Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11200710G>ACA9206292DOCK6c.6044+6C>T (n.6044+6C>T)
c.5939+6C>T (n.5939+6C>T)
n.842+6C>T
c.3804+6C>T
c.76-1171C>T (n.76-1171C>T)
c.6137+6C>T (n.6137+6C>T)
c.3275+6C>T (n.3275+6C>T)
c.6077+6C>T (n.6077+6C>T)
c.6065+6C>T (n.6065+6C>T)
c.5972+6C>T (n.5972+6C>T)
n.6184+6C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11200710G=CA2322816756DOCK6c.6044+6C= (n.6044+6C=)
c.5939+6C= (n.5939+6C=)
n.842+6C=
c.3804+6C=
c.76-1171C= (n.76-1171C=)
c.6137+6C= (n.6137+6C=)
c.3275+6C= (n.3275+6C=)
c.6077+6C= (n.6077+6C=)
c.6065+6C= (n.6065+6C=)
c.5972+6C= (n.5972+6C=)
n.6184+6C=
19g.11200710G>TCA2582489595DOCK6c.6044+6C>A (n.6044+6C>A)
c.5939+6C>A (n.5939+6C>A)
n.842+6C>A
c.3804+6C>A
c.76-1171C>A (n.76-1171C>A)
c.6137+6C>A (n.6137+6C>A)
c.3275+6C>A (n.3275+6C>A)
c.6077+6C>A (n.6077+6C>A)
c.6065+6C>A (n.6065+6C>A)
c.5972+6C>A (n.5972+6C>A)
n.6184+6C>A
 gnomAD v4
19g.11200711C=CA2322816757DOCK6c.6044+5G= (n.6044+5G=)
c.5939+5G= (n.5939+5G=)
n.842+5G=
c.3804+5G=
c.76-1172G= (n.76-1172G=)
c.6137+5G= (n.6137+5G=)
c.3275+5G= (n.3275+5G=)
c.6077+5G= (n.6077+5G=)
c.6065+5G= (n.6065+5G=)
c.5972+5G= (n.5972+5G=)
n.6184+5G=
19g.11200711C>TCA9206293DOCK6c.6044+5G>A (n.6044+5G>A)
c.5939+5G>A (n.5939+5G>A)
n.842+5G>A
c.3804+5G>A
c.76-1172G>A (n.76-1172G>A)
c.6137+5G>A (n.6137+5G>A)
c.3275+5G>A (n.3275+5G>A)
c.6077+5G>A (n.6077+5G>A)
c.6065+5G>A (n.6065+5G>A)
c.5972+5G>A (n.5972+5G>A)
n.6184+5G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11200712C=CA2322816758DOCK6c.6044+4G= (n.6044+4G=)
c.5939+4G= (n.5939+4G=)
n.842+4G=
c.3804+4G=
c.76-1173G= (n.76-1173G=)
c.6137+4G= (n.6137+4G=)
c.3275+4G= (n.3275+4G=)
c.6077+4G= (n.6077+4G=)
c.6065+4G= (n.6065+4G=)
c.5972+4G= (n.5972+4G=)
n.6184+4G=
19g.11200712C>GCA9206294DOCK6c.6044+4G>C (n.6044+4G>C)
c.5939+4G>C (n.5939+4G>C)
n.842+4G>C
c.3804+4G>C
c.76-1173G>C (n.76-1173G>C)
c.6137+4G>C (n.6137+4G>C)
c.3275+4G>C (n.3275+4G>C)
c.6077+4G>C (n.6077+4G>C)
c.6065+4G>C (n.6065+4G>C)
c.5972+4G>C (n.5972+4G>C)
n.6184+4G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11200714A=CA2322816759DOCK6c.6044+2T= (n.6044+2T=)
c.5939+2T= (n.5939+2T=)
n.842+2T=
c.3804+2T=
c.76-1175T= (n.76-1175T=)
c.6137+2T= (n.6137+2T=)
c.3275+2T= (n.3275+2T=)
c.6077+2T= (n.6077+2T=)
