| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26461795_26461798delinsCCTT | CA1239825431 | OTOF | c.5431_5434delinsAAGG (p.Lys1811=) c.3130_3133delinsAAGG (p.Lys1044=) c.3190_3193delinsAAGG (p.Lys1064=) c.3361_3364delinsAAGG (p.Lys1121=) c.5416_5419delinsAAGG (p.Lys1806=) c.5476_5479delinsAAGG (p.Lys1826=) c.5371_5374delinsAAGG (p.Lys1791=) | |
| 2 | g.26461799_26461801del | CA531761650 | OTOF | c.5431_5433del (p.Lys1811del) c.3130_3132del (p.Lys1044del) c.3190_3192del (p.Lys1064del) c.3361_3363del (p.Lys1121del) c.5416_5418del (p.Lys1806del) c.5476_5478del (p.Lys1826del) c.5371_5373del (p.Lys1791del) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461797T>A | CA346131467 | OTOF | c.5432A>T (p.Lys1811Met) c.3131A>T (p.Lys1044Met) c.3191A>T (p.Lys1064Met) c.3362A>T (p.Lys1121Met) c.5417A>T (p.Lys1806Met) c.5477A>T (p.Lys1826Met) c.5372A>T (p.Lys1791Met) | |
| 2 | g.26461797T>C | CA346131466 | OTOF | c.5432A>G (p.Lys1811Arg) c.3131A>G (p.Lys1044Arg) c.3191A>G (p.Lys1064Arg) c.3362A>G (p.Lys1121Arg) c.5417A>G (p.Lys1806Arg) c.5477A>G (p.Lys1826Arg) c.5372A>G (p.Lys1791Arg) | |
| 2 | g.26461797T>G | CA346131465 | OTOF | c.5432A>C (p.Lys1811Thr) c.3131A>C (p.Lys1044Thr) c.3191A>C (p.Lys1064Thr) c.3362A>C (p.Lys1121Thr) c.5417A>C (p.Lys1806Thr) c.5477A>C (p.Lys1826Thr) c.5372A>C (p.Lys1791Thr) | |
| 2 | g.26461798T>A | CA346131468 | OTOF | c.5431A>T (p.Lys1811Ter) c.3130A>T (p.Lys1044Ter) c.3190A>T (p.Lys1064Ter) c.3361A>T (p.Lys1121Ter) c.5416A>T (p.Lys1806Ter) c.5476A>T (p.Lys1826Ter) c.5371A>T (p.Lys1791Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.26461798T>C | CA346131469 | OTOF | c.5431A>G (p.Lys1811Glu) c.3130A>G (p.Lys1044Glu) c.3190A>G (p.Lys1064Glu) c.3361A>G (p.Lys1121Glu) c.5416A>G (p.Lys1806Glu) c.5476A>G (p.Lys1826Glu) c.5371A>G (p.Lys1791Glu) | |
| 2 | g.26461798T>G | CA346131470 | OTOF | c.5431A>C (p.Lys1811Gln) c.3130A>C (p.Lys1044Gln) c.3190A>C (p.Lys1064Gln) c.3361A>C (p.Lys1121Gln) c.5416A>C (p.Lys1806Gln) c.5476A>C (p.Lys1826Gln) c.5371A>C (p.Lys1791Gln) | |
| 2 | g.26461798T= | CA1239825433 | OTOF | c.5431A= (p.Lys1811=) c.3130A= (p.Lys1044=) c.3190A= (p.Lys1064=) c.3361A= (p.Lys1121=) c.5416A= (p.Lys1806=) c.5476A= (p.Lys1826=) c.5371A= (p.Lys1791=) | |
| 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.26461799C>A | CA346131471 | OTOF | c.5430G>T (p.Lys1810Asn) c.3129G>T (p.Lys1043Asn) c.3189G>T (p.Lys1063Asn) c.3360G>T (p.Lys1120Asn) c.5415G>T (p.Lys1805Asn) c.5475G>T (p.Lys1825Asn) c.5370G>T (p.Lys1790Asn) | |
| 2 | g.26461799C>G | CA346131472 | OTOF | c.5430G>C (p.Lys1810Asn) c.3129G>C (p.Lys1043Asn) c.3189G>C (p.Lys1063Asn) c.3360G>C (p.Lys1120Asn) c.5415G>C (p.Lys1805Asn) c.5475G>C (p.Lys1825Asn) c.5370G>C (p.Lys1790Asn) | |
| 2 | g.26461799C>T | CA425359339 | OTOF | c.5430G>A (p.Lys1810=) c.3129G>A (p.Lys1043=) c.3189G>A (p.Lys1063=) c.3360G>A (p.Lys1120=) c.5415G>A (p.Lys1805=) c.5475G>A (p.Lys1825=) c.5370G>A (p.Lys1790=) | |
| 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.26461800T>A | CA346131473 | OTOF | c.5429A>T (p.Lys1810Met) c.3128A>T (p.Lys1043Met) c.3188A>T (p.Lys1063Met) c.3359A>T (p.Lys1120Met) c.5414A>T (p.Lys1805Met) c.5474A>T (p.Lys1825Met) c.5369A>T (p.Lys1790Met) | |
| 2 | g.26461800T>C | CA346131474 | OTOF | c.5429A>G (p.Lys1810Arg) c.3128A>G (p.Lys1043Arg) c.3188A>G (p.Lys1063Arg) c.3359A>G (p.Lys1120Arg) c.5414A>G (p.Lys1805Arg) c.5474A>G (p.Lys1825Arg) c.5369A>G (p.Lys1790Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26461800T>G | CA346131475 | OTOF | c.5429A>C (p.Lys1810Thr) c.3128A>C (p.Lys1043Thr) c.3188A>C (p.Lys1063Thr) c.3359A>C (p.Lys1120Thr) c.5414A>C (p.Lys1805Thr) c.5474A>C (p.Lys1825Thr) c.5369A>C (p.Lys1790Thr) | |
| 2 | g.26461800T= | CA1239825434 | OTOF | c.5429A= (p.Lys1810=) c.3128A= (p.Lys1043=) c.3188A= (p.Lys1063=) c.3359A= (p.Lys1120=) c.5414A= (p.Lys1805=) c.5474A= (p.Lys1825=) c.5369A= (p.Lys1790=) | |
| 2 | g.26461801T>A | CA346131476 | OTOF | c.5428A>T (p.Lys1810Ter) c.3127A>T (p.Lys1043Ter) c.3187A>T (p.Lys1063Ter) c.3358A>T (p.Lys1120Ter) c.5413A>T (p.Lys1805Ter) c.5473A>T (p.Lys1825Ter) c.5368A>T (p.Lys1790Ter) | |
| 2 | g.26461801T>C | CA346131477 | OTOF | c.5428A>G (p.Lys1810Glu) c.3127A>G (p.Lys1043Glu) c.3187A>G (p.Lys1063Glu) c.3358A>G (p.Lys1120Glu) c.5413A>G (p.Lys1805Glu) c.5473A>G (p.Lys1825Glu) c.5368A>G (p.Lys1790Glu) | |
| 2 | g.26461801T>G | CA44409144 | OTOF | c.5428A>C (p.Lys1810Gln) c.3127A>C (p.Lys1043Gln) c.3187A>C (p.Lys1063Gln) c.3358A>C (p.Lys1120Gln) c.5413A>C (p.Lys1805Gln) c.5473A>C (p.Lys1825Gln) c.5368A>C (p.Lys1790Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26461801T= | CA1239825435 | OTOF | c.5428A= (p.Lys1810=) c.3127A= (p.Lys1043=) c.3187A= (p.Lys1063=) c.3358A= (p.Lys1120=) c.5413A= (p.Lys1805=) c.5473A= (p.Lys1825=) c.5368A= (p.Lys1790=) | |
| 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) | 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) |