| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26458074G>A | CA346125020 | OTOF | c.*164C>T (n.*164C>T) c.3659C>T (p.Pro1220Leu) c.5960C>T (p.Pro1987Leu) c.5945C>T (p.Pro1982Leu) c.6005C>T (p.Pro2002Leu) | |
| 2 | g.26458074G>C | CA117970 | OTOF | c.*164C>G (n.*164C>G) c.3659C>G (p.Pro1220Arg) c.5960C>G (p.Pro1987Arg) c.5945C>G (p.Pro1982Arg) c.6005C>G (p.Pro2002Arg) | ClinVar dbSNP |
| 2 | g.26458074G= | CA1239822138 | OTOF | c.*164C= (n.*164C=) c.3659C= (p.Pro1220=) c.5960C= (p.Pro1987=) c.5945C= (p.Pro1982=) c.6005C= (p.Pro2002=) | |
| 2 | g.26458074G>T | CA346125024 | OTOF | c.*164C>A (n.*164C>A) c.3659C>A (p.Pro1220His) c.5960C>A (p.Pro1987His) c.5945C>A (p.Pro1982His) c.6005C>A (p.Pro2002His) | |
| 2 | g.26458076del | CA2658232244 | OTOF | c.*164del (n.*164del) c.3659del (p.Pro1220LeufsTer?) c.5960del (p.Pro1987LeufsTer?) c.5945del (p.Pro1982LeufsTer?) c.6005del (p.Pro2002LeufsTer?) | gnomAD v4 |
| 2 | g.26458075G>A | CA346125030 | OTOF | c.*163C>T (n.*163C>T) c.3658C>T (p.Pro1220Ser) c.5959C>T (p.Pro1987Ser) c.5944C>T (p.Pro1982Ser) c.6004C>T (p.Pro2002Ser) | gnomAD v4 |
| 2 | g.26458075G>C | CA346125032 | OTOF | c.*163C>G (n.*163C>G) c.3658C>G (p.Pro1220Ala) c.5959C>G (p.Pro1987Ala) c.5944C>G (p.Pro1982Ala) c.6004C>G (p.Pro2002Ala) | COSMIC |
| 2 | g.26458075G>T | CA346125036 | OTOF | c.*163C>A (n.*163C>A) c.3658C>A (p.Pro1220Thr) c.5959C>A (p.Pro1987Thr) c.5944C>A (p.Pro1982Thr) c.6004C>A (p.Pro2002Thr) | |
| 2 | g.26458076G>A | CA2739799955 | OTOF | c.*162C>T (n.*162C>T) c.3657C>T (p.Leu1219=) c.5958C>T (p.Leu1986=) c.5943C>T (p.Leu1981=) c.6003C>T (p.Leu2001=) | |
| 2 | g.26458076G>C | CA2739799956 | OTOF | c.*162C>G (n.*162C>G) c.3657C>G (p.Leu1219=) c.5958C>G (p.Leu1986=) c.5943C>G (p.Leu1981=) c.6003C>G (p.Leu2001=) | |
| 2 | g.26458076G>T | CA2739799957 | OTOF | c.*162C>A (n.*162C>A) c.3657C>A (p.Leu1219=) c.5958C>A (p.Leu1986=) c.5943C>A (p.Leu1981=) c.6003C>A (p.Leu2001=) | |
| 2 | g.26458077A>C | CA346125048 | OTOF | c.*161T>G (n.*161T>G) c.3656T>G (p.Leu1219Arg) c.5957T>G (p.Leu1986Arg) c.5942T>G (p.Leu1981Arg) c.6002T>G (p.Leu2001Arg) | |
| 2 | g.26458077A>G | CA346125039 | OTOF | c.*161T>C (n.*161T>C) c.3656T>C (p.Leu1219Pro) c.5957T>C (p.Leu1986Pro) c.5942T>C (p.Leu1981Pro) c.6002T>C (p.Leu2001Pro) | |
| 2 | g.26458077A>T | CA346125045 | OTOF | c.*161T>A (n.*161T>A) c.3656T>A (p.Leu1219His) c.5957T>A (p.Leu1986His) c.5942T>A (p.Leu1981His) c.6002T>A (p.Leu2001His) | |
| 2 | g.26458078G>A | CA346125058 | OTOF | c.*160C>T (n.*160C>T) c.3655C>T (p.Leu1219Phe) c.5956C>T (p.Leu1986Phe) c.5941C>T (p.Leu1981Phe) c.6001C>T (p.Leu2001Phe) | |
| 2 | g.26458078G>C | CA346125066 | OTOF | c.*160C>G (n.*160C>G) c.3655C>G (p.Leu1219Val) c.5956C>G (p.Leu1986Val) c.5941C>G (p.Leu1981Val) c.6001C>G (p.Leu2001Val) | |
| 2 | g.26458078G>T | CA346125071 | OTOF | c.*160C>A (n.*160C>A) c.3655C>A (p.Leu1219Ile) c.5956C>A (p.Leu1986Ile) c.5941C>A (p.Leu1981Ile) c.6001C>A (p.Leu2001Ile) | |
| 2 | g.26458079G>A | CA531394302 | OTOF | c.*159C>T (n.*159C>T) c.3654C>T (p.Ser1218=) c.5955C>T (p.Ser1985=) c.5940C>T (p.Ser1980=) c.6000C>T (p.Ser2000=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26458079G>C | CA346125075 | OTOF | c.*159C>G (n.*159C>G) c.3654C>G (p.Ser1218Arg) c.5955C>G (p.Ser1985Arg) c.5940C>G (p.Ser1980Arg) c.6000C>G (p.Ser2000Arg) | gnomAD v4 |
| 2 | g.26458079G= | CA1239822144 | OTOF | c.*159C= (n.*159C=) c.3654C= (p.Ser1218=) c.5955C= (p.Ser1985=) c.5940C= (p.Ser1980=) c.6000C= (p.Ser2000=) | |
| 2 | g.26458079G>T | CA346125076 | OTOF | c.*159C>A (n.*159C>A) c.3654C>A (p.Ser1218Arg) c.5955C>A (p.Ser1985Arg) c.5940C>A (p.Ser1980Arg) c.6000C>A (p.Ser2000Arg) | |
| 2 | g.26458080C>A | CA346125079 | OTOF | c.*158G>T (n.*158G>T) c.3653G>T (p.Ser1218Ile) c.5954G>T (p.Ser1985Ile) c.5939G>T (p.Ser1980Ile) c.5999G>T (p.Ser2000Ile) | |
| 2 | g.26458080C>G | CA346125081 | OTOF | c.*158G>C (n.*158G>C) c.3653G>C (p.Ser1218Thr) c.5954G>C (p.Ser1985Thr) c.5939G>C (p.Ser1980Thr) c.5999G>C (p.Ser2000Thr) | |
| 2 | g.26458080C>T | CA346125087 | OTOF | c.*158G>A (n.*158G>A) c.3653G>A (p.Ser1218Asn) c.5954G>A (p.Ser1985Asn) c.5939G>A (p.Ser1980Asn) c.5999G>A (p.Ser2000Asn) | gnomAD v4 |
| 2 | g.26458081T>A | CA346125091 | OTOF | c.*157A>T (n.*157A>T) c.3652A>T (p.Ser1218Cys) c.5953A>T (p.Ser1985Cys) c.5938A>T (p.Ser1980Cys) c.5998A>T (p.Ser2000Cys) | gnomAD v4 |
| 2 | g.26458081T>C | CA346125097 | OTOF | c.*157A>G (n.*157A>G) c.3652A>G (p.Ser1218Gly) c.5953A>G (p.Ser1985Gly) c.5938A>G (p.Ser1980Gly) c.5998A>G (p.Ser2000Gly) | |
| 2 | g.26458081T>G | CA346125100 | OTOF | c.*157A>C (n.*157A>C) c.3652A>C (p.Ser1218Arg) c.5953A>C (p.Ser1985Arg) c.5938A>C (p.Ser1980Arg) c.5998A>C (p.Ser2000Arg) | |
| 2 | g.26458082G>A | CA1239822149 | OTOF | c.*156C>T (n.*156C>T) c.3651C>T (p.Tyr1217=) c.5952C>T (p.Tyr1984=) c.5937C>T (p.Tyr1979=) c.5997C>T (p.Tyr1999=) | dbSNP |
| 2 | g.26458082G>C | CA346125102 | OTOF | c.*156C>G (n.*156C>G) c.3651C>G (p.Tyr1217Ter) c.5952C>G (p.Tyr1984Ter) c.5937C>G (p.Tyr1979Ter) c.5997C>G (p.Tyr1999Ter) | |
| 2 | g.26458082G= | CA1239822146 | OTOF | c.*156C= (n.*156C=) c.3651C= (p.Tyr1217=) c.5952C= (p.Tyr1984=) c.5937C= (p.Tyr1979=) c.5997C= (p.Tyr1999=) | |
| 2 | g.26458082G>T | CA346125101 | OTOF | c.*156C>A (n.*156C>A) c.3651C>A (p.Tyr1217Ter) c.5952C>A (p.Tyr1984Ter) c.5937C>A (p.Tyr1979Ter) c.5997C>A (p.Tyr1999Ter) | |
| 2 | g.26458083T>A | CA346125103 | OTOF | c.*155A>T (n.*155A>T) c.3650A>T (p.Tyr1217Phe) c.5951A>T (p.Tyr1984Phe) c.5936A>T (p.Tyr1979Phe) c.5996A>T (p.Tyr1999Phe) | |
| 2 | g.26458083T>C | CA346125106 | OTOF | c.*155A>G (n.*155A>G) c.3650A>G (p.Tyr1217Cys) c.5951A>G (p.Tyr1984Cys) c.5936A>G (p.Tyr1979Cys) c.5996A>G (p.Tyr1999Cys) | |
| 2 | g.26458083T>G | CA346125104 | OTOF | c.*155A>C (n.*155A>C) c.3650A>C (p.Tyr1217Ser) c.5951A>C (p.Tyr1984Ser) c.5936A>C (p.Tyr1979Ser) c.5996A>C (p.Tyr1999Ser) | |
| 2 | g.26458084A>C | CA346125110 | OTOF | c.*154T>G (n.*154T>G) c.3649T>G (p.Tyr1217Asp) c.5950T>G (p.Tyr1984Asp) c.5935T>G (p.Tyr1979Asp) c.5995T>G (p.Tyr1999Asp) | |
| 2 | g.26458084A>G | CA346125117 | OTOF | c.*154T>C (n.*154T>C) c.3649T>C (p.Tyr1217His) c.5950T>C (p.Tyr1984His) c.5935T>C (p.Tyr1979His) c.5995T>C (p.Tyr1999His) | |
| 2 | g.26458084A>T | CA346125119 | OTOF | c.*154T>A (n.*154T>A) c.3649T>A (p.Tyr1217Asn) c.5950T>A (p.Tyr1984Asn) c.5935T>A (p.Tyr1979Asn) c.5995T>A (p.Tyr1999Asn) | |
| 2 | g.26458085G>A | CA1239822151 | OTOF | c.*153C>T (n.*153C>T) c.3648C>T (p.Leu1216=) c.5949C>T (p.Leu1983=) c.5934C>T (p.Leu1978=) c.5994C>T (p.Leu1998=) | dbSNP gnomAD v4 |
| 2 | g.26458085G>C | CA2739799958 | OTOF | c.*153C>G (n.*153C>G) c.3648C>G (p.Leu1216=) c.5949C>G (p.Leu1983=) c.5934C>G (p.Leu1978=) c.5994C>G (p.Leu1998=) | |
| 2 | g.26458085G= | CA1239822150 | OTOF | c.*153C= (n.*153C=) c.3648C= (p.Leu1216=) c.5949C= (p.Leu1983=) c.5934C= (p.Leu1978=) c.5994C= (p.Leu1998=) | |
| 2 | g.26458085G>T | CA2739799959 | OTOF | c.*153C>A (n.*153C>A) c.3648C>A (p.Leu1216=) c.5949C>A (p.Leu1983=) c.5934C>A (p.Leu1978=) c.5994C>A (p.Leu1998=) | |
| 2 | g.26458086A>C | CA346125120 | OTOF | c.*152T>G (n.*152T>G) c.3647T>G (p.Leu1216Arg) c.5948T>G (p.Leu1983Arg) c.5933T>G (p.Leu1978Arg) c.5993T>G (p.Leu1998Arg) | |
| 2 | g.26458086A>G | CA346125127 | OTOF | c.*152T>C (n.*152T>C) c.3647T>C (p.Leu1216Pro) c.5948T>C (p.Leu1983Pro) c.5933T>C (p.Leu1978Pro) c.5993T>C (p.Leu1998Pro) | |
| 2 | g.26458086A>T | CA346125128 | OTOF | c.*152T>A (n.*152T>A) c.3647T>A (p.Leu1216His) c.5948T>A (p.Leu1983His) c.5933T>A (p.Leu1978His) c.5993T>A (p.Leu1998His) | |
| 2 | g.26458087G>A | CA346125129 | OTOF | c.*151C>T (n.*151C>T) c.3646C>T (p.Leu1216Phe) c.5947C>T (p.Leu1983Phe) c.5932C>T (p.Leu1978Phe) c.5992C>T (p.Leu1998Phe) | gnomAD v4 |
| 2 | g.26458087G>C | CA346125130 | OTOF | c.*151C>G (n.*151C>G) c.3646C>G (p.Leu1216Val) c.5947C>G (p.Leu1983Val) c.5932C>G (p.Leu1978Val) c.5992C>G (p.Leu1998Val) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26458087G= | CA1239822152 | OTOF | c.*151C= (n.*151C=) c.3646C= (p.Leu1216=) c.5947C= (p.Leu1983=) c.5932C= (p.Leu1978=) c.5992C= (p.Leu1998=) | |
| 2 | g.26458087G>T | CA346125132 | OTOF | c.*151C>A (n.*151C>A) c.3646C>A (p.Leu1216Ile) c.5947C>A (p.Leu1983Ile) c.5932C>A (p.Leu1978Ile) c.5992C>A (p.Leu1998Ile) | |
| 2 | g.26458088G>A | CA2576699115 | OTOF | c.*150C>T (n.*150C>T) c.3645C>T (p.Phe1215=) c.5946C>T (p.Phe1982=) c.5931C>T (p.Phe1977=) c.5991C>T (p.Phe1997=) | |
| 2 | g.26458088G>C | CA346125135 | OTOF | c.*150C>G (n.*150C>G) c.3645C>G (p.Phe1215Leu) c.5946C>G (p.Phe1982Leu) c.5931C>G (p.Phe1977Leu) c.5991C>G (p.Phe1997Leu) | gnomAD v4 |