (p.Ile1041Met) c.3183C>G (p.Ile1061Met) c.3354C>G (p.Ile1118Met) c.5409C>G (p.Ile1803Met) c.5469C>G (p.Ile1823Met) c.5364C>G (p.Ile1788Met) | |
| 2 | g.26461805G= | CA1239825437 | OTOF | c.5424C= (p.Ile1808=) c.3123C= (p.Ile1041=) c.3183C= (p.Ile1061=) c.3354C= (p.Ile1118=) c.5409C= (p.Ile1803=) c.5469C= (p.Ile1823=) c.5364C= (p.Ile1788=) | |
| 2 | g.26461805G>T | CA425359344 | OTOF | c.5424C>A (p.Ile1808=) c.3123C>A (p.Ile1041=) c.3183C>A (p.Ile1061=) c.3354C>A (p.Ile1118=) c.5409C>A (p.Ile1803=) c.5469C>A (p.Ile1823=) c.5364C>A (p.Ile1788=) | |
| 2 | g.26461806A= | CA1239825438 | OTOF | c.5423T= (p.Ile1808=) c.3122T= (p.Ile1041=) c.3182T= (p.Ile1061=) c.3353T= (p.Ile1118=) c.5408T= (p.Ile1803=) c.5468T= (p.Ile1823=) c.5363T= (p.Ile1788=) | |
| 2 | g.26461806A>C | CA346131484 | OTOF | c.5423T>G (p.Ile1808Ser) c.3122T>G (p.Ile1041Ser) c.3182T>G (p.Ile1061Ser) c.3353T>G (p.Ile1118Ser) c.5408T>G (p.Ile1803Ser) c.5468T>G (p.Ile1823Ser) c.5363T>G (p.Ile1788Ser) | |
| 2 | g.26461806A>G | CA346131485 | OTOF | c.5423T>C (p.Ile1808Thr) c.3122T>C (p.Ile1041Thr) c.3182T>C (p.Ile1061Thr) c.3353T>C (p.Ile1118Thr) c.5408T>C (p.Ile1803Thr) c.5468T>C (p.Ile1823Thr) c.5363T>C (p.Ile1788Thr) | |
| 2 | g.26461806A>T | CA346131486 | OTOF | c.5423T>A (p.Ile1808Asn) c.3122T>A (p.Ile1041Asn) c.3182T>A (p.Ile1061Asn) c.3353T>A (p.Ile1118Asn) c.5408T>A (p.Ile1803Asn) c.5468T>A (p.Ile1823Asn) c.5363T>A (p.Ile1788Asn) | ClinVar dbSNP gnomAD v4 |
| 2 | g.26461807T>A | CA346131487 | OTOF | c.5422A>T (p.Ile1808Phe) c.3121A>T (p.Ile1041Phe) c.3181A>T (p.Ile1061Phe) c.3352A>T (p.Ile1118Phe) c.5407A>T (p.Ile1803Phe) c.5467A>T (p.Ile1823Phe) c.5362A>T (p.Ile1788Phe) | |
| 2 | g.26461807T>C | CA346131488 | OTOF | c.5422A>G (p.Ile1808Val) c.3121A>G (p.Ile1041Val) c.3181A>G (p.Ile1061Val) c.3352A>G (p.Ile1118Val) c.5407A>G (p.Ile1803Val) c.5467A>G (p.Ile1823Val) c.5362A>G (p.Ile1788Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461807T>G | CA1562827 | OTOF | c.5422A>C (p.Ile1808Leu) c.3121A>C (p.Ile1041Leu) c.3181A>C (p.Ile1061Leu) c.3352A>C (p.Ile1118Leu) c.5407A>C (p.Ile1803Leu) c.5467A>C (p.Ile1823Leu) c.5362A>C (p.Ile1788Leu) | dbSNP ExAC gnomAD v2 |
| 2 | g.26461807T= | CA1239825439 | OTOF | c.5422A= (p.Ile1808=) c.3121A= (p.Ile1041=) c.3181A= (p.Ile1061=) c.3352A= (p.Ile1118=) c.5407A= (p.Ile1803=) c.5467A= (p.Ile1823=) c.5362A= (p.Ile1788=) | |
| 2 | g.26461808G>A | CA425359345 | OTOF | c.5421C>T (p.Val1807=) c.3120C>T (p.Val1040=) c.3180C>T (p.Val1060=) c.3351C>T (p.Val1117=) c.5406C>T (p.Val1802=) c.5466C>T (p.Val1822=) c.5361C>T (p.Val1787=) | |
| 2 | g.26461808G>C | CA425359346 | OTOF | c.5421C>G (p.Val1807=) c.3120C>G (p.Val1040=) c.3180C>G (p.Val1060=) c.3351C>G (p.Val1117=) c.5406C>G (p.Val1802=) c.5466C>G (p.Val1822=) c.5361C>G (p.Val1787=) | |
| 2 | g.26461808G>T | CA425359347 | OTOF | c.5421C>A (p.Val1807=) c.3120C>A (p.Val1040=) c.3180C>A (p.Val1060=) c.3351C>A (p.Val1117=) c.5406C>A (p.Val1802=) c.5466C>A (p.Val1822=) c.5361C>A (p.Val1787=) | |
| 2 | g.26461810_26461812del | CA2576698812 | OTOF | c.5419_5421del (p.Val1807del) c.3118_3120del (p.Val1040del) c.3178_3180del (p.Val1060del) c.3349_3351del (p.Val1117del) c.5404_5406del (p.Val1802del) c.5464_5466del (p.Val1822del) c.5359_5361del (p.Val1787del) | gnomAD v4 |
| 2 | g.26461809A>C | CA346131489 | OTOF | c.5420T>G (p.Val1807Gly) c.3119T>G (p.Val1040Gly) c.3179T>G (p.Val1060Gly) c.3350T>G (p.Val1117Gly) c.5405T>G (p.Val1802Gly) c.5465T>G (p.Val1822Gly) c.5360T>G (p.Val1787Gly) | |
| 2 | g.26461809A>G | CA346131490 | OTOF | c.5420T>C (p.Val1807Ala) c.3119T>C (p.Val1040Ala) c.3179T>C (p.Val1060Ala) c.3350T>C (p.Val1117Ala) c.5405T>C (p.Val1802Ala) c.5465T>C (p.Val1822Ala) c.5360T>C (p.Val1787Ala) | |
| 2 | g.26461809A>T | CA346131491 | OTOF | c.5420T>A (p.Val1807Asp) c.3119T>A (p.Val1040Asp) c.3179T>A (p.Val1060Asp) c.3350T>A (p.Val1117Asp) c.5405T>A (p.Val1802Asp) c.5465T>A (p.Val1822Asp) c.5360T>A (p.Val1787Asp) | |
| 2 | g.26461810C>A | CA346131492 | OTOF | c.5419G>T (p.Val1807Phe) c.3118G>T (p.Val1040Phe) c.3178G>T (p.Val1060Phe) c.3349G>T (p.Val1117Phe) c.5404G>T (p.Val1802Phe) c.5464G>T (p.Val1822Phe) c.5359G>T (p.Val1787Phe) | dbSNP |
| 2 | g.26461810C= | CA1239825440 | OTOF | c.5419G= (p.Val1807=) c.3118G= (p.Val1040=) c.3178G= (p.Val1060=) c.3349G= (p.Val1117=) c.5404G= (p.Val1802=) c.5464G= (p.Val1822=) c.5359G= (p.Val1787=) | |
| 2 | g.26461810C>G | CA346131493 | OTOF | c.5419G>C (p.Val1807Leu) c.3118G>C (p.Val1040Leu) c.3178G>C (p.Val1060Leu) c.3349G>C (p.Val1117Leu) c.5404G>C (p.Val1802Leu) c.5464G>C (p.Val1822Leu) c.5359G>C (p.Val1787Leu) | |
| 2 | g.26461810C>T | CA1562828 | OTOF | c.5419G>A (p.Val1807Ile) c.3118G>A (p.Val1040Ile) c.3178G>A (p.Val1060Ile) c.3349G>A (p.Val1117Ile) c.5404G>A (p.Val1802Ile) c.5464G>A (p.Val1822Ile) c.5359G>A (p.Val1787Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461811G>A | CA142934 | OTOF | c.5418C>T (p.Ile1806=) c.3117C>T (p.Ile1039=) c.3177C>T (p.Ile1059=) c.3348C>T (p.Ile1116=) c.5403C>T (p.Ile1801=) c.5463C>T (p.Ile1821=) c.5358C>T (p.Ile1786=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26461811G>C | CA1562829 | OTOF | c.5418C>G (p.Ile1806Met) c.3117C>G (p.Ile1039Met) c.3177C>G (p.Ile1059Met) c.3348C>G (p.Ile1116Met) c.5403C>G (p.Ile1801Met) c.5463C>G (p.Ile1821Met) c.5358C>G (p.Ile1786Met) | dbSNP ExAC |
| 2 | g.26461811G= | CA1239825441 | OTOF | c.5418C= (p.Ile1806=) c.3117C= (p.Ile1039=) c.3177C= (p.Ile1059=) c.3348C= (p.Ile1116=) c.5403C= (p.Ile1801=) c.5463C= (p.Ile1821=) c.5358C= (p.Ile1786=) | |
| 2 | g.26461811G>T | CA1562830 | OTOF | c.5418C>A (p.Ile1806=) c.3117C>A (p.Ile1039=) c.3177C>A (p.Ile1059=) c.3348C>A (p.Ile1116=) c.5403C>A (p.Ile1801=) c.5463C>A (p.Ile1821=) c.5358C>A (p.Ile1786=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.26461812A= | CA1239825442 | OTOF | c.5417T= (p.Ile1806=) c.3116T= (p.Ile1039=) c.3176T= (p.Ile1059=) c.3347T= (p.Ile1116=) c.5402T= (p.Ile1801=) c.5462T= (p.Ile1821=) c.5357T= (p.Ile1786=) | |
| 2 | g.26461812A>C | CA346131494 | OTOF | c.5417T>G (p.Ile1806Ser) c.3116T>G (p.Ile1039Ser) c.3176T>G (p.Ile1059Ser) c.3347T>G (p.Ile1116Ser) c.5402T>G (p.Ile1801Ser) c.5462T>G (p.Ile1821Ser) c.5357T>G (p.Ile1786Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461812A>G | CA346131495 | OTOF | c.5417T>C (p.Ile1806Thr) c.3116T>C (p.Ile1039Thr) c.3176T>C (p.Ile1059Thr) c.3347T>C (p.Ile1116Thr) c.5402T>C (p.Ile1801Thr) c.5462T>C (p.Ile1821Thr) c.5357T>C (p.Ile1786Thr) | gnomAD v4 |
| 2 | g.26461812A>T | CA346131496 | OTOF | c.5417T>A (p.Ile1806Asn) c.3116T>A (p.Ile1039Asn) c.3176T>A (p.Ile1059Asn) c.3347T>A (p.Ile1116Asn) c.5402T>A (p.Ile1801Asn) c.5462T>A (p.Ile1821Asn) c.5357T>A (p.Ile1786Asn) | |
| 2 | g.26461813T>A | CA346131497 | OTOF | c.5416A>T (p.Ile1806Phe) c.3115A>T (p.Ile1039Phe) c.3175A>T (p.Ile1059Phe) c.3346A>T (p.Ile1116Phe) c.5401A>T (p.Ile1801Phe) c.5461A>T (p.Ile1821Phe) c.5356A>T (p.Ile1786Phe) | |
| 2 | g.26461813T>C | CA346131498 | OTOF | c.5416A>G (p.Ile1806Val) c.3115A>G (p.Ile1039Val) c.3175A>G (p.Ile1059Val) c.3346A>G (p.Ile1116Val) c.5401A>G (p.Ile1801Val) c.5461A>G (p.Ile1821Val) c.5356A>G (p.Ile1786Val) | |
| 2 | g.26461813T>G | CA346131499 | OTOF | c.5416A>C (p.Ile1806Leu) c.3115A>C (p.Ile1039Leu) c.3175A>C (p.Ile1059Leu) c.3346A>C (p.Ile1116Leu) c.5401A>C (p.Ile1801Leu) c.5461A>C (p.Ile1821Leu) c.5356A>C (p.Ile1786Leu) | |
| 2 | g.26461814C>A | CA346131500 | OTOF | c.5415G>T (p.Lys1805Asn) c.3114G>T (p.Lys1038Asn) c.3174G>T (p.Lys1058Asn) c.3345G>T (p.Lys1115Asn) c.5400G>T (p.Lys1800Asn) c.5460G>T (p.Lys1820Asn) c.5355G>T (p.Lys1785Asn) | |
| 2 | g.26461814C>G | CA346131501 | OTOF | c.5415G>C (p.Lys1805Asn) c.3114G>C (p.Lys1038Asn) c.3174G>C (p.Lys1058Asn) c.3345G>C (p.Lys1115Asn) c.5400G>C (p.Lys1800Asn) c.5460G>C (p.Lys1820Asn) c.5355G>C (p.Lys1785Asn) | |
| 2 | g.26461814C>T | CA425359348 | OTOF | c.5415G>A (p.Lys1805=) c.3114G>A (p.Lys1038=) c.3174G>A (p.Lys1058=) c.3345G>A (p.Lys1115=) c.5400G>A (p.Lys1800=) c.5460G>A (p.Lys1820=) c.5355G>A (p.Lys1785=) | |
| 2 | g.26461815T>A | CA44409170 | OTOF | c.5414A>T (p.Lys1805Met) c.3113A>T (p.Lys1038Met) c.3173A>T (p.Lys1058Met) c.3344A>T (p.Lys1115Met) c.5399A>T (p.Lys1800Met) c.5459A>T (p.Lys1820Met) c.5354A>T (p.Lys1785Met) | dbSNP gnomAD v2 |
| 2 | g.26461815T>C | CA346131502 | OTOF | c.5414A>G (p.Lys1805Arg) c.3113A>G (p.Lys1038Arg) c.3173A>G (p.Lys1058Arg) c.3344A>G (p.Lys1115Arg) c.5399A>G (p.Lys1800Arg) c.5459A>G (p.Lys1820Arg) c.5354A>G (p.Lys1785Arg) | |
| 2 | g.26461815T>G | CA346131503 | OTOF | c.5414A>C (p.Lys1805Thr) c.3113A>C (p.Lys1038Thr) c.3173A>C (p.Lys1058Thr) c.3344A>C (p.Lys1115Thr) c.5399A>C (p.Lys1800Thr) c.5459A>C (p.Lys1820Thr) c.5354A>C (p.Lys1785Thr) | |
| 2 | g.26461815T= | CA1239825443 | OTOF | c.5414A= (p.Lys1805=) c.3113A= (p.Lys1038=) c.3173A= (p.Lys1058=) c.3344A= (p.Lys1115=) c.5399A= (p.Lys1800=) c.5459A= (p.Lys1820=) c.5354A= (p.Lys1785=) | |
| 2 | g.26461816T>A | CA346131505 | OTOF | c.5413A>T (p.Lys1805Ter) c.3112A>T (p.Lys1038Ter) c.3172A>T (p.Lys1058Ter) c.3343A>T (p.Lys1115Ter) c.5398A>T (p.Lys1800Ter) c.5458A>T (p.Lys1820Ter) c.5353A>T (p.Lys1785Ter) | |
| 2 | g.26461816T>C | CA346131506 | OTOF | c.5413A>G (p.Lys1805Glu) c.3112A>G (p.Lys1038Glu) c.3172A>G (p.Lys1058Glu) c.3343A>G (p.Lys1115Glu) c.5398A>G (p.Lys1800Glu) c.5458A>G (p.Lys1820Glu) c.5353A>G (p.Lys1785Glu) | |
| 2 | g.26461816T>G | CA346131504 | OTOF | c.5413A>C (p.Lys1805Gln) c.3112A>C (p.Lys1038Gln) c.3172A>C (p.Lys1058Gln) c.3343A>C (p.Lys1115Gln) c.5398A>C (p.Lys1800Gln) c.5458A>C (p.Lys1820Gln) c.5353A>C (p.Lys1785Gln) | |
| 2 | g.26461816_26461819delinsTCTC | CA1239825444 | OTOF | c.5410_5413delinsGAGA (p.Glu1804=) c.3109_3112delinsGAGA (p.Glu1037=) c.3169_3172delinsGAGA (p.Glu1057=) c.3340_3343delinsGAGA (p.Glu1114=) c.5395_5398delinsGAGA (p.Glu1799=) c.5455_5458delinsGAGA (p.Glu1819=) c.5350_5353delinsGAGA (p.Glu1784=) | |
| 2 | g.26461817C>A | CA346131507 | OTOF | c.5412G>T (p.Glu1804Asp) c.3111G>T (p.Glu1037Asp) c.3171G>T (p.Glu1057Asp) c.3342G>T (p.Glu1114Asp) c.5397G>T (p.Glu1799Asp) c.5457G>T (p.Glu1819Asp) c.5352G>T (p.Glu1784Asp) | |
| 2 | g.26461817C= | CA1239825445 | OTOF | c.5412G= (p.Glu1804=) c.3111G= (p.Glu1037=) c.3171G= (p.Glu1057=) c.3342G= (p.Glu1114=) c.5397G= (p.Glu1799=) c.5457G= (p.Glu1819=) c.5352G= (p.Glu1784=) | |
| 2 | g.26461817C>G | CA346131508 | OTOF | c.5412G>C (p.Glu1804Asp) c.3111G>C (p.Glu1037Asp) c.3171G>C (p.Glu1057Asp) c.3342G>C (p.Glu1114Asp) c.5397G>C (p.Glu1799Asp) c.5457G>C (p.Glu1819Asp) c.5352G>C (p.Glu1784Asp) | |
| 2 | g.26461817C>T | CA44409177 | OTOF | c.5412G>A (p.Glu1804=) c.3111G>A (p.Glu1037=) c.3171G>A (p.Glu1057=) c.3342G>A (p.Glu1114=) c.5397G>A (p.Glu1799=) c.5457G>A (p.Glu1819=) c.5352G>A (p.Glu1784=) | dbSNP |
| 2 | g.26461821_26461823del | CA345137 | OTOF | c.5410_5412del (p.Glu1804del) c.3109_3111del (p.Glu1037del) c.3169_3171del (p.Glu1057del) c.3340_3342del (p.Glu1114del) c.5395_5397del (p.Glu1799del) c.5455_5457del (p.Glu1819del) c.5350_5352del (p.Glu1784del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461818T>A | CA346131509 | OTOF | c.5411A>T (p.Glu1804Val) c.3110A>T (p.Glu1037Val) c.3170A>T (p.Glu1057Val) c.3341A>T (p.Glu1114Val) c.5396A>T (p.Glu1799Val) c.5456A>T (p.Glu1819Val) c.5351A>T (p.Glu1784Val) | |
| 2 | g.26461818T>C | CA346131510 | OTOF | c.5411A>G (p.Glu1804Gly) c.3110A>G (p.Glu1037Gly) c.3170A>G (p.Glu1057Gly) c.3341A>G (p.Glu1114Gly) c.5396A>G (p.Glu1799Gly) c.5456A>G (p.Glu1819Gly) c.5351A>G (p.Glu1784Gly) | |
| 2 | g.26461818T>G | CA346131511 | OTOF | c.5411A>C (p.Glu1804Ala) c.3110A>C (p.Glu1037Ala) c.3170A>C (p.Glu1057Ala) c.3341A>C (p.Glu1114Ala) c.5396A>C (p.Glu1799Ala) c.5456A>C (p.Glu1819Ala) c.5351A>C (p.Glu1784Ala) | |
| 2 | g.26461819C>A | CA346131512 | OTOF | c.5410G>T (p.Glu1804Ter) c.3109G>T (p.Glu1037Ter) c.3169G>T (p.Glu1057Ter) c.3340G>T (p.Glu1114Ter) c.5395G>T (p.Glu1799Ter) c.5455G>T (p.Glu1819Ter) c.5350G>T (p.Glu1784Ter) | |
| 2 | g.26461819C>G | CA346131513 | OTOF | c.5410G>C (p.Glu1804Gln) c.3109G>C (p.Glu1037Gln) c.3169G>C (p.Glu1057Gln) c.3340G>C (p.Glu1114Gln) c.5395G>C (p.Glu1799Gln) c.5455G>C (p.Glu1819Gln) c.5350G>C (p.Glu1784Gln) | |
| 2 | g.26461819C>T | CA346131514 | OTOF | c.5410G>A (p.Glu1804Lys) c.3109G>A (p.Glu1037Lys) c.3169G>A (p.Glu1057Lys) c.3340G>A (p.Glu1114Lys) c.5395G>A (p.Glu1799Lys) c.5455G>A (p.Glu1819Lys) c.5350G>A (p.Glu1784Lys) | |
| 2 | g.26461820C>A | CA346131515 | OTOF | c.5409G>T (p.Glu1803Asp) c.3108G>T (p.Glu1036Asp) c.3168G>T (p.Glu1056Asp) c.3339G>T (p.Glu1113Asp) c.5394G>T (p.Glu1798Asp) c.5454G>T (p.Glu1818Asp) c.5349G>T (p.Glu1783Asp) | |
| 2 | g.26461820C>G | CA346131516 | OTOF | c.5409G>C (p.Glu1803Asp) c.3108G>C (p.Glu1036Asp) c.3168G>C (p.Glu1056Asp) c.3339G>C (p.Glu1113Asp) c.5394G>C (p.Glu1798Asp) c.5454G>C (p.Glu1818Asp) c.5349G>C (p.Glu1783Asp) | |
| 2 | g.26461820C>T | CA425359349 | OTOF | c.5409G>A (p.Glu1803=) c.3108G>A (p.Glu1036=) c.3168G>A (p.Glu1056=) c.3339G>A (p.Glu1113=) c.5394G>A (p.Glu1798=) c.5454G>A (p.Glu1818=) c.5349G>A (p.Glu1783=) | gnomAD v4 |
| 2 | g.26461821T>A | CA346131517 | OTOF | c.5408A>T (p.Glu1803Val) c.3107A>T (p.Glu1036Val) c.3167A>T (p.Glu1056Val) c.3338A>T (p.Glu1113Val) c.5393A>T (p.Glu1798Val) c.5453A>T (p.Glu1818Val) c.5348A>T (p.Glu1783Val) | |
| 2 | g.26461821T>C | CA346131518 | OTOF | c.5408A>G (p.Glu1803Gly) c.3107A>G (p.Glu1036Gly) c.3167A>G (p.Glu1056Gly) c.3338A>G (p.Glu1113Gly) c.5393A>G (p.Glu1798Gly) c.5453A>G (p.Glu1818Gly) c.5348A>G (p.Glu1783Gly) | |
| 2 | g.26461821T>G | CA346131519 | OTOF | c.5408A>C (p.Glu1803Ala) c.3107A>C (p.Glu1036Ala) c.3167A>C (p.Glu1056Ala) c.3338A>C (p.Glu1113Ala) c.5393A>C (p.Glu1798Ala) c.5453A>C (p.Glu1818Ala) c.5348A>C (p.Glu1783Ala) | dbSNP gnomAD v4 |
| 2 | g.26461821T= | CA1239825446 | OTOF | c.5408A= (p.Glu1803=) c.3107A= (p.Glu1036=) c.3167A= (p.Glu1056=) c.3338A= (p.Glu1113=) c.5393A= (p.Glu1798=) c.5453A= (p.Glu1818=) c.5348A= (p.Glu1783=) | |
| 2 | g.26461822C>A | CA346131520 | OTOF | c.5407G>T (p.Glu1803Ter) c.3106G>T (p.Glu1036Ter) c.3166G>T (p.Glu1056Ter) c.3337G>T (p.Glu1113Ter) c.5392G>T (p.Glu1798Ter) c.5452G>T (p.Glu1818Ter) c.5347G>T (p.Glu1783Ter) | |
| 2 | g.26461822C>G | CA346131521 | OTOF | c.5407G>C (p.Glu1803Gln) c.3106G>C (p.Glu1036Gln) c.3166G>C (p.Glu1056Gln) c.3337G>C (p.Glu1113Gln) c.5392G>C (p.Glu1798Gln) c.5452G>C (p.Glu1818Gln) c.5347G>C (p.Glu1783Gln) | |
| 2 | g.26461822C>T | CA346131522 | OTOF | c.5407G>A (p.Glu1803Lys) c.3106G>A (p.Glu1036Lys) c.3166G>A (p.Glu1056Lys) c.3337G>A (p.Glu1113Lys) c.5392G>A (p.Glu1798Lys) c.5452G>A (p.Glu1818Lys) c.5347G>A (p.Glu1783Lys) | |
| 2 | g.26461823C>A | CA425359350 | OTOF | c.5406G>T (p.Ala1802=) c.3105G>T (p.Ala1035=) c.3165G>T (p.Ala1055=) c.3336G>T (p.Ala1112=) c.5391G>T (p.Ala1797=) c.5451G>T (p.Ala1817=) c.5346G>T (p.Ala1782=) | |
| 2 | g.26461823C= | CA1239825447 | OTOF | c.5406G= (p.Ala1802=) c.3105G= (p.Ala1035=) c.3165G= (p.Ala1055=) c.3336G= (p.Ala1112=) c.5391G= (p.Ala1797=) c.5451G= (p.Ala1817=) c.5346G= (p.Ala1782=) | |
| 2 | g.26461823C>G | CA425359351 | OTOF | c.5406G>C (p.Ala1802=) c.3105G>C (p.Ala1035=) c.3165G>C (p.Ala1055=) c.3336G>C (p.Ala1112=) c.5391G>C (p.Ala1797=) c.5451G>C (p.Ala1817=) c.5346G>C (p.Ala1782=) | |
| 2 | g.26461823C>T | CA1562831 | OTOF | c.5406G>A (p.Ala1802=) c.3105G>A (p.Ala1035=) c.3165G>A (p.Ala1055=) c.3336G>A (p.Ala1112=) c.5391G>A (p.Ala1797=) c.5451G>A (p.Ala1817=) c.5346G>A (p.Ala1782=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26461824G>A | CA1562832 | OTOF | c.5405C>T (p.Ala1802Val) c.3104C>T (p.Ala1035Val) c.3164C>T (p.Ala1055Val) c.3335C>T (p.Ala1112Val) c.5390C>T (p.Ala1797Val) c.5450C>T (p.Ala1817Val) c.5345C>T (p.Ala1782Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461824G>C | CA346131523 | OTOF | c.5405C>G (p.Ala1802Gly) c.3104C>G (p.Ala1035Gly) c.3164C>G (p.Ala1055Gly) c.3335C>G (p.Ala1112Gly) c.5390C>G (p.Ala1797Gly) c.5450C>G (p.Ala1817Gly) c.5345C>G (p.Ala1782Gly) | |
| 2 | g.26461824G= | CA1239825448 | OTOF | c.5405C= (p.Ala1802=) c.3104C= (p.Ala1035=) c.3164C= (p.Ala1055=) c.3335C= (p.Ala1112=) c.5390C= (p.Ala1797=) c.5450C= (p.Ala1817=) c.5345C= (p.Ala1782=) | |
| 2 | g.26461824G>T | CA346131524 | OTOF | c.5405C>A (p.Ala1802Glu) c.3104C>A (p.Ala1035Glu) c.3164C>A (p.Ala1055Glu) c.3335C>A (p.Ala1112Glu) c.5390C>A (p.Ala1797Glu) c.5450C>A (p.Ala1817Glu) c.5345C>A (p.Ala1782Glu) | COSMIC COSMIC COSMIC |
| 2 | g.26461825C>A | CA346131525 | OTOF | c.5404G>T (p.Ala1802Ser) c.3103G>T (p.Ala1035Ser) c.3163G>T (p.Ala1055Ser) c.3334G>T (p.Ala1112Ser) c.5389G>T (p.Ala1797Ser) c.5449G>T (p.Ala1817Ser) c.5344G>T (p.Ala1782Ser) | |
| 2 | g.26461825C>G | CA346131526 | OTOF | c.5404G>C (p.Ala1802Pro) c.3103G>C (p.Ala1035Pro) c.3163G>C (p.Ala1055Pro) c.3334G>C (p.Ala1112Pro) c.5389G>C (p.Ala1797Pro) c.5449G>C (p.Ala1817Pro) c.5344G>C (p.Ala1782Pro) | |
| 2 | g.26461825C>T | CA346131527 | OTOF | c.5404G>A (p.Ala1802Thr) c.3103G>A (p.Ala1035Thr) c.3163G>A (p.Ala1055Thr) c.3334G>A (p.Ala1112Thr) c.5389G>A (p.Ala1797Thr) c.5449G>A (p.Ala1817Thr) c.5344G>A (p.Ala1782Thr) | gnomAD v4 |
| 2 | g.26461826C>A | CA425359352 | OTOF | c.5403G>T (p.Ala1801=) c.3102G>T (p.Ala1034=) c.3162G>T (p.Ala1054=) c.3333G>T (p.Ala1111=) c.5388G>T (p.Ala1796=) c.5448G>T (p.Ala1816=) c.5343G>T (p.Ala1781=) | |
| 2 | g.26461826C= | CA1239825449 | OTOF | c.5403G= (p.Ala1801=) c.3102G= (p.Ala1034=) c.3162G= (p.Ala1054=) c.3333G= (p.Ala1111=) c.5388G= (p.Ala1796=) c.5448G= (p.Ala1816=) c.5343G= (p.Ala1781=) | |
| 2 | g.26461826C>G | CA425359353 | OTOF | c.5403G>C (p.Ala1801=) c.3102G>C (p.Ala1034=) c.3162G>C (p.Ala1054=) c.3333G>C (p.Ala1111=) c.5388G>C (p.Ala1796=) c.5448G>C (p.Ala1816=) c.5343G>C (p.Ala1781=) | |
| 2 | g.26461826C>T | CA1562833 | OTOF | c.5403G>A (p.Ala1801=) c.3102G>A (p.Ala1034=) c.3162G>A (p.Ala1054=) c.3333G>A (p.Ala1111=) c.5388G>A (p.Ala1796=) c.5448G>A (p.Ala1816=) c.5343G>A (p.Ala1781=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461827G>A | CA1562834 | OTOF | c.5402C>T (p.Ala1801Val) c.3101C>T (p.Ala1034Val) c.3161C>T (p.Ala1054Val) c.3332C>T (p.Ala1111Val) c.5387C>T (p.Ala1796Val) c.5447C>T (p.Ala1816Val) c.5342C>T (p.Ala1781Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26461827G>C | CA346131528 | OTOF | c.5402C>G (p.Ala1801Gly) c.3101C>G (p.Ala1034Gly) c.3161C>G (p.Ala1054Gly) c.3332C>G (p.Ala1111Gly) c.5387C>G (p.Ala1796Gly) c.5447C>G (p.Ala1816Gly) c.5342C>G (p.Ala1781Gly) | gnomAD v4 |
| 2 | g.26461827G= | CA1239825450 | OTOF | c.5402C= (p.Ala1801=) c.3101C= (p.Ala1034=) c.3161C= (p.Ala1054=) c.3332C= (p.Ala1111=) c.5387C= (p.Ala1796=) c.5447C= (p.Ala1816=) c.5342C= (p.Ala1781=) | |
| 2 | g.26461827G>T | CA346131529 | OTOF | c.5402C>A (p.Ala1801Glu) c.3101C>A (p.Ala1034Glu) c.3161C>A (p.Ala1054Glu) c.3332C>A (p.Ala1111Glu) c.5387C>A (p.Ala1796Glu) c.5447C>A (p.Ala1816Glu) c.5342C>A (p.Ala1781Glu) | |
| 2 | g.26461828C>A | CA346131530 | OTOF | c.5401G>T (p.Ala1801Ser) c.3100G>T (p.Ala1034Ser) c.3160G>T (p.Ala1054Ser) c.3331G>T (p.Ala1111Ser) c.5386G>T (p.Ala1796Ser) c.5446G>T (p.Ala1816Ser) c.5341G>T (p.Ala1781Ser) | |
| 2 | g.26461828C= | CA1239825451 | OTOF | c.5401G= (p.Ala1801=) c.3100G= (p.Ala1034=) c.3160G= (p.Ala1054=) c.3331G= (p.Ala1111=) c.5386G= (p.Ala1796=) c.5446G= (p.Ala1816=) c.5341G= (p.Ala1781=) | |
| 2 | g.26461828C>G | CA346131531 | OTOF | c.5401G>C (p.Ala1801Pro) c.3100G>C (p.Ala1034Pro) c.3160G>C (p.Ala1054Pro) c.3331G>C (p.Ala1111Pro) c.5386G>C (p.Ala1796Pro) c.5446G>C (p.Ala1816Pro) c.5341G>C (p.Ala1781Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461828C>T | CA346131532 | OTOF | c.5401G>A (p.Ala1801Thr) c.3100G>A (p.Ala1034Thr) c.3160G>A (p.Ala1054Thr) c.3331G>A (p.Ala1111Thr) c.5386G>A (p.Ala1796Thr) c.5446G>A (p.Ala1816Thr) c.5341G>A (p.Ala1781Thr) | dbSNP gnomAD v2 |
| 2 | g.26461829C>A | CA425359354 | OTOF | c.5400G>T (p.Leu1800=) c.3099G>T (p.Leu1033=) c.3159G>T (p.Leu1053=) c.3330G>T (p.Leu1110=) c.5385G>T (p.Leu1795=) c.5445G>T (p.Leu1815=) c.5340G>T (p.Leu1780=) | |
| 2 | g.26461829C>G | CA425359355 | OTOF | c.5400G>C (p.Leu1800=) c.3099G>C (p.Leu1033=) c.3159G>C (p.Leu1053=) c.3330G>C (p.Leu1110=) c.5385G>C (p.Leu1795=) c.5445G>C (p.Leu1815=) c.5340G>C (p.Leu1780=) | |
| 2 | g.26461829C>T | CA425359356 | OTOF | c.5400G>A (p.Leu1800=) c.3099G>A (p.Leu1033=) c.3159G>A (p.Leu1053=) c.3330G>A (p.Leu1110=) c.5385G>A (p.Leu1795=) c.5445G>A (p.Leu1815=) c.5340G>A (p.Leu1780=) | |
| 2 | g.26461830A>C | CA346131533 | OTOF | c.5399T>G (p.Leu1800Arg) c.3098T>G (p.Leu1033Arg) c.3158T>G (p.Leu1053Arg) c.3329T>G (p.Leu1110Arg) c.5384T>G (p.Leu1795Arg) c.5444T>G (p.Leu1815Arg) c.5339T>G (p.Leu1780Arg) | |
| 2 | g.26461830A>G | CA346131535 | OTOF | c.5399T>C (p.Leu1800Pro) c.3098T>C (p.Leu1033Pro) c.3158T>C (p.Leu1053Pro) c.3329T>C (p.Leu1110Pro) c.5384T>C (p.Leu1795Pro) c.5444T>C (p.Leu1815Pro) c.5339T>C (p.Leu1780Pro) | |
| 2 | g.26461830A>T | CA346131534 | OTOF | c.5399T>A (p.Leu1800Gln) c.3098T>A (p.Leu1033Gln) c.3158T>A (p.Leu1053Gln) c.3329T>A (p.Leu1110Gln) c.5384T>A (p.Leu1795Gln) c.5444T>A (p.Leu1815Gln) c.5339T>A (p.Leu1780Gln) | |
| 2 | g.26461831G>A | CA425359357 | OTOF | c.5398C>T (p.Leu1800=) c.3097C>T (p.Leu1033=) c.3157C>T (p.Leu1053=) c.3328C>T (p.Leu1110=) c.5383C>T (p.Leu1795=) c.5443C>T (p.Leu1815=) c.5338C>T (p.Leu1780=) | gnomAD v4 |
| 2 | g.26461831G>C | CA346131536 | OTOF | c.5398C>G (p.Leu1800Val) c.3097C>G (p.Leu1033Val) c.3157C>G (p.Leu1053Val) c.3328C>G (p.Leu1110Val) c.5383C>G (p.Leu1795Val) c.5443C>G (p.Leu1815Val) c.5338C>G (p.Leu1780Val) | |
| 2 | g.26461831G>T | CA346131537 | OTOF | c.5398C>A (p.Leu1800Met) c.3097C>A (p.Leu1033Met) c.3157C>A (p.Leu1053Met) c.3328C>A (p.Leu1110Met) c.5383C>A (p.Leu1795Met) c.5443C>A (p.Leu1815Met) c.5338C>A (p.Leu1780Met) | |
| 2 | g.26461832G>A | CA425359358 | OTOF | c.5397C>T (p.Tyr1799=) c.3096C>T (p.Tyr1032=) c.3156C>T (p.Tyr1052=) c.3327C>T (p.Tyr1109=) c.5382C>T (p.Tyr1794=) c.5442C>T (p.Tyr1814=) c.5337C>T (p.Tyr1779=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461832G>C | CA346131538 | OTOF | c.5397C>G (p.Tyr1799Ter) c.3096C>G (p.Tyr1032Ter) c.3156C>G (p.Tyr1052Ter) c.3327C>G (p.Tyr1109Ter) c.5382C>G (p.Tyr1794Ter) c.5442C>G (p.Tyr1814Ter) c.5337C>G (p.Tyr1779Ter) | |
| 2 | g.26461832G= | CA1239825452 | OTOF | c.5397C= (p.Tyr1799=) c.3096C= (p.Tyr1032=) c.3156C= (p.Tyr1052=) c.3327C= (p.Tyr1109=) c.5382C= (p.Tyr1794=) c.5442C= (p.Tyr1814=) c.5337C= (p.Tyr1779=) | |
| 2 | g.26461832G>T | CA346131539 | OTOF | c.5397C>A (p.Tyr1799Ter) c.3096C>A (p.Tyr1032Ter) c.3156C>A (p.Tyr1052Ter) c.3327C>A (p.Tyr1109Ter) c.5382C>A (p.Tyr1794Ter) c.5442C>A (p.Tyr1814Ter) c.5337C>A (p.Tyr1779Ter) | |
| 2 | g.26461833T>A | CA1562835 | OTOF | c.5396A>T (p.Tyr1799Phe) c.3095A>T (p.Tyr1032Phe) c.3155A>T (p.Tyr1052Phe) c.3326A>T (p.Tyr1109Phe) c.5381A>T (p.Tyr1794Phe) c.5441A>T (p.Tyr1814Phe) c.5336A>T (p.Tyr1779Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461833T>C | CA346131540 | OTOF | c.5396A>G (p.Tyr1799Cys) c.3095A>G (p.Tyr1032Cys) c.3155A>G (p.Tyr1052Cys) c.3326A>G (p.Tyr1109Cys) c.5381A>G (p.Tyr1794Cys) c.5441A>G (p.Tyr1814Cys) c.5336A>G (p.Tyr1779Cys) | |
| 2 | g.26461833T>G | CA346131541 | OTOF | c.5396A>C (p.Tyr1799Ser) c.3095A>C (p.Tyr1032Ser) c.3155A>C (p.Tyr1052Ser) c.3326A>C (p.Tyr1109Ser) c.5381A>C (p.Tyr1794Ser) c.5441A>C (p.Tyr1814Ser) c.5336A>C (p.Tyr1779Ser) | |
| 2 | g.26461833T= | CA1239825453 | OTOF | c.5396A= (p.Tyr1799=) c.3095A= (p.Tyr1032=) c.3155A= (p.Tyr1052=) c.3326A= (p.Tyr1109=) c.5381A= (p.Tyr1794=) c.5441A= (p.Tyr1814=) c.5336A= (p.Tyr1779=) | |
| 2 | g.26461834A= | CA1239825454 | OTOF | c.5395T= (p.Tyr1799=) c.3094T= (p.Tyr1032=) c.3154T= (p.Tyr1052=) c.3325T= (p.Tyr1109=) c.5380T= (p.Tyr1794=) c.5440T= (p.Tyr1814=) c.5335T= (p.Tyr1779=) | |
| 2 | g.26461834A>C | CA346131542 | OTOF | c.5395T>G (p.Tyr1799Asp) c.3094T>G (p.Tyr1032Asp) c.3154T>G (p.Tyr1052Asp) c.3325T>G (p.Tyr1109Asp) c.5380T>G (p.Tyr1794Asp) c.5440T>G (p.Tyr1814Asp) c.5335T>G (p.Tyr1779Asp) | |
| 2 | g.26461834A>G | CA1562836 | OTOF | c.5395T>C (p.Tyr1799His) c.3094T>C (p.Tyr1032His) c.3154T>C (p.Tyr1052His) c.3325T>C (p.Tyr1109His) c.5380T>C (p.Tyr1794His) c.5440T>C (p.Tyr1814His) c.5335T>C (p.Tyr1779His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26461834A>T | CA346131543 | OTOF | c.5395T>A (p.Tyr1799Asn) c.3094T>A (p.Tyr1032Asn) c.3154T>A (p.Tyr1052Asn) c.3325T>A (p.Tyr1109Asn) c.5380T>A (p.Tyr1794Asn) c.5440T>A (p.Tyr1814Asn) c.5335T>A (p.Tyr1779Asn) | |
| 2 | g.26461835G>A | CA142932 | OTOF | c.5394C>T (p.Asp1798=) c.3093C>T (p.Asp1031=) c.3153C>T (p.Asp1051=) c.3324C>T (p.Asp1108=) c.5379C>T (p.Asp1793=) c.5439C>T (p.Asp1813=) c.5334C>T (p.Asp1778=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461835G>C | CA346131545 | OTOF | c.5394C>G (p.Asp1798Glu) c.3093C>G (p.Asp1031Glu) c.3153C>G (p.Asp1051Glu) c.3324C>G (p.Asp1108Glu) c.5379C>G (p.Asp1793Glu) c.5439C>G (p.Asp1813Glu) c.5334C>G (p.Asp1778Glu) | |
| 2 | g.26461835G= | CA1239825455 | OTOF | c.5394C= (p.Asp1798=) c.3093C= (p.Asp1031=) c.3153C= (p.Asp1051=) c.3324C= (p.Asp1108=) c.5379C= (p.Asp1793=) c.5439C= (p.Asp1813=) c.5334C= (p.Asp1778=) | |
