| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26460099_26460110dup | CA916495946 | OTOF | c.5919_5930dup (p.Leu1977_Leu1978insLeuLeuLeuLeu) c.3512+547_3512+558dup (n.3512+547_3512+558dup) c.3678_3689dup (p.Leu1230_Leu1231insLeuLeuLeuLeu) c.3618_3629dup (p.Leu1210_Leu1211insLeuLeuLeuLeu) c.3849_3860dup (p.Leu1287_Leu1288insLeuLeuLeuLeu) c.5813+547_5813+558dup (n.5813+547_5813+558dup) c.5798+547_5798+558dup (n.5798+547_5798+558dup) c.5858+547_5858+558dup (n.5858+547_5858+558dup) c.5859_5870dup (p.Leu1957_Leu1958insLeuLeuLeuLeu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26460099_26460110del | CA2594511662 | OTOF | c.5919_5930del (p.Leu1974_Leu1977del) c.3512+547_3512+558del (n.3512+547_3512+558del) c.3678_3689del (p.Leu1227_Leu1230del) c.3618_3629del (p.Leu1207_Leu1210del) c.3849_3860del (p.Leu1284_Leu1287del) c.5813+547_5813+558del (n.5813+547_5813+558del) c.5798+547_5798+558del (n.5798+547_5798+558del) c.5858+547_5858+558del (n.5858+547_5858+558del) c.5859_5870del (p.Leu1954_Leu1957del) | gnomAD v3 gnomAD v4 |
| 2 | g.26460102_26460110del | CA2658232659 | OTOF | c.5916_5924del (p.Leu1973_Leu1975del) c.3512+544_3512+552del (n.3512+544_3512+552del) c.3675_3683del (p.Leu1226_Leu1228del) c.3615_3623del (p.Leu1206_Leu1208del) c.3846_3854del (p.Leu1283_Leu1285del) c.5813+544_5813+552del (n.5813+544_5813+552del) c.5798+544_5798+552del (n.5798+544_5798+552del) c.5858+544_5858+552del (n.5858+544_5858+552del) c.5856_5864del (p.Leu1953_Leu1955del) | gnomAD v4 |
| 2 | g.26460104A>C | CA346127589 | OTOF | c.5915T>G (p.Leu1972Arg) c.3512+543T>G (n.3512+543T>G) c.3674T>G (p.Leu1225Arg) c.3614T>G (p.Leu1205Arg) c.3845T>G (p.Leu1282Arg) c.5813+543T>G (n.5813+543T>G) c.5798+543T>G (n.5798+543T>G) c.5858+543T>G (n.5858+543T>G) c.5855T>G (p.Leu1952Arg) | |
| 2 | g.26460104A>G | CA346127592 | OTOF | c.5915T>C (p.Leu1972Pro) c.3512+543T>C (n.3512+543T>C) c.3674T>C (p.Leu1225Pro) c.3614T>C (p.Leu1205Pro) c.3845T>C (p.Leu1282Pro) c.5813+543T>C (n.5813+543T>C) c.5798+543T>C (n.5798+543T>C) c.5858+543T>C (n.5858+543T>C) c.5855T>C (p.Leu1952Pro) | |
| 2 | g.26460104A>T | CA346127594 | OTOF | c.5915T>A (p.Leu1972His) c.3512+543T>A (n.3512+543T>A) c.3674T>A (p.Leu1225His) c.3614T>A (p.Leu1205His) c.3845T>A (p.Leu1282His) c.5813+543T>A (n.5813+543T>A) c.5798+543T>A (n.5798+543T>A) c.5858+543T>A (n.5858+543T>A) c.5855T>A (p.Leu1952His) | |
| 2 | g.26460105G>A | CA346127597 | OTOF | c.5914C>T (p.Leu1972Phe) c.3512+542C>T (n.3512+542C>T) c.3673C>T (p.Leu1225Phe) c.3613C>T (p.Leu1205Phe) c.3844C>T (p.Leu1282Phe) c.5813+542C>T (n.5813+542C>T) c.5798+542C>T (n.5798+542C>T) c.5858+542C>T (n.5858+542C>T) c.5854C>T (p.Leu1952Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26460105G>C | CA346127602 | OTOF | c.5914C>G (p.Leu1972Val) c.3512+542C>G (n.3512+542C>G) c.3673C>G (p.Leu1225Val) c.3613C>G (p.Leu1205Val) c.3844C>G (p.Leu1282Val) c.5813+542C>G (n.5813+542C>G) c.5798+542C>G (n.5798+542C>G) c.5858+542C>G (n.5858+542C>G) c.5854C>G (p.Leu1952Val) | |
