UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26465675G>A | CA346135212 | OTOF | c.4796C>T (p.Ser1599Phe) c.2495C>T (p.Ser832Phe) c.2555C>T (p.Ser852Phe) c.2726C>T (p.Ser909Phe) n.545C>T c.4781C>T (p.Ser1594Phe) c.4841C>T (p.Ser1614Phe) c.4736C>T (p.Ser1579Phe) | |
| 2 | g.26465675G>C | CA346135215 | OTOF | c.4796C>G (p.Ser1599Cys) c.2495C>G (p.Ser832Cys) c.2555C>G (p.Ser852Cys) c.2726C>G (p.Ser909Cys) n.545C>G c.4781C>G (p.Ser1594Cys) c.4841C>G (p.Ser1614Cys) c.4736C>G (p.Ser1579Cys) | |
| 2 | g.26465675G>T | CA346135214 | OTOF | c.4796C>A (p.Ser1599Tyr) c.2495C>A (p.Ser832Tyr) c.2555C>A (p.Ser852Tyr) c.2726C>A (p.Ser909Tyr) n.545C>A c.4781C>A (p.Ser1594Tyr) c.4841C>A (p.Ser1614Tyr) c.4736C>A (p.Ser1579Tyr) | |
| 2 | g.26465676A>C | CA346135217 | OTOF | c.4795T>G (p.Ser1599Ala) c.2494T>G (p.Ser832Ala) c.2554T>G (p.Ser852Ala) c.2725T>G (p.Ser909Ala) n.544T>G c.4780T>G (p.Ser1594Ala) c.4840T>G (p.Ser1614Ala) c.4735T>G (p.Ser1579Ala) | gnomAD v4 |
| 2 | g.26465676A>G | CA346135218 | OTOF | c.4795T>C (p.Ser1599Pro) c.2494T>C (p.Ser832Pro) c.2554T>C (p.Ser852Pro) c.2725T>C (p.Ser909Pro) n.544T>C c.4780T>C (p.Ser1594Pro) c.4840T>C (p.Ser1614Pro) c.4735T>C (p.Ser1579Pro) | |
| 2 | g.26465676A>T | CA346135219 | OTOF | c.4795T>A (p.Ser1599Thr) c.2494T>A (p.Ser832Thr) c.2554T>A (p.Ser852Thr) c.2725T>A (p.Ser909Thr) n.544T>A c.4780T>A (p.Ser1594Thr) c.4840T>A (p.Ser1614Thr) c.4735T>A (p.Ser1579Thr) | |
| 2 | g.26465677G>A | CA425359374 | OTOF | c.4794C>T (p.Tyr1598=) c.2493C>T (p.Tyr831=) c.2553C>T (p.Tyr851=) c.2724C>T (p.Tyr908=) n.543C>T c.4779C>T (p.Tyr1593=) c.4839C>T (p.Tyr1613=) c.4734C>T (p.Tyr1578=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26465677G>C | CA346135221 | OTOF | c.4794C>G (p.Tyr1598Ter) c.2493C>G (p.Tyr831Ter) c.2553C>G (p.Tyr851Ter) c.2724C>G (p.Tyr908Ter) n.543C>G c.4779C>G (p.Tyr1593Ter) c.4839C>G (p.Tyr1613Ter) c.4734C>G (p.Tyr1578Ter) | |
| 2 | g.26465677G= | CA1239816578 | OTOF | c.4794C= (p.Tyr1598=) c.2493C= (p.Tyr831=) c.2553C= (p.Tyr851=) c.2724C= (p.Tyr908=) n.543C= c.4779C= (p.Tyr1593=) c.4839C= (p.Tyr1613=) c.4734C= (p.Tyr1578=) | |
| 2 | g.26465677G>T | CA346135223 | OTOF | c.4794C>A (p.Tyr1598Ter) c.2493C>A (p.Tyr831Ter) c.2553C>A (p.Tyr851Ter) c.2724C>A (p.Tyr908Ter) n.543C>A c.4779C>A (p.Tyr1593Ter) c.4839C>A (p.Tyr1613Ter) c.4734C>A (p.Tyr1578Ter) | |