| 2 | g.26461835G>T | CA346131544 | OTOF | c.5394C>A (p.Asp1798Glu) c.3093C>A (p.Asp1031Glu) c.3153C>A (p.Asp1051Glu) c.3324C>A (p.Asp1108Glu) c.5379C>A (p.Asp1793Glu) c.5439C>A (p.Asp1813Glu) c.5334C>A (p.Asp1778Glu) | |
| 2 | g.26461836T>A | CA346131546 | OTOF | c.5393A>T (p.Asp1798Val) c.3092A>T (p.Asp1031Val) c.3152A>T (p.Asp1051Val) c.3323A>T (p.Asp1108Val) c.5378A>T (p.Asp1793Val) c.5438A>T (p.Asp1813Val) c.5333A>T (p.Asp1778Val) | |
| 2 | g.26461836T>C | CA346131547 | OTOF | c.5393A>G (p.Asp1798Gly) c.3092A>G (p.Asp1031Gly) c.3152A>G (p.Asp1051Gly) c.3323A>G (p.Asp1108Gly) c.5378A>G (p.Asp1793Gly) c.5438A>G (p.Asp1813Gly) c.5333A>G (p.Asp1778Gly) | |
| 2 | g.26461836T>G | CA346131548 | OTOF | c.5393A>C (p.Asp1798Ala) c.3092A>C (p.Asp1031Ala) c.3152A>C (p.Asp1051Ala) c.3323A>C (p.Asp1108Ala) c.5378A>C (p.Asp1793Ala) c.5438A>C (p.Asp1813Ala) c.5333A>C (p.Asp1778Ala) | |
| 2 | g.26461837C>A | CA346131549 | OTOF | c.5392G>T (p.Asp1798Tyr) c.3091G>T (p.Asp1031Tyr) c.3151G>T (p.Asp1051Tyr) c.3322G>T (p.Asp1108Tyr) c.5377G>T (p.Asp1793Tyr) c.5437G>T (p.Asp1813Tyr) c.5332G>T (p.Asp1778Tyr) | |
| 2 | g.26461837C= | CA1239825456 | OTOF | c.5392G= (p.Asp1798=) c.3091G= (p.Asp1031=) c.3151G= (p.Asp1051=) c.3322G= (p.Asp1108=) c.5377G= (p.Asp1793=) c.5437G= (p.Asp1813=) c.5332G= (p.Asp1778=) | |
| 2 | g.26461837C>G | CA346131550 | OTOF | c.5392G>C (p.Asp1798His) c.3091G>C (p.Asp1031His) c.3151G>C (p.Asp1051His) c.3322G>C (p.Asp1108His) c.5377G>C (p.Asp1793His) c.5437G>C (p.Asp1813His) c.5332G>C (p.Asp1778His) | |
| 2 | g.26461837C>T | CA44409187 | OTOF | c.5392G>A (p.Asp1798Asn) c.3091G>A (p.Asp1031Asn) c.3151G>A (p.Asp1051Asn) c.3322G>A (p.Asp1108Asn) c.5377G>A (p.Asp1793Asn) c.5437G>A (p.Asp1813Asn) c.5332G>A (p.Asp1778Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26461838G>A | CA142930 | OTOF | c.5391C>T (p.Phe1797=) c.3090C>T (p.Phe1030=) c.3150C>T (p.Phe1050=) c.3321C>T (p.Phe1107=) c.5376C>T (p.Phe1792=) c.5436C>T (p.Phe1812=) c.5331C>T (p.Phe1777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26461838G>C | CA346131551 | OTOF | c.5391C>G (p.Phe1797Leu) c.3090C>G (p.Phe1030Leu) c.3150C>G (p.Phe1050Leu) c.3321C>G (p.Phe1107Leu) c.5376C>G (p.Phe1792Leu) c.5436C>G (p.Phe1812Leu) c.5331C>G (p.Phe1777Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461838G= | CA1239825457 | OTOF | c.5391C= (p.Phe1797=) c.3090C= (p.Phe1030=) c.3150C= (p.Phe1050=) c.3321C= (p.Phe1107=) c.5376C= (p.Phe1792=) c.5436C= (p.Phe1812=) c.5331C= (p.Phe1777=) | |
| 2 | g.26461838G>T | CA346131552 | OTOF | c.5391C>A (p.Phe1797Leu) c.3090C>A (p.Phe1030Leu) c.3150C>A (p.Phe1050Leu) c.3321C>A (p.Phe1107Leu) c.5376C>A (p.Phe1792Leu) c.5436C>A (p.Phe1812Leu) c.5331C>A (p.Phe1777Leu) | gnomAD v4 |
| 2 | g.26461839A= | CA1239825458 | OTOF | c.5390T= (p.Phe1797=) c.3089T= (p.Phe1030=) c.3149T= (p.Phe1050=) c.3320T= (p.Phe1107=) c.5375T= (p.Phe1792=) c.5435T= (p.Phe1812=) c.5330T= (p.Phe1777=) | |
| 2 | g.26461839A>C | CA346131553 | OTOF | c.5390T>G (p.Phe1797Cys) c.3089T>G (p.Phe1030Cys) c.3149T>G (p.Phe1050Cys) c.3320T>G (p.Phe1107Cys) c.5375T>G (p.Phe1792Cys) c.5435T>G (p.Phe1812Cys) c.5330T>G (p.Phe1777Cys) | dbSNP gnomAD v4 |
| 2 | g.26461839A>G | CA346131554 | OTOF | c.5390T>C (p.Phe1797Ser) c.3089T>C (p.Phe1030Ser) c.3149T>C (p.Phe1050Ser) c.3320T>C (p.Phe1107Ser) c.5375T>C (p.Phe1792Ser) c.5435T>C (p.Phe1812Ser) c.5330T>C (p.Phe1777Ser) | |
| 2 | g.26461839A>T | CA346131555 | OTOF | c.5390T>A (p.Phe1797Tyr) c.3089T>A (p.Phe1030Tyr) c.3149T>A (p.Phe1050Tyr) c.3320T>A (p.Phe1107Tyr) c.5375T>A (p.Phe1792Tyr) c.5435T>A (p.Phe1812Tyr) c.5330T>A (p.Phe1777Tyr) | |
| 2 | g.26461840A>C | CA346131557 | OTOF | c.5389T>G (p.Phe1797Val) c.3088T>G (p.Phe1030Val) c.3148T>G (p.Phe1050Val) c.3319T>G (p.Phe1107Val) c.5374T>G (p.Phe1792Val) c.5434T>G (p.Phe1812Val) c.5329T>G (p.Phe1777Val) | |
| 2 | g.26461840A>G | CA346131558 | OTOF | c.5389T>C (p.Phe1797Leu) c.3088T>C (p.Phe1030Leu) c.3148T>C (p.Phe1050Leu) c.3319T>C (p.Phe1107Leu) c.5374T>C (p.Phe1792Leu) c.5434T>C (p.Phe1812Leu) c.5329T>C (p.Phe1777Leu) | |
| 2 | g.26461840A>T | CA346131556 | OTOF | c.5389T>A (p.Phe1797Ile) c.3088T>A (p.Phe1030Ile) c.3148T>A (p.Phe1050Ile) c.3319T>A (p.Phe1107Ile) c.5374T>A (p.Phe1792Ile) c.5434T>A (p.Phe1812Ile) c.5329T>A (p.Phe1777Ile) | |
| 2 | g.26461841G>A | CA1562837 | OTOF | c.5388C>T (p.Pro1796=) c.3087C>T (p.Pro1029=) c.3147C>T (p.Pro1049=) c.3318C>T (p.Pro1106=) c.5373C>T (p.Pro1791=) c.5433C>T (p.Pro1811=) c.5328C>T (p.Pro1776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26461841G>C | CA425359359 | OTOF | c.5388C>G (p.Pro1796=) c.3087C>G (p.Pro1029=) c.3147C>G (p.Pro1049=) c.3318C>G (p.Pro1106=) c.5373C>G (p.Pro1791=) c.5433C>G (p.Pro1811=) c.5328C>G (p.Pro1776=) | |
| 2 | g.26461841G= | CA1239825459 | OTOF | c.5388C= (p.Pro1796=) c.3087C= (p.Pro1029=) c.3147C= (p.Pro1049=) c.3318C= (p.Pro1106=) c.5373C= (p.Pro1791=) c.5433C= (p.Pro1811=) c.5328C= (p.Pro1776=) | |
| 2 | g.26461841G>T | CA425359360 | OTOF | c.5388C>A (p.Pro1796=) c.3087C>A (p.Pro1029=) c.3147C>A (p.Pro1049=) c.3318C>A (p.Pro1106=) c.5373C>A (p.Pro1791=) c.5433C>A (p.Pro1811=) c.5328C>A (p.Pro1776=) | |
| 2 | g.26461842G>A | CA346131559 | OTOF | c.5387C>T (p.Pro1796Leu) c.3086C>T (p.Pro1029Leu) c.3146C>T (p.Pro1049Leu) c.3317C>T (p.Pro1106Leu) c.5372C>T (p.Pro1791Leu) c.5432C>T (p.Pro1811Leu) c.5327C>T (p.Pro1776Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26461842G>C | CA346131560 | OTOF | c.5387C>G (p.Pro1796Arg) c.3086C>G (p.Pro1029Arg) c.3146C>G (p.Pro1049Arg) c.3317C>G (p.Pro1106Arg) c.5372C>G (p.Pro1791Arg) c.5432C>G (p.Pro1811Arg) c.5327C>G (p.Pro1776Arg) | |
| 2 | g.26461842G>T | CA346131561 | OTOF | c.5387C>A (p.Pro1796His) c.3086C>A (p.Pro1029His) c.3146C>A (p.Pro1049His) c.3317C>A (p.Pro1106His) c.5372C>A (p.Pro1791His) c.5432C>A (p.Pro1811His) c.5327C>A (p.Pro1776His) | |
| 2 | g.26461843G>A | CA44409193 | OTOF | c.5386C>T (p.Pro1796Ser) c.3085C>T (p.Pro1029Ser) c.3145C>T (p.Pro1049Ser) c.3316C>T (p.Pro1106Ser) c.5371C>T (p.Pro1791Ser) c.5431C>T (p.Pro1811Ser) c.5326C>T (p.Pro1776Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461843G>C | CA346131562 | OTOF | c.5386C>G (p.Pro1796Ala) c.3085C>G (p.Pro1029Ala) c.3145C>G (p.Pro1049Ala) c.3316C>G (p.Pro1106Ala) c.5371C>G (p.Pro1791Ala) c.5431C>G (p.Pro1811Ala) c.5326C>G (p.Pro1776Ala) | |
| 2 | g.26461843G= | CA1239825460 | OTOF | c.5386C= (p.Pro1796=) c.3085C= (p.Pro1029=) c.3145C= (p.Pro1049=) c.3316C= (p.Pro1106=) c.5371C= (p.Pro1791=) c.5431C= (p.Pro1811=) c.5326C= (p.Pro1776=) | |
| 2 | g.26461843G>T | CA346131563 | OTOF | c.5386C>A (p.Pro1796Thr) c.3085C>A (p.Pro1029Thr) c.3145C>A (p.Pro1049Thr) c.3316C>A (p.Pro1106Thr) c.5371C>A (p.Pro1791Thr) c.5431C>A (p.Pro1811Thr) c.5326C>A (p.Pro1776Thr) | |
| 2 | g.26461844G>A | CA425359361 | OTOF | c.5385C>T (p.Phe1795=) c.3084C>T (p.Phe1028=) c.3144C>T (p.Phe1048=) c.3315C>T (p.Phe1105=) c.5370C>T (p.Phe1790=) c.5430C>T (p.Phe1810=) c.5325C>T (p.Phe1775=) | dbSNP |
| 2 | g.26461844G>C | CA346131564 | OTOF | c.5385C>G (p.Phe1795Leu) c.3084C>G (p.Phe1028Leu) c.3144C>G (p.Phe1048Leu) c.3315C>G (p.Phe1105Leu) c.5370C>G (p.Phe1790Leu) c.5430C>G (p.Phe1810Leu) c.5325C>G (p.Phe1775Leu) | |
| 2 | g.26461844G= | CA1239825461 | OTOF | c.5385C= (p.Phe1795=) c.3084C= (p.Phe1028=) c.3144C= (p.Phe1048=) c.3315C= (p.Phe1105=) c.5370C= (p.Phe1790=) c.5430C= (p.Phe1810=) c.5325C= (p.Phe1775=) | |
| 2 | g.26461844G>T | CA346131565 | OTOF | c.5385C>A (p.Phe1795Leu) c.3084C>A (p.Phe1028Leu) c.3144C>A (p.Phe1048Leu) c.3315C>A (p.Phe1105Leu) c.5370C>A (p.Phe1790Leu) c.5430C>A (p.Phe1810Leu) c.5325C>A (p.Phe1775Leu) | |
| 2 | g.26461845A= | CA1239825462 | OTOF | c.5384T= (p.Phe1795=) c.3083T= (p.Phe1028=) c.3143T= (p.Phe1048=) c.3314T= (p.Phe1105=) c.5369T= (p.Phe1790=) c.5429T= (p.Phe1810=) c.5324T= (p.Phe1775=) | |
| 2 | g.26461845A>C | CA345136 | OTOF | c.5384T>G (p.Phe1795Cys) c.3083T>G (p.Phe1028Cys) c.3143T>G (p.Phe1048Cys) c.3314T>G (p.Phe1105Cys) c.5369T>G (p.Phe1790Cys) c.5429T>G (p.Phe1810Cys) c.5324T>G (p.Phe1775Cys) | ClinVar dbSNP |
| 2 | g.26461845A>G | CA346131566 | OTOF | c.5384T>C (p.Phe1795Ser) c.3083T>C (p.Phe1028Ser) c.3143T>C (p.Phe1048Ser) c.3314T>C (p.Phe1105Ser) c.5369T>C (p.Phe1790Ser) c.5429T>C (p.Phe1810Ser) c.5324T>C (p.Phe1775Ser) | |