c.6065+2T= (n.6065+2T=)
c.5972+2T= (n.5972+2T=)
n.6184+2T=
19g.11200714A>CCA404069669DOCK6c.6044+2T>G (n.6044+2T>G)
c.5939+2T>G (n.5939+2T>G)
n.842+2T>G
c.3804+2T>G
c.76-1175T>G (n.76-1175T>G)
c.6137+2T>G (n.6137+2T>G)
c.3275+2T>G (n.3275+2T>G)
c.6077+2T>G (n.6077+2T>G)
c.6065+2T>G (n.6065+2T>G)
c.5972+2T>G (n.5972+2T>G)
n.6184+2T>G
 dbSNP gnomAD v2 gnomAD v4
19g.11200714A>GCA9206295DOCK6c.6044+2T>C (n.6044+2T>C)
c.5939+2T>C (n.5939+2T>C)
n.842+2T>C
c.3804+2T>C
c.76-1175T>C (n.76-1175T>C)
c.6137+2T>C (n.6137+2T>C)
c.3275+2T>C (n.3275+2T>C)
c.6077+2T>C (n.6077+2T>C)
c.6065+2T>C (n.6065+2T>C)
c.5972+2T>C (n.5972+2T>C)
n.6184+2T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11200714A>TCA404069674DOCK6c.6044+2T>A (n.6044+2T>A)
c.5939+2T>A (n.5939+2T>A)
n.842+2T>A
c.3804+2T>A
c.76-1175T>A (n.76-1175T>A)
c.6137+2T>A (n.6137+2T>A)
c.3275+2T>A (n.3275+2T>A)
c.6077+2T>A (n.6077+2T>A)
c.6065+2T>A (n.6065+2T>A)
c.5972+2T>A (n.5972+2T>A)
n.6184+2T>A
19g.11200715C>ACA404069677DOCK6c.6044+1G>T (n.6044+1G>T)
c.5939+1G>T (n.5939+1G>T)
n.842+1G>T
c.3804+1G>T
c.75+1174G>T (n.75+1174G>T)
c.6137+1G>T (n.6137+1G>T)
c.3275+1G>T (n.3275+1G>T)
c.6077+1G>T (n.6077+1G>T)
c.6065+1G>T (n.6065+1G>T)
c.5972+1G>T (n.5972+1G>T)
n.6184+1G>T
19g.11200715C>GCA404069679DOCK6c.6044+1G>C (n.6044+1G>C)
c.5939+1G>C (n.5939+1G>C)
n.842+1G>C
c.3804+1G>C
c.75+1174G>C (n.75+1174G>C)
c.6137+1G>C (n.6137+1G>C)
c.3275+1G>C (n.3275+1G>C)
c.6077+1G>C (n.6077+1G>C)
c.6065+1G>C (n.6065+1G>C)
c.5972+1G>C (n.5972+1G>C)
n.6184+1G>C
19g.11200715C>TCA404069681DOCK6c.6044+1G>A (n.6044+1G>A)
c.5939+1G>A (n.5939+1G>A)
n.842+1G>A
c.3804+1G>A
c.75+1174G>A (n.75+1174G>A)
c.6137+1G>A (n.6137+1G>A)
c.3275+1G>A (n.3275+1G>A)
c.6077+1G>A (n.6077+1G>A)
c.6065+1G>A (n.6065+1G>A)
c.5972+1G>A (n.5972+1G>A)
n.6184+1G>A
 gnomAD v4
19g.11200718_11200720delCA2582489597DOCK6c.6043_6044+1del
c.5938_5939+1del
n.841_842+1del
c.3803_3804+1del
c.75+1172_75+1174del (n.75+1172_75+1174del)
c.6136_6137+1del
c.3274_3275+1del
c.6076_6077+1del
c.6064_6065+1del
c.5971_5972+1del
n.6183_6184+1del
 gnomAD v4
19g.11200716T>ACA404069685DOCK6c.6044A>T (p.Lys2015Ile)
c.5939A>T (p.Lys1980Ile)
n.842A>T
c.3804A>T
c.75+1173A>T (n.75+1173A>T)
c.6137A>T (p.Lys2046Ile)
c.3275A>T (p.Lys1092Ile)
c.6077A>T (p.Lys2026Ile)
c.6065A>T (p.Lys2022Ile)
c.5972A>T (p.Lys1991Ile)
n.6184A>T
19g.11200716T>CCA305301856DOCK6c.6044A>G (p.Lys2015Arg)
c.5939A>G (p.Lys1980Arg)
n.842A>G
c.3804A>G
c.75+1173A>G (n.75+1173A>G)
c.6137A>G (p.Lys2046Arg)
c.3275A>G (p.Lys1092Arg)
c.6077A>G (p.Lys2026Arg)
c.6065A>G (p.Lys2022Arg)
c.5972A>G (p.Lys1991Arg)
n.6184A>G
 dbSNP
19g.11200716T>GCA404069688DOCK6c.6044A>C (p.Lys2015Thr)
c.5939A>C (p.Lys1980Thr)
n.842A>C
c.3804A>C
c.75+1173A>C (n.75+1173A>C)
c.6137A>C (p.Lys2046Thr)
c.3275A>C (p.Lys1092Thr)
c.6077A>C (p.Lys2026Thr)
c.6065A>C (p.Lys2022Thr)
c.5972A>C (p.Lys1991Thr)
n.6184A>C
19g.11200716T=CA2322816760DOCK6c.6044A= (p.Lys2015=)
c.5939A= (p.Lys1980=)
n.842A=
c.3804A=
c.75+1173A= (n.75+1173A=)
c.6137A= (p.Lys2046=)
c.3275A= (p.Lys1092=)
c.6077A= (p.Lys2026=)
c.6065A= (p.Lys2022=)
c.5972A= (p.Lys1991=)
n.6184A=
19g.11200717T>ACA404069695DOCK6c.6043A>T (p.Lys2015Ter)
c.5938A>T (p.Lys1980Ter)
n.841A>T
c.3803A>T
c.75+1172A>T (n.75+1172A>T)
c.6136A>T (p.Lys2046Ter)
c.3274A>T (p.Lys1092Ter)
c.6076A>T (p.Lys2026Ter)
c.6064A>T (p.Lys2022Ter)
c.5971A>T (p.Lys1991Ter)
n.6183A>T
19g.11200717T>CCA404069697DOCK6c.6043A>G (p.Lys2015Glu)
c.5938A>G (p.Lys1980Glu)
n.841A>G
c.3803A>G
c.75+1172A>G (n.75+1172A>G)
c.6136A>G (p.Lys2046Glu)
c.3274A>G (p.Lys1092Glu)
c.6076A>G (p.Lys2026Glu)
c.6064A>G (p.Lys2022Glu)
c.5971A>G (p.Lys1991Glu)
n.6183A>G
 ClinVar gnomAD v4
19g.11200717T>GCA404069693DOCK6c.6043A>C (p.Lys2015Gln)
c.5938A>C (p.Lys1980Gln)
n.841A>C
c.3803A>C
c.75+1172A>C (n.75+1172A>C)
c.6136A>C (p.Lys2046Gln)
c.3274A>C (p.Lys1092Gln)
c.6076A>C (p.Lys2026Gln)
c.6064A>C (p.Lys2022Gln)
c.5971A>C (p.Lys1991Gln)
n.6183A>C
19g.11200718C>ACA404069701DOCK6c.6042G>T (p.Lys2014Asn)
c.5937G>T (p.Lys1979Asn)
n.840G>T
c.3802G>T
c.75+1171G>T (n.75+1171G>T)
c.6135G>T (p.Lys2045Asn)
c.3273G>T (p.Lys1091Asn)
c.6075G>T (p.Lys2025Asn)
c.6063G>T (p.Lys2021Asn)
c.5970G>T (p.Lys1990Asn)
n.6182G>T
19g.11200718C=CA2322816761DOCK6c.6042G= (p.Lys2014=)
c.5937G= (p.Lys1979=)
n.840G=
c.3802G=
c.75+1171G= (n.75+1171G=)
c.6135G= (p.Lys2045=)
c.3273G= (p.Lys1091=)
c.6075G= (p.Lys2025=)
c.6063G= (p.Lys2021=)
c.5970G= (p.Lys1990=)
n.6182G=
19g.11200718C>GCA404069700DOCK6c.6042G>C (p.Lys2014Asn)
c.5937G>C (p.Lys1979Asn)
n.840G>C
c.3802G>C
c.75+1171G>C (n.75+1171G>C)
c.6135G>C (p.Lys2045Asn)
c.3273G>C (p.Lys1091Asn)
c.6075G>C (p.Lys2025Asn)
c.6063G>C (p.Lys2021Asn)
c.5970G>C (p.Lys1990Asn)
n.6182G>C
19g.11200718C>TCA505745656DOCK6c.6042G>A (p.Lys2014=)
c.5937G>A (p.Lys1979=)
n.840G>A
c.3802G>A
c.75+1171G>A (n.75+1171G>A)
c.6135G>A (p.Lys2045=)
c.3273G>A (p.Lys1091=)
c.6075G>A (p.Lys2025=)
c.6063G>A (p.Lys2021=)
c.5970G>A (p.Lys1990=)
n.6182G>A
 dbSNP gnomAD v4
19g.11200719T>ACA404069709DOCK6c.6041A>T (p.Lys2014Met)
c.5936A>T (p.Lys1979Met)
n.839A>T
c.3801A>T
c.75+1170A>T (n.75+1170A>T)
c.6134A>T (p.Lys2045Met)
c.3272A>T (p.Lys1091Met)
c.6074A>T (p.Lys2025Met)
c.6062A>T (p.Lys2021Met)
c.5969A>T (p.Lys1990Met)
n.6181A>T
19g.11200719T>CCA404069705DOCK6c.6041A>G (p.Lys2014Arg)
c.5936A>G (p.Lys1979Arg)
n.839A>G
c.3801A>G
c.75+1170A>G (n.75+1170A>G)
c.6134A>G (p.Lys2045Arg)
c.3272A>G (p.Lys1091Arg)
c.6074A>G (p.Lys2025Arg)
c.6062A>G (p.Lys2021Arg)
c.5969A>G (p.Lys1990Arg)
n.6181A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11200719T>GCA404069707DOCK6c.6041A>C (p.Lys2014Thr)
c.5936A>C (p.Lys1979Thr)
n.839A>C
c.3801A>C
c.75+1170A>C (n.75+1170A>C)
c.6134A>C (p.Lys2045Thr)
c.3272A>C (p.Lys1091Thr)
c.6074A>C (p.Lys2025Thr)
c.6062A>C (p.Lys2021Thr)
c.5969A>C (p.Lys1990Thr)
n.6181A>C
19g.11200719T=CA2322816762DOCK6c.6041A= (p.Lys2014=)
c.5936A= (p.Lys1979=)
n.839A=
c.3801A=
c.75+1170A= (n.75+1170A=)
c.6134A= (p.Lys2045=)
c.3272A= (p.Lys1091=)
c.6074A= (p.Lys2025=)
c.6062A= (p.Lys2021=)
c.5969A= (p.Lys1990=)
n.6181A=
19g.11200720T>ACA404069710DOCK6c.6040A>T (p.Lys2014Ter)
c.5935A>T (p.Lys1979Ter)
n.838A>T
c.3800A>T
c.75+1169A>T (n.75+1169A>T)
c.6133A>T (p.Lys2045Ter)
c.3271A>T (p.Lys1091Ter)
c.6073A>T (p.Lys2025Ter)
c.6061A>T (p.Lys2021Ter)
c.5968A>T (p.Lys1990Ter)
n.6180A>T
19g.11200720T>CCA404069711DOCK6c.6040A>G (p.Lys2014Glu)
c.5935A>G (p.Lys1979Glu)
n.838A>G
c.3800A>G
c.75+1169A>G (n.75+1169A>G)
c.6133A>G (p.Lys2045Glu)
c.3271A>G (p.Lys1091Glu)
c.6073A>G (p.Lys2025Glu)
c.6061A>G (p.Lys2021Glu)
c.5968A>G (p.Lys1990Glu)
n.6180A>G
 gnomAD v4
19g.11200720T>GCA404069714DOCK6c.6040A>C (p.Lys2014Gln)
c.5935A>C (p.Lys1979Gln)
n.838A>C
c.3800A>C
c.75+1169A>C (n.75+1169A>C)
c.6133A>C (p.Lys2045Gln)
c.3271A>C (p.Lys1091Gln)
c.6073A>C (p.Lys2025Gln)
c.6061A>C (p.Lys2021Gln)
c.5968A>C (p.Lys1990Gln)
n.6180A>C
19g.11200721G>ACA505745660DOCK6c.6039C>T (p.Cys2013=)
c.5934C>T (p.Cys1978=)
n.837C>T
c.3799C>T
c.75+1168C>T (n.75+1168C>T)
c.6132C>T (p.Cys2044=)
c.3270C>T (p.Cys1090=)
c.6072C>T (p.Cys2024=)
c.6060C>T (p.Cys2020=)
c.5967C>T (p.Cys1989=)
n.6179C>T
19g.11200721G>CCA404069717DOCK6c.6039C>G (p.Cys2013Trp)
c.5934C>G (p.Cys1978Trp)
n.837C>G
c.3799C>G
c.75+1168C>G (n.75+1168C>G)
c.6132C>G (p.Cys2044Trp)
c.3270C>G (p.Cys1090Trp)
c.6072C>G (p.Cys2024Trp)
c.6060C>G (p.Cys2020Trp)
c.5967C>G (p.Cys1989Trp)
n.6179C>G
19g.11200721G=CA2322816763DOCK6c.6039C= (p.Cys2013=)
c.5934C= (p.Cys1978=)
n.837C=
c.3799C=
c.75+1168C= (n.75+1168C=)
c.6132C= (p.Cys2044=)
c.3270C= (p.Cys1090=)
c.6072C= (p.Cys2024=)
c.6060C= (p.Cys2020=)
c.5967C= (p.Cys1989=)
n.6179C=
19g.11200721G>TCA404069719DOCK6c.6039C>A (p.Cys2013Ter)
c.5934C>A (p.Cys1978Ter)
n.837C>A
c.3799C>A
c.75+1168C>A (n.75+1168C>A)
c.6132C>A (p.Cys2044Ter)
c.3270C>A (p.Cys1090Ter)
c.6072C>A (p.Cys2024Ter)
c.6060C>A (p.Cys2020Ter)
c.5967C>A (p.Cys1989Ter)
n.6179C>A
 dbSNP gnomAD v2 gnomAD v4
19g.11200722C>ACA404069722DOCK6c.6038G>T (p.Cys2013Phe)
c.5933G>T (p.Cys1978Phe)
n.836G>T
c.3798G>T
c.75+1167G>T (n.75+1167G>T)
c.6131G>T (p.Cys2044Phe)
c.3269G>T (p.Cys1090Phe)
c.6071G>T (p.Cys2024Phe)
c.6059G>T (p.Cys2020Phe)
c.5966G>T (p.Cys1989Phe)
n.6178G>T
 gnomAD v4
19g.11200722C=CA2322816764DOCK6c.6038G= (p.Cys2013=)
c.5933G= (p.Cys1978=)
n.836G=
c.3798G=
c.75+1167G= (n.75+1167G=)
c.6131G= (p.Cys2044=)
c.3269G= (p.Cys1090=)
c.6071G= (p.Cys2024=)
c.6059G= (p.Cys2020=)
c.5966G= (p.Cys1989=)
n.6178G=
19g.11200722C>GCA404069725DOCK6c.6038G>C (p.Cys2013Ser)
c.5933G>C (p.Cys1978Ser)
n.836G>C
c.3798G>C
c.75+1167G>C (n.75+1167G>C)
c.6131G>C (p.Cys2044Ser)
c.3269G>C (p.Cys1090Ser)
c.6071G>C (p.Cys2024Ser)
c.6059G>C (p.Cys2020Ser)
c.5966G>C (p.Cys1989Ser)
n.6178G>C
 gnomAD v4
19g.11200722C>TCA404069727DOCK6c.6038G>A (p.Cys2013Tyr)
c.5933G>A (p.Cys1978Tyr)
n.836G>A
c.3798G>A
c.75+1167G>A (n.75+1167G>A)
c.6131G>A (p.Cys2044Tyr)
c.3269G>A (p.Cys1090Tyr)
c.6071G>A (p.Cys2024Tyr)
c.6059G>A (p.Cys2020Tyr)
c.5966G>A (p.Cys1989Tyr)
n.6178G>A
 dbSNP gnomAD v4
19g.11200723A=CA2322816765DOCK6c.6037T= (p.Cys2013=)
c.5932T= (p.Cys1978=)
n.835T=
c.3797T=
c.75+1166T= (n.75+1166T=)
c.6130T= (p.Cys2044=)
c.3268T= (p.Cys1090=)
c.6070T= (p.Cys2024=)
c.6058T= (p.Cys2020=)
c.5965T= (p.Cys1989=)
n.6177T=
19g.11200723A>CCA404069731DOCK6c.6037T>G (p.Cys2013Gly)
c.5932T>G (p.Cys1978Gly)
n.835T>G
c.3797T>G
c.75+1166T>G (n.75+1166T>G)
c.6130T>G (p.Cys2044Gly)
c.3268T>G (p.Cys1090Gly)
c.6070T>G (p.Cys2024Gly)
c.6058T>G (p.Cys2020Gly)
c.5965T>G (p.Cys1989Gly)
n.6177T>G
 gnomAD v4
19g.11200723A>GCA9206296DOCK6c.6037T>C (p.Cys2013Arg)
c.5932T>C (p.Cys1978Arg)
n.835T>C
c.3797T>C
c.75+1166T>C (n.75+1166T>C)
c.6130T>C (p.Cys2044Arg)
c.3268T>C (p.Cys1090Arg)
c.6070T>C (p.Cys2024Arg)
c.6058T>C (p.Cys2020Arg)
c.5965T>C (p.Cys1989Arg)
n.6177T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11200723A>TCA404069733DOCK6c.6037T>A (p.Cys2013Ser)
c.5932T>A (p.Cys1978Ser)
n.835T>A
c.3797T>A
c.75+1166T>A (n.75+1166T>A)
c.6130T>A (p.Cys2044Ser)
c.3268T>A (p.Cys1090Ser)
c.6070T>A (p.Cys2024Ser)
c.6058T>A (p.Cys2020Ser)
c.5965T>A (p.Cys1989Ser)
n.6177T>A
19g.11200724G>ACA505745664DOCK6c.6036C>T (p.Phe2012=)
c.5931C>T (p.Phe1977=)
n.834C>T
c.3796C>T
c.75+1165C>T (n.75+1165C>T)
c.6129C>T (p.Phe2043=)
c.3267C>T (p.Phe1089=)
c.6069C>T (p.Phe2023=)
c.6057C>T (p.Phe2019=)
c.5964C>T (p.Phe1988=)
n.6176C>T
19g.11200724G>CCA404069740DOCK6c.6036C>G (p.Phe2012Leu)
c.5931C>G (p.Phe1977Leu)
n.834C>G
c.3796C>G
c.75+1165C>G (n.75+1165C>G)
c.6129C>G (p.Phe2043Leu)
c.3267C>G (p.Phe1089Leu)
c.6069C>G (p.Phe2023Leu)
c.6057C>G (p.Phe2019Leu)
c.5964C>G (p.Phe1988Leu)
n.6176C>G
19g.11200724G>TCA404069742DOCK6c.6036C>A (p.Phe2012Leu)
c.5931C>A (p.Phe1977Leu)
n.834C>A
c.3796C>A
c.75+1165C>A (n.75+1165C>A)
c.6129C>A (p.Phe2043Leu)
c.3267C>A (p.Phe1089Leu)
c.6069C>A (p.Phe2023Leu)
c.6057C>A (p.Phe2019Leu)
c.5964C>A (p.Phe1988Leu)
n.6176C>A
19g.11200725A=CA2322816766DOCK6c.6035T= (p.Phe2012=)
c.5930T= (p.Phe1977=)
n.833T=
c.3795T=
c.75+1164T= (n.75+1164T=)
c.6128T= (p.Phe2043=)
c.3266T= (p.Phe1089=)
c.6068T= (p.Phe2023=)
c.6056T= (p.Phe2019=)
c.5963T= (p.Phe1988=)
n.6175T=
19g.11200725A>CCA9206297DOCK6c.6035T>G (p.Phe2012Cys)
c.5930T>G (p.Phe1977Cys)
n.833T>G
c.3795T>G
c.75+1164T>G (n.75+1164T>G)
c.6128T>G (p.Phe2043Cys)
c.3266T>G (p.Phe1089Cys)
c.6068T>G (p.Phe2023Cys)
c.6056T>G (p.Phe2019Cys)
c.5963T>G (p.Phe1988Cys)
n.6175T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched