Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11200714A= | CA2322816759 | DOCK6 | c.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= | |
19 | g.11200714A>C | CA404069669 | DOCK6 | c.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 |
19 | g.11200714A>G | CA9206295 | DOCK6 | c.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 |
19 | g.11200714A>T | CA404069674 | DOCK6 | c.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 | |
19 | g.11200715C>A | CA404069677 | DOCK6 | c.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 | |
19 | g.11200715C>G | CA404069679 | DOCK6 | c.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 | |
19 | g.11200715C>T | CA404069681 | DOCK6 | c.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 |
19 | g.11200718_11200720del | CA2582489597 | DOCK6 | c.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 |
19 | g.11200716T>A | CA404069685 | DOCK6 | c.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 | |
19 | g.11200716T>C | CA305301856 | DOCK6 | c.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 |
19 | g.11200716T>G | CA404069688 | DOCK6 | c.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 | |
19 | g.11200716T= | CA2322816760 | DOCK6 | c.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= | |
19 | g.11200717T>A | CA404069695 | DOCK6 | c.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 | |
19 | g.11200717T>C | CA404069697 | DOCK6 | c.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 |
19 | g.11200717T>G | CA404069693 | DOCK6 | c.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 | |
19 | g.11200718C>A | CA404069701 | DOCK6 | c.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 | |
19 | g.11200718C= | CA2322816761 | DOCK6 | c.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= | |
19 | g.11200718C>G | CA404069700 | DOCK6 | c.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 | |
19 | g.11200718C>T | CA505745656 | DOCK6 | c.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 |
19 | g.11200719T>A | CA404069709 | DOCK6 | c.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 | |
19 | g.11200719T>C | CA404069705 | DOCK6 | c.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 |
19 | g.11200719T>G | CA404069707 | DOCK6 | c.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 | |
19 | g.11200719T= | CA2322816762 | DOCK6 | c.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= | |
19 | g.11200720T>A | CA404069710 | DOCK6 | c.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 | |
19 | g.11200720T>C | CA404069711 | DOCK6 | c.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 |
19 | g.11200720T>G | CA404069714 | DOCK6 | c.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 | |
19 | g.11200721G>A | CA505745660 | DOCK6 | c.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 | |
19 | g.11200721G>C | CA404069717 | DOCK6 | c.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 | |
19 | g.11200721G= | CA2322816763 | DOCK6 | c.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= | |
19 | g.11200721G>T | CA404069719 | DOCK6 | c.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 |
19 | g.11200722C>A | CA404069722 | DOCK6 | c.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 |
19 | g.11200722C= | CA2322816764 | DOCK6 | c.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= | |
19 | g.11200722C>G | CA404069725 | DOCK6 | c.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 |
19 | g.11200722C>T | CA404069727 | DOCK6 | c.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 |
19 | g.11200723A= | CA2322816765 | DOCK6 | c.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= | |
19 | g.11200723A>C | CA404069731 | DOCK6 | c.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 |
19 | g.11200723A>G | CA9206296 | DOCK6 | c.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 |
19 | g.11200723A>T | CA404069733 | DOCK6 | c.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 | |
19 | g.11200724G>A | CA505745664 | DOCK6 | c.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 | |
19 | g.11200724G>C | CA404069740 | DOCK6 | c.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 | |
19 | g.11200724G>T | CA404069742 | DOCK6 | c.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 | |
19 | g.11200725A= | CA2322816766 | DOCK6 | c.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= | |
19 | g.11200725A>C | CA9206297 | DOCK6 | c.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 |
19 | g.11200725A>G | CA404069747 | DOCK6 | c.6035T>C (p.Phe2012Ser) c.5930T>C (p.Phe1977Ser) n.833T>C c.3795T>C c.75+1164T>C (n.75+1164T>C) c.6128T>C (p.Phe2043Ser) c.3266T>C (p.Phe1089Ser) c.6068T>C (p.Phe2023Ser) c.6056T>C (p.Phe2019Ser) c.5963T>C (p.Phe1988Ser) n.6175T>C | |
19 | g.11200725A>T | CA404069750 | DOCK6 | c.6035T>A (p.Phe2012Tyr) c.5930T>A (p.Phe1977Tyr) n.833T>A c.3795T>A c.75+1164T>A (n.75+1164T>A) c.6128T>A (p.Phe2043Tyr) c.3266T>A (p.Phe1089Tyr) c.6068T>A (p.Phe2023Tyr) c.6056T>A (p.Phe2019Tyr) c.5963T>A (p.Phe1988Tyr) n.6175T>A | |
19 | g.11200726A>C | CA404069752 | DOCK6 | c.6034T>G (p.Phe2012Val) c.5929T>G (p.Phe1977Val) n.832T>G c.3794T>G c.75+1163T>G (n.75+1163T>G) c.6127T>G (p.Phe2043Val) c.3265T>G (p.Phe1089Val) c.6067T>G (p.Phe2023Val) c.6055T>G (p.Phe2019Val) c.5962T>G (p.Phe1988Val) n.6174T>G | |
19 | g.11200726A>G | CA404069753 | DOCK6 | c.6034T>C (p.Phe2012Leu) c.5929T>C (p.Phe1977Leu) n.832T>C c.3794T>C c.75+1163T>C (n.75+1163T>C) c.6127T>C (p.Phe2043Leu) c.3265T>C (p.Phe1089Leu) c.6067T>C (p.Phe2023Leu) c.6055T>C (p.Phe2019Leu) c.5962T>C (p.Phe1988Leu) n.6174T>C | |
19 | g.11200726A>T | CA404069754 | DOCK6 | c.6034T>A (p.Phe2012Ile) c.5929T>A (p.Phe1977Ile) n.832T>A c.3794T>A c.75+1163T>A (n.75+1163T>A) c.6127T>A (p.Phe2043Ile) c.3265T>A (p.Phe1089Ile) c.6067T>A (p.Phe2023Ile) c.6055T>A (p.Phe2019Ile) c.5962T>A (p.Phe1988Ile) n.6174T>A | |
19 | g.11200727G>A | CA505745667 | DOCK6 | c.6033C>T (p.Asp2011=) c.5928C>T (p.Asp1976=) n.831C>T c.3793C>T c.75+1162C>T (n.75+1162C>T) c.6126C>T (p.Asp2042=) c.3264C>T (p.Asp1088=) c.6066C>T (p.Asp2022=) c.6054C>T (p.Asp2018=) c.5961C>T (p.Asp1987=) n.6173C>T | gnomAD v3 gnomAD v4 |
19 | g.11200727G>C | CA404069755 | DOCK6 | c.6033C>G (p.Asp2011Glu) c.5928C>G (p.Asp1976Glu) n.831C>G c.3793C>G c.75+1162C>G (n.75+1162C>G) c.6126C>G (p.Asp2042Glu) c.3264C>G (p.Asp1088Glu) c.6066C>G (p.Asp2022Glu) c.6054C>G (p.Asp2018Glu) c.5961C>G (p.Asp1987Glu) n.6173C>G |