| 2 | g.26461845A>T | CA346131567 | OTOF | c.5384T>A (p.Phe1795Tyr) c.3083T>A (p.Phe1028Tyr) c.3143T>A (p.Phe1048Tyr) c.3314T>A (p.Phe1105Tyr) c.5369T>A (p.Phe1790Tyr) c.5429T>A (p.Phe1810Tyr) c.5324T>A (p.Phe1775Tyr) | |
| 2 | g.26461846dup | CA2658232655 | OTOF | c.5384dup (p.Phe1797LeufsTer?) c.3083dup (p.Phe1030LeufsTer?) c.3143dup (p.Phe1050LeufsTer?) c.3314dup (p.Phe1107LeufsTer?) c.5369dup (p.Phe1792LeufsTer?) c.5429dup (p.Phe1812LeufsTer?) c.5324dup (p.Phe1777LeufsTer?) | gnomAD v4 |
| 2 | g.26461846A>C | CA346131570 | OTOF | c.5383T>G (p.Phe1795Val) c.3082T>G (p.Phe1028Val) c.3142T>G (p.Phe1048Val) c.3313T>G (p.Phe1105Val) c.5368T>G (p.Phe1790Val) c.5428T>G (p.Phe1810Val) c.5323T>G (p.Phe1775Val) | |
| 2 | g.26461846A>G | CA346131569 | OTOF | c.5383T>C (p.Phe1795Leu) c.3082T>C (p.Phe1028Leu) c.3142T>C (p.Phe1048Leu) c.3313T>C (p.Phe1105Leu) c.5368T>C (p.Phe1790Leu) c.5428T>C (p.Phe1810Leu) c.5323T>C (p.Phe1775Leu) | |
| 2 | g.26461846A>T | CA346131568 | OTOF | c.5383T>A (p.Phe1795Ile) c.3082T>A (p.Phe1028Ile) c.3142T>A (p.Phe1048Ile) c.3313T>A (p.Phe1105Ile) c.5368T>A (p.Phe1790Ile) c.5428T>A (p.Phe1810Ile) c.5323T>A (p.Phe1775Ile) | |
| 2 | g.26461847C>A | CA425359362 | OTOF | c.5382G>T (p.Leu1794=) c.3081G>T (p.Leu1027=) c.3141G>T (p.Leu1047=) c.3312G>T (p.Leu1104=) c.5367G>T (p.Leu1789=) c.5427G>T (p.Leu1809=) c.5322G>T (p.Leu1774=) | |
| 2 | g.26461847C>G | CA425359363 | OTOF | c.5382G>C (p.Leu1794=) c.3081G>C (p.Leu1027=) c.3141G>C (p.Leu1047=) c.3312G>C (p.Leu1104=) c.5367G>C (p.Leu1789=) c.5427G>C (p.Leu1809=) c.5322G>C (p.Leu1774=) | |
| 2 | g.26461847C>T | CA425359364 | OTOF | c.5382G>A (p.Leu1794=) c.3081G>A (p.Leu1027=) c.3141G>A (p.Leu1047=) c.3312G>A (p.Leu1104=) c.5367G>A (p.Leu1789=) c.5427G>A (p.Leu1809=) c.5322G>A (p.Leu1774=) | |
| 2 | g.26461848A>C | CA346131571 | OTOF | c.5381T>G (p.Leu1794Arg) c.3080T>G (p.Leu1027Arg) c.3140T>G (p.Leu1047Arg) c.3311T>G (p.Leu1104Arg) c.5366T>G (p.Leu1789Arg) c.5426T>G (p.Leu1809Arg) c.5321T>G (p.Leu1774Arg) | |
| 2 | g.26461848A>G | CA346131572 | OTOF | c.5381T>C (p.Leu1794Pro) c.3080T>C (p.Leu1027Pro) c.3140T>C (p.Leu1047Pro) c.3311T>C (p.Leu1104Pro) c.5366T>C (p.Leu1789Pro) c.5426T>C (p.Leu1809Pro) c.5321T>C (p.Leu1774Pro) | |
| 2 | g.26461848A>T | CA346131573 | OTOF | c.5381T>A (p.Leu1794Gln) c.3080T>A (p.Leu1027Gln) c.3140T>A (p.Leu1047Gln) c.3311T>A (p.Leu1104Gln) c.5366T>A (p.Leu1789Gln) c.5426T>A (p.Leu1809Gln) c.5321T>A (p.Leu1774Gln) | |
| 2 | g.26461848_26461849insT | CA2749240304 | OTOF | c.5380_5381insA (p.Leu1794HisfsTer?) c.3079_3080insA (p.Leu1027HisfsTer?) c.3139_3140insA (p.Leu1047HisfsTer?) c.3310_3311insA (p.Leu1104HisfsTer?) c.5365_5366insA (p.Leu1789HisfsTer?) c.5425_5426insA (p.Leu1809HisfsTer?) c.5320_5321insA (p.Leu1774HisfsTer?) | |
| 2 | g.26461849G>A | CA425359365 | OTOF | c.5380C>T (p.Leu1794=) c.3079C>T (p.Leu1027=) c.3139C>T (p.Leu1047=) c.3310C>T (p.Leu1104=) c.5365C>T (p.Leu1789=) c.5425C>T (p.Leu1809=) c.5320C>T (p.Leu1774=) | |
| 2 | g.26461849G>C | CA346131574 | OTOF | c.5380C>G (p.Leu1794Val) c.3079C>G (p.Leu1027Val) c.3139C>G (p.Leu1047Val) c.3310C>G (p.Leu1104Val) c.5365C>G (p.Leu1789Val) c.5425C>G (p.Leu1809Val) c.5320C>G (p.Leu1774Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461849G= | CA1239825463 | OTOF | c.5380C= (p.Leu1794=) c.3079C= (p.Leu1027=) c.3139C= (p.Leu1047=) c.3310C= (p.Leu1104=) c.5365C= (p.Leu1789=) c.5425C= (p.Leu1809=) c.5320C= (p.Leu1774=) | |
| 2 | g.26461849G>T | CA346131575 | OTOF | c.5380C>A (p.Leu1794Met) c.3079C>A (p.Leu1027Met) c.3139C>A (p.Leu1047Met) c.3310C>A (p.Leu1104Met) c.5365C>A (p.Leu1789Met) c.5425C>A (p.Leu1809Met) c.5320C>A (p.Leu1774Met) | |
| 2 | g.26461850del | CA2658232656 | OTOF | c.5380del (p.Leu1794CysfsTer?) c.3079del (p.Leu1027CysfsTer?) c.3139del (p.Leu1047CysfsTer?) c.3310del (p.Leu1104CysfsTer?) c.5365del (p.Leu1789CysfsTer?) c.5425del (p.Leu1809CysfsTer?) c.5320del (p.Leu1774CysfsTer?) | gnomAD v4 |
| 2 | g.26461850G>A | CA425359366 | OTOF | c.5379C>T (p.Tyr1793=) c.3078C>T (p.Tyr1026=) c.3138C>T (p.Tyr1046=) c.3309C>T (p.Tyr1103=) c.5364C>T (p.Tyr1788=) c.5424C>T (p.Tyr1808=) c.5319C>T (p.Tyr1773=) | ClinVar |
| 2 | g.26461850G>C | CA346131576 | OTOF | c.5379C>G (p.Tyr1793Ter) c.3078C>G (p.Tyr1026Ter) c.3138C>G (p.Tyr1046Ter) c.3309C>G (p.Tyr1103Ter) c.5364C>G (p.Tyr1788Ter) c.5424C>G (p.Tyr1808Ter) c.5319C>G (p.Tyr1773Ter) | ClinVar dbSNP |
| 2 | g.26461850G= | CA1239825464 | OTOF | c.5379C= (p.Tyr1793=) c.3078C= (p.Tyr1026=) c.3138C= (p.Tyr1046=) c.3309C= (p.Tyr1103=) c.5364C= (p.Tyr1788=) c.5424C= (p.Tyr1808=) c.5319C= (p.Tyr1773=) | |
| 2 | g.26461850G>T | CA346131577 | OTOF | c.5379C>A (p.Tyr1793Ter) c.3078C>A (p.Tyr1026Ter) c.3138C>A (p.Tyr1046Ter) c.3309C>A (p.Tyr1103Ter) c.5364C>A (p.Tyr1788Ter) c.5424C>A (p.Tyr1808Ter) c.5319C>A (p.Tyr1773Ter) | |
| 2 | g.26461851T>A | CA346131578 | OTOF | c.5378A>T (p.Tyr1793Phe) c.3077A>T (p.Tyr1026Phe) c.3137A>T (p.Tyr1046Phe) c.3308A>T (p.Tyr1103Phe) c.5363A>T (p.Tyr1788Phe) c.5423A>T (p.Tyr1808Phe) c.5318A>T (p.Tyr1773Phe) | |
| 2 | g.26461851T>C | CA346131579 | OTOF | c.5378A>G (p.Tyr1793Cys) c.3077A>G (p.Tyr1026Cys) c.3137A>G (p.Tyr1046Cys) c.3308A>G (p.Tyr1103Cys) c.5363A>G (p.Tyr1788Cys) c.5423A>G (p.Tyr1808Cys) c.5318A>G (p.Tyr1773Cys) | |
| 2 | g.26461851T>G | CA346131580 | OTOF | c.5378A>C (p.Tyr1793Ser) c.3077A>C (p.Tyr1026Ser) c.3137A>C (p.Tyr1046Ser) c.3308A>C (p.Tyr1103Ser) c.5363A>C (p.Tyr1788Ser) c.5423A>C (p.Tyr1808Ser) c.5318A>C (p.Tyr1773Ser) | |
| 2 | g.26461852A>C | CA346131581 | OTOF | c.5377T>G (p.Tyr1793Asp) c.3076T>G (p.Tyr1026Asp) c.3136T>G (p.Tyr1046Asp) c.3307T>G (p.Tyr1103Asp) c.5362T>G (p.Tyr1788Asp) c.5422T>G (p.Tyr1808Asp) c.5317T>G (p.Tyr1773Asp) | |
| 2 | g.26461852A>G | CA346131582 | OTOF | c.5377T>C (p.Tyr1793His) c.3076T>C (p.Tyr1026His) c.3136T>C (p.Tyr1046His) c.3307T>C (p.Tyr1103His) c.5362T>C (p.Tyr1788His) c.5422T>C (p.Tyr1808His) c.5317T>C (p.Tyr1773His) | |
| 2 | g.26461852A>T | CA346131583 | OTOF | c.5377T>A (p.Tyr1793Asn) c.3076T>A (p.Tyr1026Asn) c.3136T>A (p.Tyr1046Asn) c.3307T>A (p.Tyr1103Asn) c.5362T>A (p.Tyr1788Asn) c.5422T>A (p.Tyr1808Asn) c.5317T>A (p.Tyr1773Asn) | |
| 2 | g.26461853G>A | CA425359367 | OTOF | c.5376C>T (p.Arg1792=) c.3075C>T (p.Arg1025=) c.3135C>T (p.Arg1045=) c.3306C>T (p.Arg1102=) c.5361C>T (p.Arg1787=) c.5421C>T (p.Arg1807=) c.5316C>T (p.Arg1772=) | |
| 2 | g.26461853G>C | CA425359368 | OTOF | c.5376C>G (p.Arg1792=) c.3075C>G (p.Arg1025=) c.3135C>G (p.Arg1045=) c.3306C>G (p.Arg1102=) c.5361C>G (p.Arg1787=) c.5421C>G (p.Arg1807=) c.5316C>G (p.Arg1772=) | gnomAD v4 |
| 2 | g.26461853G>T | CA425359369 | OTOF | c.5376C>A (p.Arg1792=) c.3075C>A (p.Arg1025=) c.3135C>A (p.Arg1045=) c.3306C>A (p.Arg1102=) c.5361C>A (p.Arg1787=) c.5421C>A (p.Arg1807=) c.5316C>A (p.Arg1772=) | |
| 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=) | |
| 2 | g.26461868G>C | CA425359379 | OTOF | c.5361C>G (p.Gly1787=) c.3060C>G (p.Gly1020=) c.3120C>G (p.Gly1040=) c.3291C>G (p.Gly1097=) c.5346C>G (p.Gly1782=) c.5406C>G (p.Gly1802=) c.5301C>G (p.Gly1767=) | |
| 2 | g.26461868G>T | CA425359380 | OTOF | c.5361C>A (p.Gly1787=) c.3060C>A (p.Gly1020=) c.3120C>A (p.Gly1040=) c.3291C>A (p.Gly1097=) c.5346C>A (p.Gly1782=) c.5406C>A (p.Gly1802=) c.5301C>A (p.Gly1767=) | |
| 2 | g.26461869C>A | CA346131630 | OTOF | c.5360G>T (p.Gly1787Val) c.3059G>T (p.Gly1020Val) c.3119G>T (p.Gly1040Val) c.3290G>T (p.Gly1097Val) c.5345G>T (p.Gly1782Val) c.5405G>T (p.Gly1802Val) c.5300G>T (p.Gly1767Val) | |
| 2 | g.26461869C>G | CA346131633 | OTOF | c.5360G>C (p.Gly1787Ala) c.3059G>C (p.Gly1020Ala) c.3119G>C (p.Gly1040Ala) c.3290G>C (p.Gly1097Ala) c.5345G>C (p.Gly1782Ala) c.5405G>C (p.Gly1802Ala) c.5300G>C (p.Gly1767Ala) | |
| 2 | g.26461869C>T | CA346131632 | OTOF | c.5360G>A (p.Gly1787Asp) c.3059G>A (p.Gly1020Asp) c.3119G>A (p.Gly1040Asp) c.3290G>A (p.Gly1097Asp) c.5345G>A (p.Gly1782Asp) c.5405G>A (p.Gly1802Asp) c.5300G>A (p.Gly1767Asp) | ClinVar dbSNP |
| 2 | g.26461870C>A | CA346131635 | OTOF | c.5359G>T (p.Gly1787Cys) c.3058G>T (p.Gly1020Cys) c.3118G>T (p.Gly1040Cys) c.3289G>T (p.Gly1097Cys) c.5344G>T (p.Gly1782Cys) c.5404G>T (p.Gly1802Cys) c.5299G>T (p.Gly1767Cys) | dbSNP gnomAD v4 |
| 2 | g.26461870C= | CA1239825471 | OTOF | c.5359G= (p.Gly1787=) c.3058G= (p.Gly1020=) c.3118G= (p.Gly1040=) c.3289G= (p.Gly1097=) c.5344G= (p.Gly1782=) c.5404G= (p.Gly1802=) c.5299G= (p.Gly1767=) | |
| 2 | g.26461870C>G | CA346131636 | OTOF | c.5359G>C (p.Gly1787Arg) c.3058G>C (p.Gly1020Arg) c.3118G>C (p.Gly1040Arg) c.3289G>C (p.Gly1097Arg) c.5344G>C (p.Gly1782Arg) c.5404G>C (p.Gly1802Arg) c.5299G>C (p.Gly1767Arg) | |
| 2 | g.26461870C>T | CA346131637 | OTOF | c.5359G>A (p.Gly1787Ser) c.3058G>A (p.Gly1020Ser) c.3118G>A (p.Gly1040Ser) c.3289G>A (p.Gly1097Ser) c.5344G>A (p.Gly1782Ser) c.5404G>A (p.Gly1802Ser) c.5299G>A (p.Gly1767Ser) | |
| 2 | g.26461871C>A | CA346131639 | OTOF | c.5358G>T (p.Glu1786Asp) c.3057G>T (p.Glu1019Asp) c.3117G>T (p.Glu1039Asp) c.3288G>T (p.Glu1096Asp) c.5343G>T (p.Glu1781Asp) c.5403G>T (p.Glu1801Asp) c.5298G>T (p.Glu1766Asp) | |
| 2 | g.26461871C= | CA1239825472 | OTOF | c.5358G= (p.Glu1786=) c.3057G= (p.Glu1019=) c.3117G= (p.Glu1039=) c.3288G= (p.Glu1096=) c.5343G= (p.Glu1781=) c.5403G= (p.Glu1801=) c.5298G= (p.Glu1766=) | |
| 2 | g.26461871C>G | CA346131641 | OTOF | c.5358G>C (p.Glu1786Asp) c.3057G>C (p.Glu1019Asp) c.3117G>C (p.Glu1039Asp) c.3288G>C (p.Glu1096Asp) c.5343G>C (p.Glu1781Asp) c.5403G>C (p.Glu1801Asp) c.5298G>C (p.Glu1766Asp) | |
| 2 | g.26461871C>T | CA425359383 | OTOF | c.5358G>A (p.Glu1786=) c.3057G>A (p.Glu1019=) c.3117G>A (p.Glu1039=) c.3288G>A (p.Glu1096=) c.5343G>A (p.Glu1781=) c.5403G>A (p.Glu1801=) c.5298G>A (p.Glu1766=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461872T>A | CA346131642 | OTOF | c.5357A>T (p.Glu1786Val) c.3056A>T (p.Glu1019Val) c.3116A>T (p.Glu1039Val) c.3287A>T (p.Glu1096Val) c.5342A>T (p.Glu1781Val) c.5402A>T (p.Glu1801Val) c.5297A>T (p.Glu1766Val) | |
| 2 | g.26461872T>C | CA346131644 | OTOF | c.5357A>G (p.Glu1786Gly) c.3056A>G (p.Glu1019Gly) c.3116A>G (p.Glu1039Gly) c.3287A>G (p.Glu1096Gly) c.5342A>G (p.Glu1781Gly) c.5402A>G (p.Glu1801Gly) c.5297A>G (p.Glu1766Gly) | |
| 2 | g.26461872T>G | CA346131645 | OTOF | c.5357A>C (p.Glu1786Ala) c.3056A>C (p.Glu1019Ala) c.3116A>C (p.Glu1039Ala) c.3287A>C (p.Glu1096Ala) c.5342A>C (p.Glu1781Ala) c.5402A>C (p.Glu1801Ala) c.5297A>C (p.Glu1766Ala) | |
| 2 | g.26461873C>A | CA346131646 | OTOF | c.5356G>T (p.Glu1786Ter) c.3055G>T (p.Glu1019Ter) c.3115G>T (p.Glu1039Ter) c.3286G>T (p.Glu1096Ter) c.5341G>T (p.Glu1781Ter) c.5401G>T (p.Glu1801Ter) c.5296G>T (p.Glu1766Ter) | |
| 2 | g.26461873C= | CA1239825473 | OTOF | c.5356G= (p.Glu1786=) c.3055G= (p.Glu1019=) c.3115G= (p.Glu1039=) c.3286G= (p.Glu1096=) c.5341G= (p.Glu1781=) c.5401G= (p.Glu1801=) c.5296G= (p.Glu1766=) | |
| 2 | g.26461873C>G | CA346131647 | OTOF | c.5356G>C (p.Glu1786Gln) c.3055G>C (p.Glu1019Gln) c.3115G>C (p.Glu1039Gln) c.3286G>C (p.Glu1096Gln) c.5341G>C (p.Glu1781Gln) c.5401G>C (p.Glu1801Gln) c.5296G>C (p.Glu1766Gln) | |
| 2 | g.26461873C>T | CA1562839 | OTOF | c.5356G>A (p.Glu1786Lys) c.3055G>A (p.Glu1019Lys) c.3115G>A (p.Glu1039Lys) c.3286G>A (p.Glu1096Lys) c.5341G>A (p.Glu1781Lys) c.5401G>A (p.Glu1801Lys) c.5296G>A (p.Glu1766Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461874G>A | CA1562841 | OTOF | c.5355C>T (p.Gly1785=) c.3054C>T (p.Gly1018=) c.3114C>T (p.Gly1038=) c.3285C>T (p.Gly1095=) c.5340C>T (p.Gly1780=) c.5400C>T (p.Gly1800=) c.5295C>T (p.Gly1765=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461874G>C | CA425359386 | OTOF | c.5355C>G (p.Gly1785=) c.3054C>G (p.Gly1018=) c.3114C>G (p.Gly1038=) c.3285C>G (p.Gly1095=) c.5340C>G (p.Gly1780=) c.5400C>G (p.Gly1800=) c.5295C>G (p.Gly1765=) | dbSNP |
| 2 | g.26461874G= | CA1239825474 | OTOF | c.5355C= (p.Gly1785=) c.3054C= (p.Gly1018=) c.3114C= (p.Gly1038=) c.3285C= (p.Gly1095=) c.5340C= (p.Gly1780=) c.5400C= (p.Gly1800=) c.5295C= (p.Gly1765=) | |
| 2 | g.26461874G>T | CA1562840 | OTOF | c.5355C>A (p.Gly1785=) c.3054C>A (p.Gly1018=) c.3114C>A (p.Gly1038=) c.3285C>A (p.Gly1095=) c.5340C>A (p.Gly1780=) c.5400C>A (p.Gly1800=) c.5295C>A (p.Gly1765=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26461875C>A | CA346131651 | OTOF | c.5354G>T (p.Gly1785Val) c.3053G>T (p.Gly1018Val) c.3113G>T (p.Gly1038Val) c.3284G>T (p.Gly1095Val) c.5339G>T (p.Gly1780Val) c.5399G>T (p.Gly1800Val) c.5294G>T (p.Gly1765Val) | |
| 2 | g.26461875C>G | CA346131652 | OTOF | c.5354G>C (p.Gly1785Ala) c.3053G>C (p.Gly1018Ala) c.3113G>C (p.Gly1038Ala) c.3284G>C (p.Gly1095Ala) c.5339G>C (p.Gly1780Ala) c.5399G>C (p.Gly1800Ala) c.5294G>C (p.Gly1765Ala) | |
| 2 | g.26461875C>T | CA346131653 | OTOF | c.5354G>A (p.Gly1785Asp) c.3053G>A (p.Gly1018Asp) c.3113G>A (p.Gly1038Asp) c.3284G>A (p.Gly1095Asp) c.5339G>A (p.Gly1780Asp) c.5399G>A (p.Gly1800Asp) c.5294G>A (p.Gly1765Asp) | |
| 2 | g.26461876C>A | CA346131655 | OTOF | c.5353G>T (p.Gly1785Cys) c.3052G>T (p.Gly1018Cys) c.3112G>T (p.Gly1038Cys) c.3283G>T (p.Gly1095Cys) c.5338G>T (p.Gly1780Cys) c.5398G>T (p.Gly1800Cys) c.5293G>T (p.Gly1765Cys) | |
| 2 | g.26461876C>G | CA346131657 | OTOF | c.5353G>C (p.Gly1785Arg) c.3052G>C (p.Gly1018Arg) c.3112G>C (p.Gly1038Arg) c.3283G>C (p.Gly1095Arg) c.5338G>C (p.Gly1780Arg) c.5398G>C (p.Gly1800Arg) c.5293G>C (p.Gly1765Arg) | |
| 2 | g.26461876C>T | CA346131658 | OTOF | c.5353G>A (p.Gly1785Ser) c.3052G>A (p.Gly1018Ser) c.3112G>A (p.Gly1038Ser) c.3283G>A (p.Gly1095Ser) c.5338G>A (p.Gly1780Ser) c.5398G>A (p.Gly1800Ser) c.5293G>A (p.Gly1765Ser) | |
| 2 | g.26461877A>C | CA425359393 | OTOF | c.5352T>G (p.Thr1784=) c.3051T>G (p.Thr1017=) c.3111T>G (p.Thr1037=) c.3282T>G (p.Thr1094=) c.5337T>G (p.Thr1779=) c.5397T>G (p.Thr1799=) c.5292T>G (p.Thr1764=) | |
| 2 | g.26461877A>G | CA425359390 | OTOF | c.5352T>C (p.Thr1784=) c.3051T>C (p.Thr1017=) c.3111T>C (p.Thr1037=) c.3282T>C (p.Thr1094=) c.5337T>C (p.Thr1779=) c.5397T>C (p.Thr1799=) c.5292T>C (p.Thr1764=) | |
| 2 | g.26461877A>T | CA425359388 | OTOF | c.5352T>A (p.Thr1784=) c.3051T>A (p.Thr1017=) c.3111T>A (p.Thr1037=) c.3282T>A (p.Thr1094=) c.5337T>A (p.Thr1779=) c.5397T>A (p.Thr1799=) c.5292T>A (p.Thr1764=) | |
| 2 | g.26461878G>A | CA1562842 | OTOF | c.5351C>T (p.Thr1784Ile) c.3050C>T (p.Thr1017Ile) c.3110C>T (p.Thr1037Ile) c.3281C>T (p.Thr1094Ile) c.5336C>T (p.Thr1779Ile) c.5396C>T (p.Thr1799Ile) c.5291C>T (p.Thr1764Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461878G>C | CA346131660 | OTOF | c.5351C>G (p.Thr1784Ser) c.3050C>G (p.Thr1017Ser) c.3110C>G (p.Thr1037Ser) c.3281C>G (p.Thr1094Ser) c.5336C>G (p.Thr1779Ser) c.5396C>G (p.Thr1799Ser) c.5291C>G (p.Thr1764Ser) | |
| 2 | g.26461878G= | CA1239825475 | OTOF | c.5351C= (p.Thr1784=) c.3050C= (p.Thr1017=) c.3110C= (p.Thr1037=) c.3281C= (p.Thr1094=) c.5336C= (p.Thr1779=) c.5396C= (p.Thr1799=) c.5291C= (p.Thr1764=) | |
| 2 | g.26461878G>T | CA346131661 | OTOF | c.5351C>A (p.Thr1784Asn) c.3050C>A (p.Thr1017Asn) c.3110C>A (p.Thr1037Asn) c.3281C>A (p.Thr1094Asn) c.5336C>A (p.Thr1779Asn) c.5396C>A (p.Thr1799Asn) c.5291C>A (p.Thr1764Asn) | |
| 2 | g.26461879T>A | CA346131665 | OTOF | c.5350A>T (p.Thr1784Ser) c.3049A>T (p.Thr1017Ser) c.3109A>T (p.Thr1037Ser) c.3280A>T (p.Thr1094Ser) c.5335A>T (p.Thr1779Ser) c.5395A>T (p.Thr1799Ser) c.5290A>T (p.Thr1764Ser) | |
| 2 | g.26461879T>C | CA346131666 | OTOF | c.5350A>G (p.Thr1784Ala) c.3049A>G (p.Thr1017Ala) c.3109A>G (p.Thr1037Ala) c.3280A>G (p.Thr1094Ala) c.5335A>G (p.Thr1779Ala) c.5395A>G (p.Thr1799Ala) c.5290A>G (p.Thr1764Ala) | |
| 2 | g.26461879T>G | CA346131663 | OTOF | c.5350A>C (p.Thr1784Pro) c.3049A>C (p.Thr1017Pro) c.3109A>C (p.Thr1037Pro) c.3280A>C (p.Thr1094Pro) c.5335A>C (p.Thr1779Pro) c.5395A>C (p.Thr1799Pro) c.5290A>C (p.Thr1764Pro) | |
| 2 | g.26461880G>A | CA1562843 | OTOF | c.5349C>T (p.Leu1783=) c.3048C>T (p.Leu1016=) c.3108C>T (p.Leu1036=) c.3279C>T (p.Leu1093=) c.5334C>T (p.Leu1778=) c.5394C>T (p.Leu1798=) c.5289C>T (p.Leu1763=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461880G>C | CA425359395 | OTOF | c.5349C>G (p.Leu1783=) c.3048C>G (p.Leu1016=) c.3108C>G (p.Leu1036=) c.3279C>G (p.Leu1093=) c.5334C>G (p.Leu1778=) c.5394C>G (p.Leu1798=) c.5289C>G (p.Leu1763=) | |
| 2 | g.26461880G= | CA1239825476 | OTOF | c.5349C= (p.Leu1783=) c.3048C= (p.Leu1016=) c.3108C= (p.Leu1036=) c.3279C= (p.Leu1093=) c.5334C= (p.Leu1778=) c.5394C= (p.Leu1798=) c.5289C= (p.Leu1763=) | |
| 2 | g.26461880G>T | CA425359394 | OTOF | c.5349C>A (p.Leu1783=) c.3048C>A (p.Leu1016=) c.3108C>A (p.Leu1036=) c.3279C>A (p.Leu1093=) c.5334C>A (p.Leu1778=) c.5394C>A (p.Leu1798=) c.5289C>A (p.Leu1763=) | |
| 2 | g.26461881A= | CA1239825477 | OTOF | c.5348T= (p.Leu1783=) c.3047T= (p.Leu1016=) c.3107T= (p.Leu1036=) c.3278T= (p.Leu1093=) c.5333T= (p.Leu1778=) c.5393T= (p.Leu1798=) c.5288T= (p.Leu1763=) | |
| 2 | g.26461881A>C | CA44409230 | OTOF | c.5348T>G (p.Leu1783Arg) c.3047T>G (p.Leu1016Arg) c.3107T>G (p.Leu1036Arg) c.3278T>G (p.Leu1093Arg) c.5333T>G (p.Leu1778Arg) c.5393T>G (p.Leu1798Arg) c.5288T>G (p.Leu1763Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461881A>G | CA346131668 | OTOF | c.5348T>C (p.Leu1783Pro) c.3047T>C (p.Leu1016Pro) c.3107T>C (p.Leu1036Pro) c.3278T>C (p.Leu1093Pro) c.5333T>C (p.Leu1778Pro) c.5393T>C (p.Leu1798Pro) c.5288T>C (p.Leu1763Pro) | |
| 2 | g.26461881A>T | CA346131670 | OTOF | c.5348T>A (p.Leu1783His) c.3047T>A (p.Leu1016His) c.3107T>A (p.Leu1036His) c.3278T>A (p.Leu1093His) c.5333T>A (p.Leu1778His) c.5393T>A (p.Leu1798His) c.5288T>A (p.Leu1763His) | |
| 2 | g.26461882G>A | CA346131675 | OTOF | c.5347C>T (p.Leu1783Phe) c.3046C>T (p.Leu1016Phe) c.3106C>T (p.Leu1036Phe) c.3277C>T (p.Leu1093Phe) c.5332C>T (p.Leu1778Phe) c.5392C>T (p.Leu1798Phe) c.5287C>T (p.Leu1763Phe) | |
| 2 | g.26461882G>C | CA346131673 | OTOF | c.5347C>G (p.Leu1783Val) c.3046C>G (p.Leu1016Val) c.3106C>G (p.Leu1036Val) c.3277C>G (p.Leu1093Val) c.5332C>G (p.Leu1778Val) c.5392C>G (p.Leu1798Val) c.5287C>G (p.Leu1763Val) | |
| 2 | g.26461882G>T | CA346131672 | OTOF | c.5347C>A (p.Leu1783Ile) c.3046C>A (p.Leu1016Ile) c.3106C>A (p.Leu1036Ile) c.3277C>A (p.Leu1093Ile) c.5332C>A (p.Leu1778Ile) c.5392C>A (p.Leu1798Ile) c.5287C>A (p.Leu1763Ile) | |
| 2 | g.26461883G>A | CA425359398 | OTOF | c.5346C>T (p.Ser1782=) c.3045C>T (p.Ser1015=) c.3105C>T (p.Ser1035=) c.3276C>T (p.Ser1092=) c.5331C>T (p.Ser1777=) c.5391C>T (p.Ser1797=) c.5286C>T (p.Ser1762=) | |
| 2 | g.26461883G>C | CA425359401 | OTOF | c.5346C>G (p.Ser1782=) c.3045C>G (p.Ser1015=) c.3105C>G (p.Ser1035=) c.3276C>G (p.Ser1092=) c.5331C>G (p.Ser1777=) c.5391C>G (p.Ser1797=) c.5286C>G (p.Ser1762=) | |
| 2 | g.26461883G>T | CA425359400 | OTOF | c.5346C>A (p.Ser1782=) c.3045C>A (p.Ser1015=) c.3105C>A (p.Ser1035=) c.3276C>A (p.Ser1092=) c.5331C>A (p.Ser1777=) c.5391C>A (p.Ser1797=) c.5286C>A (p.Ser1762=) | ClinVar |
| 2 | g.26461884G>A | CA346131676 | OTOF | c.5345C>T (p.Ser1782Phe) c.3044C>T (p.Ser1015Phe) c.3104C>T (p.Ser1035Phe) c.3275C>T (p.Ser1092Phe) c.5330C>T (p.Ser1777Phe) c.5390C>T (p.Ser1797Phe) c.5285C>T (p.Ser1762Phe) | |
| 2 | g.26461884G>C | CA346131677 | OTOF | c.5345C>G (p.Ser1782Cys) c.3044C>G (p.Ser1015Cys) c.3104C>G (p.Ser1035Cys) c.3275C>G (p.Ser1092Cys) c.5330C>G (p.Ser1777Cys) c.5390C>G (p.Ser1797Cys) c.5285C>G (p.Ser1762Cys) | COSMIC COSMIC COSMIC |
| 2 | g.26461884G>T | CA346131679 | OTOF | c.5345C>A (p.Ser1782Tyr) c.3044C>A (p.Ser1015Tyr) c.3104C>A (p.Ser1035Tyr) c.3275C>A (p.Ser1092Tyr) c.5330C>A (p.Ser1777Tyr) c.5390C>A (p.Ser1797Tyr) c.5285C>A (p.Ser1762Tyr) | |
| 2 | g.26461885A>C | CA346131681 | OTOF | c.5344T>G (p.Ser1782Ala) c.3043T>G (p.Ser1015Ala) c.3103T>G (p.Ser1035Ala) c.3274T>G (p.Ser1092Ala) c.5329T>G (p.Ser1777Ala) c.5389T>G (p.Ser1797Ala) c.5284T>G (p.Ser1762Ala) | |
| 2 | g.26461885A>G | CA346131682 | OTOF | c.5344T>C (p.Ser1782Pro) c.3043T>C (p.Ser1015Pro) c.3103T>C (p.Ser1035Pro) c.3274T>C (p.Ser1092Pro) c.5329T>C (p.Ser1777Pro) c.5389T>C (p.Ser1797Pro) c.5284T>C (p.Ser1762Pro) | |
| 2 | g.26461885A>T | CA346131683 | OTOF | c.5344T>A (p.Ser1782Thr) c.3043T>A (p.Ser1015Thr) c.3103T>A (p.Ser1035Thr) c.3274T>A (p.Ser1092Thr) c.5329T>A (p.Ser1777Thr) c.5389T>A (p.Ser1797Thr) c.5284T>A (p.Ser1762Thr) | |
| 2 | g.26461886G>A | CA1562844 | OTOF | c.5343C>T (p.His1781=) c.3042C>T (p.His1014=) c.3102C>T (p.His1034=) c.3273C>T (p.His1091=) c.5328C>T (p.His1776=) c.5388C>T (p.His1796=) c.5283C>T (p.His1761=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461886G>C | CA346131687 | OTOF | c.5343C>G (p.His1781Gln) c.3042C>G (p.His1014Gln) c.3102C>G (p.His1034Gln) c.3273C>G (p.His1091Gln) c.5328C>G (p.His1776Gln) c.5388C>G (p.His1796Gln) c.5283C>G (p.His1761Gln) | |
| 2 | g.26461886G= | CA1239825478 | OTOF | c.5343C= (p.His1781=) c.3042C= (p.His1014=) c.3102C= (p.His1034=) c.3273C= (p.His1091=) c.5328C= (p.His1776=) c.5388C= (p.His1796=) c.5283C= (p.His1761=) | |
| 2 | g.26461886G>T | CA1562845 | OTOF | c.5343C>A (p.His1781Gln) c.3042C>A (p.His1014Gln) c.3102C>A (p.His1034Gln) c.3273C>A (p.His1091Gln) c.5328C>A (p.His1776Gln) c.5388C>A (p.His1796Gln) c.5283C>A (p.His1761Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461887T>A | CA346131688 | OTOF | c.5342A>T (p.His1781Leu) c.3041A>T (p.His1014Leu) c.3101A>T (p.His1034Leu) c.3272A>T (p.His1091Leu) c.5327A>T (p.His1776Leu) c.5387A>T (p.His1796Leu) c.5282A>T (p.His1761Leu) | gnomAD v4 |
| 2 | g.26461887T>C | CA346131690 | OTOF | c.5342A>G (p.His1781Arg) c.3041A>G (p.His1014Arg) c.3101A>G (p.His1034Arg) c.3272A>G (p.His1091Arg) c.5327A>G (p.His1776Arg) c.5387A>G (p.His1796Arg) c.5282A>G (p.His1761Arg) | |
| 2 | g.26461887T>G | CA44409231 | OTOF | c.5342A>C (p.His1781Pro) c.3041A>C (p.His1014Pro) c.3101A>C (p.His1034Pro) c.3272A>C (p.His1091Pro) c.5327A>C (p.His1776Pro) c.5387A>C (p.His1796Pro) c.5282A>C (p.His1761Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461887T= | CA1239825479 | OTOF | c.5342A= (p.His1781=) c.3041A= (p.His1014=) c.3101A= (p.His1034=) c.3272A= (p.His1091=) c.5327A= (p.His1776=) c.5387A= (p.His1796=) c.5282A= (p.His1761=) | |
| 2 | g.26461888G>A | CA346131692 | OTOF | c.5341C>T (p.His1781Tyr) c.3040C>T (p.His1014Tyr) c.3100C>T (p.His1034Tyr) c.3271C>T (p.His1091Tyr) c.5326C>T (p.His1776Tyr) c.5386C>T (p.His1796Tyr) c.5281C>T (p.His1761Tyr) | |
| 2 | g.26461888G>C | CA346131694 | OTOF | c.5341C>G (p.His1781Asp) c.3040C>G (p.His1014Asp) c.3100C>G (p.His1034Asp) c.3271C>G (p.His1091Asp) c.5326C>G (p.His1776Asp) c.5386C>G (p.His1796Asp) c.5281C>G (p.His1761Asp) | |
| 2 | g.26461888G>T | CA346131695 | OTOF | c.5341C>A (p.His1781Asn) c.3040C>A (p.His1014Asn) c.3100C>A (p.His1034Asn) c.3271C>A (p.His1091Asn) c.5326C>A (p.His1776Asn) c.5386C>A (p.His1796Asn) c.5281C>A (p.His1761Asn) | |
| 2 | g.26461889G>A | CA425359406 | OTOF | c.5340C>T (p.Tyr1780=) c.3039C>T (p.Tyr1013=) c.3099C>T (p.Tyr1033=) c.3270C>T (p.Tyr1090=) c.5325C>T (p.Tyr1775=) c.5385C>T (p.Tyr1795=) c.5280C>T (p.Tyr1760=) | |
| 2 | g.26461889G>C | CA346131697 | OTOF | c.5340C>G (p.Tyr1780Ter) c.3039C>G (p.Tyr1013Ter) c.3099C>G (p.Tyr1033Ter) c.3270C>G (p.Tyr1090Ter) c.5325C>G (p.Tyr1775Ter) c.5385C>G (p.Tyr1795Ter) c.5280C>G (p.Tyr1760Ter) | |
| 2 | g.26461889G>T | CA346131698 | OTOF | c.5340C>A (p.Tyr1780Ter) c.3039C>A (p.Tyr1013Ter) c.3099C>A (p.Tyr1033Ter) c.3270C>A (p.Tyr1090Ter) c.5325C>A (p.Tyr1775Ter) c.5385C>A (p.Tyr1795Ter) c.5280C>A (p.Tyr1760Ter) | |
| 2 | g.26461890T>A | CA346131700 | OTOF | c.5339A>T (p.Tyr1780Phe) c.3038A>T (p.Tyr1013Phe) c.3098A>T (p.Tyr1033Phe) c.3269A>T (p.Tyr1090Phe) c.5324A>T (p.Tyr1775Phe) c.5384A>T (p.Tyr1795Phe) c.5279A>T (p.Tyr1760Phe) | |
| 2 | g.26461890T>C | CA346131701 | OTOF | c.5339A>G (p.Tyr1780Cys) c.3038A>G (p.Tyr1013Cys) c.3098A>G (p.Tyr1033Cys) c.3269A>G (p.Tyr1090Cys) c.5324A>G (p.Tyr1775Cys) c.5384A>G (p.Tyr1795Cys) c.5279A>G (p.Tyr1760Cys) | COSMIC COSMIC |
| 2 | g.26461890T>G | CA346131702 | OTOF | c.5339A>C (p.Tyr1780Ser) c.3038A>C (p.Tyr1013Ser) c.3098A>C (p.Tyr1033Ser) c.3269A>C (p.Tyr1090Ser) c.5324A>C (p.Tyr1775Ser) c.5384A>C (p.Tyr1795Ser) c.5279A>C (p.Tyr1760Ser) | |
| 2 | g.26461891A>C | CA346131705 | OTOF | c.5338T>G (p.Tyr1780Asp) c.3037T>G (p.Tyr1013Asp) c.3097T>G (p.Tyr1033Asp) c.3268T>G (p.Tyr1090Asp) c.5323T>G (p.Tyr1775Asp) c.5383T>G (p.Tyr1795Asp) c.5278T>G (p.Tyr1760Asp) | |
| 2 | g.26461891A>G | CA346131707 | OTOF | c.5338T>C (p.Tyr1780His) c.3037T>C (p.Tyr1013His) c.3097T>C (p.Tyr1033His) c.3268T>C (p.Tyr1090His) c.5323T>C (p.Tyr1775His) c.5383T>C (p.Tyr1795His) c.5278T>C (p.Tyr1760His) | |
| 2 | g.26461891A>T | CA346131704 | OTOF | c.5338T>A (p.Tyr1780Asn) c.3037T>A (p.Tyr1013Asn) c.3097T>A (p.Tyr1033Asn) c.3268T>A (p.Tyr1090Asn) c.5323T>A (p.Tyr1775Asn) c.5383T>A (p.Tyr1795Asn) c.5278T>A (p.Tyr1760Asn) | |
| 2 | g.26461892G>A | CA425359408 | OTOF | c.5337C>T (p.His1779=) c.3036C>T (p.His1012=) c.3096C>T (p.His1032=) c.3267C>T (p.His1089=) c.5322C>T (p.His1774=) c.5382C>T (p.His1794=) c.5277C>T (p.His1759=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461892G>C | CA346131710 | OTOF | c.5337C>G (p.His1779Gln) c.3036C>G (p.His1012Gln) c.3096C>G (p.His1032Gln) c.3267C>G (p.His1089Gln) c.5322C>G (p.His1774Gln) c.5382C>G (p.His1794Gln) c.5277C>G (p.His1759Gln) | |
