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.26465669T>A | CA2658234256 | OTOF | c.4799+3A>T (n.4799+3A>T) c.2498+3A>T (n.2498+3A>T) c.2558+3A>T (n.2558+3A>T) c.2729+3A>T (n.2729+3A>T) n.548+3A>T c.4784+3A>T (n.4784+3A>T) c.4844+3A>T (n.4844+3A>T) c.4739+3A>T (n.4739+3A>T) | gnomAD v4 |
| 2 | g.26465670A= | CA1239816568 | OTOF | c.4799+2T= (n.4799+2T=) c.2498+2T= (n.2498+2T=) c.2558+2T= (n.2558+2T=) c.2729+2T= (n.2729+2T=) n.548+2T= c.4784+2T= (n.4784+2T=) c.4844+2T= (n.4844+2T=) c.4739+2T= (n.4739+2T=) | |
| 2 | g.26465670A>C | CA346135196 | OTOF | c.4799+2T>G (n.4799+2T>G) c.2498+2T>G (n.2498+2T>G) c.2558+2T>G (n.2558+2T>G) c.2729+2T>G (n.2729+2T>G) n.548+2T>G c.4784+2T>G (n.4784+2T>G) c.4844+2T>G (n.4844+2T>G) c.4739+2T>G (n.4739+2T>G) | |
| 2 | g.26465670A>G | CA1563041 | OTOF | c.4799+2T>C (n.4799+2T>C) c.2498+2T>C (n.2498+2T>C) c.2558+2T>C (n.2558+2T>C) c.2729+2T>C (n.2729+2T>C) n.548+2T>C c.4784+2T>C (n.4784+2T>C) c.4844+2T>C (n.4844+2T>C) c.4739+2T>C (n.4739+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465670A>T | CA346135201 | OTOF | c.4799+2T>A (n.4799+2T>A) c.2498+2T>A (n.2498+2T>A) c.2558+2T>A (n.2558+2T>A) c.2729+2T>A (n.2729+2T>A) n.548+2T>A c.4784+2T>A (n.4784+2T>A) c.4844+2T>A (n.4844+2T>A) c.4739+2T>A (n.4739+2T>A) | |
| 2 | g.26465671C>A | CA346135203 | OTOF | c.4799+1G>T (n.4799+1G>T) c.2498+1G>T (n.2498+1G>T) c.2558+1G>T (n.2558+1G>T) c.2729+1G>T (n.2729+1G>T) n.548+1G>T c.4784+1G>T (n.4784+1G>T) c.4844+1G>T (n.4844+1G>T) c.4739+1G>T (n.4739+1G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26465671C= | CA1239816572 | OTOF | c.4799+1G= (n.4799+1G=) c.2498+1G= (n.2498+1G=) c.2558+1G= (n.2558+1G=) c.2729+1G= (n.2729+1G=) n.548+1G= c.4784+1G= (n.4784+1G=) c.4844+1G= (n.4844+1G=) c.4739+1G= (n.4739+1G=) | |
| 2 | g.26465671C>G | CA1563042 | OTOF | c.4799+1G>C (n.4799+1G>C) c.2498+1G>C (n.2498+1G>C) c.2558+1G>C (n.2558+1G>C) c.2729+1G>C (n.2729+1G>C) n.548+1G>C c.4784+1G>C (n.4784+1G>C) c.4844+1G>C (n.4844+1G>C) c.4739+1G>C (n.4739+1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26465671C>T | CA273212 | OTOF | c.4799+1G>A (n.4799+1G>A) c.2498+1G>A (n.2498+1G>A) c.2558+1G>A (n.2558+1G>A) c.2729+1G>A (n.2729+1G>A) n.548+1G>A c.4784+1G>A (n.4784+1G>A) c.4844+1G>A (n.4844+1G>A) c.4739+1G>A (n.4739+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26465672G>A | CA1563043 | OTOF | c.4799C>T (p.Thr1600Ile) c.2498C>T (p.Thr833Ile) c.2558C>T (p.Thr853Ile) c.2729C>T (p.Thr910Ile) n.548C>T c.4784C>T (p.Thr1595Ile) c.4844C>T (p.Thr1615Ile) c.4739C>T (p.Thr1580Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.26465672G>C | CA346135205 | OTOF | c.4799C>G (p.Thr1600Arg) c.2498C>G (p.Thr833Arg) c.2558C>G (p.Thr853Arg) c.2729C>G (p.Thr910Arg) n.548C>G c.4784C>G (p.Thr1595Arg) c.4844C>G (p.Thr1615Arg) c.4739C>G (p.Thr1580Arg) | |
| 2 | g.26465672G= | CA1239816574 | OTOF | c.4799C= (p.Thr1600=) c.2498C= (p.Thr833=) c.2558C= (p.Thr853=) c.2729C= (p.Thr910=) n.548C= c.4784C= (p.Thr1595=) c.4844C= (p.Thr1615=) c.4739C= (p.Thr1580=) | |
| 2 | g.26465672G>T | CA346135206 | OTOF | c.4799C>A (p.Thr1600Lys) c.2498C>A (p.Thr833Lys) c.2558C>A (p.Thr853Lys) c.2729C>A (p.Thr910Lys) n.548C>A c.4784C>A (p.Thr1595Lys) c.4844C>A (p.Thr1615Lys) c.4739C>A (p.Thr1580Lys) | dbSNP |
| 2 | g.26465673T>A | CA346135211 | OTOF | c.4798A>T (p.Thr1600Ser) c.2497A>T (p.Thr833Ser) c.2557A>T (p.Thr853Ser) c.2728A>T (p.Thr910Ser) n.547A>T c.4783A>T (p.Thr1595Ser) c.4843A>T (p.Thr1615Ser) c.4738A>T (p.Thr1580Ser) | |
| 2 | g.26465673T>C | CA346135209 | OTOF | c.4798A>G (p.Thr1600Ala) c.2497A>G (p.Thr833Ala) c.2557A>G (p.Thr853Ala) c.2728A>G (p.Thr910Ala) n.547A>G c.4783A>G (p.Thr1595Ala) c.4843A>G (p.Thr1615Ala) c.4738A>G (p.Thr1580Ala) | |
| 2 | g.26465673T>G | CA346135208 | OTOF | c.4798A>C (p.Thr1600Pro) c.2497A>C (p.Thr833Pro) c.2557A>C (p.Thr853Pro) c.2728A>C (p.Thr910Pro) n.547A>C c.4783A>C (p.Thr1595Pro) c.4843A>C (p.Thr1615Pro) c.4738A>C (p.Thr1580Pro) | |
| 2 | g.26465674G>A | CA425359373 | OTOF | c.4797C>T (p.Ser1599=) c.2496C>T (p.Ser832=) c.2556C>T (p.Ser852=) c.2727C>T (p.Ser909=) n.546C>T c.4782C>T (p.Ser1594=) c.4842C>T (p.Ser1614=) c.4737C>T (p.Ser1579=) | |
| 2 | g.26465674G>C | CA425359371 | OTOF | c.4797C>G (p.Ser1599=) c.2496C>G (p.Ser832=) c.2556C>G (p.Ser852=) c.2727C>G (p.Ser909=) n.546C>G c.4782C>G (p.Ser1594=) c.4842C>G (p.Ser1614=) c.4737C>G (p.Ser1579=) | |
| 2 | g.26465674G>T | CA425359372 | OTOF | c.4797C>A (p.Ser1599=) c.2496C>A (p.Ser832=) c.2556C>A (p.Ser852=) c.2727C>A (p.Ser909=) n.546C>A c.4782C>A (p.Ser1594=) c.4842C>A (p.Ser1614=) c.4737C>A (p.Ser1579=) | |
| 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) |