WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26460110_26460112delinsAAC | CA1239824035 | OTOF | c.5907_5909delinsGTT (p.Leu1969=) c.3512+535_3512+537delinsGTT (n.3512+535_3512+537delinsGTT) c.3666_3668delinsGTT (p.Leu1222=) c.3606_3608delinsGTT (p.Leu1202=) c.3837_3839delinsGTT (p.Leu1279=) c.5813+535_5813+537delinsGTT (n.5813+535_5813+537delinsGTT) c.5798+535_5798+537delinsGTT (n.5798+535_5798+537delinsGTT) c.5858+535_5858+537delinsGTT (n.5858+535_5858+537delinsGTT) c.5847_5849delinsGTT (p.Leu1949=) | |
| 2 | g.26460112_26460113del | CA1239824037 | OTOF | c.5907_5908del (p.Leu1970AlafsTer?) c.3512+535_3512+536del (n.3512+535_3512+536del) c.3666_3667del (p.Leu1223AlafsTer?) c.3606_3607del (p.Leu1203AlafsTer?) c.3837_3838del (p.Leu1280AlafsTer?) c.5813+535_5813+536del (n.5813+535_5813+536del) c.5798+535_5798+536del (n.5798+535_5798+536del) c.5858+535_5858+536del (n.5858+535_5858+536del) c.5847_5848del (p.Leu1950AlafsTer?) | dbSNP gnomAD v4 |
| 2 | g.26460112C>A | CA425206550 | OTOF | c.5907G>T (p.Leu1969=) c.3512+535G>T (n.3512+535G>T) c.3666G>T (p.Leu1222=) c.3606G>T (p.Leu1202=) c.3837G>T (p.Leu1279=) c.5813+535G>T (n.5813+535G>T) c.5798+535G>T (n.5798+535G>T) c.5858+535G>T (n.5858+535G>T) c.5847G>T (p.Leu1949=) | gnomAD v4 |
| 2 | g.26460112C= | CA1239824040 | OTOF | c.5907G= (p.Leu1969=) c.3512+535G= (n.3512+535G=) c.3666G= (p.Leu1222=) c.3606G= (p.Leu1202=) c.3837G= (p.Leu1279=) c.5813+535G= (n.5813+535G=) c.5798+535G= (n.5798+535G=) c.5858+535G= (n.5858+535G=) c.5847G= (p.Leu1949=) | |
| 2 | g.26460112C>G | CA425206551 | OTOF | c.5907G>C (p.Leu1969=) c.3512+535G>C (n.3512+535G>C) c.3666G>C (p.Leu1222=) c.3606G>C (p.Leu1202=) c.3837G>C (p.Leu1279=) c.5813+535G>C (n.5813+535G>C) c.5798+535G>C (n.5798+535G>C) c.5858+535G>C (n.5858+535G>C) c.5847G>C (p.Leu1949=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26460112C>T | CA425206553 | OTOF | c.5907G>A (p.Leu1969=) c.3512+535G>A (n.3512+535G>A) c.3666G>A (p.Leu1222=) c.3606G>A (p.Leu1202=) c.3837G>A (p.Leu1279=) c.5813+535G>A (n.5813+535G>A) c.5798+535G>A (n.5798+535G>A) c.5858+535G>A (n.5858+535G>A) c.5847G>A (p.Leu1949=) | ClinVar |
| 2 | g.26460113A= | CA1239824042 | OTOF | c.5906T= (p.Leu1969=) c.3512+534T= (n.3512+534T=) c.3665T= (p.Leu1222=) c.3605T= (p.Leu1202=) c.3836T= (p.Leu1279=) c.5813+534T= (n.5813+534T=) c.5798+534T= (n.5798+534T=) c.5858+534T= (n.5858+534T=) c.5846T= (p.Leu1949=) | |
| 2 | g.26460113A>C | CA346127636 | OTOF | c.5906T>G (p.Leu1969Arg) c.3512+534T>G (n.3512+534T>G) c.3665T>G (p.Leu1222Arg) c.3605T>G (p.Leu1202Arg) c.3836T>G (p.Leu1279Arg) c.5813+534T>G (n.5813+534T>G) c.5798+534T>G (n.5798+534T>G) c.5858+534T>G (n.5858+534T>G) c.5846T>G (p.Leu1949Arg) | |
| 2 | g.26460113A>G | CA1562659 | OTOF | c.5906T>C (p.Leu1969Pro) c.3512+534T>C (n.3512+534T>C) c.3665T>C (p.Leu1222Pro) c.3605T>C (p.Leu1202Pro) c.3836T>C (p.Leu1279Pro) c.5813+534T>C (n.5813+534T>C) c.5798+534T>C (n.5798+534T>C) c.5858+534T>C (n.5858+534T>C) c.5846T>C (p.Leu1949Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.26460113A>T | CA346127635 | OTOF | c.5906T>A (p.Leu1969Gln) c.3512+534T>A (n.3512+534T>A) c.3665T>A (p.Leu1222Gln) c.3605T>A (p.Leu1202Gln) c.3836T>A (p.Leu1279Gln) c.5813+534T>A (n.5813+534T>A) c.5798+534T>A (n.5798+534T>A) c.5858+534T>A (n.5858+534T>A) c.5846T>A (p.Leu1949Gln) | |
| 2 | g.26460114G>A | CA1562660 | OTOF | c.5905C>T (p.Leu1969=) c.3512+533C>T (n.3512+533C>T) c.3664C>T (p.Leu1222=) c.3604C>T (p.Leu1202=) c.3835C>T (p.Leu1279=) c.5813+533C>T (n.5813+533C>T) c.5798+533C>T (n.5798+533C>T) c.5858+533C>T (n.5858+533C>T) c.5845C>T (p.Leu1949=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26460114G>C | CA346127641 | OTOF | c.5905C>G (p.Leu1969Val) c.3512+533C>G (n.3512+533C>G) c.3664C>G (p.Leu1222Val) c.3604C>G (p.Leu1202Val) c.3835C>G (p.Leu1279Val) c.5813+533C>G (n.5813+533C>G) c.5798+533C>G (n.5798+533C>G) c.5858+533C>G (n.5858+533C>G) c.5845C>G (p.Leu1949Val) | |
| 2 | g.26460114G= | CA1239824044 | OTOF | c.5905C= (p.Leu1969=) c.3512+533C= (n.3512+533C=) c.3664C= (p.Leu1222=) c.3604C= (p.Leu1202=) c.3835C= (p.Leu1279=) c.5813+533C= (n.5813+533C=) c.5798+533C= (n.5798+533C=) c.5858+533C= (n.5858+533C=) c.5845C= (p.Leu1949=) | |
| 2 | g.26460114G>T | CA346127639 | OTOF | c.5905C>A (p.Leu1969Met) c.3512+533C>A (n.3512+533C>A) c.3664C>A (p.Leu1222Met) c.3604C>A (p.Leu1202Met) c.3835C>A (p.Leu1279Met) c.5813+533C>A (n.5813+533C>A) c.5798+533C>A (n.5798+533C>A) c.5858+533C>A (n.5858+533C>A) c.5845C>A (p.Leu1949Met) | gnomAD v4 |
| 2 | g.26460115T>A | CA346127643 | OTOF | c.5904A>T (p.Lys1968Asn) c.3512+532A>T (n.3512+532A>T) c.3663A>T (p.Lys1221Asn) c.3603A>T (p.Lys1201Asn) c.3834A>T (p.Lys1278Asn) c.5813+532A>T (n.5813+532A>T) c.5798+532A>T (n.5798+532A>T) c.5858+532A>T (n.5858+532A>T) c.5844A>T (p.Lys1948Asn) | |
| 2 | g.26460115T>C | CA425206557 | OTOF | c.5904A>G (p.Lys1968=) c.3512+532A>G (n.3512+532A>G) c.3663A>G (p.Lys1221=) c.3603A>G (p.Lys1201=) c.3834A>G (p.Lys1278=) c.5813+532A>G (n.5813+532A>G) c.5798+532A>G (n.5798+532A>G) c.5858+532A>G (n.5858+532A>G) c.5844A>G (p.Lys1948=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26460115T>G | CA346127645 | OTOF | c.5904A>C (p.Lys1968Asn) c.3512+532A>C (n.3512+532A>C) c.3663A>C (p.Lys1221Asn) c.3603A>C (p.Lys1201Asn) c.3834A>C (p.Lys1278Asn) c.5813+532A>C (n.5813+532A>C) c.5798+532A>C (n.5798+532A>C) c.5858+532A>C (n.5858+532A>C) c.5844A>C (p.Lys1948Asn) | |
| 2 | g.26460115T= | CA1239824047 | OTOF | c.5904A= (p.Lys1968=) c.3512+532A= (n.3512+532A=) c.3663A= (p.Lys1221=) c.3603A= (p.Lys1201=) c.3834A= (p.Lys1278=) c.5813+532A= (n.5813+532A=) c.5798+532A= (n.5798+532A=) c.5858+532A= (n.5858+532A=) c.5844A= (p.Lys1948=) | |
| 2 | g.26460116T>A | CA346127647 | OTOF | c.5903A>T (p.Lys1968Ile) c.3512+531A>T (n.3512+531A>T) c.3662A>T (p.Lys1221Ile) c.3602A>T (p.Lys1201Ile) c.3833A>T (p.Lys1278Ile) c.5813+531A>T (n.5813+531A>T) c.5798+531A>T (n.5798+531A>T) c.5858+531A>T (n.5858+531A>T) c.5843A>T (p.Lys1948Ile) | |
| 2 | g.26460116T>C | CA1562661 | OTOF | c.5903A>G (p.Lys1968Arg) c.3512+531A>G (n.3512+531A>G) c.3662A>G (p.Lys1221Arg) c.3602A>G (p.Lys1201Arg) c.3833A>G (p.Lys1278Arg) c.5813+531A>G (n.5813+531A>G) c.5798+531A>G (n.5798+531A>G) c.5858+531A>G (n.5858+531A>G) c.5843A>G (p.Lys1948Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26460116T>G | CA346127651 | OTOF | c.5903A>C (p.Lys1968Thr) c.3512+531A>C (n.3512+531A>C) c.3662A>C (p.Lys1221Thr) c.3602A>C (p.Lys1201Thr) c.3833A>C (p.Lys1278Thr) c.5813+531A>C (n.5813+531A>C) c.5798+531A>C (n.5798+531A>C) c.5858+531A>C (n.5858+531A>C) c.5843A>C (p.Lys1948Thr) | |
| 2 | g.26460116T= | CA1239824050 | OTOF | c.5903A= (p.Lys1968=) c.3512+531A= (n.3512+531A=) c.3662A= (p.Lys1221=) c.3602A= (p.Lys1201=) c.3833A= (p.Lys1278=) c.5813+531A= (n.5813+531A=) c.5798+531A= (n.5798+531A=) c.5858+531A= (n.5858+531A=) c.5843A= (p.Lys1948=) | |
| 2 | g.26460117T>A | CA346127652 | OTOF | c.5902A>T (p.Lys1968Ter) c.3512+530A>T (n.3512+530A>T) c.3661A>T (p.Lys1221Ter) c.3601A>T (p.Lys1201Ter) c.3832A>T (p.Lys1278Ter) c.5813+530A>T (n.5813+530A>T) c.5798+530A>T (n.5798+530A>T) c.5858+530A>T (n.5858+530A>T) c.5842A>T (p.Lys1948Ter) | |
| 2 | g.26460117T>C | CA346127653 | OTOF | c.5902A>G (p.Lys1968Glu) c.3512+530A>G (n.3512+530A>G) c.3661A>G (p.Lys1221Glu) c.3601A>G (p.Lys1201Glu) c.3832A>G (p.Lys1278Glu) c.5813+530A>G (n.5813+530A>G) c.5798+530A>G (n.5798+530A>G) c.5858+530A>G (n.5858+530A>G) c.5842A>G (p.Lys1948Glu) | |
| 2 | g.26460117T>G | CA346127658 | OTOF | c.5902A>C (p.Lys1968Gln) c.3512+530A>C (n.3512+530A>C) c.3661A>C (p.Lys1221Gln) c.3601A>C (p.Lys1201Gln) c.3832A>C (p.Lys1278Gln) c.5813+530A>C (n.5813+530A>C) c.5798+530A>C (n.5798+530A>C) c.5858+530A>C (n.5858+530A>C) c.5842A>C (p.Lys1948Gln) | |
| 2 | g.26460117_26460119del | CA2586968797 | OTOF | c.5900_5902del (p.Leu1967_Lys1968delinsGln) c.3512+528_3512+530del (n.3512+528_3512+530del) c.3659_3661del (p.Leu1220_Lys1221delinsGln) c.3599_3601del (p.Leu1200_Lys1201delinsGln) c.3830_3832del (p.Leu1277_Lys1278delinsGln) c.5813+528_5813+530del (n.5813+528_5813+530del) c.5798+528_5798+530del (n.5798+528_5798+530del) c.5858+528_5858+530del (n.5858+528_5858+530del) c.5840_5842del (p.Leu1947_Lys1948delinsGln) | |
| 2 | g.26460118G>A | CA425206563 | OTOF | c.5901C>T (p.Leu1967=) c.3512+529C>T (n.3512+529C>T) c.3660C>T (p.Leu1220=) c.3600C>T (p.Leu1200=) c.3831C>T (p.Leu1277=) c.5813+529C>T (n.5813+529C>T) c.5798+529C>T (n.5798+529C>T) c.5858+529C>T (n.5858+529C>T) c.5841C>T (p.Leu1947=) | gnomAD v4 |
| 2 | g.26460118G>C | CA425206565 | OTOF | c.5901C>G (p.Leu1967=) c.3512+529C>G (n.3512+529C>G) c.3660C>G (p.Leu1220=) c.3600C>G (p.Leu1200=) c.3831C>G (p.Leu1277=) c.5813+529C>G (n.5813+529C>G) c.5798+529C>G (n.5798+529C>G) c.5858+529C>G (n.5858+529C>G) c.5841C>G (p.Leu1947=) | |
| 2 | g.26460118G>T | CA425206566 | OTOF | c.5901C>A (p.Leu1967=) c.3512+529C>A (n.3512+529C>A) c.3660C>A (p.Leu1220=) c.3600C>A (p.Leu1200=) c.3831C>A (p.Leu1277=) c.5813+529C>A (n.5813+529C>A) c.5798+529C>A (n.5798+529C>A) c.5858+529C>A (n.5858+529C>A) c.5841C>A (p.Leu1947=) | |
| 2 | g.26460119A>C | CA346127660 | OTOF | c.5900T>G (p.Leu1967Arg) c.3512+528T>G (n.3512+528T>G) c.3659T>G (p.Leu1220Arg) c.3599T>G (p.Leu1200Arg) c.3830T>G (p.Leu1277Arg) c.5813+528T>G (n.5813+528T>G) c.5798+528T>G (n.5798+528T>G) c.5858+528T>G (n.5858+528T>G) c.5840T>G (p.Leu1947Arg) | |
| 2 | g.26460119A>G | CA346127663 | OTOF | c.5900T>C (p.Leu1967Pro) c.3512+528T>C (n.3512+528T>C) c.3659T>C (p.Leu1220Pro) c.3599T>C (p.Leu1200Pro) c.3830T>C (p.Leu1277Pro) c.5813+528T>C (n.5813+528T>C) c.5798+528T>C (n.5798+528T>C) c.5858+528T>C (n.5858+528T>C) c.5840T>C (p.Leu1947Pro) | |
| 2 | g.26460119A>T | CA346127665 | OTOF | c.5900T>A (p.Leu1967His) c.3512+528T>A (n.3512+528T>A) c.3659T>A (p.Leu1220His) c.3599T>A (p.Leu1200His) c.3830T>A (p.Leu1277His) c.5813+528T>A (n.5813+528T>A) c.5798+528T>A (n.5798+528T>A) c.5858+528T>A (n.5858+528T>A) c.5840T>A (p.Leu1947His) | |
| 2 | g.26460120G>A | CA346127672 | OTOF | c.5899C>T (p.Leu1967Phe) c.3512+527C>T (n.3512+527C>T) c.3658C>T (p.Leu1220Phe) c.3598C>T (p.Leu1200Phe) c.3829C>T (p.Leu1277Phe) c.5813+527C>T (n.5813+527C>T) c.5798+527C>T (n.5798+527C>T) c.5858+527C>T (n.5858+527C>T) c.5839C>T (p.Leu1947Phe) | |
| 2 | g.26460120G>C | CA346127667 | OTOF | c.5899C>G (p.Leu1967Val) c.3512+527C>G (n.3512+527C>G) c.3658C>G (p.Leu1220Val) c.3598C>G (p.Leu1200Val) c.3829C>G (p.Leu1277Val) c.5813+527C>G (n.5813+527C>G) c.5798+527C>G (n.5798+527C>G) c.5858+527C>G (n.5858+527C>G) c.5839C>G (p.Leu1947Val) | |
| 2 | g.26460120G>T | CA346127669 | OTOF | c.5899C>A (p.Leu1967Ile) c.3512+527C>A (n.3512+527C>A) c.3658C>A (p.Leu1220Ile) c.3598C>A (p.Leu1200Ile) c.3829C>A (p.Leu1277Ile) c.5813+527C>A (n.5813+527C>A) c.5798+527C>A (n.5798+527C>A) c.5858+527C>A (n.5858+527C>A) c.5839C>A (p.Leu1947Ile) | gnomAD v4 |
| 2 | g.26460121G>A | CA425206567 | OTOF | c.5898C>T (p.Leu1966=) c.3512+526C>T (n.3512+526C>T) c.3657C>T (p.Leu1219=) c.3597C>T (p.Leu1199=) c.3828C>T (p.Leu1276=) c.5813+526C>T (n.5813+526C>T) c.5798+526C>T (n.5798+526C>T) c.5858+526C>T (n.5858+526C>T) c.5838C>T (p.Leu1946=) | gnomAD v4 |
| 2 | g.26460121G>C | CA425206568 | OTOF | c.5898C>G (p.Leu1966=) c.3512+526C>G (n.3512+526C>G) c.3657C>G (p.Leu1219=) c.3597C>G (p.Leu1199=) c.3828C>G (p.Leu1276=) c.5813+526C>G (n.5813+526C>G) c.5798+526C>G (n.5798+526C>G) c.5858+526C>G (n.5858+526C>G) c.5838C>G (p.Leu1946=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26460121G= | CA1239824052 | OTOF | c.5898C= (p.Leu1966=) c.3512+526C= (n.3512+526C=) c.3657C= (p.Leu1219=) c.3597C= (p.Leu1199=) c.3828C= (p.Leu1276=) c.5813+526C= (n.5813+526C=) c.5798+526C= (n.5798+526C=) c.5858+526C= (n.5858+526C=) c.5838C= (p.Leu1946=) | |
| 2 | g.26460121G>T | CA425206569 | OTOF | c.5898C>A (p.Leu1966=) c.3512+526C>A (n.3512+526C>A) c.3657C>A (p.Leu1219=) c.3597C>A (p.Leu1199=) c.3828C>A (p.Leu1276=) c.5813+526C>A (n.5813+526C>A) c.5798+526C>A (n.5798+526C>A) c.5858+526C>A (n.5858+526C>A) c.5838C>A (p.Leu1946=) | |
| 2 | g.26460122del | CA2658232661 | OTOF | c.5897del (p.Leu1966ProfsTer?) c.3512+525del (n.3512+525del) c.3656del (p.Leu1219ProfsTer?) c.3596del (p.Leu1199ProfsTer?) c.3827del (p.Leu1276ProfsTer?) c.5813+525del (n.5813+525del) c.5798+525del (n.5798+525del) c.5858+525del (n.5858+525del) c.5837del (p.Leu1946ProfsTer?) | gnomAD v4 |
| 2 | g.26460122A= | CA1239824055 | OTOF | c.5897T= (p.Leu1966=) c.3512+525T= (n.3512+525T=) c.3656T= (p.Leu1219=) c.3596T= (p.Leu1199=) c.3827T= (p.Leu1276=) c.5813+525T= (n.5813+525T=) c.5798+525T= (n.5798+525T=) c.5858+525T= (n.5858+525T=) c.5837T= (p.Leu1946=) | |
| 2 | g.26460122A>C | CA346127675 | OTOF | c.5897T>G (p.Leu1966Arg) c.3512+525T>G (n.3512+525T>G) c.3656T>G (p.Leu1219Arg) c.3596T>G (p.Leu1199Arg) c.3827T>G (p.Leu1276Arg) c.5813+525T>G (n.5813+525T>G) c.5798+525T>G (n.5798+525T>G) c.5858+525T>G (n.5858+525T>G) c.5837T>G (p.Leu1946Arg) | gnomAD v4 |
| 2 | g.26460122A>G | CA346127677 | OTOF | c.5897T>C (p.Leu1966Pro) c.3512+525T>C (n.3512+525T>C) c.3656T>C (p.Leu1219Pro) c.3596T>C (p.Leu1199Pro) c.3827T>C (p.Leu1276Pro) c.5813+525T>C (n.5813+525T>C) c.5798+525T>C (n.5798+525T>C) c.5858+525T>C (n.5858+525T>C) c.5837T>C (p.Leu1946Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26460122A>T | CA346127679 | OTOF | c.5897T>A (p.Leu1966His) c.3512+525T>A (n.3512+525T>A) c.3656T>A (p.Leu1219His) c.3596T>A (p.Leu1199His) c.3827T>A (p.Leu1276His) c.5813+525T>A (n.5813+525T>A) c.5798+525T>A (n.5798+525T>A) c.5858+525T>A (n.5858+525T>A) c.5837T>A (p.Leu1946His) | |
| 2 | g.26460123G>A | CA346127682 | OTOF | c.5896C>T (p.Leu1966Phe) c.3512+524C>T (n.3512+524C>T) c.3655C>T (p.Leu1219Phe) c.3595C>T (p.Leu1199Phe) c.3826C>T (p.Leu1276Phe) c.5813+524C>T (n.5813+524C>T) c.5798+524C>T (n.5798+524C>T) c.5858+524C>T (n.5858+524C>T) c.5836C>T (p.Leu1946Phe) | gnomAD v4 |
| 2 | g.26460123G>C | CA346127684 | OTOF | c.5896C>G (p.Leu1966Val) c.3512+524C>G (n.3512+524C>G) c.3655C>G (p.Leu1219Val) c.3595C>G (p.Leu1199Val) c.3826C>G (p.Leu1276Val) c.5813+524C>G (n.5813+524C>G) c.5798+524C>G (n.5798+524C>G) c.5858+524C>G (n.5858+524C>G) c.5836C>G (p.Leu1946Val) | |
| 2 | g.26460123G>T | CA346127685 | OTOF | c.5896C>A (p.Leu1966Ile) c.3512+524C>A (n.3512+524C>A) c.3655C>A (p.Leu1219Ile) c.3595C>A (p.Leu1199Ile) c.3826C>A (p.Leu1276Ile) c.5813+524C>A (n.5813+524C>A) c.5798+524C>A (n.5798+524C>A) c.5858+524C>A (n.5858+524C>A) c.5836C>A (p.Leu1946Ile) | |
| 2 | g.26460124C>A | CA425206571 | OTOF | c.5895G>T (p.Leu1965=) c.3512+523G>T (n.3512+523G>T) c.3654G>T (p.Leu1218=) c.3594G>T (p.Leu1198=) c.3825G>T (p.Leu1275=) c.5813+523G>T (n.5813+523G>T) c.5798+523G>T (n.5798+523G>T) c.5858+523G>T (n.5858+523G>T) c.5835G>T (p.Leu1945=) | gnomAD v4 |
| 2 | g.26460124C>G | CA425206572 | OTOF | c.5895G>C (p.Leu1965=) c.3512+523G>C (n.3512+523G>C) c.3654G>C (p.Leu1218=) c.3594G>C (p.Leu1198=) c.3825G>C (p.Leu1275=) c.5813+523G>C (n.5813+523G>C) c.5798+523G>C (n.5798+523G>C) c.5858+523G>C (n.5858+523G>C) c.5835G>C (p.Leu1945=) | gnomAD v4 |
| 2 | g.26460124C>T | CA425206573 | OTOF | c.5895G>A (p.Leu1965=) c.3512+523G>A (n.3512+523G>A) c.3654G>A (p.Leu1218=) c.3594G>A (p.Leu1198=) c.3825G>A (p.Leu1275=) c.5813+523G>A (n.5813+523G>A) c.5798+523G>A (n.5798+523G>A) c.5858+523G>A (n.5858+523G>A) c.5835G>A (p.Leu1945=) | gnomAD v4 |