| 2 | g.26461892G= | CA1239825480 | OTOF | c.5337C= (p.His1779=) c.3036C= (p.His1012=) c.3096C= (p.His1032=) c.3267C= (p.His1089=) c.5322C= (p.His1774=) c.5382C= (p.His1794=) c.5277C= (p.His1759=) | |
| 2 | g.26461892G>T | CA346131708 | OTOF | c.5337C>A (p.His1779Gln) c.3036C>A (p.His1012Gln) c.3096C>A (p.His1032Gln) c.3267C>A (p.His1089Gln) c.5322C>A (p.His1774Gln) c.5382C>A (p.His1794Gln) c.5277C>A (p.His1759Gln) | |
| 2 | g.26461893T>A | CA346131711 | OTOF | c.5336A>T (p.His1779Leu) c.3035A>T (p.His1012Leu) c.3095A>T (p.His1032Leu) c.3266A>T (p.His1089Leu) c.5321A>T (p.His1774Leu) c.5381A>T (p.His1794Leu) c.5276A>T (p.His1759Leu) | |
| 2 | g.26461893T>C | CA346131712 | OTOF | c.5336A>G (p.His1779Arg) c.3035A>G (p.His1012Arg) c.3095A>G (p.His1032Arg) c.3266A>G (p.His1089Arg) c.5321A>G (p.His1774Arg) c.5381A>G (p.His1794Arg) c.5276A>G (p.His1759Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461893T>G | CA346131714 | OTOF | c.5336A>C (p.His1779Pro) c.3035A>C (p.His1012Pro) c.3095A>C (p.His1032Pro) c.3266A>C (p.His1089Pro) c.5321A>C (p.His1774Pro) c.5381A>C (p.His1794Pro) c.5276A>C (p.His1759Pro) | |
| 2 | g.26461893T= | CA1239825481 | OTOF | c.5336A= (p.His1779=) c.3035A= (p.His1012=) c.3095A= (p.His1032=) c.3266A= (p.His1089=) c.5321A= (p.His1774=) c.5381A= (p.His1794=) c.5276A= (p.His1759=) | |
| 2 | g.26461894G>A | CA44409232 | OTOF | c.5335C>T (p.His1779Tyr) c.3034C>T (p.His1012Tyr) c.3094C>T (p.His1032Tyr) c.3265C>T (p.His1089Tyr) c.5320C>T (p.His1774Tyr) c.5380C>T (p.His1794Tyr) c.5275C>T (p.His1759Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26461894G>C | CA346131715 | OTOF | c.5335C>G (p.His1779Asp) c.3034C>G (p.His1012Asp) c.3094C>G (p.His1032Asp) c.3265C>G (p.His1089Asp) c.5320C>G (p.His1774Asp) c.5380C>G (p.His1794Asp) c.5275C>G (p.His1759Asp) | |
| 2 | g.26461894G= | CA1239825482 | OTOF | c.5335C= (p.His1779=) c.3034C= (p.His1012=) c.3094C= (p.His1032=) c.3265C= (p.His1089=) c.5320C= (p.His1774=) c.5380C= (p.His1794=) c.5275C= (p.His1759=) | |
| 2 | g.26461894G>T | CA346131716 | OTOF | c.5335C>A (p.His1779Asn) c.3034C>A (p.His1012Asn) c.3094C>A (p.His1032Asn) c.3265C>A (p.His1089Asn) c.5320C>A (p.His1774Asn) c.5380C>A (p.His1794Asn) c.5275C>A (p.His1759Asn) | |
| 2 | g.26461895del | CA2749240305 | OTOF | c.5335del (p.His1779ThrfsTer?) c.3034del (p.His1012ThrfsTer?) c.3094del (p.His1032ThrfsTer?) c.3265del (p.His1089ThrfsTer?) c.5320del (p.His1774ThrfsTer?) c.5380del (p.His1794ThrfsTer?) c.5275del (p.His1759ThrfsTer?) | |
| 2 | g.26461895G>A | CA425359409 | OTOF | c.5334C>T (p.Val1778=) c.3033C>T (p.Val1011=) c.3093C>T (p.Val1031=) c.3264C>T (p.Val1088=) c.5319C>T (p.Val1773=) c.5379C>T (p.Val1793=) c.5274C>T (p.Val1758=) | |
| 2 | g.26461895G>C | CA425359410 | OTOF | c.5334C>G (p.Val1778=) c.3033C>G (p.Val1011=) c.3093C>G (p.Val1031=) c.3264C>G (p.Val1088=) c.5319C>G (p.Val1773=) c.5379C>G (p.Val1793=) c.5274C>G (p.Val1758=) | |
| 2 | g.26461895G>T | CA425359412 | OTOF | c.5334C>A (p.Val1778=) c.3033C>A (p.Val1011=) c.3093C>A (p.Val1031=) c.3264C>A (p.Val1088=) c.5319C>A (p.Val1773=) c.5379C>A (p.Val1793=) c.5274C>A (p.Val1758=) | |
| 2 | g.26461896A>C | CA346131717 | OTOF | c.5333T>G (p.Val1778Gly) c.3032T>G (p.Val1011Gly) c.3092T>G (p.Val1031Gly) c.3263T>G (p.Val1088Gly) c.5318T>G (p.Val1773Gly) c.5378T>G (p.Val1793Gly) c.5273T>G (p.Val1758Gly) | |
| 2 | g.26461896A>G | CA346131718 | OTOF | c.5333T>C (p.Val1778Ala) c.3032T>C (p.Val1011Ala) c.3092T>C (p.Val1031Ala) c.3263T>C (p.Val1088Ala) c.5318T>C (p.Val1773Ala) c.5378T>C (p.Val1793Ala) c.5273T>C (p.Val1758Ala) | |
| 2 | g.26461896A>T | CA346131719 | OTOF | c.5333T>A (p.Val1778Asp) c.3032T>A (p.Val1011Asp) c.3092T>A (p.Val1031Asp) c.3263T>A (p.Val1088Asp) c.5318T>A (p.Val1773Asp) c.5378T>A (p.Val1793Asp) c.5273T>A (p.Val1758Asp) | |
| 2 | g.26461897C>A | CA262047 | OTOF | c.5332G>T (p.Val1778Phe) c.3031G>T (p.Val1011Phe) c.3091G>T (p.Val1031Phe) c.3262G>T (p.Val1088Phe) c.5317G>T (p.Val1773Phe) c.5377G>T (p.Val1793Phe) c.5272G>T (p.Val1758Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461897C= | CA1239825483 | OTOF | c.5332G= (p.Val1778=) c.3031G= (p.Val1011=) c.3091G= (p.Val1031=) c.3262G= (p.Val1088=) c.5317G= (p.Val1773=) c.5377G= (p.Val1793=) c.5272G= (p.Val1758=) | |
| 2 | g.26461897C>G | CA346131721 | OTOF | c.5332G>C (p.Val1778Leu) c.3031G>C (p.Val1011Leu) c.3091G>C (p.Val1031Leu) c.3262G>C (p.Val1088Leu) c.5317G>C (p.Val1773Leu) c.5377G>C (p.Val1793Leu) c.5272G>C (p.Val1758Leu) | |
| 2 | g.26461897C>T | CA1562846 | OTOF | c.5332G>A (p.Val1778Ile) c.3031G>A (p.Val1011Ile) c.3091G>A (p.Val1031Ile) c.3262G>A (p.Val1088Ile) c.5317G>A (p.Val1773Ile) c.5377G>A (p.Val1793Ile) c.5272G>A (p.Val1758Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461898G>A | CA1562847 | OTOF | c.5331C>T (p.Asp1777=) c.3030C>T (p.Asp1010=) c.3090C>T (p.Asp1030=) c.3261C>T (p.Asp1087=) c.5316C>T (p.Asp1772=) c.5376C>T (p.Asp1792=) c.5271C>T (p.Asp1757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461898G>C | CA346131723 | OTOF | c.5331C>G (p.Asp1777Glu) c.3030C>G (p.Asp1010Glu) c.3090C>G (p.Asp1030Glu) c.3261C>G (p.Asp1087Glu) c.5316C>G (p.Asp1772Glu) c.5376C>G (p.Asp1792Glu) c.5271C>G (p.Asp1757Glu) | gnomAD v4 |
| 2 | g.26461898G= | CA1239825484 | OTOF | c.5331C= (p.Asp1777=) c.3030C= (p.Asp1010=) c.3090C= (p.Asp1030=) c.3261C= (p.Asp1087=) c.5316C= (p.Asp1772=) c.5376C= (p.Asp1792=) c.5271C= (p.Asp1757=) | |
| 2 | g.26461898G>T | CA346131724 | OTOF | c.5331C>A (p.Asp1777Glu) c.3030C>A (p.Asp1010Glu) c.3090C>A (p.Asp1030Glu) c.3261C>A (p.Asp1087Glu) c.5316C>A (p.Asp1772Glu) c.5376C>A (p.Asp1792Glu) c.5271C>A (p.Asp1757Glu) | gnomAD v4 |
| 2 | g.26461899T>A | CA346131726 | OTOF | c.5330A>T (p.Asp1777Val) c.3029A>T (p.Asp1010Val) c.3089A>T (p.Asp1030Val) c.3260A>T (p.Asp1087Val) c.5315A>T (p.Asp1772Val) c.5375A>T (p.Asp1792Val) c.5270A>T (p.Asp1757Val) | |
| 2 | g.26461899T>C | CA346131728 | OTOF | c.5330A>G (p.Asp1777Gly) c.3029A>G (p.Asp1010Gly) c.3089A>G (p.Asp1030Gly) c.3260A>G (p.Asp1087Gly) c.5315A>G (p.Asp1772Gly) c.5375A>G (p.Asp1792Gly) c.5270A>G (p.Asp1757Gly) | ClinVar |
| 2 | g.26461899T>G | CA346131732 | OTOF | c.5330A>C (p.Asp1777Ala) c.3029A>C (p.Asp1010Ala) c.3089A>C (p.Asp1030Ala) c.3260A>C (p.Asp1087Ala) c.5315A>C (p.Asp1772Ala) c.5375A>C (p.Asp1792Ala) c.5270A>C (p.Asp1757Ala) | |
| 2 | g.26461900C>A | CA346131733 | OTOF | c.5329G>T (p.Asp1777Tyr) c.3028G>T (p.Asp1010Tyr) c.3088G>T (p.Asp1030Tyr) c.3259G>T (p.Asp1087Tyr) c.5314G>T (p.Asp1772Tyr) c.5374G>T (p.Asp1792Tyr) c.5269G>T (p.Asp1757Tyr) | |
| 2 | g.26461900C>G | CA346131735 | OTOF | c.5329G>C (p.Asp1777His) c.3028G>C (p.Asp1010His) c.3088G>C (p.Asp1030His) c.3259G>C (p.Asp1087His) c.5314G>C (p.Asp1772His) c.5374G>C (p.Asp1792His) c.5269G>C (p.Asp1757His) | |
| 2 | g.26461900C>T | CA346131736 | OTOF | c.5329G>A (p.Asp1777Asn) c.3028G>A (p.Asp1010Asn) c.3088G>A (p.Asp1030Asn) c.3259G>A (p.Asp1087Asn) c.5314G>A (p.Asp1772Asn) c.5374G>A (p.Asp1792Asn) c.5269G>A (p.Asp1757Asn) | |
| 2 | g.26461901T>A | CA425359414 | OTOF | c.5328A>T (p.Thr1776=) c.3027A>T (p.Thr1009=) c.3087A>T (p.Thr1029=) c.3258A>T (p.Thr1086=) c.5313A>T (p.Thr1771=) c.5373A>T (p.Thr1791=) c.5268A>T (p.Thr1756=) | |
| 2 | g.26461901T>C | CA425359415 | OTOF | c.5328A>G (p.Thr1776=) c.3027A>G (p.Thr1009=) c.3087A>G (p.Thr1029=) c.3258A>G (p.Thr1086=) c.5313A>G (p.Thr1771=) c.5373A>G (p.Thr1791=) c.5268A>G (p.Thr1756=) | |
| 2 | g.26461901T>G | CA425359416 | OTOF | c.5328A>C (p.Thr1776=) c.3027A>C (p.Thr1009=) c.3087A>C (p.Thr1029=) c.3258A>C (p.Thr1086=) c.5313A>C (p.Thr1771=) c.5373A>C (p.Thr1791=) c.5268A>C (p.Thr1756=) | |
| 2 | g.26461902G>A | CA346131737 | OTOF | c.5327C>T (p.Thr1776Ile) c.3026C>T (p.Thr1009Ile) c.3086C>T (p.Thr1029Ile) c.3257C>T (p.Thr1086Ile) c.5312C>T (p.Thr1771Ile) c.5372C>T (p.Thr1791Ile) c.5267C>T (p.Thr1756Ile) | |
| 2 | g.26461902G>C | CA346131738 | OTOF | c.5327C>G (p.Thr1776Arg) c.3026C>G (p.Thr1009Arg) c.3086C>G (p.Thr1029Arg) c.3257C>G (p.Thr1086Arg) c.5312C>G (p.Thr1771Arg) c.5372C>G (p.Thr1791Arg) c.5267C>G (p.Thr1756Arg) | |
| 2 | g.26461902G>T | CA346131740 | OTOF | c.5327C>A (p.Thr1776Lys) c.3026C>A (p.Thr1009Lys) c.3086C>A (p.Thr1029Lys) c.3257C>A (p.Thr1086Lys) c.5312C>A (p.Thr1771Lys) c.5372C>A (p.Thr1791Lys) c.5267C>A (p.Thr1756Lys) |