Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26460039T>A | CA346127343 | OTOF | c.5980A>T (p.Ile1994Phe) c.3512+608A>T (n.3512+608A>T) c.3739A>T (p.Ile1247Phe) c.3679A>T (p.Ile1227Phe) c.3910A>T (p.Ile1304Phe) c.5813+608A>T (n.5813+608A>T) c.5798+608A>T (n.5798+608A>T) c.5858+608A>T (n.5858+608A>T) c.5920A>T (p.Ile1974Phe) | |
2 | g.26460039T>C | CA346127347 | OTOF | c.5980A>G (p.Ile1994Val) c.3512+608A>G (n.3512+608A>G) c.3739A>G (p.Ile1247Val) c.3679A>G (p.Ile1227Val) c.3910A>G (p.Ile1304Val) c.5813+608A>G (n.5813+608A>G) c.5798+608A>G (n.5798+608A>G) c.5858+608A>G (n.5858+608A>G) c.5920A>G (p.Ile1974Val) | gnomAD v4 |
2 | g.26460039T>G | CA346127349 | OTOF | c.5980A>C (p.Ile1994Leu) c.3512+608A>C (n.3512+608A>C) c.3739A>C (p.Ile1247Leu) c.3679A>C (p.Ile1227Leu) c.3910A>C (p.Ile1304Leu) c.5813+608A>C (n.5813+608A>C) c.5798+608A>C (n.5798+608A>C) c.5858+608A>C (n.5858+608A>C) c.5920A>C (p.Ile1974Leu) | |
2 | g.26460040T>A | CA346127351 | OTOF | c.5979A>T (p.Lys1993Asn) c.3512+607A>T (n.3512+607A>T) c.3738A>T (p.Lys1246Asn) c.3678A>T (p.Lys1226Asn) c.3909A>T (p.Lys1303Asn) c.5813+607A>T (n.5813+607A>T) c.5798+607A>T (n.5798+607A>T) c.5858+607A>T (n.5858+607A>T) c.5919A>T (p.Lys1973Asn) | gnomAD v4 |
2 | g.26460040T>C | CA425206442 | OTOF | c.5979A>G (p.Lys1993=) c.3512+607A>G (n.3512+607A>G) c.3738A>G (p.Lys1246=) c.3678A>G (p.Lys1226=) c.3909A>G (p.Lys1303=) c.5813+607A>G (n.5813+607A>G) c.5798+607A>G (n.5798+607A>G) c.5858+607A>G (n.5858+607A>G) c.5919A>G (p.Lys1973=) | |
2 | g.26460040T>G | CA346127355 | OTOF | c.5979A>C (p.Lys1993Asn) c.3512+607A>C (n.3512+607A>C) c.3738A>C (p.Lys1246Asn) c.3678A>C (p.Lys1226Asn) c.3909A>C (p.Lys1303Asn) c.5813+607A>C (n.5813+607A>C) c.5798+607A>C (n.5798+607A>C) c.5858+607A>C (n.5858+607A>C) c.5919A>C (p.Lys1973Asn) | |
2 | g.26460041T>A | CA346127356 | OTOF | c.5978A>T (p.Lys1993Ile) c.3512+606A>T (n.3512+606A>T) c.3737A>T (p.Lys1246Ile) c.3677A>T (p.Lys1226Ile) c.3908A>T (p.Lys1303Ile) c.5813+606A>T (n.5813+606A>T) c.5798+606A>T (n.5798+606A>T) c.5858+606A>T (n.5858+606A>T) c.5918A>T (p.Lys1973Ile) | gnomAD v4 |
2 | g.26460041T>C | CA346127358 | OTOF | c.5978A>G (p.Lys1993Arg) c.3512+606A>G (n.3512+606A>G) c.3737A>G (p.Lys1246Arg) c.3677A>G (p.Lys1226Arg) c.3908A>G (p.Lys1303Arg) c.5813+606A>G (n.5813+606A>G) c.5798+606A>G (n.5798+606A>G) c.5858+606A>G (n.5858+606A>G) c.5918A>G (p.Lys1973Arg) | |
2 | g.26460041T>G | CA346127359 | OTOF | c.5978A>C (p.Lys1993Thr) c.3512+606A>C (n.3512+606A>C) c.3737A>C (p.Lys1246Thr) c.3677A>C (p.Lys1226Thr) c.3908A>C (p.Lys1303Thr) c.5813+606A>C (n.5813+606A>C) c.5798+606A>C (n.5798+606A>C) c.5858+606A>C (n.5858+606A>C) c.5918A>C (p.Lys1973Thr) | |
2 | g.26460042T>A | CA346127360 | OTOF | c.5977A>T (p.Lys1993Ter) c.3512+605A>T (n.3512+605A>T) c.3736A>T (p.Lys1246Ter) c.3676A>T (p.Lys1226Ter) c.3907A>T (p.Lys1303Ter) c.5813+605A>T (n.5813+605A>T) c.5798+605A>T (n.5798+605A>T) c.5858+605A>T (n.5858+605A>T) c.5917A>T (p.Lys1973Ter) | |
2 | g.26460042T>C | CA346127361 | OTOF | c.5977A>G (p.Lys1993Glu) c.3512+605A>G (n.3512+605A>G) c.3736A>G (p.Lys1246Glu) c.3676A>G (p.Lys1226Glu) c.3907A>G (p.Lys1303Glu) c.5813+605A>G (n.5813+605A>G) c.5798+605A>G (n.5798+605A>G) c.5858+605A>G (n.5858+605A>G) c.5917A>G (p.Lys1973Glu) | gnomAD v4 |
2 | g.26460042T>G | CA346127362 | OTOF | c.5977A>C (p.Lys1993Gln) c.3512+605A>C (n.3512+605A>C) c.3736A>C (p.Lys1246Gln) c.3676A>C (p.Lys1226Gln) c.3907A>C (p.Lys1303Gln) c.5813+605A>C (n.5813+605A>C) c.5798+605A>C (n.5798+605A>C) c.5858+605A>C (n.5858+605A>C) c.5917A>C (p.Lys1973Gln) | |
2 | g.26460043C>A | CA346127365 | OTOF | c.5976G>T (p.Lys1992Asn) c.3512+604G>T (n.3512+604G>T) c.3735G>T (p.Lys1245Asn) c.3675G>T (p.Lys1225Asn) c.3906G>T (p.Lys1302Asn) c.5813+604G>T (n.5813+604G>T) c.5798+604G>T (n.5798+604G>T) c.5858+604G>T (n.5858+604G>T) c.5916G>T (p.Lys1972Asn) | gnomAD v4 |
2 | g.26460043C= | CA1239823974 | OTOF | c.5976G= (p.Lys1992=) c.3512+604G= (n.3512+604G=) c.3735G= (p.Lys1245=) c.3675G= (p.Lys1225=) c.3906G= (p.Lys1302=) c.5813+604G= (n.5813+604G=) c.5798+604G= (n.5798+604G=) c.5858+604G= (n.5858+604G=) c.5916G= (p.Lys1972=) | |
2 | g.26460043C>G | CA346127372 | OTOF | c.5976G>C (p.Lys1992Asn) c.3512+604G>C (n.3512+604G>C) c.3735G>C (p.Lys1245Asn) c.3675G>C (p.Lys1225Asn) c.3906G>C (p.Lys1302Asn) c.5813+604G>C (n.5813+604G>C) c.5798+604G>C (n.5798+604G>C) c.5858+604G>C (n.5858+604G>C) c.5916G>C (p.Lys1972Asn) | |
2 | g.26460043C>T | CA425206445 | OTOF | c.5976G>A (p.Lys1992=) c.3512+604G>A (n.3512+604G>A) c.3735G>A (p.Lys1245=) c.3675G>A (p.Lys1225=) c.3906G>A (p.Lys1302=) c.5813+604G>A (n.5813+604G>A) c.5798+604G>A (n.5798+604G>A) c.5858+604G>A (n.5858+604G>A) c.5916G>A (p.Lys1972=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460044T>A | CA346127383 | OTOF | c.5975A>T (p.Lys1992Met) c.3512+603A>T (n.3512+603A>T) c.3734A>T (p.Lys1245Met) c.3674A>T (p.Lys1225Met) c.3905A>T (p.Lys1302Met) c.5813+603A>T (n.5813+603A>T) c.5798+603A>T (n.5798+603A>T) c.5858+603A>T (n.5858+603A>T) c.5915A>T (p.Lys1972Met) | |
2 | g.26460044T>C | CA346127377 | OTOF | c.5975A>G (p.Lys1992Arg) c.3512+603A>G (n.3512+603A>G) c.3734A>G (p.Lys1245Arg) c.3674A>G (p.Lys1225Arg) c.3905A>G (p.Lys1302Arg) c.5813+603A>G (n.5813+603A>G) c.5798+603A>G (n.5798+603A>G) c.5858+603A>G (n.5858+603A>G) c.5915A>G (p.Lys1972Arg) | gnomAD v4 |
2 | g.26460044T>G | CA346127374 | OTOF | c.5975A>C (p.Lys1992Thr) c.3512+603A>C (n.3512+603A>C) c.3734A>C (p.Lys1245Thr) c.3674A>C (p.Lys1225Thr) c.3905A>C (p.Lys1302Thr) c.5813+603A>C (n.5813+603A>C) c.5798+603A>C (n.5798+603A>C) c.5858+603A>C (n.5858+603A>C) c.5915A>C (p.Lys1972Thr) | |
2 | g.26460045T>A | CA346127393 | OTOF | c.5974A>T (p.Lys1992Ter) c.3512+602A>T (n.3512+602A>T) c.3733A>T (p.Lys1245Ter) c.3673A>T (p.Lys1225Ter) c.3904A>T (p.Lys1302Ter) c.5813+602A>T (n.5813+602A>T) c.5798+602A>T (n.5798+602A>T) c.5858+602A>T (n.5858+602A>T) c.5914A>T (p.Lys1972Ter) | |
2 | g.26460045T>C | CA346127395 | OTOF | c.5974A>G (p.Lys1992Glu) c.3512+602A>G (n.3512+602A>G) c.3733A>G (p.Lys1245Glu) c.3673A>G (p.Lys1225Glu) c.3904A>G (p.Lys1302Glu) c.5813+602A>G (n.5813+602A>G) c.5798+602A>G (n.5798+602A>G) c.5858+602A>G (n.5858+602A>G) c.5914A>G (p.Lys1972Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460045T>G | CA346127397 | OTOF | c.5974A>C (p.Lys1992Gln) c.3512+602A>C (n.3512+602A>C) c.3733A>C (p.Lys1245Gln) c.3673A>C (p.Lys1225Gln) c.3904A>C (p.Lys1302Gln) c.5813+602A>C (n.5813+602A>C) c.5798+602A>C (n.5798+602A>C) c.5858+602A>C (n.5858+602A>C) c.5914A>C (p.Lys1972Gln) | |
2 | g.26460045T= | CA1239823975 | OTOF | c.5974A= (p.Lys1992=) c.3512+602A= (n.3512+602A=) c.3733A= (p.Lys1245=) c.3673A= (p.Lys1225=) c.3904A= (p.Lys1302=) c.5813+602A= (n.5813+602A=) c.5798+602A= (n.5798+602A=) c.5858+602A= (n.5858+602A=) c.5914A= (p.Lys1972=) | |
2 | g.26460046G>A | CA425206448 | OTOF | c.5973C>T (p.Val1991=) c.3512+601C>T (n.3512+601C>T) c.3732C>T (p.Val1244=) c.3672C>T (p.Val1224=) c.3903C>T (p.Val1301=) c.5813+601C>T (n.5813+601C>T) c.5798+601C>T (n.5798+601C>T) c.5858+601C>T (n.5858+601C>T) c.5913C>T (p.Val1971=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460046G>C | CA425206449 | OTOF | c.5973C>G (p.Val1991=) c.3512+601C>G (n.3512+601C>G) c.3732C>G (p.Val1244=) c.3672C>G (p.Val1224=) c.3903C>G (p.Val1301=) c.5813+601C>G (n.5813+601C>G) c.5798+601C>G (n.5798+601C>G) c.5858+601C>G (n.5858+601C>G) c.5913C>G (p.Val1971=) | |
2 | g.26460046G= | CA1239823976 | OTOF | c.5973C= (p.Val1991=) c.3512+601C= (n.3512+601C=) c.3732C= (p.Val1244=) c.3672C= (p.Val1224=) c.3903C= (p.Val1301=) c.5813+601C= (n.5813+601C=) c.5798+601C= (n.5798+601C=) c.5858+601C= (n.5858+601C=) c.5913C= (p.Val1971=) | |
2 | g.26460046G>T | CA425206450 | OTOF | c.5973C>A (p.Val1991=) c.3512+601C>A (n.3512+601C>A) c.3732C>A (p.Val1244=) c.3672C>A (p.Val1224=) c.3903C>A (p.Val1301=) c.5813+601C>A (n.5813+601C>A) c.5798+601C>A (n.5798+601C>A) c.5858+601C>A (n.5858+601C>A) c.5913C>A (p.Val1971=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460047A>C | CA346127398 | OTOF | c.5972T>G (p.Val1991Gly) c.3512+600T>G (n.3512+600T>G) c.3731T>G (p.Val1244Gly) c.3671T>G (p.Val1224Gly) c.3902T>G (p.Val1301Gly) c.5813+600T>G (n.5813+600T>G) c.5798+600T>G (n.5798+600T>G) c.5858+600T>G (n.5858+600T>G) c.5912T>G (p.Val1971Gly) | |
2 | g.26460047A>G | CA346127400 | OTOF | c.5972T>C (p.Val1991Ala) c.3512+600T>C (n.3512+600T>C) c.3731T>C (p.Val1244Ala) c.3671T>C (p.Val1224Ala) c.3902T>C (p.Val1301Ala) c.5813+600T>C (n.5813+600T>C) c.5798+600T>C (n.5798+600T>C) c.5858+600T>C (n.5858+600T>C) c.5912T>C (p.Val1971Ala) | |
2 | g.26460047A>T | CA346127401 | OTOF | c.5972T>A (p.Val1991Asp) c.3512+600T>A (n.3512+600T>A) c.3731T>A (p.Val1244Asp) c.3671T>A (p.Val1224Asp) c.3902T>A (p.Val1301Asp) c.5813+600T>A (n.5813+600T>A) c.5798+600T>A (n.5798+600T>A) c.5858+600T>A (n.5858+600T>A) c.5912T>A (p.Val1971Asp) | |
2 | g.26460048C>A | CA346127402 | OTOF | c.5971G>T (p.Val1991Phe) c.3512+599G>T (n.3512+599G>T) c.3730G>T (p.Val1244Phe) c.3670G>T (p.Val1224Phe) c.3901G>T (p.Val1301Phe) c.5813+599G>T (n.5813+599G>T) c.5798+599G>T (n.5798+599G>T) c.5858+599G>T (n.5858+599G>T) c.5911G>T (p.Val1971Phe) | gnomAD v4 |
2 | g.26460048C>G | CA346127403 | OTOF | c.5971G>C (p.Val1991Leu) c.3512+599G>C (n.3512+599G>C) c.3730G>C (p.Val1244Leu) c.3670G>C (p.Val1224Leu) c.3901G>C (p.Val1301Leu) c.5813+599G>C (n.5813+599G>C) c.5798+599G>C (n.5798+599G>C) c.5858+599G>C (n.5858+599G>C) c.5911G>C (p.Val1971Leu) | |
2 | g.26460048C>T | CA346127404 | OTOF | c.5971G>A (p.Val1991Ile) c.3512+599G>A (n.3512+599G>A) c.3730G>A (p.Val1244Ile) c.3670G>A (p.Val1224Ile) c.3901G>A (p.Val1301Ile) c.5813+599G>A (n.5813+599G>A) c.5798+599G>A (n.5798+599G>A) c.5858+599G>A (n.5858+599G>A) c.5911G>A (p.Val1971Ile) | gnomAD v4 |
2 | g.26460049del | CA2749240267 | OTOF | c.5971del (p.Val1991SerfsTer?) c.3512+599del (n.3512+599del) c.3730del (p.Val1244SerfsTer?) c.3670del (p.Val1224SerfsTer?) c.3901del (p.Val1301SerfsTer?) c.5813+599del (n.5813+599del) c.5798+599del (n.5798+599del) c.5858+599del (n.5858+599del) c.5911del (p.Val1971SerfsTer?) | |
2 | g.26460049C>A | CA425206451 | OTOF | c.5970G>T (p.Leu1990=) c.3512+598G>T (n.3512+598G>T) c.3729G>T (p.Leu1243=) c.3669G>T (p.Leu1223=) c.3900G>T (p.Leu1300=) c.5813+598G>T (n.5813+598G>T) c.5798+598G>T (n.5798+598G>T) c.5858+598G>T (n.5858+598G>T) c.5910G>T (p.Leu1970=) | gnomAD v4 |
2 | g.26460049C>G | CA425206452 | OTOF | c.5970G>C (p.Leu1990=) c.3512+598G>C (n.3512+598G>C) c.3729G>C (p.Leu1243=) c.3669G>C (p.Leu1223=) c.3900G>C (p.Leu1300=) c.5813+598G>C (n.5813+598G>C) c.5798+598G>C (n.5798+598G>C) c.5858+598G>C (n.5858+598G>C) c.5910G>C (p.Leu1970=) | gnomAD v4 |
2 | g.26460049C>T | CA425206453 | OTOF | c.5970G>A (p.Leu1990=) c.3512+598G>A (n.3512+598G>A) c.3729G>A (p.Leu1243=) c.3669G>A (p.Leu1223=) c.3900G>A (p.Leu1300=) c.5813+598G>A (n.5813+598G>A) c.5798+598G>A (n.5798+598G>A) c.5858+598G>A (n.5858+598G>A) c.5910G>A (p.Leu1970=) | ClinVar gnomAD v4 |
2 | g.26460050A>C | CA346127406 | OTOF | c.5969T>G (p.Leu1990Arg) c.3512+597T>G (n.3512+597T>G) c.3728T>G (p.Leu1243Arg) c.3668T>G (p.Leu1223Arg) c.3899T>G (p.Leu1300Arg) c.5813+597T>G (n.5813+597T>G) c.5798+597T>G (n.5798+597T>G) c.5858+597T>G (n.5858+597T>G) c.5909T>G (p.Leu1970Arg) | |
2 | g.26460050A>G | CA346127407 | OTOF | c.5969T>C (p.Leu1990Pro) c.3512+597T>C (n.3512+597T>C) c.3728T>C (p.Leu1243Pro) c.3668T>C (p.Leu1223Pro) c.3899T>C (p.Leu1300Pro) c.5813+597T>C (n.5813+597T>C) c.5798+597T>C (n.5798+597T>C) c.5858+597T>C (n.5858+597T>C) c.5909T>C (p.Leu1970Pro) | gnomAD v4 |
2 | g.26460050A>T | CA346127409 | OTOF | c.5969T>A (p.Leu1990Gln) c.3512+597T>A (n.3512+597T>A) c.3728T>A (p.Leu1243Gln) c.3668T>A (p.Leu1223Gln) c.3899T>A (p.Leu1300Gln) c.5813+597T>A (n.5813+597T>A) c.5798+597T>A (n.5798+597T>A) c.5858+597T>A (n.5858+597T>A) c.5909T>A (p.Leu1970Gln) | gnomAD v4 |
2 | g.26460051G>A | CA425206456 | OTOF | c.5968C>T (p.Leu1990=) c.3512+596C>T (n.3512+596C>T) c.3727C>T (p.Leu1243=) c.3667C>T (p.Leu1223=) c.3898C>T (p.Leu1300=) c.5813+596C>T (n.5813+596C>T) c.5798+596C>T (n.5798+596C>T) c.5858+596C>T (n.5858+596C>T) c.5908C>T (p.Leu1970=) | |
2 | g.26460051G>C | CA346127412 | OTOF | c.5968C>G (p.Leu1990Val) c.3512+596C>G (n.3512+596C>G) c.3727C>G (p.Leu1243Val) c.3667C>G (p.Leu1223Val) c.3898C>G (p.Leu1300Val) c.5813+596C>G (n.5813+596C>G) c.5798+596C>G (n.5798+596C>G) c.5858+596C>G (n.5858+596C>G) c.5908C>G (p.Leu1970Val) | |
2 | g.26460051G>T | CA346127413 | OTOF | c.5968C>A (p.Leu1990Met) c.3512+596C>A (n.3512+596C>A) c.3727C>A (p.Leu1243Met) c.3667C>A (p.Leu1223Met) c.3898C>A (p.Leu1300Met) c.5813+596C>A (n.5813+596C>A) c.5798+596C>A (n.5798+596C>A) c.5858+596C>A (n.5858+596C>A) c.5908C>A (p.Leu1970Met) | gnomAD v4 |
2 | g.26460052G>A | CA425206461 | OTOF | c.5967C>T (p.Tyr1989=) c.3512+595C>T (n.3512+595C>T) c.3726C>T (p.Tyr1242=) c.3666C>T (p.Tyr1222=) c.3897C>T (p.Tyr1299=) c.5813+595C>T (n.5813+595C>T) c.5798+595C>T (n.5798+595C>T) c.5858+595C>T (n.5858+595C>T) c.5907C>T (p.Tyr1969=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460052G>C | CA346127415 | OTOF | c.5967C>G (p.Tyr1989Ter) c.3512+595C>G (n.3512+595C>G) c.3726C>G (p.Tyr1242Ter) c.3666C>G (p.Tyr1222Ter) c.3897C>G (p.Tyr1299Ter) c.5813+595C>G (n.5813+595C>G) c.5798+595C>G (n.5798+595C>G) c.5858+595C>G (n.5858+595C>G) c.5907C>G (p.Tyr1969Ter) | |
2 | g.26460052G= | CA1239823978 | OTOF | c.5967C= (p.Tyr1989=) c.3512+595C= (n.3512+595C=) c.3726C= (p.Tyr1242=) c.3666C= (p.Tyr1222=) c.3897C= (p.Tyr1299=) c.5813+595C= (n.5813+595C=) c.5798+595C= (n.5798+595C=) c.5858+595C= (n.5858+595C=) c.5907C= (p.Tyr1969=) | |
2 | g.26460052G>T | CA346127416 | OTOF | c.5967C>A (p.Tyr1989Ter) c.3512+595C>A (n.3512+595C>A) c.3726C>A (p.Tyr1242Ter) c.3666C>A (p.Tyr1222Ter) c.3897C>A (p.Tyr1299Ter) c.5813+595C>A (n.5813+595C>A) c.5798+595C>A (n.5798+595C>A) c.5858+595C>A (n.5858+595C>A) c.5907C>A (p.Tyr1969Ter) | |
2 | g.26460053T>A | CA346127417 | OTOF | c.5966A>T (p.Tyr1989Phe) c.3512+594A>T (n.3512+594A>T) c.3725A>T (p.Tyr1242Phe) c.3665A>T (p.Tyr1222Phe) c.3896A>T (p.Tyr1299Phe) c.5813+594A>T (n.5813+594A>T) c.5798+594A>T (n.5798+594A>T) c.5858+594A>T (n.5858+594A>T) c.5906A>T (p.Tyr1969Phe) | |
2 | g.26460053T>C | CA346127423 | OTOF | c.5966A>G (p.Tyr1989Cys) c.3512+594A>G (n.3512+594A>G) c.3725A>G (p.Tyr1242Cys) c.3665A>G (p.Tyr1222Cys) c.3896A>G (p.Tyr1299Cys) c.5813+594A>G (n.5813+594A>G) c.5798+594A>G (n.5798+594A>G) c.5858+594A>G (n.5858+594A>G) c.5906A>G (p.Tyr1969Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460053T>G | CA346127419 | OTOF | c.5966A>C (p.Tyr1989Ser) c.3512+594A>C (n.3512+594A>C) c.3725A>C (p.Tyr1242Ser) c.3665A>C (p.Tyr1222Ser) c.3896A>C (p.Tyr1299Ser) c.5813+594A>C (n.5813+594A>C) c.5798+594A>C (n.5798+594A>C) c.5858+594A>C (n.5858+594A>C) c.5906A>C (p.Tyr1969Ser) | |
2 | g.26460053T= | CA1239823981 | OTOF | c.5966A= (p.Tyr1989=) c.3512+594A= (n.3512+594A=) c.3725A= (p.Tyr1242=) c.3665A= (p.Tyr1222=) c.3896A= (p.Tyr1299=) c.5813+594A= (n.5813+594A=) c.5798+594A= (n.5798+594A=) c.5858+594A= (n.5858+594A=) c.5906A= (p.Tyr1969=) | |
2 | g.26460054A>C | CA346127425 | OTOF | c.5965T>G (p.Tyr1989Asp) c.3512+593T>G (n.3512+593T>G) c.3724T>G (p.Tyr1242Asp) c.3664T>G (p.Tyr1222Asp) c.3895T>G (p.Tyr1299Asp) c.5813+593T>G (n.5813+593T>G) c.5798+593T>G (n.5798+593T>G) c.5858+593T>G (n.5858+593T>G) c.5905T>G (p.Tyr1969Asp) | |
2 | g.26460054A>G | CA346127426 | OTOF | c.5965T>C (p.Tyr1989His) c.3512+593T>C (n.3512+593T>C) c.3724T>C (p.Tyr1242His) c.3664T>C (p.Tyr1222His) c.3895T>C (p.Tyr1299His) c.5813+593T>C (n.5813+593T>C) c.5798+593T>C (n.5798+593T>C) c.5858+593T>C (n.5858+593T>C) c.5905T>C (p.Tyr1969His) | gnomAD v4 |
2 | g.26460054A>T | CA346127430 | OTOF | c.5965T>A (p.Tyr1989Asn) c.3512+593T>A (n.3512+593T>A) c.3724T>A (p.Tyr1242Asn) c.3664T>A (p.Tyr1222Asn) c.3895T>A (p.Tyr1299Asn) c.5813+593T>A (n.5813+593T>A) c.5798+593T>A (n.5798+593T>A) c.5858+593T>A (n.5858+593T>A) c.5905T>A (p.Tyr1969Asn) | |
2 | g.26460055G>A | CA425206462 | OTOF | c.5964C>T (p.Gly1988=) c.3512+592C>T (n.3512+592C>T) c.3723C>T (p.Gly1241=) c.3663C>T (p.Gly1221=) c.3894C>T (p.Gly1298=) c.5813+592C>T (n.5813+592C>T) c.5798+592C>T (n.5798+592C>T) c.5858+592C>T (n.5858+592C>T) c.5904C>T (p.Gly1968=) | |
2 | g.26460055G>C | CA425206463 | OTOF | c.5964C>G (p.Gly1988=) c.3512+592C>G (n.3512+592C>G) c.3723C>G (p.Gly1241=) c.3663C>G (p.Gly1221=) c.3894C>G (p.Gly1298=) c.5813+592C>G (n.5813+592C>G) c.5798+592C>G (n.5798+592C>G) c.5858+592C>G (n.5858+592C>G) c.5904C>G (p.Gly1968=) | gnomAD v4 |
2 | g.26460055G>T | CA425206464 | OTOF | c.5964C>A (p.Gly1988=) c.3512+592C>A (n.3512+592C>A) c.3723C>A (p.Gly1241=) c.3663C>A (p.Gly1221=) c.3894C>A (p.Gly1298=) c.5813+592C>A (n.5813+592C>A) c.5798+592C>A (n.5798+592C>A) c.5858+592C>A (n.5858+592C>A) c.5904C>A (p.Gly1968=) | gnomAD v4 |
2 | g.26460056C>A | CA346127431 | OTOF | c.5963G>T (p.Gly1988Val) c.3512+591G>T (n.3512+591G>T) c.3722G>T (p.Gly1241Val) c.3662G>T (p.Gly1221Val) c.3893G>T (p.Gly1298Val) c.5813+591G>T (n.5813+591G>T) c.5798+591G>T (n.5798+591G>T) c.5858+591G>T (n.5858+591G>T) c.5903G>T (p.Gly1968Val) | |
2 | g.26460056C>G | CA346127432 | OTOF | c.5963G>C (p.Gly1988Ala) c.3512+591G>C (n.3512+591G>C) c.3722G>C (p.Gly1241Ala) c.3662G>C (p.Gly1221Ala) c.3893G>C (p.Gly1298Ala) c.5813+591G>C (n.5813+591G>C) c.5798+591G>C (n.5798+591G>C) c.5858+591G>C (n.5858+591G>C) c.5903G>C (p.Gly1968Ala) | |
2 | g.26460056C>T | CA346127434 | OTOF | c.5963G>A (p.Gly1988Asp) c.3512+591G>A (n.3512+591G>A) c.3722G>A (p.Gly1241Asp) c.3662G>A (p.Gly1221Asp) c.3893G>A (p.Gly1298Asp) c.5813+591G>A (n.5813+591G>A) c.5798+591G>A (n.5798+591G>A) c.5858+591G>A (n.5858+591G>A) c.5903G>A (p.Gly1968Asp) | gnomAD v4 |
2 | g.26460057C>A | CA346127436 | OTOF | c.5962G>T (p.Gly1988Cys) c.3512+590G>T (n.3512+590G>T) c.3721G>T (p.Gly1241Cys) c.3661G>T (p.Gly1221Cys) c.3892G>T (p.Gly1298Cys) c.5813+590G>T (n.5813+590G>T) c.5798+590G>T (n.5798+590G>T) c.5858+590G>T (n.5858+590G>T) c.5902G>T (p.Gly1968Cys) | gnomAD v4 |
2 | g.26460057C= | CA1239823983 | OTOF | c.5962G= (p.Gly1988=) c.3512+590G= (n.3512+590G=) c.3721G= (p.Gly1241=) c.3661G= (p.Gly1221=) c.3892G= (p.Gly1298=) c.5813+590G= (n.5813+590G=) c.5798+590G= (n.5798+590G=) c.5858+590G= (n.5858+590G=) c.5902G= (p.Gly1968=) | |
2 | g.26460057C>G | CA346127437 | OTOF | c.5962G>C (p.Gly1988Arg) c.3512+590G>C (n.3512+590G>C) c.3721G>C (p.Gly1241Arg) c.3661G>C (p.Gly1221Arg) c.3892G>C (p.Gly1298Arg) c.5813+590G>C (n.5813+590G>C) c.5798+590G>C (n.5798+590G>C) c.5858+590G>C (n.5858+590G>C) c.5902G>C (p.Gly1968Arg) | |
2 | g.26460057C>T | CA346127439 | OTOF | c.5962G>A (p.Gly1988Ser) c.3512+590G>A (n.3512+590G>A) c.3721G>A (p.Gly1241Ser) c.3661G>A (p.Gly1221Ser) c.3892G>A (p.Gly1298Ser) c.5813+590G>A (n.5813+590G>A) c.5798+590G>A (n.5798+590G>A) c.5858+590G>A (n.5858+590G>A) c.5902G>A (p.Gly1968Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460058A>C | CA425206469 | OTOF | c.5961T>G (p.Pro1987=) c.3512+589T>G (n.3512+589T>G) c.3720T>G (p.Pro1240=) c.3660T>G (p.Pro1220=) c.3891T>G (p.Pro1297=) c.5813+589T>G (n.5813+589T>G) c.5798+589T>G (n.5798+589T>G) c.5858+589T>G (n.5858+589T>G) c.5901T>G (p.Pro1967=) | |
2 | g.26460058A>G | CA425206471 | OTOF | c.5961T>C (p.Pro1987=) c.3512+589T>C (n.3512+589T>C) c.3720T>C (p.Pro1240=) c.3660T>C (p.Pro1220=) c.3891T>C (p.Pro1297=) c.5813+589T>C (n.5813+589T>C) c.5798+589T>C (n.5798+589T>C) c.5858+589T>C (n.5858+589T>C) c.5901T>C (p.Pro1967=) | gnomAD v4 |
2 | g.26460058A>T | CA425206470 | OTOF | c.5961T>A (p.Pro1987=) c.3512+589T>A (n.3512+589T>A) c.3720T>A (p.Pro1240=) c.3660T>A (p.Pro1220=) c.3891T>A (p.Pro1297=) c.5813+589T>A (n.5813+589T>A) c.5798+589T>A (n.5798+589T>A) c.5858+589T>A (n.5858+589T>A) c.5901T>A (p.Pro1967=) | |
2 | g.26460059G>A | CA346127440 | OTOF | c.5960C>T (p.Pro1987Leu) c.3512+588C>T (n.3512+588C>T) c.3719C>T (p.Pro1240Leu) c.3659C>T (p.Pro1220Leu) c.3890C>T (p.Pro1297Leu) c.5813+588C>T (n.5813+588C>T) c.5798+588C>T (n.5798+588C>T) c.5858+588C>T (n.5858+588C>T) c.5900C>T (p.Pro1967Leu) | |
2 | g.26460059G>C | CA342580 | OTOF | c.5960C>G (p.Pro1987Arg) c.3512+588C>G (n.3512+588C>G) c.3719C>G (p.Pro1240Arg) c.3659C>G (p.Pro1220Arg) c.3890C>G (p.Pro1297Arg) c.5813+588C>G (n.5813+588C>G) c.5798+588C>G (n.5798+588C>G) c.5858+588C>G (n.5858+588C>G) c.5900C>G (p.Pro1967Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.26460059G= | CA1239823986 | OTOF | c.5960C= (p.Pro1987=) c.3512+588C= (n.3512+588C=) c.3719C= (p.Pro1240=) c.3659C= (p.Pro1220=) c.3890C= (p.Pro1297=) c.5813+588C= (n.5813+588C=) c.5798+588C= (n.5798+588C=) c.5858+588C= (n.5858+588C=) c.5900C= (p.Pro1967=) | |
2 | g.26460059G>T | CA346127443 | OTOF | c.5960C>A (p.Pro1987His) c.3512+588C>A (n.3512+588C>A) c.3719C>A (p.Pro1240His) c.3659C>A (p.Pro1220His) c.3890C>A (p.Pro1297His) c.5813+588C>A (n.5813+588C>A) c.5798+588C>A (n.5798+588C>A) c.5858+588C>A (n.5858+588C>A) c.5900C>A (p.Pro1967His) | |
2 | g.26460060dup | CA2840398264 | OTOF | c.5960dup (p.Gly1988TrpfsTer?) c.3512+588dup (n.3512+588dup) c.3719dup (p.Gly1241TrpfsTer?) c.3659dup (p.Gly1221TrpfsTer?) c.3890dup (p.Gly1298TrpfsTer?) c.5813+588dup (n.5813+588dup) c.5798+588dup (n.5798+588dup) c.5858+588dup (n.5858+588dup) c.5900dup (p.Gly1968TrpfsTer?) | |
2 | g.26460060G>A | CA346127454 | OTOF | c.5959C>T (p.Pro1987Ser) c.3512+587C>T (n.3512+587C>T) c.3718C>T (p.Pro1240Ser) c.3658C>T (p.Pro1220Ser) c.3889C>T (p.Pro1297Ser) c.5813+587C>T (n.5813+587C>T) c.5798+587C>T (n.5798+587C>T) c.5858+587C>T (n.5858+587C>T) c.5899C>T (p.Pro1967Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26460060G>C | CA346127444 | OTOF | c.5959C>G (p.Pro1987Ala) c.3512+587C>G (n.3512+587C>G) c.3718C>G (p.Pro1240Ala) c.3658C>G (p.Pro1220Ala) c.3889C>G (p.Pro1297Ala) c.5813+587C>G (n.5813+587C>G) c.5798+587C>G (n.5798+587C>G) c.5858+587C>G (n.5858+587C>G) c.5899C>G (p.Pro1967Ala) | |
2 | g.26460060G= | CA1239823988 | OTOF | c.5959C= (p.Pro1987=) c.3512+587C= (n.3512+587C=) c.3718C= (p.Pro1240=) c.3658C= (p.Pro1220=) c.3889C= (p.Pro1297=) c.5813+587C= (n.5813+587C=) c.5798+587C= (n.5798+587C=) c.5858+587C= (n.5858+587C=) c.5899C= (p.Pro1967=) | |
2 | g.26460060G>T | CA346127446 | OTOF | c.5959C>A (p.Pro1987Thr) c.3512+587C>A (n.3512+587C>A) c.3718C>A (p.Pro1240Thr) c.3658C>A (p.Pro1220Thr) c.3889C>A (p.Pro1297Thr) c.5813+587C>A (n.5813+587C>A) c.5798+587C>A (n.5798+587C>A) c.5858+587C>A (n.5858+587C>A) c.5899C>A (p.Pro1967Thr) | gnomAD v4 |
2 | g.26460060_26460062delinsGCA | CA1239823989 | OTOF | c.5957_5959delinsTGC (p.Val1986=) c.3512+585_3512+587delinsTGC (n.3512+585_3512+587delinsTGC) c.3716_3718delinsTGC (p.Val1239=) c.3656_3658delinsTGC (p.Val1219=) c.3887_3889delinsTGC (p.Val1296=) c.5813+585_5813+587delinsTGC (n.5813+585_5813+587delinsTGC) c.5798+585_5798+587delinsTGC (n.5798+585_5798+587delinsTGC) c.5858+585_5858+587delinsTGC (n.5858+585_5858+587delinsTGC) c.5897_5899delinsTGC (p.Val1966=) | |
2 | g.26460061C>A | CA425206474 | OTOF | c.5958G>T (p.Val1986=) c.3512+586G>T (n.3512+586G>T) c.3717G>T (p.Val1239=) c.3657G>T (p.Val1219=) c.3888G>T (p.Val1296=) c.5813+586G>T (n.5813+586G>T) c.5798+586G>T (n.5798+586G>T) c.5858+586G>T (n.5858+586G>T) c.5898G>T (p.Val1966=) | gnomAD v4 |
2 | g.26460061C>G | CA425206475 | OTOF | c.5958G>C (p.Val1986=) c.3512+586G>C (n.3512+586G>C) c.3717G>C (p.Val1239=) c.3657G>C (p.Val1219=) c.3888G>C (p.Val1296=) c.5813+586G>C (n.5813+586G>C) c.5798+586G>C (n.5798+586G>C) c.5858+586G>C (n.5858+586G>C) c.5898G>C (p.Val1966=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26460061C>T | CA425206477 | OTOF | c.5958G>A (p.Val1986=) c.3512+586G>A (n.3512+586G>A) c.3717G>A (p.Val1239=) c.3657G>A (p.Val1219=) c.3888G>A (p.Val1296=) c.5813+586G>A (n.5813+586G>A) c.5798+586G>A (n.5798+586G>A) c.5858+586G>A (n.5858+586G>A) c.5898G>A (p.Val1966=) | |
2 | g.26460063_26460064del | CA1028604312 | OTOF | c.5957_5958del (p.Val1986AlafsTer?) c.3512+585_3512+586del (n.3512+585_3512+586del) c.3716_3717del (p.Val1239AlafsTer?) c.3656_3657del (p.Val1219AlafsTer?) c.3887_3888del (p.Val1296AlafsTer?) c.5813+585_5813+586del (n.5813+585_5813+586del) c.5798+585_5798+586del (n.5798+585_5798+586del) c.5858+585_5858+586del (n.5858+585_5858+586del) c.5897_5898del (p.Val1966AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26460062A= | CA1239823991 | OTOF | c.5957T= (p.Val1986=) c.3512+585T= (n.3512+585T=) c.3716T= (p.Val1239=) c.3656T= (p.Val1219=) c.3887T= (p.Val1296=) c.5813+585T= (n.5813+585T=) c.5798+585T= (n.5798+585T=) c.5858+585T= (n.5858+585T=) c.5897T= (p.Val1966=) | |
2 | g.26460062A>C | CA346127456 | OTOF | c.5957T>G (p.Val1986Gly) c.3512+585T>G (n.3512+585T>G) c.3716T>G (p.Val1239Gly) c.3656T>G (p.Val1219Gly) c.3887T>G (p.Val1296Gly) c.5813+585T>G (n.5813+585T>G) c.5798+585T>G (n.5798+585T>G) c.5858+585T>G (n.5858+585T>G) c.5897T>G (p.Val1966Gly) | COSMIC COSMIC |
2 | g.26460062A>G | CA346127457 | OTOF | c.5957T>C (p.Val1986Ala) c.3512+585T>C (n.3512+585T>C) c.3716T>C (p.Val1239Ala) c.3656T>C (p.Val1219Ala) c.3887T>C (p.Val1296Ala) c.5813+585T>C (n.5813+585T>C) c.5798+585T>C (n.5798+585T>C) c.5858+585T>C (n.5858+585T>C) c.5897T>C (p.Val1966Ala) | dbSNP gnomAD v4 |
2 | g.26460062A>T | CA346127458 | OTOF | c.5957T>A (p.Val1986Glu) c.3512+585T>A (n.3512+585T>A) c.3716T>A (p.Val1239Glu) c.3656T>A (p.Val1219Glu) c.3887T>A (p.Val1296Glu) c.5813+585T>A (n.5813+585T>A) c.5798+585T>A (n.5798+585T>A) c.5858+585T>A (n.5858+585T>A) c.5897T>A (p.Val1966Glu) | |
2 | g.26460063C>A | CA346127460 | OTOF | c.5956G>T (p.Val1986Leu) c.3512+584G>T (n.3512+584G>T) c.3715G>T (p.Val1239Leu) c.3655G>T (p.Val1219Leu) c.3886G>T (p.Val1296Leu) c.5813+584G>T (n.5813+584G>T) c.5798+584G>T (n.5798+584G>T) c.5858+584G>T (n.5858+584G>T) c.5896G>T (p.Val1966Leu) | gnomAD v4 |
2 | g.26460063C= | CA1239823993 | OTOF | c.5956G= (p.Val1986=) c.3512+584G= (n.3512+584G=) c.3715G= (p.Val1239=) c.3655G= (p.Val1219=) c.3886G= (p.Val1296=) c.5813+584G= (n.5813+584G=) c.5798+584G= (n.5798+584G=) c.5858+584G= (n.5858+584G=) c.5896G= (p.Val1966=) | |
2 | g.26460063C>G | CA44406179 | OTOF | c.5956G>C (p.Val1986Leu) c.3512+584G>C (n.3512+584G>C) c.3715G>C (p.Val1239Leu) c.3655G>C (p.Val1219Leu) c.3886G>C (p.Val1296Leu) c.5813+584G>C (n.5813+584G>C) c.5798+584G>C (n.5798+584G>C) c.5858+584G>C (n.5858+584G>C) c.5896G>C (p.Val1966Leu) | dbSNP gnomAD v2 |
2 | g.26460063C>T | CA346127462 | OTOF | c.5956G>A (p.Val1986Met) c.3512+584G>A (n.3512+584G>A) c.3715G>A (p.Val1239Met) c.3655G>A (p.Val1219Met) c.3886G>A (p.Val1296Met) c.5813+584G>A (n.5813+584G>A) c.5798+584G>A (n.5798+584G>A) c.5858+584G>A (n.5858+584G>A) c.5896G>A (p.Val1966Met) | |
2 | g.26460064A>C | CA425206479 | OTOF | c.5955T>G (p.Ser1985=) c.3512+583T>G (n.3512+583T>G) c.3714T>G (p.Ser1238=) c.3654T>G (p.Ser1218=) c.3885T>G (p.Ser1295=) c.5813+583T>G (n.5813+583T>G) c.5798+583T>G (n.5798+583T>G) c.5858+583T>G (n.5858+583T>G) c.5895T>G (p.Ser1965=) | |
2 | g.26460064A>G | CA425206480 | OTOF | c.5955T>C (p.Ser1985=) c.3512+583T>C (n.3512+583T>C) c.3714T>C (p.Ser1238=) c.3654T>C (p.Ser1218=) c.3885T>C (p.Ser1295=) c.5813+583T>C (n.5813+583T>C) c.5798+583T>C (n.5798+583T>C) c.5858+583T>C (n.5858+583T>C) c.5895T>C (p.Ser1965=) | gnomAD v4 |
2 | g.26460064A>T | CA425206481 | OTOF | c.5955T>A (p.Ser1985=) c.3512+583T>A (n.3512+583T>A) c.3714T>A (p.Ser1238=) c.3654T>A (p.Ser1218=) c.3885T>A (p.Ser1295=) c.5813+583T>A (n.5813+583T>A) c.5798+583T>A (n.5798+583T>A) c.5858+583T>A (n.5858+583T>A) c.5895T>A (p.Ser1965=) | gnomAD v4 COSMIC COSMIC |
2 | g.26460065G>A | CA346127464 | OTOF | c.5954C>T (p.Ser1985Phe) c.3512+582C>T (n.3512+582C>T) c.3713C>T (p.Ser1238Phe) c.3653C>T (p.Ser1218Phe) c.3884C>T (p.Ser1295Phe) c.5813+582C>T (n.5813+582C>T) c.5798+582C>T (n.5798+582C>T) c.5858+582C>T (n.5858+582C>T) c.5894C>T (p.Ser1965Phe) | |
2 | g.26460065G>C | CA346127465 | OTOF | c.5954C>G (p.Ser1985Cys) c.3512+582C>G (n.3512+582C>G) c.3713C>G (p.Ser1238Cys) c.3653C>G (p.Ser1218Cys) c.3884C>G (p.Ser1295Cys) c.5813+582C>G (n.5813+582C>G) c.5798+582C>G (n.5798+582C>G) c.5858+582C>G (n.5858+582C>G) c.5894C>G (p.Ser1965Cys) | dbSNP |
2 | g.26460065G= | CA1239823994 | OTOF | c.5954C= (p.Ser1985=) c.3512+582C= (n.3512+582C=) c.3713C= (p.Ser1238=) c.3653C= (p.Ser1218=) c.3884C= (p.Ser1295=) c.5813+582C= (n.5813+582C=) c.5798+582C= (n.5798+582C=) c.5858+582C= (n.5858+582C=) c.5894C= (p.Ser1965=) | |
2 | g.26460065G>T | CA346127467 | OTOF | c.5954C>A (p.Ser1985Tyr) c.3512+582C>A (n.3512+582C>A) c.3713C>A (p.Ser1238Tyr) c.3653C>A (p.Ser1218Tyr) c.3884C>A (p.Ser1295Tyr) c.5813+582C>A (n.5813+582C>A) c.5798+582C>A (n.5798+582C>A) c.5858+582C>A (n.5858+582C>A) c.5894C>A (p.Ser1965Tyr) | gnomAD v4 |
2 | g.26460066A>C | CA346127469 | OTOF | c.5953T>G (p.Ser1985Ala) c.3512+581T>G (n.3512+581T>G) c.3712T>G (p.Ser1238Ala) c.3652T>G (p.Ser1218Ala) c.3883T>G (p.Ser1295Ala) c.5813+581T>G (n.5813+581T>G) c.5798+581T>G (n.5798+581T>G) c.5858+581T>G (n.5858+581T>G) c.5893T>G (p.Ser1965Ala) | |
2 | g.26460066A>G | CA346127471 | OTOF | c.5953T>C (p.Ser1985Pro) c.3512+581T>C (n.3512+581T>C) c.3712T>C (p.Ser1238Pro) c.3652T>C (p.Ser1218Pro) c.3883T>C (p.Ser1295Pro) c.5813+581T>C (n.5813+581T>C) c.5798+581T>C (n.5798+581T>C) c.5858+581T>C (n.5858+581T>C) c.5893T>C (p.Ser1965Pro) | gnomAD v4 |
2 | g.26460066A>T | CA346127472 | OTOF | c.5953T>A (p.Ser1985Thr) c.3512+581T>A (n.3512+581T>A) c.3712T>A (p.Ser1238Thr) c.3652T>A (p.Ser1218Thr) c.3883T>A (p.Ser1295Thr) c.5813+581T>A (n.5813+581T>A) c.5798+581T>A (n.5798+581T>A) c.5858+581T>A (n.5858+581T>A) c.5893T>A (p.Ser1965Thr) | |
2 | g.26460067G>A | CA425206485 | OTOF | c.5952C>T (p.Tyr1984=) c.3512+580C>T (n.3512+580C>T) c.3711C>T (p.Tyr1237=) c.3651C>T (p.Tyr1217=) c.3882C>T (p.Tyr1294=) c.5813+580C>T (n.5813+580C>T) c.5798+580C>T (n.5798+580C>T) c.5858+580C>T (n.5858+580C>T) c.5892C>T (p.Tyr1964=) | ClinVar gnomAD v4 |
2 | g.26460067G>C | CA346127473 | OTOF | c.5952C>G (p.Tyr1984Ter) c.3512+580C>G (n.3512+580C>G) c.3711C>G (p.Tyr1237Ter) c.3651C>G (p.Tyr1217Ter) c.3882C>G (p.Tyr1294Ter) c.5813+580C>G (n.5813+580C>G) c.5798+580C>G (n.5798+580C>G) c.5858+580C>G (n.5858+580C>G) c.5892C>G (p.Tyr1964Ter) | |
2 | g.26460067G>T | CA346127475 | OTOF | c.5952C>A (p.Tyr1984Ter) c.3512+580C>A (n.3512+580C>A) c.3711C>A (p.Tyr1237Ter) c.3651C>A (p.Tyr1217Ter) c.3882C>A (p.Tyr1294Ter) c.5813+580C>A (n.5813+580C>A) c.5798+580C>A (n.5798+580C>A) c.5858+580C>A (n.5858+580C>A) c.5892C>A (p.Tyr1964Ter) | gnomAD v4 |
2 | g.26460068T>A | CA346127477 | OTOF | c.5951A>T (p.Tyr1984Phe) c.3512+579A>T (n.3512+579A>T) c.3710A>T (p.Tyr1237Phe) c.3650A>T (p.Tyr1217Phe) c.3881A>T (p.Tyr1294Phe) c.5813+579A>T (n.5813+579A>T) c.5798+579A>T (n.5798+579A>T) c.5858+579A>T (n.5858+579A>T) c.5891A>T (p.Tyr1964Phe) | |
2 | g.26460068T>C | CA346127479 | OTOF | c.5951A>G (p.Tyr1984Cys) c.3512+579A>G (n.3512+579A>G) c.3710A>G (p.Tyr1237Cys) c.3650A>G (p.Tyr1217Cys) c.3881A>G (p.Tyr1294Cys) c.5813+579A>G (n.5813+579A>G) c.5798+579A>G (n.5798+579A>G) c.5858+579A>G (n.5858+579A>G) c.5891A>G (p.Tyr1964Cys) | |
2 | g.26460068T>G | CA346127480 | OTOF | c.5951A>C (p.Tyr1984Ser) c.3512+579A>C (n.3512+579A>C) c.3710A>C (p.Tyr1237Ser) c.3650A>C (p.Tyr1217Ser) c.3881A>C (p.Tyr1294Ser) c.5813+579A>C (n.5813+579A>C) c.5798+579A>C (n.5798+579A>C) c.5858+579A>C (n.5858+579A>C) c.5891A>C (p.Tyr1964Ser) | |
2 | g.26460069A>C | CA346127481 | OTOF | c.5950T>G (p.Tyr1984Asp) c.3512+578T>G (n.3512+578T>G) c.3709T>G (p.Tyr1237Asp) c.3649T>G (p.Tyr1217Asp) c.3880T>G (p.Tyr1294Asp) c.5813+578T>G (n.5813+578T>G) c.5798+578T>G (n.5798+578T>G) c.5858+578T>G (n.5858+578T>G) c.5890T>G (p.Tyr1964Asp) | |
2 | g.26460069A>G | CA346127483 | OTOF | c.5950T>C (p.Tyr1984His) c.3512+578T>C (n.3512+578T>C) c.3709T>C (p.Tyr1237His) c.3649T>C (p.Tyr1217His) c.3880T>C (p.Tyr1294His) c.5813+578T>C (n.5813+578T>C) c.5798+578T>C (n.5798+578T>C) c.5858+578T>C (n.5858+578T>C) c.5890T>C (p.Tyr1964His) | gnomAD v4 |
2 | g.26460069A>T | CA346127484 | OTOF | c.5950T>A (p.Tyr1984Asn) c.3512+578T>A (n.3512+578T>A) c.3709T>A (p.Tyr1237Asn) c.3649T>A (p.Tyr1217Asn) c.3880T>A (p.Tyr1294Asn) c.5813+578T>A (n.5813+578T>A) c.5798+578T>A (n.5798+578T>A) c.5858+578T>A (n.5858+578T>A) c.5890T>A (p.Tyr1964Asn) | |
2 | g.26460071_26460072del | CA2658232652 | OTOF | c.5949_5950del (p.Tyr1984LeufsTer?) c.3512+577_3512+578del (n.3512+577_3512+578del) c.3708_3709del (p.Tyr1237LeufsTer?) c.3648_3649del (p.Tyr1217LeufsTer?) c.3879_3880del (p.Tyr1294LeufsTer?) c.5813+577_5813+578del (n.5813+577_5813+578del) c.5798+577_5798+578del (n.5798+577_5798+578del) c.5858+577_5858+578del (n.5858+577_5858+578del) c.5889_5890del (p.Tyr1964LeufsTer?) | gnomAD v4 |
2 | g.26460070G>A | CA425206487 | OTOF | c.5949C>T (p.Leu1983=) c.3512+577C>T (n.3512+577C>T) c.3708C>T (p.Leu1236=) c.3648C>T (p.Leu1216=) c.3879C>T (p.Leu1293=) c.5813+577C>T (n.5813+577C>T) c.5798+577C>T (n.5798+577C>T) c.5858+577C>T (n.5858+577C>T) c.5889C>T (p.Leu1963=) | |
2 | g.26460070G>C | CA425206488 | OTOF | c.5949C>G (p.Leu1983=) c.3512+577C>G (n.3512+577C>G) c.3708C>G (p.Leu1236=) c.3648C>G (p.Leu1216=) c.3879C>G (p.Leu1293=) c.5813+577C>G (n.5813+577C>G) c.5798+577C>G (n.5798+577C>G) c.5858+577C>G (n.5858+577C>G) c.5889C>G (p.Leu1963=) | |
2 | g.26460070G>T | CA425206489 | OTOF | c.5949C>A (p.Leu1983=) c.3512+577C>A (n.3512+577C>A) c.3708C>A (p.Leu1236=) c.3648C>A (p.Leu1216=) c.3879C>A (p.Leu1293=) c.5813+577C>A (n.5813+577C>A) c.5798+577C>A (n.5798+577C>A) c.5858+577C>A (n.5858+577C>A) c.5889C>A (p.Leu1963=) | |
2 | g.26460071A>C | CA346127488 | OTOF | c.5948T>G (p.Leu1983Arg) c.3512+576T>G (n.3512+576T>G) c.3707T>G (p.Leu1236Arg) c.3647T>G (p.Leu1216Arg) c.3878T>G (p.Leu1293Arg) c.5813+576T>G (n.5813+576T>G) c.5798+576T>G (n.5798+576T>G) c.5858+576T>G (n.5858+576T>G) c.5888T>G (p.Leu1963Arg) | |
2 | g.26460071A>G | CA346127485 | OTOF | c.5948T>C (p.Leu1983Pro) c.3512+576T>C (n.3512+576T>C) c.3707T>C (p.Leu1236Pro) c.3647T>C (p.Leu1216Pro) c.3878T>C (p.Leu1293Pro) c.5813+576T>C (n.5813+576T>C) c.5798+576T>C (n.5798+576T>C) c.5858+576T>C (n.5858+576T>C) c.5888T>C (p.Leu1963Pro) | gnomAD v4 |
2 | g.26460071A>T | CA346127487 | OTOF | c.5948T>A (p.Leu1983His) c.3512+576T>A (n.3512+576T>A) c.3707T>A (p.Leu1236His) c.3647T>A (p.Leu1216His) c.3878T>A (p.Leu1293His) c.5813+576T>A (n.5813+576T>A) c.5798+576T>A (n.5798+576T>A) c.5858+576T>A (n.5858+576T>A) c.5888T>A (p.Leu1963His) | |
2 | g.26460072G>A | CA346127490 | OTOF | c.5947C>T (p.Leu1983Phe) c.3512+575C>T (n.3512+575C>T) c.3706C>T (p.Leu1236Phe) c.3646C>T (p.Leu1216Phe) c.3877C>T (p.Leu1293Phe) c.5813+575C>T (n.5813+575C>T) c.5798+575C>T (n.5798+575C>T) c.5858+575C>T (n.5858+575C>T) c.5887C>T (p.Leu1963Phe) | gnomAD v4 |
2 | g.26460072G>C | CA346127491 | OTOF | c.5947C>G (p.Leu1983Val) c.3512+575C>G (n.3512+575C>G) c.3706C>G (p.Leu1236Val) c.3646C>G (p.Leu1216Val) c.3877C>G (p.Leu1293Val) c.5813+575C>G (n.5813+575C>G) c.5798+575C>G (n.5798+575C>G) c.5858+575C>G (n.5858+575C>G) c.5887C>G (p.Leu1963Val) | |
2 | g.26460072G>T | CA346127492 | OTOF | c.5947C>A (p.Leu1983Ile) c.3512+575C>A (n.3512+575C>A) c.3706C>A (p.Leu1236Ile) c.3646C>A (p.Leu1216Ile) c.3877C>A (p.Leu1293Ile) c.5813+575C>A (n.5813+575C>A) c.5798+575C>A (n.5798+575C>A) c.5858+575C>A (n.5858+575C>A) c.5887C>A (p.Leu1963Ile) | gnomAD v4 |
2 | g.26460073del | CA2658232653 | OTOF | c.5947del (p.Leu1983SerfsTer?) c.3512+575del (n.3512+575del) c.3706del (p.Leu1236SerfsTer?) c.3646del (p.Leu1216SerfsTer?) c.3877del (p.Leu1293SerfsTer?) c.5813+575del (n.5813+575del) c.5798+575del (n.5798+575del) c.5858+575del (n.5858+575del) c.5887del (p.Leu1963SerfsTer?) | gnomAD v4 |
2 | g.26460073G>A | CA425206494 | OTOF | c.5946C>T (p.Phe1982=) c.3512+574C>T (n.3512+574C>T) c.3705C>T (p.Phe1235=) c.3645C>T (p.Phe1215=) c.3876C>T (p.Phe1292=) c.5813+574C>T (n.5813+574C>T) c.5798+574C>T (n.5798+574C>T) c.5858+574C>T (n.5858+574C>T) c.5886C>T (p.Phe1962=) | |
2 | g.26460073G>C | CA346127493 | OTOF | c.5946C>G (p.Phe1982Leu) c.3512+574C>G (n.3512+574C>G) c.3705C>G (p.Phe1235Leu) c.3645C>G (p.Phe1215Leu) c.3876C>G (p.Phe1292Leu) c.5813+574C>G (n.5813+574C>G) c.5798+574C>G (n.5798+574C>G) c.5858+574C>G (n.5858+574C>G) c.5886C>G (p.Phe1962Leu) | |
2 | g.26460073G>T | CA346127495 | OTOF | c.5946C>A (p.Phe1982Leu) c.3512+574C>A (n.3512+574C>A) c.3705C>A (p.Phe1235Leu) c.3645C>A (p.Phe1215Leu) c.3876C>A (p.Phe1292Leu) c.5813+574C>A (n.5813+574C>A) c.5798+574C>A (n.5798+574C>A) c.5858+574C>A (n.5858+574C>A) c.5886C>A (p.Phe1962Leu) | |
2 | g.26460074A= | CA1239823996 | OTOF | c.5945T= (p.Phe1982=) c.3512+573T= (n.3512+573T=) c.3704T= (p.Phe1235=) c.3644T= (p.Phe1215=) c.3875T= (p.Phe1292=) c.5813+573T= (n.5813+573T=) c.5798+573T= (n.5798+573T=) c.5858+573T= (n.5858+573T=) c.5885T= (p.Phe1962=) | |
2 | g.26460074A>C | CA346127496 | OTOF | c.5945T>G (p.Phe1982Cys) c.3512+573T>G (n.3512+573T>G) c.3704T>G (p.Phe1235Cys) c.3644T>G (p.Phe1215Cys) c.3875T>G (p.Phe1292Cys) c.5813+573T>G (n.5813+573T>G) c.5798+573T>G (n.5798+573T>G) c.5858+573T>G (n.5858+573T>G) c.5885T>G (p.Phe1962Cys) | |
2 | g.26460074A>G | CA346127499 | OTOF | c.5945T>C (p.Phe1982Ser) c.3512+573T>C (n.3512+573T>C) c.3704T>C (p.Phe1235Ser) c.3644T>C (p.Phe1215Ser) c.3875T>C (p.Phe1292Ser) c.5813+573T>C (n.5813+573T>C) c.5798+573T>C (n.5798+573T>C) c.5858+573T>C (n.5858+573T>C) c.5885T>C (p.Phe1962Ser) | dbSNP |
2 | g.26460074A>T | CA346127498 | OTOF | c.5945T>A (p.Phe1982Tyr) c.3512+573T>A (n.3512+573T>A) c.3704T>A (p.Phe1235Tyr) c.3644T>A (p.Phe1215Tyr) c.3875T>A (p.Phe1292Tyr) c.5813+573T>A (n.5813+573T>A) c.5798+573T>A (n.5798+573T>A) c.5858+573T>A (n.5858+573T>A) c.5885T>A (p.Phe1962Tyr) | |
2 | g.26460075A>C | CA346127500 | OTOF | c.5944T>G (p.Phe1982Val) c.3512+572T>G (n.3512+572T>G) c.3703T>G (p.Phe1235Val) c.3643T>G (p.Phe1215Val) c.3874T>G (p.Phe1292Val) c.5813+572T>G (n.5813+572T>G) c.5798+572T>G (n.5798+572T>G) c.5858+572T>G (n.5858+572T>G) c.5884T>G (p.Phe1962Val) | |
2 | g.26460075A>G | CA346127502 | OTOF | c.5944T>C (p.Phe1982Leu) c.3512+572T>C (n.3512+572T>C) c.3703T>C (p.Phe1235Leu) c.3643T>C (p.Phe1215Leu) c.3874T>C (p.Phe1292Leu) c.5813+572T>C (n.5813+572T>C) c.5798+572T>C (n.5798+572T>C) c.5858+572T>C (n.5858+572T>C) c.5884T>C (p.Phe1962Leu) | gnomAD v4 |
2 | g.26460075A>T | CA346127504 | OTOF | c.5944T>A (p.Phe1982Ile) c.3512+572T>A (n.3512+572T>A) c.3703T>A (p.Phe1235Ile) c.3643T>A (p.Phe1215Ile) c.3874T>A (p.Phe1292Ile) c.5813+572T>A (n.5813+572T>A) c.5798+572T>A (n.5798+572T>A) c.5858+572T>A (n.5858+572T>A) c.5884T>A (p.Phe1962Ile) | |
2 | g.26460076C>A | CA425206495 | OTOF | c.5943G>T (p.Leu1981=) c.3512+571G>T (n.3512+571G>T) c.3702G>T (p.Leu1234=) c.3642G>T (p.Leu1214=) c.3873G>T (p.Leu1291=) c.5813+571G>T (n.5813+571G>T) c.5798+571G>T (n.5798+571G>T) c.5858+571G>T (n.5858+571G>T) c.5883G>T (p.Leu1961=) | gnomAD v4 |
2 | g.26460076C= | CA1239823997 | OTOF | c.5943G= (p.Leu1981=) c.3512+571G= (n.3512+571G=) c.3702G= (p.Leu1234=) c.3642G= (p.Leu1214=) c.3873G= (p.Leu1291=) c.5813+571G= (n.5813+571G=) c.5798+571G= (n.5798+571G=) c.5858+571G= (n.5858+571G=) c.5883G= (p.Leu1961=) | |
2 | g.26460076C>G | CA425206496 | OTOF | c.5943G>C (p.Leu1981=) c.3512+571G>C (n.3512+571G>C) c.3702G>C (p.Leu1234=) c.3642G>C (p.Leu1214=) c.3873G>C (p.Leu1291=) c.5813+571G>C (n.5813+571G>C) c.5798+571G>C (n.5798+571G>C) c.5858+571G>C (n.5858+571G>C) c.5883G>C (p.Leu1961=) | |
2 | g.26460076C>T | CA44406184 | OTOF | c.5943G>A (p.Leu1981=) c.3512+571G>A (n.3512+571G>A) c.3702G>A (p.Leu1234=) c.3642G>A (p.Leu1214=) c.3873G>A (p.Leu1291=) c.5813+571G>A (n.5813+571G>A) c.5798+571G>A (n.5798+571G>A) c.5858+571G>A (n.5858+571G>A) c.5883G>A (p.Leu1961=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26460077A= | CA1239823999 | OTOF | c.5942T= (p.Leu1981=) c.3512+570T= (n.3512+570T=) c.3701T= (p.Leu1234=) c.3641T= (p.Leu1214=) c.3872T= (p.Leu1291=) c.5813+570T= (n.5813+570T=) c.5798+570T= (n.5798+570T=) c.5858+570T= (n.5858+570T=) c.5882T= (p.Leu1961=) | |
2 | g.26460077A>C | CA1562651 | OTOF | c.5942T>G (p.Leu1981Arg) c.3512+570T>G (n.3512+570T>G) c.3701T>G (p.Leu1234Arg) c.3641T>G (p.Leu1214Arg) c.3872T>G (p.Leu1291Arg) c.5813+570T>G (n.5813+570T>G) c.5798+570T>G (n.5798+570T>G) c.5858+570T>G (n.5858+570T>G) c.5882T>G (p.Leu1961Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26460077A>G | CA346127505 | OTOF | c.5942T>C (p.Leu1981Pro) c.3512+570T>C (n.3512+570T>C) c.3701T>C (p.Leu1234Pro) c.3641T>C (p.Leu1214Pro) c.3872T>C (p.Leu1291Pro) c.5813+570T>C (n.5813+570T>C) c.5798+570T>C (n.5798+570T>C) c.5858+570T>C (n.5858+570T>C) c.5882T>C (p.Leu1961Pro) | dbSNP gnomAD v4 |
2 | g.26460077A>T | CA346127506 | OTOF | c.5942T>A (p.Leu1981Gln) c.3512+570T>A (n.3512+570T>A) c.3701T>A (p.Leu1234Gln) c.3641T>A (p.Leu1214Gln) c.3872T>A (p.Leu1291Gln) c.5813+570T>A (n.5813+570T>A) c.5798+570T>A (n.5798+570T>A) c.5858+570T>A (n.5858+570T>A) c.5882T>A (p.Leu1961Gln) | |
2 | g.26460078G>A | CA425206497 | OTOF | c.5941C>T (p.Leu1981=) c.3512+569C>T (n.3512+569C>T) c.3700C>T (p.Leu1234=) c.3640C>T (p.Leu1214=) c.3871C>T (p.Leu1291=) c.5813+569C>T (n.5813+569C>T) c.5798+569C>T (n.5798+569C>T) c.5858+569C>T (n.5858+569C>T) c.5881C>T (p.Leu1961=) | ClinVar gnomAD v4 |
2 | g.26460078G>C | CA346127508 | OTOF | c.5941C>G (p.Leu1981Val) c.3512+569C>G (n.3512+569C>G) c.3700C>G (p.Leu1234Val) c.3640C>G (p.Leu1214Val) c.3871C>G (p.Leu1291Val) c.5813+569C>G (n.5813+569C>G) c.5798+569C>G (n.5798+569C>G) c.5858+569C>G (n.5858+569C>G) c.5881C>G (p.Leu1961Val) | dbSNP |
2 | g.26460078G= | CA1239824001 | OTOF | c.5941C= (p.Leu1981=) c.3512+569C= (n.3512+569C=) c.3700C= (p.Leu1234=) c.3640C= (p.Leu1214=) c.3871C= (p.Leu1291=) c.5813+569C= (n.5813+569C=) c.5798+569C= (n.5798+569C=) c.5858+569C= (n.5858+569C=) c.5881C= (p.Leu1961=) | |
2 | g.26460078G>T | CA346127509 | OTOF | c.5941C>A (p.Leu1981Met) c.3512+569C>A (n.3512+569C>A) c.3700C>A (p.Leu1234Met) c.3640C>A (p.Leu1214Met) c.3871C>A (p.Leu1291Met) c.5813+569C>A (n.5813+569C>A) c.5798+569C>A (n.5798+569C>A) c.5858+569C>A (n.5858+569C>A) c.5881C>A (p.Leu1961Met) | gnomAD v4 |
2 | g.26460079G>A | CA425206501 | OTOF | c.5940C>T (p.Ala1980=) c.3512+568C>T (n.3512+568C>T) c.3699C>T (p.Ala1233=) c.3639C>T (p.Ala1213=) c.3870C>T (p.Ala1290=) c.5813+568C>T (n.5813+568C>T) c.5798+568C>T (n.5798+568C>T) c.5858+568C>T (n.5858+568C>T) c.5880C>T (p.Ala1960=) | ClinVar dbSNP gnomAD v2 |
2 | g.26460079G>C | CA425206500 | OTOF | c.5940C>G (p.Ala1980=) c.3512+568C>G (n.3512+568C>G) c.3699C>G (p.Ala1233=) c.3639C>G (p.Ala1213=) c.3870C>G (p.Ala1290=) c.5813+568C>G (n.5813+568C>G) c.5798+568C>G (n.5798+568C>G) c.5858+568C>G (n.5858+568C>G) c.5880C>G (p.Ala1960=) | ClinVar |
2 | g.26460079G= | CA1239824003 | OTOF | c.5940C= (p.Ala1980=) c.3512+568C= (n.3512+568C=) c.3699C= (p.Ala1233=) c.3639C= (p.Ala1213=) c.3870C= (p.Ala1290=) c.5813+568C= (n.5813+568C=) c.5798+568C= (n.5798+568C=) c.5858+568C= (n.5858+568C=) c.5880C= (p.Ala1960=) | |
2 | g.26460079G>T | CA425206499 | OTOF | c.5940C>A (p.Ala1980=) c.3512+568C>A (n.3512+568C>A) c.3699C>A (p.Ala1233=) c.3639C>A (p.Ala1213=) c.3870C>A (p.Ala1290=) c.5813+568C>A (n.5813+568C>A) c.5798+568C>A (n.5798+568C>A) c.5858+568C>A (n.5858+568C>A) c.5880C>A (p.Ala1960=) | |
2 | g.26460080G>A | CA346127511 | OTOF | c.5939C>T (p.Ala1980Val) c.3512+567C>T (n.3512+567C>T) c.3698C>T (p.Ala1233Val) c.3638C>T (p.Ala1213Val) c.3869C>T (p.Ala1290Val) c.5813+567C>T (n.5813+567C>T) c.5798+567C>T (n.5798+567C>T) c.5858+567C>T (n.5858+567C>T) c.5879C>T (p.Ala1960Val) | |
2 | g.26460080G>C | CA346127513 | OTOF | c.5939C>G (p.Ala1980Gly) c.3512+567C>G (n.3512+567C>G) c.3698C>G (p.Ala1233Gly) c.3638C>G (p.Ala1213Gly) c.3869C>G (p.Ala1290Gly) c.5813+567C>G (n.5813+567C>G) c.5798+567C>G (n.5798+567C>G) c.5858+567C>G (n.5858+567C>G) c.5879C>G (p.Ala1960Gly) | |
2 | g.26460080G>T | CA346127514 | OTOF | c.5939C>A (p.Ala1980Asp) c.3512+567C>A (n.3512+567C>A) c.3698C>A (p.Ala1233Asp) c.3638C>A (p.Ala1213Asp) c.3869C>A (p.Ala1290Asp) c.5813+567C>A (n.5813+567C>A) c.5798+567C>A (n.5798+567C>A) c.5858+567C>A (n.5858+567C>A) c.5879C>A (p.Ala1960Asp) | gnomAD v4 |
2 | g.26460081C>A | CA1562652 | OTOF | c.5938G>T (p.Ala1980Ser) c.3512+566G>T (n.3512+566G>T) c.3697G>T (p.Ala1233Ser) c.3637G>T (p.Ala1213Ser) c.3868G>T (p.Ala1290Ser) c.5813+566G>T (n.5813+566G>T) c.5798+566G>T (n.5798+566G>T) c.5858+566G>T (n.5858+566G>T) c.5878G>T (p.Ala1960Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26460081C= | CA1239824006 | OTOF | c.5938G= (p.Ala1980=) c.3512+566G= (n.3512+566G=) c.3697G= (p.Ala1233=) c.3637G= (p.Ala1213=) c.3868G= (p.Ala1290=) c.5813+566G= (n.5813+566G=) c.5798+566G= (n.5798+566G=) c.5858+566G= (n.5858+566G=) c.5878G= (p.Ala1960=) | |
2 | g.26460081C>G | CA346127516 | OTOF | c.5938G>C (p.Ala1980Pro) c.3512+566G>C (n.3512+566G>C) c.3697G>C (p.Ala1233Pro) c.3637G>C (p.Ala1213Pro) c.3868G>C (p.Ala1290Pro) c.5813+566G>C (n.5813+566G>C) c.5798+566G>C (n.5798+566G>C) c.5858+566G>C (n.5858+566G>C) c.5878G>C (p.Ala1960Pro) | |
2 | g.26460081C>T | CA1562653 | OTOF | c.5938G>A (p.Ala1980Thr) c.3512+566G>A (n.3512+566G>A) c.3697G>A (p.Ala1233Thr) c.3637G>A (p.Ala1213Thr) c.3868G>A (p.Ala1290Thr) c.5813+566G>A (n.5813+566G>A) c.5798+566G>A (n.5798+566G>A) c.5858+566G>A (n.5858+566G>A) c.5878G>A (p.Ala1960Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26460081_26460084delinsCGAG | CA1239824005 | OTOF | c.5935_5938delinsCTCG (p.Leu1979=) c.3512+563_3512+566delinsCTCG (n.3512+563_3512+566delinsCTCG) c.3694_3697delinsCTCG (p.Leu1232=) c.3634_3637delinsCTCG (p.Leu1212=) c.3865_3868delinsCTCG (p.Leu1289=) c.5813+563_5813+566delinsCTCG (n.5813+563_5813+566delinsCTCG) c.5798+563_5798+566delinsCTCG (n.5798+563_5798+566delinsCTCG) c.5858+563_5858+566delinsCTCG (n.5858+563_5858+566delinsCTCG) c.5875_5878delinsCTCG (p.Leu1959=) | |
2 | g.26460082G>A | CA1562654 | OTOF | c.5937C>T (p.Leu1979=) c.3512+565C>T (n.3512+565C>T) c.3696C>T (p.Leu1232=) c.3636C>T (p.Leu1212=) c.3867C>T (p.Leu1289=) c.5813+565C>T (n.5813+565C>T) c.5798+565C>T (n.5798+565C>T) c.5858+565C>T (n.5858+565C>T) c.5877C>T (p.Leu1959=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26460082G>C | CA425206503 | OTOF | c.5937C>G (p.Leu1979=) c.3512+565C>G (n.3512+565C>G) c.3696C>G (p.Leu1232=) c.3636C>G (p.Leu1212=) c.3867C>G (p.Leu1289=) c.5813+565C>G (n.5813+565C>G) c.5798+565C>G (n.5798+565C>G) c.5858+565C>G (n.5858+565C>G) c.5877C>G (p.Leu1959=) | |
2 | g.26460082G= | CA1239824010 | OTOF | c.5937C= (p.Leu1979=) c.3512+565C= (n.3512+565C=) c.3696C= (p.Leu1232=) c.3636C= (p.Leu1212=) c.3867C= (p.Leu1289=) c.5813+565C= (n.5813+565C=) c.5798+565C= (n.5798+565C=) c.5858+565C= (n.5858+565C=) c.5877C= (p.Leu1959=) | |
2 | g.26460082G>T | CA44406188 | OTOF | c.5937C>A (p.Leu1979=) c.3512+565C>A (n.3512+565C>A) c.3696C>A (p.Leu1232=) c.3636C>A (p.Leu1212=) c.3867C>A (p.Leu1289=) c.5813+565C>A (n.5813+565C>A) c.5798+565C>A (n.5798+565C>A) c.5858+565C>A (n.5858+565C>A) c.5877C>A (p.Leu1959=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460091_26460093dup | CA2658232654 | OTOF | c.5935_5937dup (p.Leu1979_Ala1980insLeu) c.3512+563_3512+565dup (n.3512+563_3512+565dup) c.3694_3696dup (p.Leu1232_Ala1233insLeu) c.3634_3636dup (p.Leu1212_Ala1213insLeu) c.3865_3867dup (p.Leu1289_Ala1290insLeu) c.5813+563_5813+565dup (n.5813+563_5813+565dup) c.5798+563_5798+565dup (n.5798+563_5798+565dup) c.5858+563_5858+565dup (n.5858+563_5858+565dup) c.5875_5877dup (p.Leu1959_Ala1960insLeu) | gnomAD v4 |
2 | g.26460091_26460093del | CA531761761 | OTOF | c.5935_5937del (p.Leu1979del) c.3512+563_3512+565del (n.3512+563_3512+565del) c.3694_3696del (p.Leu1232del) c.3634_3636del (p.Leu1212del) c.3865_3867del (p.Leu1289del) c.5813+563_5813+565del (n.5813+563_5813+565del) c.5798+563_5798+565del (n.5798+563_5798+565del) c.5858+563_5858+565del (n.5858+563_5858+565del) c.5875_5877del (p.Leu1959del) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.26460083A>C | CA346127523 | OTOF | c.5936T>G (p.Leu1979Arg) c.3512+564T>G (n.3512+564T>G) c.3695T>G (p.Leu1232Arg) c.3635T>G (p.Leu1212Arg) c.3866T>G (p.Leu1289Arg) c.5813+564T>G (n.5813+564T>G) c.5798+564T>G (n.5798+564T>G) c.5858+564T>G (n.5858+564T>G) c.5876T>G (p.Leu1959Arg) | |
2 | g.26460083A>G | CA346127519 | OTOF | c.5936T>C (p.Leu1979Pro) c.3512+564T>C (n.3512+564T>C) c.3695T>C (p.Leu1232Pro) c.3635T>C (p.Leu1212Pro) c.3866T>C (p.Leu1289Pro) c.5813+564T>C (n.5813+564T>C) c.5798+564T>C (n.5798+564T>C) c.5858+564T>C (n.5858+564T>C) c.5876T>C (p.Leu1959Pro) | |
2 | g.26460083A>T | CA346127521 | OTOF | c.5936T>A (p.Leu1979His) c.3512+564T>A (n.3512+564T>A) c.3695T>A (p.Leu1232His) c.3635T>A (p.Leu1212His) c.3866T>A (p.Leu1289His) c.5813+564T>A (n.5813+564T>A) c.5798+564T>A (n.5798+564T>A) c.5858+564T>A (n.5858+564T>A) c.5876T>A (p.Leu1959His) | |
2 | g.26460084G>A | CA346127524 | OTOF | c.5935C>T (p.Leu1979Phe) c.3512+563C>T (n.3512+563C>T) c.3694C>T (p.Leu1232Phe) c.3634C>T (p.Leu1212Phe) c.3865C>T (p.Leu1289Phe) c.5813+563C>T (n.5813+563C>T) c.5798+563C>T (n.5798+563C>T) c.5858+563C>T (n.5858+563C>T) c.5875C>T (p.Leu1959Phe) | gnomAD v4 |
2 | g.26460084G>C | CA346127526 | OTOF | c.5935C>G (p.Leu1979Val) c.3512+563C>G (n.3512+563C>G) c.3694C>G (p.Leu1232Val) c.3634C>G (p.Leu1212Val) c.3865C>G (p.Leu1289Val) c.5813+563C>G (n.5813+563C>G) c.5798+563C>G (n.5798+563C>G) c.5858+563C>G (n.5858+563C>G) c.5875C>G (p.Leu1959Val) | |
2 | g.26460084G>T | CA346127527 | OTOF | c.5935C>A (p.Leu1979Ile) c.3512+563C>A (n.3512+563C>A) c.3694C>A (p.Leu1232Ile) c.3634C>A (p.Leu1212Ile) c.3865C>A (p.Leu1289Ile) c.5813+563C>A (n.5813+563C>A) c.5798+563C>A (n.5798+563C>A) c.5858+563C>A (n.5858+563C>A) c.5875C>A (p.Leu1959Ile) | gnomAD v4 |
2 | g.26460085G>A | CA44406189 | OTOF | c.5934C>T (p.Leu1978=) c.3512+562C>T (n.3512+562C>T) c.3693C>T (p.Leu1231=) c.3633C>T (p.Leu1211=) c.3864C>T (p.Leu1288=) c.5813+562C>T (n.5813+562C>T) c.5798+562C>T (n.5798+562C>T) c.5858+562C>T (n.5858+562C>T) c.5874C>T (p.Leu1958=) | dbSNP |
2 | g.26460085G>C | CA44406190 | OTOF | c.5934C>G (p.Leu1978=) c.3512+562C>G (n.3512+562C>G) c.3693C>G (p.Leu1231=) c.3633C>G (p.Leu1211=) c.3864C>G (p.Leu1288=) c.5813+562C>G (n.5813+562C>G) c.5798+562C>G (n.5798+562C>G) c.5858+562C>G (n.5858+562C>G) c.5874C>G (p.Leu1958=) | dbSNP |
2 | g.26460085G= | CA1239824013 | OTOF | c.5934C= (p.Leu1978=) c.3512+562C= (n.3512+562C=) c.3693C= (p.Leu1231=) c.3633C= (p.Leu1211=) c.3864C= (p.Leu1288=) c.5813+562C= (n.5813+562C=) c.5798+562C= (n.5798+562C=) c.5858+562C= (n.5858+562C=) c.5874C= (p.Leu1958=) | |
2 | g.26460085G>T | CA425206508 | OTOF | c.5934C>A (p.Leu1978=) c.3512+562C>A (n.3512+562C>A) c.3693C>A (p.Leu1231=) c.3633C>A (p.Leu1211=) c.3864C>A (p.Leu1288=) c.5813+562C>A (n.5813+562C>A) c.5798+562C>A (n.5798+562C>A) c.5858+562C>A (n.5858+562C>A) c.5874C>A (p.Leu1958=) | |
2 | g.26460086A>C | CA346127532 | OTOF | c.5933T>G (p.Leu1978Arg) c.3512+561T>G (n.3512+561T>G) c.3692T>G (p.Leu1231Arg) c.3632T>G (p.Leu1211Arg) c.3863T>G (p.Leu1288Arg) c.5813+561T>G (n.5813+561T>G) c.5798+561T>G (n.5798+561T>G) c.5858+561T>G (n.5858+561T>G) c.5873T>G (p.Leu1958Arg) | |
2 | g.26460086A>G | CA346127531 | OTOF | c.5933T>C (p.Leu1978Pro) c.3512+561T>C (n.3512+561T>C) c.3692T>C (p.Leu1231Pro) c.3632T>C (p.Leu1211Pro) c.3863T>C (p.Leu1288Pro) c.5813+561T>C (n.5813+561T>C) c.5798+561T>C (n.5798+561T>C) c.5858+561T>C (n.5858+561T>C) c.5873T>C (p.Leu1958Pro) | |
2 | g.26460086A>T | CA346127529 | OTOF | c.5933T>A (p.Leu1978His) c.3512+561T>A (n.3512+561T>A) c.3692T>A (p.Leu1231His) c.3632T>A (p.Leu1211His) c.3863T>A (p.Leu1288His) c.5813+561T>A (n.5813+561T>A) c.5798+561T>A (n.5798+561T>A) c.5858+561T>A (n.5858+561T>A) c.5873T>A (p.Leu1958His) | |
2 | g.26460087G>A | CA346127534 | OTOF | c.5932C>T (p.Leu1978Phe) c.3512+560C>T (n.3512+560C>T) c.3691C>T (p.Leu1231Phe) c.3631C>T (p.Leu1211Phe) c.3862C>T (p.Leu1288Phe) c.5813+560C>T (n.5813+560C>T) c.5798+560C>T (n.5798+560C>T) c.5858+560C>T (n.5858+560C>T) c.5872C>T (p.Leu1958Phe) | gnomAD v4 |
2 | g.26460087G>C | CA346127535 | OTOF | c.5932C>G (p.Leu1978Val) c.3512+560C>G (n.3512+560C>G) c.3691C>G (p.Leu1231Val) c.3631C>G (p.Leu1211Val) c.3862C>G (p.Leu1288Val) c.5813+560C>G (n.5813+560C>G) c.5798+560C>G (n.5798+560C>G) c.5858+560C>G (n.5858+560C>G) c.5872C>G (p.Leu1958Val) | |
2 | g.26460087G>T | CA346127537 | OTOF | c.5932C>A (p.Leu1978Ile) c.3512+560C>A (n.3512+560C>A) c.3691C>A (p.Leu1231Ile) c.3631C>A (p.Leu1211Ile) c.3862C>A (p.Leu1288Ile) c.5813+560C>A (n.5813+560C>A) c.5798+560C>A (n.5798+560C>A) c.5858+560C>A (n.5858+560C>A) c.5872C>A (p.Leu1958Ile) | |
2 | g.26460088G>A | CA44406192 | OTOF | c.5931C>T (p.Leu1977=) c.3512+559C>T (n.3512+559C>T) c.3690C>T (p.Leu1230=) c.3630C>T (p.Leu1210=) c.3861C>T (p.Leu1287=) c.5813+559C>T (n.5813+559C>T) c.5798+559C>T (n.5798+559C>T) c.5858+559C>T (n.5858+559C>T) c.5871C>T (p.Leu1957=) | dbSNP gnomAD v4 |
2 | g.26460088G>C | CA425206512 | OTOF | c.5931C>G (p.Leu1977=) c.3512+559C>G (n.3512+559C>G) c.3690C>G (p.Leu1230=) c.3630C>G (p.Leu1210=) c.3861C>G (p.Leu1287=) c.5813+559C>G (n.5813+559C>G) c.5798+559C>G (n.5798+559C>G) c.5858+559C>G (n.5858+559C>G) c.5871C>G (p.Leu1957=) | |
2 | g.26460088G= | CA1239824015 | OTOF | c.5931C= (p.Leu1977=) c.3512+559C= (n.3512+559C=) c.3690C= (p.Leu1230=) c.3630C= (p.Leu1210=) c.3861C= (p.Leu1287=) c.5813+559C= (n.5813+559C=) c.5798+559C= (n.5798+559C=) c.5858+559C= (n.5858+559C=) c.5871C= (p.Leu1957=) | |
2 | g.26460088G>T | CA425206513 | OTOF | c.5931C>A (p.Leu1977=) c.3512+559C>A (n.3512+559C>A) c.3690C>A (p.Leu1230=) c.3630C>A (p.Leu1210=) c.3861C>A (p.Leu1287=) c.5813+559C>A (n.5813+559C>A) c.5798+559C>A (n.5798+559C>A) c.5858+559C>A (n.5858+559C>A) c.5871C>A (p.Leu1957=) | |
2 | g.26460089A>C | CA346127539 | OTOF | c.5930T>G (p.Leu1977Arg) c.3512+558T>G (n.3512+558T>G) c.3689T>G (p.Leu1230Arg) c.3629T>G (p.Leu1210Arg) c.3860T>G (p.Leu1287Arg) c.5813+558T>G (n.5813+558T>G) c.5798+558T>G (n.5798+558T>G) c.5858+558T>G (n.5858+558T>G) c.5870T>G (p.Leu1957Arg) | |
2 | g.26460089A>G | CA346127540 | OTOF | c.5930T>C (p.Leu1977Pro) c.3512+558T>C (n.3512+558T>C) c.3689T>C (p.Leu1230Pro) c.3629T>C (p.Leu1210Pro) c.3860T>C (p.Leu1287Pro) c.5813+558T>C (n.5813+558T>C) c.5798+558T>C (n.5798+558T>C) c.5858+558T>C (n.5858+558T>C) c.5870T>C (p.Leu1957Pro) | |
2 | g.26460089A>T | CA346127541 | OTOF | c.5930T>A (p.Leu1977His) c.3512+558T>A (n.3512+558T>A) c.3689T>A (p.Leu1230His) c.3629T>A (p.Leu1210His) c.3860T>A (p.Leu1287His) c.5813+558T>A (n.5813+558T>A) c.5798+558T>A (n.5798+558T>A) c.5858+558T>A (n.5858+558T>A) c.5870T>A (p.Leu1957His) | |
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.26460090G>A | CA346127543 | OTOF | c.5929C>T (p.Leu1977Phe) c.3512+557C>T (n.3512+557C>T) c.3688C>T (p.Leu1230Phe) c.3628C>T (p.Leu1210Phe) c.3859C>T (p.Leu1287Phe) c.5813+557C>T (n.5813+557C>T) c.5798+557C>T (n.5798+557C>T) c.5858+557C>T (n.5858+557C>T) c.5869C>T (p.Leu1957Phe) | gnomAD v4 |
2 | g.26460090G>C | CA346127546 | OTOF | c.5929C>G (p.Leu1977Val) c.3512+557C>G (n.3512+557C>G) c.3688C>G (p.Leu1230Val) c.3628C>G (p.Leu1210Val) c.3859C>G (p.Leu1287Val) c.5813+557C>G (n.5813+557C>G) c.5798+557C>G (n.5798+557C>G) c.5858+557C>G (n.5858+557C>G) c.5869C>G (p.Leu1957Val) | |
2 | g.26460090G>T | CA346127544 | OTOF | c.5929C>A (p.Leu1977Ile) c.3512+557C>A (n.3512+557C>A) c.3688C>A (p.Leu1230Ile) c.3628C>A (p.Leu1210Ile) c.3859C>A (p.Leu1287Ile) c.5813+557C>A (n.5813+557C>A) c.5798+557C>A (n.5798+557C>A) c.5858+557C>A (n.5858+557C>A) c.5869C>A (p.Leu1957Ile) | |
2 | g.26460091G>A | CA425206516 | OTOF | c.5928C>T (p.Leu1976=) c.3512+556C>T (n.3512+556C>T) c.3687C>T (p.Leu1229=) c.3627C>T (p.Leu1209=) c.3858C>T (p.Leu1286=) c.5813+556C>T (n.5813+556C>T) c.5798+556C>T (n.5798+556C>T) c.5858+556C>T (n.5858+556C>T) c.5868C>T (p.Leu1956=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460091G>C | CA1562655 | OTOF | c.5928C>G (p.Leu1976=) c.3512+556C>G (n.3512+556C>G) c.3687C>G (p.Leu1229=) c.3627C>G (p.Leu1209=) c.3858C>G (p.Leu1286=) c.5813+556C>G (n.5813+556C>G) c.5798+556C>G (n.5798+556C>G) c.5858+556C>G (n.5858+556C>G) c.5868C>G (p.Leu1956=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26460091G= | CA1239824017 | OTOF | c.5928C= (p.Leu1976=) c.3512+556C= (n.3512+556C=) c.3687C= (p.Leu1229=) c.3627C= (p.Leu1209=) c.3858C= (p.Leu1286=) c.5813+556C= (n.5813+556C=) c.5798+556C= (n.5798+556C=) c.5858+556C= (n.5858+556C=) c.5868C= (p.Leu1956=) | |
2 | g.26460091G>T | CA425206517 | OTOF | c.5928C>A (p.Leu1976=) c.3512+556C>A (n.3512+556C>A) c.3687C>A (p.Leu1229=) c.3627C>A (p.Leu1209=) c.3858C>A (p.Leu1286=) c.5813+556C>A (n.5813+556C>A) c.5798+556C>A (n.5798+556C>A) c.5858+556C>A (n.5858+556C>A) c.5868C>A (p.Leu1956=) | |
2 | g.26460092A>C | CA346127548 | OTOF | c.5927T>G (p.Leu1976Arg) c.3512+555T>G (n.3512+555T>G) c.3686T>G (p.Leu1229Arg) c.3626T>G (p.Leu1209Arg) c.3857T>G (p.Leu1286Arg) c.5813+555T>G (n.5813+555T>G) c.5798+555T>G (n.5798+555T>G) c.5858+555T>G (n.5858+555T>G) c.5867T>G (p.Leu1956Arg) | |
2 | g.26460092A>G | CA346127549 | OTOF | c.5927T>C (p.Leu1976Pro) c.3512+555T>C (n.3512+555T>C) c.3686T>C (p.Leu1229Pro) c.3626T>C (p.Leu1209Pro) c.3857T>C (p.Leu1286Pro) c.5813+555T>C (n.5813+555T>C) c.5798+555T>C (n.5798+555T>C) c.5858+555T>C (n.5858+555T>C) c.5867T>C (p.Leu1956Pro) | gnomAD v4 |
2 | g.26460092A>T | CA346127550 | OTOF | c.5927T>A (p.Leu1976His) c.3512+555T>A (n.3512+555T>A) c.3686T>A (p.Leu1229His) c.3626T>A (p.Leu1209His) c.3857T>A (p.Leu1286His) c.5813+555T>A (n.5813+555T>A) c.5798+555T>A (n.5798+555T>A) c.5858+555T>A (n.5858+555T>A) c.5867T>A (p.Leu1956His) | |
2 | g.26460100_26460102dup | CA2658232657 | OTOF | c.5925_5927dup (p.Leu1976_Leu1977insLeu) c.3512+553_3512+555dup (n.3512+553_3512+555dup) c.3684_3686dup (p.Leu1229_Leu1230insLeu) c.3624_3626dup (p.Leu1209_Leu1210insLeu) c.3855_3857dup (p.Leu1286_Leu1287insLeu) c.5813+553_5813+555dup (n.5813+553_5813+555dup) c.5798+553_5798+555dup (n.5798+553_5798+555dup) c.5858+553_5858+555dup (n.5858+553_5858+555dup) c.5865_5867dup (p.Leu1956_Leu1957insLeu) | gnomAD v4 |
2 | g.26460100_26460102del | CA2658232658 | OTOF | c.5925_5927del (p.Leu1976del) c.3512+553_3512+555del (n.3512+553_3512+555del) c.3684_3686del (p.Leu1229del) c.3624_3626del (p.Leu1209del) c.3855_3857del (p.Leu1286del) c.5813+553_5813+555del (n.5813+553_5813+555del) c.5798+553_5798+555del (n.5798+553_5798+555del) c.5858+553_5858+555del (n.5858+553_5858+555del) c.5865_5867del (p.Leu1956del) | gnomAD v4 |
2 | g.26460093G>A | CA1562656 | OTOF | c.5926C>T (p.Leu1976Phe) c.3512+554C>T (n.3512+554C>T) c.3685C>T (p.Leu1229Phe) c.3625C>T (p.Leu1209Phe) c.3856C>T (p.Leu1286Phe) c.5813+554C>T (n.5813+554C>T) c.5798+554C>T (n.5798+554C>T) c.5858+554C>T (n.5858+554C>T) c.5866C>T (p.Leu1956Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26460093G>C | CA346127553 | OTOF | c.5926C>G (p.Leu1976Val) c.3512+554C>G (n.3512+554C>G) c.3685C>G (p.Leu1229Val) c.3625C>G (p.Leu1209Val) c.3856C>G (p.Leu1286Val) c.5813+554C>G (n.5813+554C>G) c.5798+554C>G (n.5798+554C>G) c.5858+554C>G (n.5858+554C>G) c.5866C>G (p.Leu1956Val) | |
2 | g.26460093G= | CA1239824019 | OTOF | c.5926C= (p.Leu1976=) c.3512+554C= (n.3512+554C=) c.3685C= (p.Leu1229=) c.3625C= (p.Leu1209=) c.3856C= (p.Leu1286=) c.5813+554C= (n.5813+554C=) c.5798+554C= (n.5798+554C=) c.5858+554C= (n.5858+554C=) c.5866C= (p.Leu1956=) | |
2 | g.26460093G>T | CA346127555 | OTOF | c.5926C>A (p.Leu1976Ile) c.3512+554C>A (n.3512+554C>A) c.3685C>A (p.Leu1229Ile) c.3625C>A (p.Leu1209Ile) c.3856C>A (p.Leu1286Ile) c.5813+554C>A (n.5813+554C>A) c.5798+554C>A (n.5798+554C>A) c.5858+554C>A (n.5858+554C>A) c.5866C>A (p.Leu1956Ile) | gnomAD v4 |
2 | g.26460093_26460094delinsGC | CA1239824018 | OTOF | c.5925_5926delinsGC (p.Leu1975=) c.3512+553_3512+554delinsGC (n.3512+553_3512+554delinsGC) c.3684_3685delinsGC (p.Leu1228=) c.3624_3625delinsGC (p.Leu1208=) c.3855_3856delinsGC (p.Leu1285=) c.5813+553_5813+554delinsGC (n.5813+553_5813+554delinsGC) c.5798+553_5798+554delinsGC (n.5798+553_5798+554delinsGC) c.5858+553_5858+554delinsGC (n.5858+553_5858+554delinsGC) c.5865_5866delinsGC (p.Leu1955=) | |
2 | g.26460094del | CA273475 | OTOF | c.5925del (p.Leu1976SerfsTer?) c.3512+553del (n.3512+553del) c.3684del (p.Leu1229SerfsTer?) c.3624del (p.Leu1209SerfsTer?) c.3855del (p.Leu1286SerfsTer?) c.5813+553del (n.5813+553del) c.5798+553del (n.5798+553del) c.5858+553del (n.5858+553del) c.5865del (p.Leu1956SerfsTer?) | ClinVar dbSNP |
2 | g.26460094C>A | CA425206523 | OTOF | c.5925G>T (p.Leu1975=) c.3512+553G>T (n.3512+553G>T) c.3684G>T (p.Leu1228=) c.3624G>T (p.Leu1208=) c.3855G>T (p.Leu1285=) c.5813+553G>T (n.5813+553G>T) c.5798+553G>T (n.5798+553G>T) c.5858+553G>T (n.5858+553G>T) c.5865G>T (p.Leu1955=) | gnomAD v4 |
2 | g.26460094C>G | CA425206521 | OTOF | c.5925G>C (p.Leu1975=) c.3512+553G>C (n.3512+553G>C) c.3684G>C (p.Leu1228=) c.3624G>C (p.Leu1208=) c.3855G>C (p.Leu1285=) c.5813+553G>C (n.5813+553G>C) c.5798+553G>C (n.5798+553G>C) c.5858+553G>C (n.5858+553G>C) c.5865G>C (p.Leu1955=) | |
2 | g.26460094C>T | CA425206520 | OTOF | c.5925G>A (p.Leu1975=) c.3512+553G>A (n.3512+553G>A) c.3684G>A (p.Leu1228=) c.3624G>A (p.Leu1208=) c.3855G>A (p.Leu1285=) c.5813+553G>A (n.5813+553G>A) c.5798+553G>A (n.5798+553G>A) c.5858+553G>A (n.5858+553G>A) c.5865G>A (p.Leu1955=) | gnomAD v4 |
2 | g.26460095A= | CA1239824023 | OTOF | c.5924T= (p.Leu1975=) c.3512+552T= (n.3512+552T=) c.3683T= (p.Leu1228=) c.3623T= (p.Leu1208=) c.3854T= (p.Leu1285=) c.5813+552T= (n.5813+552T=) c.5798+552T= (n.5798+552T=) c.5858+552T= (n.5858+552T=) c.5864T= (p.Leu1955=) | |
2 | g.26460095A>C | CA346127558 | OTOF | c.5924T>G (p.Leu1975Arg) c.3512+552T>G (n.3512+552T>G) c.3683T>G (p.Leu1228Arg) c.3623T>G (p.Leu1208Arg) c.3854T>G (p.Leu1285Arg) c.5813+552T>G (n.5813+552T>G) c.5798+552T>G (n.5798+552T>G) c.5858+552T>G (n.5858+552T>G) c.5864T>G (p.Leu1955Arg) | |
2 | g.26460095A>G | CA1562657 | OTOF | c.5924T>C (p.Leu1975Pro) c.3512+552T>C (n.3512+552T>C) c.3683T>C (p.Leu1228Pro) c.3623T>C (p.Leu1208Pro) c.3854T>C (p.Leu1285Pro) c.5813+552T>C (n.5813+552T>C) c.5798+552T>C (n.5798+552T>C) c.5858+552T>C (n.5858+552T>C) c.5864T>C (p.Leu1955Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26460095A>T | CA346127561 | OTOF | c.5924T>A (p.Leu1975Gln) c.3512+552T>A (n.3512+552T>A) c.3683T>A (p.Leu1228Gln) c.3623T>A (p.Leu1208Gln) c.3854T>A (p.Leu1285Gln) c.5813+552T>A (n.5813+552T>A) c.5798+552T>A (n.5798+552T>A) c.5858+552T>A (n.5858+552T>A) c.5864T>A (p.Leu1955Gln) | |
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.26460096del | CA2658232660 | OTOF | c.5923del (p.Leu1975CysfsTer?) c.3512+551del (n.3512+551del) c.3682del (p.Leu1228CysfsTer?) c.3622del (p.Leu1208CysfsTer?) c.3853del (p.Leu1285CysfsTer?) c.5813+551del (n.5813+551del) c.5798+551del (n.5798+551del) c.5858+551del (n.5858+551del) c.5863del (p.Leu1955CysfsTer?) | gnomAD v4 |
2 | g.26460096G>A | CA425206526 | OTOF | c.5923C>T (p.Leu1975=) c.3512+551C>T (n.3512+551C>T) c.3682C>T (p.Leu1228=) c.3622C>T (p.Leu1208=) c.3853C>T (p.Leu1285=) c.5813+551C>T (n.5813+551C>T) c.5798+551C>T (n.5798+551C>T) c.5858+551C>T (n.5858+551C>T) c.5863C>T (p.Leu1955=) | gnomAD v4 |
2 | g.26460096G>C | CA346127565 | OTOF | c.5923C>G (p.Leu1975Val) c.3512+551C>G (n.3512+551C>G) c.3682C>G (p.Leu1228Val) c.3622C>G (p.Leu1208Val) c.3853C>G (p.Leu1285Val) c.5813+551C>G (n.5813+551C>G) c.5798+551C>G (n.5798+551C>G) c.5858+551C>G (n.5858+551C>G) c.5863C>G (p.Leu1955Val) | |
2 | g.26460096G>T | CA346127563 | OTOF | c.5923C>A (p.Leu1975Met) c.3512+551C>A (n.3512+551C>A) c.3682C>A (p.Leu1228Met) c.3622C>A (p.Leu1208Met) c.3853C>A (p.Leu1285Met) c.5813+551C>A (n.5813+551C>A) c.5798+551C>A (n.5798+551C>A) c.5858+551C>A (n.5858+551C>A) c.5863C>A (p.Leu1955Met) | gnomAD v4 |
2 | g.26460097C>A | CA425206527 | OTOF | c.5922G>T (p.Leu1974=) c.3512+550G>T (n.3512+550G>T) c.3681G>T (p.Leu1227=) c.3621G>T (p.Leu1207=) c.3852G>T (p.Leu1284=) c.5813+550G>T (n.5813+550G>T) c.5798+550G>T (n.5798+550G>T) c.5858+550G>T (n.5858+550G>T) c.5862G>T (p.Leu1954=) | gnomAD v4 |
2 | g.26460097C= | CA1239824024 | OTOF | c.5922G= (p.Leu1974=) c.3512+550G= (n.3512+550G=) c.3681G= (p.Leu1227=) c.3621G= (p.Leu1207=) c.3852G= (p.Leu1284=) c.5813+550G= (n.5813+550G=) c.5798+550G= (n.5798+550G=) c.5858+550G= (n.5858+550G=) c.5862G= (p.Leu1954=) | |
2 | g.26460097C>G | CA425206529 | OTOF | c.5922G>C (p.Leu1974=) c.3512+550G>C (n.3512+550G>C) c.3681G>C (p.Leu1227=) c.3621G>C (p.Leu1207=) c.3852G>C (p.Leu1284=) c.5813+550G>C (n.5813+550G>C) c.5798+550G>C (n.5798+550G>C) c.5858+550G>C (n.5858+550G>C) c.5862G>C (p.Leu1954=) | |
2 | g.26460097C>T | CA177538 | OTOF | c.5922G>A (p.Leu1974=) c.3512+550G>A (n.3512+550G>A) c.3681G>A (p.Leu1227=) c.3621G>A (p.Leu1207=) c.3852G>A (p.Leu1284=) c.5813+550G>A (n.5813+550G>A) c.5798+550G>A (n.5798+550G>A) c.5858+550G>A (n.5858+550G>A) c.5862G>A (p.Leu1954=) | ClinVar dbSNP |
2 | g.26460098del | CA2576698613 | OTOF | c.5921del (p.Leu1974ArgfsTer?) c.3512+549del (n.3512+549del) c.3680del (p.Leu1227ArgfsTer?) c.3620del (p.Leu1207ArgfsTer?) c.3851del (p.Leu1284ArgfsTer?) c.5813+549del (n.5813+549del) c.5798+549del (n.5798+549del) c.5858+549del (n.5858+549del) c.5861del (p.Leu1954ArgfsTer?) | |
2 | g.26460098A= | CA1239824028 | OTOF | c.5921T= (p.Leu1974=) c.3512+549T= (n.3512+549T=) c.3680T= (p.Leu1227=) c.3620T= (p.Leu1207=) c.3851T= (p.Leu1284=) c.5813+549T= (n.5813+549T=) c.5798+549T= (n.5798+549T=) c.5858+549T= (n.5858+549T=) c.5861T= (p.Leu1954=) | |
2 | g.26460098A>C | CA346127568 | OTOF | c.5921T>G (p.Leu1974Arg) c.3512+549T>G (n.3512+549T>G) c.3680T>G (p.Leu1227Arg) c.3620T>G (p.Leu1207Arg) c.3851T>G (p.Leu1284Arg) c.5813+549T>G (n.5813+549T>G) c.5798+549T>G (n.5798+549T>G) c.5858+549T>G (n.5858+549T>G) c.5861T>G (p.Leu1954Arg) | |
2 | g.26460098A>G | CA346127571 | OTOF | c.5921T>C (p.Leu1974Pro) c.3512+549T>C (n.3512+549T>C) c.3680T>C (p.Leu1227Pro) c.3620T>C (p.Leu1207Pro) c.3851T>C (p.Leu1284Pro) c.5813+549T>C (n.5813+549T>C) c.5798+549T>C (n.5798+549T>C) c.5858+549T>C (n.5858+549T>C) c.5861T>C (p.Leu1954Pro) | gnomAD v4 |
2 | g.26460098A>T | CA346127575 | OTOF | c.5921T>A (p.Leu1974Gln) c.3512+549T>A (n.3512+549T>A) c.3680T>A (p.Leu1227Gln) c.3620T>A (p.Leu1207Gln) c.3851T>A (p.Leu1284Gln) c.5813+549T>A (n.5813+549T>A) c.5798+549T>A (n.5798+549T>A) c.5858+549T>A (n.5858+549T>A) c.5861T>A (p.Leu1954Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460099G>A | CA425206530 | OTOF | c.5920C>T (p.Leu1974=) c.3512+548C>T (n.3512+548C>T) c.3679C>T (p.Leu1227=) c.3619C>T (p.Leu1207=) c.3850C>T (p.Leu1284=) c.5813+548C>T (n.5813+548C>T) c.5798+548C>T (n.5798+548C>T) c.5858+548C>T (n.5858+548C>T) c.5860C>T (p.Leu1954=) | |
2 | g.26460099G>C | CA346127576 | OTOF | c.5920C>G (p.Leu1974Val) c.3512+548C>G (n.3512+548C>G) c.3679C>G (p.Leu1227Val) c.3619C>G (p.Leu1207Val) c.3850C>G (p.Leu1284Val) c.5813+548C>G (n.5813+548C>G) c.5798+548C>G (n.5798+548C>G) c.5858+548C>G (n.5858+548C>G) c.5860C>G (p.Leu1954Val) | |
2 | g.26460099G>T | CA346127578 | OTOF | c.5920C>A (p.Leu1974Met) c.3512+548C>A (n.3512+548C>A) c.3679C>A (p.Leu1227Met) c.3619C>A (p.Leu1207Met) c.3850C>A (p.Leu1284Met) c.5813+548C>A (n.5813+548C>A) c.5798+548C>A (n.5798+548C>A) c.5858+548C>A (n.5858+548C>A) c.5860C>A (p.Leu1954Met) | gnomAD v4 |
2 | g.26460100C>A | CA425206532 | OTOF | c.5919G>T (p.Leu1973=) c.3512+547G>T (n.3512+547G>T) c.3678G>T (p.Leu1226=) c.3618G>T (p.Leu1206=) c.3849G>T (p.Leu1283=) c.5813+547G>T (n.5813+547G>T) c.5798+547G>T (n.5798+547G>T) c.5858+547G>T (n.5858+547G>T) c.5859G>T (p.Leu1953=) | gnomAD v4 |
2 | g.26460100C>G | CA425206534 | OTOF | c.5919G>C (p.Leu1973=) c.3512+547G>C (n.3512+547G>C) c.3678G>C (p.Leu1226=) c.3618G>C (p.Leu1206=) c.3849G>C (p.Leu1283=) c.5813+547G>C (n.5813+547G>C) c.5798+547G>C (n.5798+547G>C) c.5858+547G>C (n.5858+547G>C) c.5859G>C (p.Leu1953=) | |
2 | g.26460100C>T | CA425206533 | OTOF | c.5919G>A (p.Leu1973=) c.3512+547G>A (n.3512+547G>A) c.3678G>A (p.Leu1226=) c.3618G>A (p.Leu1206=) c.3849G>A (p.Leu1283=) c.5813+547G>A (n.5813+547G>A) c.5798+547G>A (n.5798+547G>A) c.5858+547G>A (n.5858+547G>A) c.5859G>A (p.Leu1953=) | |
2 | g.26460101A>C | CA346127582 | OTOF | c.5918T>G (p.Leu1973Arg) c.3512+546T>G (n.3512+546T>G) c.3677T>G (p.Leu1226Arg) c.3617T>G (p.Leu1206Arg) c.3848T>G (p.Leu1283Arg) c.5813+546T>G (n.5813+546T>G) c.5798+546T>G (n.5798+546T>G) c.5858+546T>G (n.5858+546T>G) c.5858T>G (p.Leu1953Arg) | |
2 | g.26460101A>G | CA346127580 | OTOF | c.5918T>C (p.Leu1973Pro) c.3512+546T>C (n.3512+546T>C) c.3677T>C (p.Leu1226Pro) c.3617T>C (p.Leu1206Pro) c.3848T>C (p.Leu1283Pro) c.5813+546T>C (n.5813+546T>C) c.5798+546T>C (n.5798+546T>C) c.5858+546T>C (n.5858+546T>C) c.5858T>C (p.Leu1953Pro) | |
2 | g.26460101A>T | CA346127579 | OTOF | c.5918T>A (p.Leu1973Gln) c.3512+546T>A (n.3512+546T>A) c.3677T>A (p.Leu1226Gln) c.3617T>A (p.Leu1206Gln) c.3848T>A (p.Leu1283Gln) c.5813+546T>A (n.5813+546T>A) c.5798+546T>A (n.5798+546T>A) c.5858+546T>A (n.5858+546T>A) c.5858T>A (p.Leu1953Gln) | |
2 | g.26460102G>A | CA425206535 | OTOF | c.5917C>T (p.Leu1973=) c.3512+545C>T (n.3512+545C>T) c.3676C>T (p.Leu1226=) c.3616C>T (p.Leu1206=) c.3847C>T (p.Leu1283=) c.5813+545C>T (n.5813+545C>T) c.5798+545C>T (n.5798+545C>T) c.5858+545C>T (n.5858+545C>T) c.5857C>T (p.Leu1953=) | ClinVar |
2 | g.26460102G>C | CA346127583 | OTOF | c.5917C>G (p.Leu1973Val) c.3512+545C>G (n.3512+545C>G) c.3676C>G (p.Leu1226Val) c.3616C>G (p.Leu1206Val) c.3847C>G (p.Leu1283Val) c.5813+545C>G (n.5813+545C>G) c.5798+545C>G (n.5798+545C>G) c.5858+545C>G (n.5858+545C>G) c.5857C>G (p.Leu1953Val) | |
2 | g.26460102G>T | CA346127585 | OTOF | c.5917C>A (p.Leu1973Met) c.3512+545C>A (n.3512+545C>A) c.3676C>A (p.Leu1226Met) c.3616C>A (p.Leu1206Met) c.3847C>A (p.Leu1283Met) c.5813+545C>A (n.5813+545C>A) c.5798+545C>A (n.5798+545C>A) c.5858+545C>A (n.5858+545C>A) c.5857C>A (p.Leu1953Met) | |
2 | g.26460103G>A | CA1562658 | OTOF | c.5916C>T (p.Leu1972=) c.3512+544C>T (n.3512+544C>T) c.3675C>T (p.Leu1225=) c.3615C>T (p.Leu1205=) c.3846C>T (p.Leu1282=) c.5813+544C>T (n.5813+544C>T) c.5798+544C>T (n.5798+544C>T) c.5858+544C>T (n.5858+544C>T) c.5856C>T (p.Leu1952=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26460103G>C | CA425206538 | OTOF | c.5916C>G (p.Leu1972=) c.3512+544C>G (n.3512+544C>G) c.3675C>G (p.Leu1225=) c.3615C>G (p.Leu1205=) c.3846C>G (p.Leu1282=) c.5813+544C>G (n.5813+544C>G) c.5798+544C>G (n.5798+544C>G) c.5858+544C>G (n.5858+544C>G) c.5856C>G (p.Leu1952=) | |
2 | g.26460103G= | CA1239824029 | OTOF | c.5916C= (p.Leu1972=) c.3512+544C= (n.3512+544C=) c.3675C= (p.Leu1225=) c.3615C= (p.Leu1205=) c.3846C= (p.Leu1282=) c.5813+544C= (n.5813+544C=) c.5798+544C= (n.5798+544C=) c.5858+544C= (n.5858+544C=) c.5856C= (p.Leu1952=) | |
2 | g.26460103G>T | CA425206539 | OTOF | c.5916C>A (p.Leu1972=) c.3512+544C>A (n.3512+544C>A) c.3675C>A (p.Leu1225=) c.3615C>A (p.Leu1205=) c.3846C>A (p.Leu1282=) c.5813+544C>A (n.5813+544C>A) c.5798+544C>A (n.5798+544C>A) c.5858+544C>A (n.5858+544C>A) c.5856C>A (p.Leu1952=) | 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.26460106dup | CA2840398265 | OTOF | c.5913dup (p.Leu1972AlafsTer?) c.3512+541dup (n.3512+541dup) c.3672dup (p.Leu1225AlafsTer?) c.3612dup (p.Leu1205AlafsTer?) c.3843dup (p.Leu1282AlafsTer?) c.5813+541dup (n.5813+541dup) c.5798+541dup (n.5798+541dup) c.5858+541dup (n.5858+541dup) c.5853dup (p.Leu1952AlafsTer?) | |
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=) | |
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 |
2 | g.26460125A= | CA1239824057 | OTOF | c.5894T= (p.Leu1965=) c.3512+522T= (n.3512+522T=) c.3653T= (p.Leu1218=) c.3593T= (p.Leu1198=) c.3824T= (p.Leu1275=) c.5813+522T= (n.5813+522T=) c.5798+522T= (n.5798+522T=) c.5858+522T= (n.5858+522T=) c.5834T= (p.Leu1945=) | |
2 | g.26460125A>C | CA346127687 | OTOF | c.5894T>G (p.Leu1965Arg) c.3512+522T>G (n.3512+522T>G) c.3653T>G (p.Leu1218Arg) c.3593T>G (p.Leu1198Arg) c.3824T>G (p.Leu1275Arg) c.5813+522T>G (n.5813+522T>G) c.5798+522T>G (n.5798+522T>G) c.5858+522T>G (n.5858+522T>G) c.5834T>G (p.Leu1945Arg) | |
2 | g.26460125A>G | CA346127691 | OTOF | c.5894T>C (p.Leu1965Pro) c.3512+522T>C (n.3512+522T>C) c.3653T>C (p.Leu1218Pro) c.3593T>C (p.Leu1198Pro) c.3824T>C (p.Leu1275Pro) c.5813+522T>C (n.5813+522T>C) c.5798+522T>C (n.5798+522T>C) c.5858+522T>C (n.5858+522T>C) c.5834T>C (p.Leu1945Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460125A>T | CA346127693 | OTOF | c.5894T>A (p.Leu1965Gln) c.3512+522T>A (n.3512+522T>A) c.3653T>A (p.Leu1218Gln) c.3593T>A (p.Leu1198Gln) c.3824T>A (p.Leu1275Gln) c.5813+522T>A (n.5813+522T>A) c.5798+522T>A (n.5798+522T>A) c.5858+522T>A (n.5858+522T>A) c.5834T>A (p.Leu1945Gln) | |
2 | g.26460126del | CA2658232662 | OTOF | c.5893del (p.Leu1965CysfsTer?) c.3512+521del (n.3512+521del) c.3652del (p.Leu1218CysfsTer?) c.3592del (p.Leu1198CysfsTer?) c.3823del (p.Leu1275CysfsTer?) c.5813+521del (n.5813+521del) c.5798+521del (n.5798+521del) c.5858+521del (n.5858+521del) c.5833del (p.Leu1945CysfsTer?) | gnomAD v4 |
2 | g.26460126G>A | CA425206575 | OTOF | c.5893C>T (p.Leu1965=) c.3512+521C>T (n.3512+521C>T) c.3652C>T (p.Leu1218=) c.3592C>T (p.Leu1198=) c.3823C>T (p.Leu1275=) c.5813+521C>T (n.5813+521C>T) c.5798+521C>T (n.5798+521C>T) c.5858+521C>T (n.5858+521C>T) c.5833C>T (p.Leu1945=) | gnomAD v4 |
2 | g.26460126G>C | CA346127695 | OTOF | c.5893C>G (p.Leu1965Val) c.3512+521C>G (n.3512+521C>G) c.3652C>G (p.Leu1218Val) c.3592C>G (p.Leu1198Val) c.3823C>G (p.Leu1275Val) c.5813+521C>G (n.5813+521C>G) c.5798+521C>G (n.5798+521C>G) c.5858+521C>G (n.5858+521C>G) c.5833C>G (p.Leu1945Val) | dbSNP gnomAD v4 |
2 | g.26460126G= | CA1239824059 | OTOF | c.5893C= (p.Leu1965=) c.3512+521C= (n.3512+521C=) c.3652C= (p.Leu1218=) c.3592C= (p.Leu1198=) c.3823C= (p.Leu1275=) c.5813+521C= (n.5813+521C=) c.5798+521C= (n.5798+521C=) c.5858+521C= (n.5858+521C=) c.5833C= (p.Leu1945=) | |
2 | g.26460126G>T | CA346127700 | OTOF | c.5893C>A (p.Leu1965Met) c.3512+521C>A (n.3512+521C>A) c.3652C>A (p.Leu1218Met) c.3592C>A (p.Leu1198Met) c.3823C>A (p.Leu1275Met) c.5813+521C>A (n.5813+521C>A) c.5798+521C>A (n.5798+521C>A) c.5858+521C>A (n.5858+521C>A) c.5833C>A (p.Leu1945Met) | |
2 | g.26460127C>A | CA1562662 | OTOF | c.5892G>T (p.Trp1964Cys) c.3512+520G>T (n.3512+520G>T) c.3651G>T (p.Trp1217Cys) c.3591G>T (p.Trp1197Cys) c.3822G>T (p.Trp1274Cys) c.5813+520G>T (n.5813+520G>T) c.5798+520G>T (n.5798+520G>T) c.5858+520G>T (n.5858+520G>T) c.5832G>T (p.Trp1944Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26460127C= | CA1239824060 | OTOF | c.5892G= (p.Trp1964=) c.3512+520G= (n.3512+520G=) c.3651G= (p.Trp1217=) c.3591G= (p.Trp1197=) c.3822G= (p.Trp1274=) c.5813+520G= (n.5813+520G=) c.5798+520G= (n.5798+520G=) c.5858+520G= (n.5858+520G=) c.5832G= (p.Trp1944=) | |
2 | g.26460127C>G | CA346127705 | OTOF | c.5892G>C (p.Trp1964Cys) c.3512+520G>C (n.3512+520G>C) c.3651G>C (p.Trp1217Cys) c.3591G>C (p.Trp1197Cys) c.3822G>C (p.Trp1274Cys) c.5813+520G>C (n.5813+520G>C) c.5798+520G>C (n.5798+520G>C) c.5858+520G>C (n.5858+520G>C) c.5832G>C (p.Trp1944Cys) | |
2 | g.26460127C>T | CA346127703 | OTOF | c.5892G>A (p.Trp1964Ter) c.3512+520G>A (n.3512+520G>A) c.3651G>A (p.Trp1217Ter) c.3591G>A (p.Trp1197Ter) c.3822G>A (p.Trp1274Ter) c.5813+520G>A (n.5813+520G>A) c.5798+520G>A (n.5798+520G>A) c.5858+520G>A (n.5858+520G>A) c.5832G>A (p.Trp1944Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460128C>A | CA346127713 | OTOF | c.5891G>T (p.Trp1964Leu) c.3512+519G>T (n.3512+519G>T) c.3650G>T (p.Trp1217Leu) c.3590G>T (p.Trp1197Leu) c.3821G>T (p.Trp1274Leu) c.5813+519G>T (n.5813+519G>T) c.5798+519G>T (n.5798+519G>T) c.5858+519G>T (n.5858+519G>T) c.5831G>T (p.Trp1944Leu) | |
2 | g.26460128C>G | CA346127708 | OTOF | c.5891G>C (p.Trp1964Ser) c.3512+519G>C (n.3512+519G>C) c.3650G>C (p.Trp1217Ser) c.3590G>C (p.Trp1197Ser) c.3821G>C (p.Trp1274Ser) c.5813+519G>C (n.5813+519G>C) c.5798+519G>C (n.5798+519G>C) c.5858+519G>C (n.5858+519G>C) c.5831G>C (p.Trp1944Ser) | |
2 | g.26460128C>T | CA346127711 | OTOF | c.5891G>A (p.Trp1964Ter) c.3512+519G>A (n.3512+519G>A) c.3650G>A (p.Trp1217Ter) c.3590G>A (p.Trp1197Ter) c.3821G>A (p.Trp1274Ter) c.5813+519G>A (n.5813+519G>A) c.5798+519G>A (n.5798+519G>A) c.5858+519G>A (n.5858+519G>A) c.5831G>A (p.Trp1944Ter) | dbSNP gnomAD v4 |
2 | g.26460129A>C | CA346127715 | OTOF | c.5890T>G (p.Trp1964Gly) c.3512+518T>G (n.3512+518T>G) c.3649T>G (p.Trp1217Gly) c.3589T>G (p.Trp1197Gly) c.3820T>G (p.Trp1274Gly) c.5813+518T>G (n.5813+518T>G) c.5798+518T>G (n.5798+518T>G) c.5858+518T>G (n.5858+518T>G) c.5830T>G (p.Trp1944Gly) | |
2 | g.26460129A>G | CA346127717 | OTOF | c.5890T>C (p.Trp1964Arg) c.3512+518T>C (n.3512+518T>C) c.3649T>C (p.Trp1217Arg) c.3589T>C (p.Trp1197Arg) c.3820T>C (p.Trp1274Arg) c.5813+518T>C (n.5813+518T>C) c.5798+518T>C (n.5798+518T>C) c.5858+518T>C (n.5858+518T>C) c.5830T>C (p.Trp1944Arg) | |
2 | g.26460129A>T | CA346127720 | OTOF | c.5890T>A (p.Trp1964Arg) c.3512+518T>A (n.3512+518T>A) c.3649T>A (p.Trp1217Arg) c.3589T>A (p.Trp1197Arg) c.3820T>A (p.Trp1274Arg) c.5813+518T>A (n.5813+518T>A) c.5798+518T>A (n.5798+518T>A) c.5858+518T>A (n.5858+518T>A) c.5830T>A (p.Trp1944Arg) | |
2 | g.26460130G>A | CA425206580 | OTOF | c.5889C>T (p.Arg1963=) c.3512+517C>T (n.3512+517C>T) c.3648C>T (p.Arg1216=) c.3588C>T (p.Arg1196=) c.3819C>T (p.Arg1273=) c.5813+517C>T (n.5813+517C>T) c.5798+517C>T (n.5798+517C>T) c.5858+517C>T (n.5858+517C>T) c.5829C>T (p.Arg1943=) | |
2 | g.26460130G>C | CA425206582 | OTOF | c.5889C>G (p.Arg1963=) c.3512+517C>G (n.3512+517C>G) c.3648C>G (p.Arg1216=) c.3588C>G (p.Arg1196=) c.3819C>G (p.Arg1273=) c.5813+517C>G (n.5813+517C>G) c.5798+517C>G (n.5798+517C>G) c.5858+517C>G (n.5858+517C>G) c.5829C>G (p.Arg1943=) | |
2 | g.26460130G>T | CA425206583 | OTOF | c.5889C>A (p.Arg1963=) c.3512+517C>A (n.3512+517C>A) c.3648C>A (p.Arg1216=) c.3588C>A (p.Arg1196=) c.3819C>A (p.Arg1273=) c.5813+517C>A (n.5813+517C>A) c.5798+517C>A (n.5798+517C>A) c.5858+517C>A (n.5858+517C>A) c.5829C>A (p.Arg1943=) | |
2 | g.26460131C>A | CA346127722 | OTOF | c.5888G>T (p.Arg1963Leu) c.3512+516G>T (n.3512+516G>T) c.3647G>T (p.Arg1216Leu) c.3587G>T (p.Arg1196Leu) c.3818G>T (p.Arg1273Leu) c.5813+516G>T (n.5813+516G>T) c.5798+516G>T (n.5798+516G>T) c.5858+516G>T (n.5858+516G>T) c.5828G>T (p.Arg1943Leu) | gnomAD v4 |
2 | g.26460131C= | CA1239824063 | OTOF | c.5888G= (p.Arg1963=) c.3512+516G= (n.3512+516G=) c.3647G= (p.Arg1216=) c.3587G= (p.Arg1196=) c.3818G= (p.Arg1273=) c.5813+516G= (n.5813+516G=) c.5798+516G= (n.5798+516G=) c.5858+516G= (n.5858+516G=) c.5828G= (p.Arg1943=) | |
2 | g.26460131C>G | CA346127724 | OTOF | c.5888G>C (p.Arg1963Pro) c.3512+516G>C (n.3512+516G>C) c.3647G>C (p.Arg1216Pro) c.3587G>C (p.Arg1196Pro) c.3818G>C (p.Arg1273Pro) c.5813+516G>C (n.5813+516G>C) c.5798+516G>C (n.5798+516G>C) c.5858+516G>C (n.5858+516G>C) c.5828G>C (p.Arg1943Pro) | |
2 | g.26460131C>T | CA346127725 | OTOF | c.5888G>A (p.Arg1963His) c.3512+516G>A (n.3512+516G>A) c.3647G>A (p.Arg1216His) c.3587G>A (p.Arg1196His) c.3818G>A (p.Arg1273His) c.5813+516G>A (n.5813+516G>A) c.5798+516G>A (n.5798+516G>A) c.5858+516G>A (n.5858+516G>A) c.5828G>A (p.Arg1943His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26460132G>A | CA346127729 | OTOF | c.5887C>T (p.Arg1963Cys) c.3512+515C>T (n.3512+515C>T) c.3646C>T (p.Arg1216Cys) c.3586C>T (p.Arg1196Cys) c.3817C>T (p.Arg1273Cys) c.5813+515C>T (n.5813+515C>T) c.5798+515C>T (n.5798+515C>T) c.5858+515C>T (n.5858+515C>T) c.5827C>T (p.Arg1943Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26460132G>C | CA346127731 | OTOF | c.5887C>G (p.Arg1963Gly) c.3512+515C>G (n.3512+515C>G) c.3646C>G (p.Arg1216Gly) c.3586C>G (p.Arg1196Gly) c.3817C>G (p.Arg1273Gly) c.5813+515C>G (n.5813+515C>G) c.5798+515C>G (n.5798+515C>G) c.5858+515C>G (n.5858+515C>G) c.5827C>G (p.Arg1943Gly) | |
2 | g.26460132G= | CA1239824066 | OTOF | c.5887C= (p.Arg1963=) c.3512+515C= (n.3512+515C=) c.3646C= (p.Arg1216=) c.3586C= (p.Arg1196=) c.3817C= (p.Arg1273=) c.5813+515C= (n.5813+515C=) c.5798+515C= (n.5798+515C=) c.5858+515C= (n.5858+515C=) c.5827C= (p.Arg1943=) | |
2 | g.26460132G>T | CA1562663 | OTOF | c.5887C>A (p.Arg1963Ser) c.3512+515C>A (n.3512+515C>A) c.3646C>A (p.Arg1216Ser) c.3586C>A (p.Arg1196Ser) c.3817C>A (p.Arg1273Ser) c.5813+515C>A (n.5813+515C>A) c.5798+515C>A (n.5798+515C>A) c.5858+515C>A (n.5858+515C>A) c.5827C>A (p.Arg1943Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26460133A= | CA1239824069 | OTOF | c.5886T= (p.Tyr1962=) c.3512+514T= (n.3512+514T=) c.3645T= (p.Tyr1215=) c.3585T= (p.Tyr1195=) c.3816T= (p.Tyr1272=) c.5813+514T= (n.5813+514T=) c.5798+514T= (n.5798+514T=) c.5858+514T= (n.5858+514T=) c.5826T= (p.Tyr1942=) | |
2 | g.26460133A>C | CA346127733 | OTOF | c.5886T>G (p.Tyr1962Ter) c.3512+514T>G (n.3512+514T>G) c.3645T>G (p.Tyr1215Ter) c.3585T>G (p.Tyr1195Ter) c.3816T>G (p.Tyr1272Ter) c.5813+514T>G (n.5813+514T>G) c.5798+514T>G (n.5798+514T>G) c.5858+514T>G (n.5858+514T>G) c.5826T>G (p.Tyr1942Ter) | |
2 | g.26460133A>G | CA425206585 | OTOF | c.5886T>C (p.Tyr1962=) c.3512+514T>C (n.3512+514T>C) c.3645T>C (p.Tyr1215=) c.3585T>C (p.Tyr1195=) c.3816T>C (p.Tyr1272=) c.5813+514T>C (n.5813+514T>C) c.5798+514T>C (n.5798+514T>C) c.5858+514T>C (n.5858+514T>C) c.5826T>C (p.Tyr1942=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26460133A>T | CA346127736 | OTOF | c.5886T>A (p.Tyr1962Ter) c.3512+514T>A (n.3512+514T>A) c.3645T>A (p.Tyr1215Ter) c.3585T>A (p.Tyr1195Ter) c.3816T>A (p.Tyr1272Ter) c.5813+514T>A (n.5813+514T>A) c.5798+514T>A (n.5798+514T>A) c.5858+514T>A (n.5858+514T>A) c.5826T>A (p.Tyr1942Ter) | |
2 | g.26460134T>A | CA346127748 | OTOF | c.5885A>T (p.Tyr1962Phe) c.3512+513A>T (n.3512+513A>T) c.3644A>T (p.Tyr1215Phe) c.3584A>T (p.Tyr1195Phe) c.3815A>T (p.Tyr1272Phe) c.5813+513A>T (n.5813+513A>T) c.5798+513A>T (n.5798+513A>T) c.5858+513A>T (n.5858+513A>T) c.5825A>T (p.Tyr1942Phe) | |
2 | g.26460134T>C | CA1562664 | OTOF | c.5885A>G (p.Tyr1962Cys) c.3512+513A>G (n.3512+513A>G) c.3644A>G (p.Tyr1215Cys) c.3584A>G (p.Tyr1195Cys) c.3815A>G (p.Tyr1272Cys) c.5813+513A>G (n.5813+513A>G) c.5798+513A>G (n.5798+513A>G) c.5858+513A>G (n.5858+513A>G) c.5825A>G (p.Tyr1942Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26460134T>G | CA346127746 | OTOF | c.5885A>C (p.Tyr1962Ser) c.3512+513A>C (n.3512+513A>C) c.3644A>C (p.Tyr1215Ser) c.3584A>C (p.Tyr1195Ser) c.3815A>C (p.Tyr1272Ser) c.5813+513A>C (n.5813+513A>C) c.5798+513A>C (n.5798+513A>C) c.5858+513A>C (n.5858+513A>C) c.5825A>C (p.Tyr1942Ser) | |
2 | g.26460134T= | CA1239824074 | OTOF | c.5885A= (p.Tyr1962=) c.3512+513A= (n.3512+513A=) c.3644A= (p.Tyr1215=) c.3584A= (p.Tyr1195=) c.3815A= (p.Tyr1272=) c.5813+513A= (n.5813+513A=) c.5798+513A= (n.5798+513A=) c.5858+513A= (n.5858+513A=) c.5825A= (p.Tyr1942=) | |
2 | g.26460135A>C | CA346127752 | OTOF | c.5884T>G (p.Tyr1962Asp) c.3512+512T>G (n.3512+512T>G) c.3643T>G (p.Tyr1215Asp) c.3583T>G (p.Tyr1195Asp) c.3814T>G (p.Tyr1272Asp) c.5813+512T>G (n.5813+512T>G) c.5798+512T>G (n.5798+512T>G) c.5858+512T>G (n.5858+512T>G) c.5824T>G (p.Tyr1942Asp) | |
2 | g.26460135A>G | CA346127754 | OTOF | c.5884T>C (p.Tyr1962His) c.3512+512T>C (n.3512+512T>C) c.3643T>C (p.Tyr1215His) c.3583T>C (p.Tyr1195His) c.3814T>C (p.Tyr1272His) c.5813+512T>C (n.5813+512T>C) c.5798+512T>C (n.5798+512T>C) c.5858+512T>C (n.5858+512T>C) c.5824T>C (p.Tyr1942His) | gnomAD v4 |
2 | g.26460135A>T | CA346127757 | OTOF | c.5884T>A (p.Tyr1962Asn) c.3512+512T>A (n.3512+512T>A) c.3643T>A (p.Tyr1215Asn) c.3583T>A (p.Tyr1195Asn) c.3814T>A (p.Tyr1272Asn) c.5813+512T>A (n.5813+512T>A) c.5798+512T>A (n.5798+512T>A) c.5858+512T>A (n.5858+512T>A) c.5824T>A (p.Tyr1942Asn) | |
2 | g.26460136C>A | CA425206588 | OTOF | c.5883G>T (p.Thr1961=) c.3512+511G>T (n.3512+511G>T) c.3642G>T (p.Thr1214=) c.3582G>T (p.Thr1194=) c.3813G>T (p.Thr1271=) c.5813+511G>T (n.5813+511G>T) c.5798+511G>T (n.5798+511G>T) c.5858+511G>T (n.5858+511G>T) c.5823G>T (p.Thr1941=) | |
2 | g.26460136C= | CA1239824079 | OTOF | c.5883G= (p.Thr1961=) c.3512+511G= (n.3512+511G=) c.3642G= (p.Thr1214=) c.3582G= (p.Thr1194=) c.3813G= (p.Thr1271=) c.5813+511G= (n.5813+511G=) c.5798+511G= (n.5798+511G=) c.5858+511G= (n.5858+511G=) c.5823G= (p.Thr1941=) | |
2 | g.26460136C>G | CA425206587 | OTOF | c.5883G>C (p.Thr1961=) c.3512+511G>C (n.3512+511G>C) c.3642G>C (p.Thr1214=) c.3582G>C (p.Thr1194=) c.3813G>C (p.Thr1271=) c.5813+511G>C (n.5813+511G>C) c.5798+511G>C (n.5798+511G>C) c.5858+511G>C (n.5858+511G>C) c.5823G>C (p.Thr1941=) | gnomAD v4 |
2 | g.26460136C>T | CA1562665 | OTOF | c.5883G>A (p.Thr1961=) c.3512+511G>A (n.3512+511G>A) c.3642G>A (p.Thr1214=) c.3582G>A (p.Thr1194=) c.3813G>A (p.Thr1271=) c.5813+511G>A (n.5813+511G>A) c.5798+511G>A (n.5798+511G>A) c.5858+511G>A (n.5858+511G>A) c.5823G>A (p.Thr1941=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26460137G>A | CA1562666 | OTOF | c.5882C>T (p.Thr1961Met) c.3512+510C>T (n.3512+510C>T) c.3641C>T (p.Thr1214Met) c.3581C>T (p.Thr1194Met) c.3812C>T (p.Thr1271Met) c.5813+510C>T (n.5813+510C>T) c.5798+510C>T (n.5798+510C>T) c.5858+510C>T (n.5858+510C>T) c.5822C>T (p.Thr1941Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.26460137G>C | CA346127762 | OTOF | c.5882C>G (p.Thr1961Arg) c.3512+510C>G (n.3512+510C>G) c.3641C>G (p.Thr1214Arg) c.3581C>G (p.Thr1194Arg) c.3812C>G (p.Thr1271Arg) c.5813+510C>G (n.5813+510C>G) c.5798+510C>G (n.5798+510C>G) c.5858+510C>G (n.5858+510C>G) c.5822C>G (p.Thr1941Arg) | |
2 | g.26460137G= | CA1239824084 | OTOF | c.5882C= (p.Thr1961=) c.3512+510C= (n.3512+510C=) c.3641C= (p.Thr1214=) c.3581C= (p.Thr1194=) c.3812C= (p.Thr1271=) c.5813+510C= (n.5813+510C=) c.5798+510C= (n.5798+510C=) c.5858+510C= (n.5858+510C=) c.5822C= (p.Thr1941=) | |
2 | g.26460137G>T | CA346127763 | OTOF | c.5882C>A (p.Thr1961Lys) c.3512+510C>A (n.3512+510C>A) c.3641C>A (p.Thr1214Lys) c.3581C>A (p.Thr1194Lys) c.3812C>A (p.Thr1271Lys) c.5813+510C>A (n.5813+510C>A) c.5798+510C>A (n.5798+510C>A) c.5858+510C>A (n.5858+510C>A) c.5822C>A (p.Thr1941Lys) | gnomAD v4 |
2 | g.26460138T>A | CA346127765 | OTOF | c.5881A>T (p.Thr1961Ser) c.3512+509A>T (n.3512+509A>T) c.3640A>T (p.Thr1214Ser) c.3580A>T (p.Thr1194Ser) c.3811A>T (p.Thr1271Ser) c.5813+509A>T (n.5813+509A>T) c.5798+509A>T (n.5798+509A>T) c.5858+509A>T (n.5858+509A>T) c.5821A>T (p.Thr1941Ser) | |
2 | g.26460138T>C | CA346127767 | OTOF | c.5881A>G (p.Thr1961Ala) c.3512+509A>G (n.3512+509A>G) c.3640A>G (p.Thr1214Ala) c.3580A>G (p.Thr1194Ala) c.3811A>G (p.Thr1271Ala) c.5813+509A>G (n.5813+509A>G) c.5798+509A>G (n.5798+509A>G) c.5858+509A>G (n.5858+509A>G) c.5821A>G (p.Thr1941Ala) | gnomAD v4 |
2 | g.26460138T>G | CA346127771 | OTOF | c.5881A>C (p.Thr1961Pro) c.3512+509A>C (n.3512+509A>C) c.3640A>C (p.Thr1214Pro) c.3580A>C (p.Thr1194Pro) c.3811A>C (p.Thr1271Pro) c.5813+509A>C (n.5813+509A>C) c.5798+509A>C (n.5798+509A>C) c.5858+509A>C (n.5858+509A>C) c.5821A>C (p.Thr1941Pro) | |
2 | g.26460139G>A | CA425206591 | OTOF | c.5880C>T (p.His1960=) c.3512+508C>T (n.3512+508C>T) c.3639C>T (p.His1213=) c.3579C>T (p.His1193=) c.3810C>T (p.His1270=) c.5813+508C>T (n.5813+508C>T) c.5798+508C>T (n.5798+508C>T) c.5858+508C>T (n.5858+508C>T) c.5820C>T (p.His1940=) | gnomAD v4 |
2 | g.26460139G>C | CA346127773 | OTOF | c.5880C>G (p.His1960Gln) c.3512+508C>G (n.3512+508C>G) c.3639C>G (p.His1213Gln) c.3579C>G (p.His1193Gln) c.3810C>G (p.His1270Gln) c.5813+508C>G (n.5813+508C>G) c.5798+508C>G (n.5798+508C>G) c.5858+508C>G (n.5858+508C>G) c.5820C>G (p.His1940Gln) | gnomAD v4 |
2 | g.26460139G>T | CA346127776 | OTOF | c.5880C>A (p.His1960Gln) c.3512+508C>A (n.3512+508C>A) c.3639C>A (p.His1213Gln) c.3579C>A (p.His1193Gln) c.3810C>A (p.His1270Gln) c.5813+508C>A (n.5813+508C>A) c.5798+508C>A (n.5798+508C>A) c.5858+508C>A (n.5858+508C>A) c.5820C>A (p.His1940Gln) | gnomAD v4 |