| 2 | g.26460105G= | CA1239824032 | OTOF | c.5914C= (p.Leu1972=) c.3512+542C= (n.3512+542C=) c.3673C= (p.Leu1225=) c.3613C= (p.Leu1205=) c.3844C= (p.Leu1282=) c.5813+542C= (n.5813+542C=) c.5798+542C= (n.5798+542C=) c.5858+542C= (n.5858+542C=) c.5854C= (p.Leu1952=) | |
| 2 | g.26460105G>T | CA346127599 | OTOF | c.5914C>A (p.Leu1972Ile) c.3512+542C>A (n.3512+542C>A) c.3673C>A (p.Leu1225Ile) c.3613C>A (p.Leu1205Ile) c.3844C>A (p.Leu1282Ile) c.5813+542C>A (n.5813+542C>A) c.5798+542C>A (n.5798+542C>A) c.5858+542C>A (n.5858+542C>A) c.5854C>A (p.Leu1952Ile) | COSMIC COSMIC |
| 2 | g.26460106C>A | CA425206542 | OTOF | c.5913G>T (p.Leu1971=) c.3512+541G>T (n.3512+541G>T) c.3672G>T (p.Leu1224=) c.3612G>T (p.Leu1204=) c.3843G>T (p.Leu1281=) c.5813+541G>T (n.5813+541G>T) c.5798+541G>T (n.5798+541G>T) c.5858+541G>T (n.5858+541G>T) c.5853G>T (p.Leu1951=) | gnomAD v4 |
| 2 | g.26460106C>G | CA425206544 | OTOF | c.5913G>C (p.Leu1971=) c.3512+541G>C (n.3512+541G>C) c.3672G>C (p.Leu1224=) c.3612G>C (p.Leu1204=) c.3843G>C (p.Leu1281=) c.5813+541G>C (n.5813+541G>C) c.5798+541G>C (n.5798+541G>C) c.5858+541G>C (n.5858+541G>C) c.5853G>C (p.Leu1951=) | |
| 2 | g.26460106C>T | CA425206543 | OTOF | c.5913G>A (p.Leu1971=) c.3512+541G>A (n.3512+541G>A) c.3672G>A (p.Leu1224=) c.3612G>A (p.Leu1204=) c.3843G>A (p.Leu1281=) c.5813+541G>A (n.5813+541G>A) c.5798+541G>A (n.5798+541G>A) c.5858+541G>A (n.5858+541G>A) c.5853G>A (p.Leu1951=) | gnomAD v4 COSMIC COSMIC |
| 2 | g.26460107A>C | CA346127604 | OTOF | c.5912T>G (p.Leu1971Arg) c.3512+540T>G (n.3512+540T>G) c.3671T>G (p.Leu1224Arg) c.3611T>G (p.Leu1204Arg) c.3842T>G (p.Leu1281Arg) c.5813+540T>G (n.5813+540T>G) c.5798+540T>G (n.5798+540T>G) c.5858+540T>G (n.5858+540T>G) c.5852T>G (p.Leu1951Arg) | |
| 2 | g.26460107A>G | CA346127606 | OTOF | c.5912T>C (p.Leu1971Pro) c.3512+540T>C (n.3512+540T>C) c.3671T>C (p.Leu1224Pro) c.3611T>C (p.Leu1204Pro) c.3842T>C (p.Leu1281Pro) c.5813+540T>C (n.5813+540T>C) c.5798+540T>C (n.5798+540T>C) c.5858+540T>C (n.5858+540T>C) c.5852T>C (p.Leu1951Pro) | |
| 2 | g.26460107A>T | CA346127607 | OTOF | c.5912T>A (p.Leu1971Gln) c.3512+540T>A (n.3512+540T>A) c.3671T>A (p.Leu1224Gln) c.3611T>A (p.Leu1204Gln) c.3842T>A (p.Leu1281Gln) c.5813+540T>A (n.5813+540T>A) c.5798+540T>A (n.5798+540T>A) c.5858+540T>A (n.5858+540T>A) c.5852T>A (p.Leu1951Gln) | |
| 2 | g.26460108G>A | CA425206545 | OTOF | c.5911C>T (p.Leu1971=) c.3512+539C>T (n.3512+539C>T) c.3670C>T (p.Leu1224=) c.3610C>T (p.Leu1204=) c.3841C>T (p.Leu1281=) c.5813+539C>T (n.5813+539C>T) c.5798+539C>T (n.5798+539C>T) c.5858+539C>T (n.5858+539C>T) c.5851C>T (p.Leu1951=) | gnomAD v4 |
| 2 | g.26460108G>C | CA346127609 | OTOF | c.5911C>G (p.Leu1971Val) c.3512+539C>G (n.3512+539C>G) c.3670C>G (p.Leu1224Val) c.3610C>G (p.Leu1204Val) c.3841C>G (p.Leu1281Val) c.5813+539C>G (n.5813+539C>G) c.5798+539C>G (n.5798+539C>G) c.5858+539C>G (n.5858+539C>G) c.5851C>G (p.Leu1951Val) | |
| 2 | g.26460108G>T | CA346127612 | OTOF | c.5911C>A (p.Leu1971Met) c.3512+539C>A (n.3512+539C>A) c.3670C>A (p.Leu1224Met) c.3610C>A (p.Leu1204Met) c.3841C>A (p.Leu1281Met) c.5813+539C>A (n.5813+539C>A) c.5798+539C>A (n.5798+539C>A) c.5858+539C>A (n.5858+539C>A) c.5851C>A (p.Leu1951Met) | gnomAD v4 |
| 2 | g.26460109C>A | CA346127615 | OTOF | c.5910G>T (p.Leu1970Phe) c.3512+538G>T (n.3512+538G>T) c.3669G>T (p.Leu1223Phe) c.3609G>T (p.Leu1203Phe) c.3840G>T (p.Leu1280Phe) c.5813+538G>T (n.5813+538G>T) c.5798+538G>T (n.5798+538G>T) c.5858+538G>T (n.5858+538G>T) c.5850G>T (p.Leu1950Phe) | |
| 2 | g.26460109C>G | CA346127618 | OTOF | c.5910G>C (p.Leu1970Phe) c.3512+538G>C (n.3512+538G>C) c.3669G>C (p.Leu1223Phe) c.3609G>C (p.Leu1203Phe) c.3840G>C (p.Leu1280Phe) c.5813+538G>C (n.5813+538G>C) c.5798+538G>C (n.5798+538G>C) c.5858+538G>C (n.5858+538G>C) c.5850G>C (p.Leu1950Phe) | |
| 2 | g.26460109C>T | CA425206546 | OTOF | c.5910G>A (p.Leu1970=) c.3512+538G>A (n.3512+538G>A) c.3669G>A (p.Leu1223=) c.3609G>A (p.Leu1203=) c.3840G>A (p.Leu1280=) c.5813+538G>A (n.5813+538G>A) c.5798+538G>A (n.5798+538G>A) c.5858+538G>A (n.5858+538G>A) c.5850G>A (p.Leu1950=) | |
| 2 | g.26460110A>C | CA346127627 | OTOF | c.5909T>G (p.Leu1970Trp) c.3512+537T>G (n.3512+537T>G) c.3668T>G (p.Leu1223Trp) c.3608T>G (p.Leu1203Trp) c.3839T>G (p.Leu1280Trp) c.5813+537T>G (n.5813+537T>G) c.5798+537T>G (n.5798+537T>G) c.5858+537T>G (n.5858+537T>G) c.5849T>G (p.Leu1950Trp) | |
| 2 | g.26460110A>G | CA346127628 | OTOF | c.5909T>C (p.Leu1970Ser) c.3512+537T>C (n.3512+537T>C) c.3668T>C (p.Leu1223Ser) c.3608T>C (p.Leu1203Ser) c.3839T>C (p.Leu1280Ser) c.5813+537T>C (n.5813+537T>C) c.5798+537T>C (n.5798+537T>C) c.5858+537T>C (n.5858+537T>C) c.5849T>C (p.Leu1950Ser) | |
| 2 | g.26460110A>T | CA346127629 | OTOF | c.5909T>A (p.Leu1970Ter) c.3512+537T>A (n.3512+537T>A) c.3668T>A (p.Leu1223Ter) c.3608T>A (p.Leu1203Ter) c.3839T>A (p.Leu1280Ter) c.5813+537T>A (n.5813+537T>A) c.5798+537T>A (n.5798+537T>A) c.5858+537T>A (n.5858+537T>A) c.5849T>A (p.Leu1950Ter) | |
| 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.26460111A>C | CA346127632 | OTOF | c.5908T>G (p.Leu1970Val) c.3512+536T>G (n.3512+536T>G) c.3667T>G (p.Leu1223Val) c.3607T>G (p.Leu1203Val) c.3838T>G (p.Leu1280Val) c.5813+536T>G (n.5813+536T>G) c.5798+536T>G (n.5798+536T>G) c.5858+536T>G (n.5858+536T>G) c.5848T>G (p.Leu1950Val) | |
| 2 | g.26460111A>G | CA425206547 | OTOF | c.5908T>C (p.Leu1970=) c.3512+536T>C (n.3512+536T>C) c.3667T>C (p.Leu1223=) c.3607T>C (p.Leu1203=) c.3838T>C (p.Leu1280=) c.5813+536T>C (n.5813+536T>C) c.5798+536T>C (n.5798+536T>C) c.5858+536T>C (n.5858+536T>C) c.5848T>C (p.Leu1950=) | gnomAD v4 |
| 2 | g.26460111A>T | CA346127633 | OTOF | c.5908T>A (p.Leu1970Met) c.3512+536T>A (n.3512+536T>A) c.3667T>A (p.Leu1223Met) c.3607T>A (p.Leu1203Met) c.3838T>A (p.Leu1280Met) c.5813+536T>A (n.5813+536T>A) c.5798+536T>A (n.5798+536T>A) c.5858+536T>A (n.5858+536T>A) c.5848T>A (p.Leu1950Met) | |
| 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=) |