| 2 | g.26465678T>A | CA346135227 | OTOF | c.4793A>T (p.Tyr1598Phe) c.2492A>T (p.Tyr831Phe) c.2552A>T (p.Tyr851Phe) c.2723A>T (p.Tyr908Phe) n.542A>T c.4778A>T (p.Tyr1593Phe) c.4838A>T (p.Tyr1613Phe) c.4733A>T (p.Tyr1578Phe) | |
| 2 | g.26465678T>C | CA346135226 | OTOF | c.4793A>G (p.Tyr1598Cys) c.2492A>G (p.Tyr831Cys) c.2552A>G (p.Tyr851Cys) c.2723A>G (p.Tyr908Cys) n.542A>G c.4778A>G (p.Tyr1593Cys) c.4838A>G (p.Tyr1613Cys) c.4733A>G (p.Tyr1578Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26465678T>G | CA346135225 | OTOF | c.4793A>C (p.Tyr1598Ser) c.2492A>C (p.Tyr831Ser) c.2552A>C (p.Tyr851Ser) c.2723A>C (p.Tyr908Ser) n.542A>C c.4778A>C (p.Tyr1593Ser) c.4838A>C (p.Tyr1613Ser) c.4733A>C (p.Tyr1578Ser) | |
| 2 | g.26465678T= | CA1239816580 | OTOF | c.4793A= (p.Tyr1598=) c.2492A= (p.Tyr831=) c.2552A= (p.Tyr851=) c.2723A= (p.Tyr908=) n.542A= c.4778A= (p.Tyr1593=) c.4838A= (p.Tyr1613=) c.4733A= (p.Tyr1578=) | |
| 2 | g.26465679A>C | CA346135229 | OTOF | c.4792T>G (p.Tyr1598Asp) c.2491T>G (p.Tyr831Asp) c.2551T>G (p.Tyr851Asp) c.2722T>G (p.Tyr908Asp) n.541T>G c.4777T>G (p.Tyr1593Asp) c.4837T>G (p.Tyr1613Asp) c.4732T>G (p.Tyr1578Asp) | |
| 2 | g.26465679A>G | CA346135231 | OTOF | c.4792T>C (p.Tyr1598His) c.2491T>C (p.Tyr831His) c.2551T>C (p.Tyr851His) c.2722T>C (p.Tyr908His) n.541T>C c.4777T>C (p.Tyr1593His) c.4837T>C (p.Tyr1613His) c.4732T>C (p.Tyr1578His) | |
| 2 | g.26465679A>T | CA346135232 | OTOF | c.4792T>A (p.Tyr1598Asn) c.2491T>A (p.Tyr831Asn) c.2551T>A (p.Tyr851Asn) c.2722T>A (p.Tyr908Asn) n.541T>A c.4777T>A (p.Tyr1593Asn) c.4837T>A (p.Tyr1613Asn) c.4732T>A (p.Tyr1578Asn) | |
| 2 | g.26465680G>A | CA425359376 | OTOF | c.4791C>T (p.Thr1597=) c.2490C>T (p.Thr830=) c.2550C>T (p.Thr850=) c.2721C>T (p.Thr907=) n.540C>T c.4776C>T (p.Thr1592=) c.4836C>T (p.Thr1612=) c.4731C>T (p.Thr1577=) | |
| 2 | g.26465680G>C | CA425359375 | OTOF | c.4791C>G (p.Thr1597=) c.2490C>G (p.Thr830=) c.2550C>G (p.Thr850=) c.2721C>G (p.Thr907=) n.540C>G c.4776C>G (p.Thr1592=) c.4836C>G (p.Thr1612=) c.4731C>G (p.Thr1577=) | |
| 2 | g.26465680G>T | CA425359377 | OTOF | c.4791C>A (p.Thr1597=) c.2490C>A (p.Thr830=) c.2550C>A (p.Thr850=) c.2721C>A (p.Thr907=) n.540C>A c.4776C>A (p.Thr1592=) c.4836C>A (p.Thr1612=) c.4731C>A (p.Thr1577=) | |
| 2 | g.26465681del | CA2586968807 | OTOF | c.4791del (p.Tyr1598ThrfsTer13) c.2490del (p.Tyr831ThrfsTer13) c.2550del (p.Tyr851ThrfsTer13) c.2721del (p.Tyr908ThrfsTer13) n.540del c.4776del (p.Tyr1593ThrfsTer13) c.4836del (p.Tyr1613ThrfsTer13) c.4731del (p.Tyr1578ThrfsTer13) | ClinVar |
| 2 | g.26465681G>A | CA1563044 | OTOF | c.4790C>T (p.Thr1597Ile) c.2489C>T (p.Thr830Ile) c.2549C>T (p.Thr850Ile) c.2720C>T (p.Thr907Ile) n.539C>T c.4775C>T (p.Thr1592Ile) c.4835C>T (p.Thr1612Ile) c.4730C>T (p.Thr1577Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465681G>C | CA346135234 | OTOF | c.4790C>G (p.Thr1597Ser) c.2489C>G (p.Thr830Ser) c.2549C>G (p.Thr850Ser) c.2720C>G (p.Thr907Ser) n.539C>G c.4775C>G (p.Thr1592Ser) c.4835C>G (p.Thr1612Ser) c.4730C>G (p.Thr1577Ser) | |
| 2 | g.26465681G= | CA1239816582 | OTOF | c.4790C= (p.Thr1597=) c.2489C= (p.Thr830=) c.2549C= (p.Thr850=) c.2720C= (p.Thr907=) n.539C= c.4775C= (p.Thr1592=) c.4835C= (p.Thr1612=) c.4730C= (p.Thr1577=) | |
| 2 | g.26465681G>T | CA346135235 | OTOF | c.4790C>A (p.Thr1597Asn) c.2489C>A (p.Thr830Asn) c.2549C>A (p.Thr850Asn) c.2720C>A (p.Thr907Asn) n.539C>A c.4775C>A (p.Thr1592Asn) c.4835C>A (p.Thr1612Asn) c.4730C>A (p.Thr1577Asn) | |
| 2 | g.26465682T>A | CA346135236 | OTOF | c.4789A>T (p.Thr1597Ser) c.2488A>T (p.Thr830Ser) c.2548A>T (p.Thr850Ser) c.2719A>T (p.Thr907Ser) n.538A>T c.4774A>T (p.Thr1592Ser) c.4834A>T (p.Thr1612Ser) c.4729A>T (p.Thr1577Ser) | |
| 2 | g.26465682T>C | CA346135240 | OTOF | c.4789A>G (p.Thr1597Ala) c.2488A>G (p.Thr830Ala) c.2548A>G (p.Thr850Ala) c.2719A>G (p.Thr907Ala) n.538A>G c.4774A>G (p.Thr1592Ala) c.4834A>G (p.Thr1612Ala) c.4729A>G (p.Thr1577Ala) | |
| 2 | g.26465682T>G | CA346135238 | OTOF | c.4789A>C (p.Thr1597Pro) c.2488A>C (p.Thr830Pro) c.2548A>C (p.Thr850Pro) c.2719A>C (p.Thr907Pro) n.538A>C c.4774A>C (p.Thr1592Pro) c.4834A>C (p.Thr1612Pro) c.4729A>C (p.Thr1577Pro) | |
| 2 | g.26465683C>A | CA346135241 | OTOF | c.4788G>T (p.Gln1596His) c.2487G>T (p.Gln829His) c.2547G>T (p.Gln849His) c.2718G>T (p.Gln906His) n.537G>T c.4773G>T (p.Gln1591His) c.4833G>T (p.Gln1611His) c.4728G>T (p.Gln1576His) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26465683C= | CA1239816584 | OTOF | c.4788G= (p.Gln1596=) c.2487G= (p.Gln829=) c.2547G= (p.Gln849=) c.2718G= (p.Gln906=) n.537G= c.4773G= (p.Gln1591=) c.4833G= (p.Gln1611=) c.4728G= (p.Gln1576=) | |
| 2 | g.26465683C>G | CA346135242 | OTOF | c.4788G>C (p.Gln1596His) c.2487G>C (p.Gln829His) c.2547G>C (p.Gln849His) c.2718G>C (p.Gln906His) n.537G>C c.4773G>C (p.Gln1591His) c.4833G>C (p.Gln1611His) c.4728G>C (p.Gln1576His) | |
| 2 | g.26465683C>T | CA425359381 | OTOF | c.4788G>A (p.Gln1596=) c.2487G>A (p.Gln829=) c.2547G>A (p.Gln849=) c.2718G>A (p.Gln906=) n.537G>A c.4773G>A (p.Gln1591=) c.4833G>A (p.Gln1611=) c.4728G>A (p.Gln1576=) | |
| 2 | g.26465684T>A | CA346135243 | OTOF | c.4787A>T (p.Gln1596Leu) c.2486A>T (p.Gln829Leu) c.2546A>T (p.Gln849Leu) c.2717A>T (p.Gln906Leu) n.536A>T c.4772A>T (p.Gln1591Leu) c.4832A>T (p.Gln1611Leu) c.4727A>T (p.Gln1576Leu) | |
| 2 | g.26465684T>C | CA346135245 | OTOF | c.4787A>G (p.Gln1596Arg) c.2486A>G (p.Gln829Arg) c.2546A>G (p.Gln849Arg) c.2717A>G (p.Gln906Arg) n.536A>G c.4772A>G (p.Gln1591Arg) c.4832A>G (p.Gln1611Arg) c.4727A>G (p.Gln1576Arg) | |
| 2 | g.26465684T>G | CA346135246 | OTOF | c.4787A>C (p.Gln1596Pro) c.2486A>C (p.Gln829Pro) c.2546A>C (p.Gln849Pro) c.2717A>C (p.Gln906Pro) n.536A>C c.4772A>C (p.Gln1591Pro) c.4832A>C (p.Gln1611Pro) c.4727A>C (p.Gln1576Pro) | |
| 2 | g.26465685G>A | CA346135248 | OTOF | c.4786C>T (p.Gln1596Ter) c.2485C>T (p.Gln829Ter) c.2545C>T (p.Gln849Ter) c.2716C>T (p.Gln906Ter) n.535C>T c.4771C>T (p.Gln1591Ter) c.4831C>T (p.Gln1611Ter) c.4726C>T (p.Gln1576Ter) | gnomAD v4 |
| 2 | g.26465685G>C | CA346135250 | OTOF | c.4786C>G (p.Gln1596Glu) c.2485C>G (p.Gln829Glu) c.2545C>G (p.Gln849Glu) c.2716C>G (p.Gln906Glu) n.535C>G c.4771C>G (p.Gln1591Glu) c.4831C>G (p.Gln1611Glu) c.4726C>G (p.Gln1576Glu) | |
| 2 | g.26465685G>T | CA346135251 | OTOF | c.4786C>A (p.Gln1596Lys) c.2485C>A (p.Gln829Lys) c.2545C>A (p.Gln849Lys) c.2716C>A (p.Gln906Lys) n.535C>A c.4771C>A (p.Gln1591Lys) c.4831C>A (p.Gln1611Lys) c.4726C>A (p.Gln1576Lys) | |
| 2 | g.26465686G>A | CA425359382 | OTOF | c.4785C>T (p.Ala1595=) c.2484C>T (p.Ala828=) c.2544C>T (p.Ala848=) c.2715C>T (p.Ala905=) n.534C>T c.4770C>T (p.Ala1590=) c.4830C>T (p.Ala1610=) c.4725C>T (p.Ala1575=) | dbSNP |
| 2 | g.26465686G>C | CA425359384 | OTOF | c.4785C>G (p.Ala1595=) c.2484C>G (p.Ala828=) c.2544C>G (p.Ala848=) c.2715C>G (p.Ala905=) n.534C>G c.4770C>G (p.Ala1590=) c.4830C>G (p.Ala1610=) c.4725C>G (p.Ala1575=) | |
| 2 | g.26465686G= | CA1239816586 | OTOF | c.4785C= (p.Ala1595=) c.2484C= (p.Ala828=) c.2544C= (p.Ala848=) c.2715C= (p.Ala905=) n.534C= c.4770C= (p.Ala1590=) c.4830C= (p.Ala1610=) c.4725C= (p.Ala1575=) | |
| 2 | g.26465686G>T | CA425359385 | OTOF | c.4785C>A (p.Ala1595=) c.2484C>A (p.Ala828=) c.2544C>A (p.Ala848=) c.2715C>A (p.Ala905=) n.534C>A c.4770C>A (p.Ala1590=) c.4830C>A (p.Ala1610=) c.4725C>A (p.Ala1575=) | |
| 2 | g.26465687G>A | CA346135253 | OTOF | c.4784C>T (p.Ala1595Val) c.2483C>T (p.Ala828Val) c.2543C>T (p.Ala848Val) c.2714C>T (p.Ala905Val) n.533C>T c.4769C>T (p.Ala1590Val) c.4829C>T (p.Ala1610Val) c.4724C>T (p.Ala1575Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465687G>C | CA346135255 | OTOF | c.4784C>G (p.Ala1595Gly) c.2483C>G (p.Ala828Gly) c.2543C>G (p.Ala848Gly) c.2714C>G (p.Ala905Gly) n.533C>G c.4769C>G (p.Ala1590Gly) c.4829C>G (p.Ala1610Gly) c.4724C>G (p.Ala1575Gly) | |
| 2 | g.26465687G= | CA1239816587 | OTOF | c.4784C= (p.Ala1595=) c.2483C= (p.Ala828=) c.2543C= (p.Ala848=) c.2714C= (p.Ala905=) n.533C= c.4769C= (p.Ala1590=) c.4829C= (p.Ala1610=) c.4724C= (p.Ala1575=) | |
| 2 | g.26465687G>T | CA346135256 | OTOF | c.4784C>A (p.Ala1595Asp) c.2483C>A (p.Ala828Asp) c.2543C>A (p.Ala848Asp) c.2714C>A (p.Ala905Asp) n.533C>A c.4769C>A (p.Ala1590Asp) c.4829C>A (p.Ala1610Asp) c.4724C>A (p.Ala1575Asp) | |
| 2 | g.26465688C>A | CA1563045 | OTOF | c.4783G>T (p.Ala1595Ser) c.2482G>T (p.Ala828Ser) c.2542G>T (p.Ala848Ser) c.2713G>T (p.Ala905Ser) n.532G>T c.4768G>T (p.Ala1590Ser) c.4828G>T (p.Ala1610Ser) c.4723G>T (p.Ala1575Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465688C= | CA1239816590 | OTOF | c.4783G= (p.Ala1595=) c.2482G= (p.Ala828=) c.2542G= (p.Ala848=) c.2713G= (p.Ala905=) n.532G= c.4768G= (p.Ala1590=) c.4828G= (p.Ala1610=) c.4723G= (p.Ala1575=) | |
| 2 | g.26465688C>G | CA346135257 | OTOF | c.4783G>C (p.Ala1595Pro) c.2482G>C (p.Ala828Pro) c.2542G>C (p.Ala848Pro) c.2713G>C (p.Ala905Pro) n.532G>C c.4768G>C (p.Ala1590Pro) c.4828G>C (p.Ala1610Pro) c.4723G>C (p.Ala1575Pro) | gnomAD v4 |
| 2 | g.26465688C>T | CA1563046 | OTOF | c.4783G>A (p.Ala1595Thr) c.2482G>A (p.Ala828Thr) c.2542G>A (p.Ala848Thr) c.2713G>A (p.Ala905Thr) n.532G>A c.4768G>A (p.Ala1590Thr) c.4828G>A (p.Ala1610Thr) c.4723G>A (p.Ala1575Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |