Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.15999853_15999877delinsTCCGGCTCCTGAGCTGGAGCCTGGG | CA2249814948 | TTC19 | c.5_29delinsTCCGGCTCCTGAGCTGGAGCCTGGG (p.Phe2=) c.70_94delinsTCCGGCTCCTGAGCTGGAGCCTGGG c.20_44delinsTCCGGCTCCTGAGCTGGAGCCTGGG (p.Phe7=) c.52_76delinsTCCGGCTCCTGAGCTGGAGCCTGGG n.30_54delinsTCCGGCTCCTGAGCTGGAGCCTGGG c.-454_-430delinsTCCGGCTCCTGAGCTGGAGCCTGGG (n.-454_-430delinsTCCGGCTCCTGAGCTGGAGCCTGGG) | |
17 | g.15999857_15999880del | CA8407233 | TTC19 | c.9_32del (p.Leu4_Arg11del) c.74_97del c.24_47del (p.Leu9_Arg16del) c.56_79del n.34_57del c.-450_-427del (n.-450_-427del) | dbSNP ExAC gnomAD v4 |
17 | g.15999860_15999863delinsCCTG | CA2249814955 | TTC19 | c.12_15delinsCCTG (p.Leu4=) c.77_80delinsCCTG c.27_30delinsCCTG (p.Leu9=) c.59_62delinsCCTG n.37_40delinsCCTG c.-447_-444delinsCCTG (n.-447_-444delinsCCTG) | |
17 | g.15999861C>A | CA398381856 | TTC19 | c.13C>A (p.Leu5Met) c.78C>A c.28C>A (p.Leu10Met) c.60C>A n.38C>A c.-446C>A (n.-446C>A) | |
17 | g.15999861C>G | CA398381858 | TTC19 | c.13C>G (p.Leu5Val) c.78C>G c.28C>G (p.Leu10Val) c.60C>G n.38C>G c.-446C>G (n.-446C>G) | |
17 | g.15999861C>T | CA498414285 | TTC19 | c.13C>T (p.Leu5=) c.78C>T c.28C>T (p.Leu10=) c.60C>T n.38C>T c.-446C>T (n.-446C>T) | gnomAD v4 |
17 | g.15999861_15999863del | CA919799546 | TTC19 | c.13_15del (p.Leu5del) c.78_80del c.28_30del (p.Leu10del) c.60_62del n.38_40del c.-446_-444del (n.-446_-444del) | dbSNP |
17 | g.15999862T>A | CA398381860 | TTC19 | c.14T>A (p.Leu5Gln) c.79T>A c.29T>A (p.Leu10Gln) c.61T>A n.39T>A c.-445T>A (n.-445T>A) | |
17 | g.15999862T>C | CA398381865 | TTC19 | c.14T>C (p.Leu5Pro) c.79T>C c.29T>C (p.Leu10Pro) c.61T>C n.39T>C c.-445T>C (n.-445T>C) | dbSNP gnomAD v4 |
17 | g.15999862T>G | CA398381872 | TTC19 | c.14T>G (p.Leu5Arg) c.79T>G c.29T>G (p.Leu10Arg) c.61T>G n.39T>G c.-445T>G (n.-445T>G) | |
17 | g.15999862T= | CA2249814956 | TTC19 | c.14T= (p.Leu5=) c.79T= c.29T= (p.Leu10=) c.61T= n.39T= c.-445T= (n.-445T=) | |
17 | g.15999863G>A | CA288187832 | TTC19 | c.15G>A (p.Leu5=) c.80G>A c.30G>A (p.Leu10=) c.62G>A n.40G>A c.-444G>A (n.-444G>A) | dbSNP gnomAD v4 |
17 | g.15999863G>C | CA498414286 | TTC19 | c.15G>C (p.Leu5=) c.80G>C c.30G>C (p.Leu10=) c.62G>C n.40G>C c.-444G>C (n.-444G>C) | |
17 | g.15999863G= | CA2249814957 | TTC19 | c.15G= (p.Leu5=) c.80G= c.30G= (p.Leu10=) c.62G= n.40G= c.-444G= (n.-444G=) | |
17 | g.15999863G>T | CA498414287 | TTC19 | c.15G>T (p.Leu5=) c.80G>T c.30G>T (p.Leu10=) c.62G>T n.40G>T c.-444G>T (n.-444G>T) | gnomAD v4 |
17 | g.15999864A>C | CA398381875 | TTC19 | c.16A>C (p.Ser6Arg) c.81A>C c.31A>C (p.Ser11Arg) c.63A>C n.41A>C c.-443A>C (n.-443A>C) | |
17 | g.15999864A>G | CA398381879 | TTC19 | c.16A>G (p.Ser6Gly) c.81A>G c.31A>G (p.Ser11Gly) c.63A>G n.41A>G c.-443A>G (n.-443A>G) | gnomAD v4 |
17 | g.15999864A>T | CA398381880 | TTC19 | c.16A>T (p.Ser6Cys) c.81A>T c.31A>T (p.Ser11Cys) c.63A>T n.41A>T c.-443A>T (n.-443A>T) | gnomAD v4 |
17 | g.15999864_15999867delinsAGCT | CA2249814958 | TTC19 | c.16_19delinsAGCT (p.Ser6=) c.81_84delinsAGCT c.31_34delinsAGCT (p.Ser11=) c.63_66delinsAGCT n.41_44delinsAGCT c.-443_-440delinsAGCT (n.-443_-440delinsAGCT) | |
17 | g.15999865G>A | CA398381884 | TTC19 | c.17G>A (p.Ser6Asn) c.82G>A c.32G>A (p.Ser11Asn) c.64G>A n.42G>A c.-442G>A (n.-442G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.15999865G>C | CA398381890 | TTC19 | c.17G>C (p.Ser6Thr) c.82G>C c.32G>C (p.Ser11Thr) c.64G>C n.42G>C c.-442G>C (n.-442G>C) | |
17 | g.15999865G= | CA2249814959 | TTC19 | c.17G= (p.Ser6=) c.82G= c.32G= (p.Ser11=) c.64G= n.42G= c.-442G= (n.-442G=) | |
17 | g.15999865G>T | CA398381893 | TTC19 | c.17G>T (p.Ser6Ile) c.82G>T c.32G>T (p.Ser11Ile) c.64G>T n.42G>T c.-442G>T (n.-442G>T) | gnomAD v4 |
17 | g.15999866_15999868del | CA919799548 | TTC19 | c.18_20del (p.Ser6_Trp7delinsArg) c.83_85del c.33_35del (p.Ser11_Trp12delinsArg) c.65_67del n.43_45del c.-441_-439del (n.-441_-439del) | dbSNP |
17 | g.15999866C>A | CA398381898 | TTC19 | c.18C>A (p.Ser6Arg) c.83C>A c.33C>A (p.Ser11Arg) c.65C>A n.43C>A c.-441C>A (n.-441C>A) | gnomAD v4 |
17 | g.15999866C= | CA2249814960 | TTC19 | c.18C= (p.Ser6=) c.83C= c.33C= (p.Ser11=) c.65C= n.43C= c.-441C= (n.-441C=) | |
17 | g.15999866C>G | CA398381900 | TTC19 | c.18C>G (p.Ser6Arg) c.83C>G c.33C>G (p.Ser11Arg) c.65C>G n.43C>G c.-441C>G (n.-441C>G) | dbSNP gnomAD v4 |
17 | g.15999866C>T | CA498414288 | TTC19 | c.18C>T (p.Ser6=) c.83C>T c.33C>T (p.Ser11=) c.65C>T n.43C>T c.-441C>T (n.-441C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.15999867T>A | CA398381901 | TTC19 | c.19T>A (p.Trp7Arg) c.84T>A c.34T>A (p.Trp12Arg) c.66T>A n.44T>A c.-440T>A (n.-440T>A) | |
17 | g.15999867T>C | CA398381908 | TTC19 | c.19T>C (p.Trp7Arg) c.84T>C c.34T>C (p.Trp12Arg) c.66T>C n.44T>C c.-440T>C (n.-440T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999867T>G | CA398381906 | TTC19 | c.19T>G (p.Trp7Gly) c.84T>G c.34T>G (p.Trp12Gly) c.66T>G n.44T>G c.-440T>G (n.-440T>G) | |
17 | g.15999867T= | CA2249814961 | TTC19 | c.19T= (p.Trp7=) c.84T= c.34T= (p.Trp12=) c.66T= n.44T= c.-440T= (n.-440T=) | |
17 | g.15999868G>A | CA398381910 | TTC19 | c.20G>A (p.Trp7Ter) c.85G>A c.35G>A (p.Trp12Ter) c.67G>A n.45G>A c.-439G>A (n.-439G>A) | gnomAD v4 |
17 | g.15999868G>C | CA398381912 | TTC19 | c.20G>C (p.Trp7Ser) c.85G>C c.35G>C (p.Trp12Ser) c.67G>C n.45G>C c.-439G>C (n.-439G>C) | |
17 | g.15999868G>T | CA398381913 | TTC19 | c.20G>T (p.Trp7Leu) c.85G>T c.35G>T (p.Trp12Leu) c.67G>T n.45G>T c.-439G>T (n.-439G>T) | |
17 | g.15999869G>A | CA398381915 | TTC19 | c.21G>A (p.Trp7Ter) c.86G>A c.36G>A (p.Trp12Ter) c.68G>A n.46G>A c.-438G>A (n.-438G>A) | gnomAD v4 |
17 | g.15999869G>C | CA398381916 | TTC19 | c.21G>C (p.Trp7Cys) c.86G>C c.36G>C (p.Trp12Cys) c.68G>C n.46G>C c.-438G>C (n.-438G>C) | |
17 | g.15999869G= | CA2249814962 | TTC19 | c.21G= (p.Trp7=) c.86G= c.36G= (p.Trp12=) c.68G= n.46G= c.-438G= (n.-438G=) | |
17 | g.15999869G>T | CA398381919 | TTC19 | c.21G>T (p.Trp7Cys) c.86G>T c.36G>T (p.Trp12Cys) c.68G>T n.46G>T c.-438G>T (n.-438G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.15999870A>C | CA398381927 | TTC19 | c.22A>C (p.Ser8Arg) c.87A>C c.37A>C (p.Ser13Arg) c.69A>C n.47A>C c.-437A>C (n.-437A>C) | |
17 | g.15999870A>G | CA398381929 | TTC19 | c.22A>G (p.Ser8Gly) c.87A>G c.37A>G (p.Ser13Gly) c.69A>G n.47A>G c.-437A>G (n.-437A>G) | gnomAD v4 |
17 | g.15999870A>T | CA398381932 | TTC19 | c.22A>T (p.Ser8Cys) c.87A>T c.37A>T (p.Ser13Cys) c.69A>T n.47A>T c.-437A>T (n.-437A>T) | |
17 | g.15999871G>A | CA8407234 | TTC19 | c.23G>A (p.Ser8Asn) c.88G>A c.38G>A (p.Ser13Asn) c.70G>A n.48G>A c.-436G>A (n.-436G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.15999871G>C | CA320090 | TTC19 | c.23G>C (p.Ser8Thr) c.88G>C c.38G>C (p.Ser13Thr) c.70G>C n.48G>C c.-436G>C (n.-436G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999871G= | CA2249814963 | TTC19 | c.23G= (p.Ser8=) c.88G= c.38G= (p.Ser13=) c.70G= n.48G= c.-436G= (n.-436G=) | |
17 | g.15999871G>T | CA398381937 | TTC19 | c.23G>T (p.Ser8Ile) c.88G>T c.38G>T (p.Ser13Ile) c.70G>T n.48G>T c.-436G>T (n.-436G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999872C>A | CA398381948 | TTC19 | c.24C>A (p.Ser8Arg) c.89C>A c.39C>A (p.Ser13Arg) c.71C>A n.49C>A c.-435C>A (n.-435C>A) | gnomAD v4 |
17 | g.15999872C= | CA2249814964 | TTC19 | c.24C= (p.Ser8=) c.89C= c.39C= (p.Ser13=) c.71C= n.49C= c.-435C= (n.-435C=) | |
17 | g.15999872C>G | CA398381951 | TTC19 | c.24C>G (p.Ser8Arg) c.89C>G c.39C>G (p.Ser13Arg) c.71C>G n.49C>G c.-435C>G (n.-435C>G) | gnomAD v4 |
17 | g.15999872C>T | CA8407235 | TTC19 | c.24C>T (p.Ser8=) c.89C>T c.39C>T (p.Ser13=) c.71C>T n.49C>T c.-435C>T (n.-435C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999873C>A | CA398381952 | TTC19 | c.25C>A (p.Leu9Met) c.90C>A c.40C>A (p.Leu14Met) c.72C>A n.50C>A c.-434C>A (n.-434C>A) | gnomAD v4 |
17 | g.15999873C= | CA2249814965 | TTC19 | c.25C= (p.Leu9=) c.90C= c.40C= (p.Leu14=) c.72C= n.50C= c.-434C= (n.-434C=) | |
17 | g.15999873C>G | CA398381953 | TTC19 | c.25C>G (p.Leu9Val) c.90C>G c.40C>G (p.Leu14Val) c.72C>G n.50C>G c.-434C>G (n.-434C>G) | gnomAD v4 |
17 | g.15999873C>T | CA10649539 | TTC19 | c.25C>T (p.Leu9=) c.90C>T c.40C>T (p.Leu14=) c.72C>T n.50C>T c.-434C>T (n.-434C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999874T>A | CA398381955 | TTC19 | c.26T>A (p.Leu9Gln) c.91T>A c.41T>A (p.Leu14Gln) c.73T>A n.51T>A c.-433T>A (n.-433T>A) | gnomAD v4 |
17 | g.15999874T>C | CA398381958 | TTC19 | c.26T>C (p.Leu9Pro) c.91T>C c.41T>C (p.Leu14Pro) c.73T>C n.51T>C c.-433T>C (n.-433T>C) | gnomAD v4 |
17 | g.15999874T>G | CA398381961 | TTC19 | c.26T>G (p.Leu9Arg) c.91T>G c.41T>G (p.Leu14Arg) c.73T>G n.51T>G c.-433T>G (n.-433T>G) | |
17 | g.15999875G>A | CA498414290 | TTC19 | c.27G>A (p.Leu9=) c.92G>A c.42G>A (p.Leu14=) c.74G>A n.52G>A c.-432G>A (n.-432G>A) | |
17 | g.15999875G>C | CA8407236 | TTC19 | c.27G>C (p.Leu9=) c.92G>C c.42G>C (p.Leu14=) c.74G>C n.52G>C c.-432G>C (n.-432G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999875G= | CA2249814966 | TTC19 | c.27G= (p.Leu9=) c.92G= c.42G= (p.Leu14=) c.74G= n.52G= c.-432G= (n.-432G=) | |
17 | g.15999875G>T | CA498414289 | TTC19 | c.27G>T (p.Leu9=) c.92G>T c.42G>T (p.Leu14=) c.74G>T n.52G>T c.-432G>T (n.-432G>T) | gnomAD v4 |
17 | g.15999876G>A | CA398381964 | TTC19 | c.28G>A (p.Gly10Ser) c.93G>A c.43G>A (p.Gly15Ser) c.75G>A n.53G>A c.-431G>A (n.-431G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.15999876G>C | CA398381967 | TTC19 | c.28G>C (p.Gly10Arg) c.93G>C c.43G>C (p.Gly15Arg) c.75G>C n.53G>C c.-431G>C (n.-431G>C) | |
17 | g.15999876G= | CA2249814967 | TTC19 | c.28G= (p.Gly10=) c.93G= c.43G= (p.Gly15=) c.75G= n.53G= c.-431G= (n.-431G=) | |
17 | g.15999876G>T | CA398381970 | TTC19 | c.28G>T (p.Gly10Cys) c.93G>T c.43G>T (p.Gly15Cys) c.75G>T n.53G>T c.-431G>T (n.-431G>T) | gnomAD v4 |
17 | g.15999877G>A | CA398381999 | TTC19 | c.29G>A (p.Gly10Asp) c.94G>A c.44G>A (p.Gly15Asp) c.76G>A n.54G>A c.-430G>A (n.-430G>A) | gnomAD v4 |
17 | g.15999877G>C | CA398381993 | TTC19 | c.29G>C (p.Gly10Ala) c.94G>C c.44G>C (p.Gly15Ala) c.76G>C n.54G>C c.-430G>C (n.-430G>C) | |
17 | g.15999877G>T | CA398381996 | TTC19 | c.29G>T (p.Gly10Val) c.94G>T c.44G>T (p.Gly15Val) c.76G>T n.54G>T c.-430G>T (n.-430G>T) | gnomAD v4 |
17 | g.15999878C>A | CA498414291 | TTC19 | c.30C>A (p.Gly10=) c.95C>A c.45C>A (p.Gly15=) c.77C>A n.55C>A c.-429C>A (n.-429C>A) | gnomAD v4 |
17 | g.15999878C>G | CA498414293 | TTC19 | c.30C>G (p.Gly10=) c.95C>G c.45C>G (p.Gly15=) c.77C>G n.55C>G c.-429C>G (n.-429C>G) | |
17 | g.15999878C>T | CA498414292 | TTC19 | c.30C>T (p.Gly10=) c.95C>T c.45C>T (p.Gly15=) c.77C>T n.55C>T c.-429C>T (n.-429C>T) | gnomAD v4 |
17 | g.15999879C>A | CA498414294 | TTC19 | c.31C>A (p.Arg11=) c.96C>A c.46C>A (p.Arg16=) c.78C>A n.56C>A c.-428C>A (n.-428C>A) | gnomAD v4 |
17 | g.15999879C= | CA2249814968 | TTC19 | c.31C= (p.Arg11=) c.96C= c.46C= (p.Arg16=) c.78C= n.56C= c.-428C= (n.-428C=) | |
17 | g.15999879C>G | CA398382006 | TTC19 | c.31C>G (p.Arg11Gly) c.96C>G c.46C>G (p.Arg16Gly) c.78C>G n.56C>G c.-428C>G (n.-428C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.15999879C>T | CA398382008 | TTC19 | c.31C>T (p.Arg11Ter) c.96C>T c.46C>T (p.Arg16Ter) c.78C>T n.56C>T c.-428C>T (n.-428C>T) | dbSNP gnomAD v4 |
17 | g.15999880G>A | CA398382012 | TTC19 | c.32G>A (p.Arg11Gln) c.97G>A c.47G>A (p.Arg16Gln) c.79G>A n.57G>A c.-427G>A (n.-427G>A) | gnomAD v4 |
17 | g.15999880G>C | CA398382015 | TTC19 | c.32G>C (p.Arg11Pro) c.97G>C c.47G>C (p.Arg16Pro) c.79G>C n.57G>C c.-427G>C (n.-427G>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.15999880G= | CA2249814969 | TTC19 | c.32G= (p.Arg11=) c.97G= c.47G= (p.Arg16=) c.79G= n.57G= c.-427G= (n.-427G=) | |
17 | g.15999880G>T | CA398382021 | TTC19 | c.32G>T (p.Arg11Leu) c.97G>T c.47G>T (p.Arg16Leu) c.79G>T n.57G>T c.-427G>T (n.-427G>T) | |
17 | g.15999881A>C | CA498414295 | TTC19 | c.33A>C (p.Arg11=) c.98A>C c.48A>C (p.Arg16=) c.80A>C n.58A>C c.-426A>C (n.-426A>C) | |
17 | g.15999881A>G | CA498414296 | TTC19 | c.33A>G (p.Arg11=) c.98A>G c.48A>G (p.Arg16=) c.80A>G n.58A>G c.-426A>G (n.-426A>G) | gnomAD v4 |
17 | g.15999881A>T | CA498414297 | TTC19 | c.33A>T (p.Arg11=) c.98A>T c.48A>T (p.Arg16=) c.80A>T n.58A>T c.-426A>T (n.-426A>T) | |
17 | g.15999882G>A | CA398382023 | TTC19 | c.34G>A (p.Gly12Ser) c.99G>A c.49G>A (p.Gly17Ser) c.81G>A n.59G>A c.-425G>A (n.-425G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999882G>C | CA398382025 | TTC19 | c.34G>C (p.Gly12Arg) c.99G>C c.49G>C (p.Gly17Arg) c.81G>C n.59G>C c.-425G>C (n.-425G>C) | |
17 | g.15999882G= | CA2249814970 | TTC19 | c.34G= (p.Gly12=) c.99G= c.49G= (p.Gly17=) c.81G= n.59G= c.-425G= (n.-425G=) | |
17 | g.15999882G>T | CA398382027 | TTC19 | c.34G>T (p.Gly12Cys) c.99G>T c.49G>T (p.Gly17Cys) c.81G>T n.59G>T c.-425G>T (n.-425G>T) | |
17 | g.15999883G>A | CA398382034 | TTC19 | c.35G>A (p.Gly12Asp) c.100G>A c.50G>A (p.Gly17Asp) c.82G>A n.60G>A c.-424G>A (n.-424G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999883G>C | CA398382036 | TTC19 | c.35G>C (p.Gly12Ala) c.100G>C c.50G>C (p.Gly17Ala) c.82G>C n.60G>C c.-424G>C (n.-424G>C) | gnomAD v4 |
17 | g.15999883G= | CA2249814971 | TTC19 | c.35G= (p.Gly12=) c.100G= c.50G= (p.Gly17=) c.82G= n.60G= c.-424G= (n.-424G=) | |
17 | g.15999883G>T | CA398382040 | TTC19 | c.35G>T (p.Gly12Val) c.100G>T c.50G>T (p.Gly17Val) c.82G>T n.60G>T c.-424G>T (n.-424G>T) | gnomAD v4 |
17 | g.15999884C>A | CA498414298 | TTC19 | c.36C>A (p.Gly12=) c.101C>A c.51C>A (p.Gly17=) c.83C>A n.61C>A c.-423C>A (n.-423C>A) | gnomAD v4 |
17 | g.15999884C>G | CA498414299 | TTC19 | c.36C>G (p.Gly12=) c.101C>G c.51C>G (p.Gly17=) c.83C>G n.61C>G c.-423C>G (n.-423C>G) | |
17 | g.15999884C>T | CA498414300 | TTC19 | c.36C>T (p.Gly12=) c.101C>T c.51C>T (p.Gly17=) c.83C>T n.61C>T c.-423C>T (n.-423C>T) | |
17 | g.15999885T>A | CA398382059 | TTC19 | c.37T>A (p.Phe13Ile) c.102T>A c.52T>A (p.Phe18Ile) c.84T>A n.62T>A c.-422T>A (n.-422T>A) | |
17 | g.15999885T>C | CA398382056 | TTC19 | c.37T>C (p.Phe13Leu) c.102T>C c.52T>C (p.Phe18Leu) c.84T>C n.62T>C c.-422T>C (n.-422T>C) | gnomAD v4 |
17 | g.15999885T>G | CA398382046 | TTC19 | c.37T>G (p.Phe13Val) c.102T>G c.52T>G (p.Phe18Val) c.84T>G n.62T>G c.-422T>G (n.-422T>G) | gnomAD v4 |
17 | g.15999886T>A | CA398382063 | TTC19 | c.38T>A (p.Phe13Tyr) c.103T>A c.53T>A (p.Phe18Tyr) c.85T>A n.63T>A c.-421T>A (n.-421T>A) | |
17 | g.15999886T>C | CA398382065 | TTC19 | c.38T>C (p.Phe13Ser) c.103T>C c.53T>C (p.Phe18Ser) c.85T>C n.63T>C c.-421T>C (n.-421T>C) | gnomAD v4 |
17 | g.15999886T>G | CA398382067 | TTC19 | c.38T>G (p.Phe13Cys) c.103T>G c.53T>G (p.Phe18Cys) c.85T>G n.63T>G c.-421T>G (n.-421T>G) | ClinVar gnomAD v4 |
17 | g.15999887C>A | CA398382070 | TTC19 | c.39C>A (p.Phe13Leu) c.104C>A c.54C>A (p.Phe18Leu) c.86C>A n.64C>A c.-420C>A (n.-420C>A) | gnomAD v4 |
17 | g.15999887C= | CA2249814972 | TTC19 | c.39C= (p.Phe13=) c.104C= c.54C= (p.Phe18=) c.86C= n.64C= c.-420C= (n.-420C=) | |
17 | g.15999887C>G | CA398382071 | TTC19 | c.39C>G (p.Phe13Leu) c.104C>G c.54C>G (p.Phe18Leu) c.86C>G n.64C>G c.-420C>G (n.-420C>G) | |
17 | g.15999887C>T | CA498414301 | TTC19 | c.39C>T (p.Phe13=) c.104C>T c.54C>T (p.Phe18=) c.86C>T n.64C>T c.-420C>T (n.-420C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.15999888C>A | CA398382074 | TTC19 | c.40C>A (p.Leu14Met) c.105C>A c.55C>A (p.Leu19Met) c.87C>A n.65C>A c.-419C>A (n.-419C>A) | gnomAD v4 |
17 | g.15999888C= | CA2249814973 | TTC19 | c.40C= (p.Leu14=) c.105C= c.55C= (p.Leu19=) c.87C= n.65C= c.-419C= (n.-419C=) | |
17 | g.15999888C>G | CA398382077 | TTC19 | c.40C>G (p.Leu14Val) c.105C>G c.55C>G (p.Leu19Val) c.87C>G n.65C>G c.-419C>G (n.-419C>G) | |
17 | g.15999888C>T | CA498414302 | TTC19 | c.40C>T (p.Leu14=) c.105C>T c.55C>T (p.Leu19=) c.87C>T n.65C>T c.-419C>T (n.-419C>T) | dbSNP gnomAD v4 |
17 | g.15999889T>A | CA398382081 | TTC19 | c.41T>A (p.Leu14Gln) c.106T>A c.56T>A (p.Leu19Gln) c.88T>A n.66T>A c.-418T>A (n.-418T>A) | |
17 | g.15999889T>C | CA398382079 | TTC19 | c.41T>C (p.Leu14Pro) c.106T>C c.56T>C (p.Leu19Pro) c.88T>C n.66T>C c.-418T>C (n.-418T>C) | dbSNP gnomAD v4 |
17 | g.15999889T>G | CA398382080 | TTC19 | c.41T>G (p.Leu14Arg) c.106T>G c.56T>G (p.Leu19Arg) c.88T>G n.66T>G c.-418T>G (n.-418T>G) | gnomAD v4 |
17 | g.15999889T= | CA2249814974 | TTC19 | c.41T= (p.Leu14=) c.106T= c.56T= (p.Leu19=) c.88T= n.66T= c.-418T= (n.-418T=) | |
17 | g.15999890G>A | CA498414303 | TTC19 | c.42G>A (p.Leu14=) c.107G>A c.57G>A (p.Leu19=) c.89G>A n.67G>A c.-417G>A (n.-417G>A) | |
17 | g.15999890G>C | CA498414304 | TTC19 | c.42G>C (p.Leu14=) c.107G>C c.57G>C (p.Leu19=) c.89G>C n.67G>C c.-417G>C (n.-417G>C) | |
17 | g.15999890G>T | CA498414305 | TTC19 | c.42G>T (p.Leu14=) c.107G>T c.57G>T (p.Leu19=) c.89G>T n.67G>T c.-417G>T (n.-417G>T) | |
17 | g.15999891C>A | CA498414306 | TTC19 | c.43C>A (p.Arg15=) c.108C>A c.58C>A (p.Arg20=) c.90C>A n.68C>A c.-416C>A (n.-416C>A) | gnomAD v4 |
17 | g.15999891C>G | CA398382082 | TTC19 | c.43C>G (p.Arg15Gly) c.108C>G c.58C>G (p.Arg20Gly) c.90C>G n.68C>G c.-416C>G (n.-416C>G) | |
17 | g.15999891C>T | CA398382083 | TTC19 | c.43C>T (p.Arg15Trp) c.108C>T c.58C>T (p.Arg20Trp) c.90C>T n.68C>T c.-416C>T (n.-416C>T) | gnomAD v4 |
17 | g.15999892G>A | CA398382086 | TTC19 | c.44G>A (p.Arg15Gln) c.109G>A c.59G>A (p.Arg20Gln) c.91G>A n.69G>A c.-415G>A (n.-415G>A) | gnomAD v4 |
17 | g.15999892G>C | CA398382088 | TTC19 | c.44G>C (p.Arg15Pro) c.109G>C c.59G>C (p.Arg20Pro) c.91G>C n.69G>C c.-415G>C (n.-415G>C) | |
17 | g.15999892G>T | CA398382090 | TTC19 | c.44G>T (p.Arg15Leu) c.109G>T c.59G>T (p.Arg20Leu) c.91G>T n.69G>T c.-415G>T (n.-415G>T) | gnomAD v4 |
17 | g.15999893G>A | CA498414307 | TTC19 | c.45G>A (p.Arg15=) c.110G>A c.60G>A (p.Arg20=) c.92G>A n.70G>A c.-414G>A (n.-414G>A) | gnomAD v4 |
17 | g.15999893G>C | CA498414308 | TTC19 | c.45G>C (p.Arg15=) c.110G>C c.60G>C (p.Arg20=) c.92G>C n.70G>C c.-414G>C (n.-414G>C) | gnomAD v4 |
17 | g.15999893G>T | CA498414309 | TTC19 | c.45G>T (p.Arg15=) c.110G>T c.60G>T (p.Arg20=) c.92G>T n.70G>T c.-414G>T (n.-414G>T) | |
17 | g.15999894G>A | CA398382092 | TTC19 | c.46G>A (p.Ala16Thr) c.111G>A c.61G>A (p.Ala21Thr) c.93G>A n.71G>A c.-413G>A (n.-413G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.15999894G>C | CA398382100 | TTC19 | c.46G>C (p.Ala16Pro) c.111G>C c.61G>C (p.Ala21Pro) c.93G>C n.71G>C c.-413G>C (n.-413G>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.15999894G= | CA2249814975 | TTC19 | c.46G= (p.Ala16=) c.111G= c.61G= (p.Ala21=) c.93G= n.71G= c.-413G= (n.-413G=) | |
17 | g.15999894G>T | CA398382094 | TTC19 | c.46G>T (p.Ala16Ser) c.111G>T c.61G>T (p.Ala21Ser) c.93G>T n.71G>T c.-413G>T (n.-413G>T) | gnomAD v4 |
17 | g.15999895C>A | CA398382104 | TTC19 | c.47C>A (p.Ala16Asp) c.112C>A c.62C>A (p.Ala21Asp) c.94C>A n.72C>A c.-412C>A (n.-412C>A) | gnomAD v4 |
17 | g.15999895C>G | CA398382105 | TTC19 | c.47C>G (p.Ala16Gly) c.112C>G c.62C>G (p.Ala21Gly) c.94C>G n.72C>G c.-412C>G (n.-412C>G) | gnomAD v4 |
17 | g.15999895C>T | CA398382114 | TTC19 | c.47C>T (p.Ala16Val) c.112C>T c.62C>T (p.Ala21Val) c.94C>T n.72C>T c.-412C>T (n.-412C>T) | gnomAD v4 |
17 | g.15999896C>A | CA498414310 | TTC19 | c.48C>A (p.Ala16=) c.113C>A c.63C>A (p.Ala21=) c.95C>A n.73C>A c.-411C>A (n.-411C>A) | gnomAD v4 |
17 | g.15999896C>G | CA498414311 | TTC19 | c.48C>G (p.Ala16=) c.113C>G c.63C>G (p.Ala21=) c.95C>G n.73C>G c.-411C>G (n.-411C>G) | |
17 | g.15999896C>T | CA498414312 | TTC19 | c.48C>T (p.Ala16=) c.113C>T c.63C>T (p.Ala21=) c.95C>T n.73C>T c.-411C>T (n.-411C>T) | gnomAD v4 |
17 | g.15999898_15999899del | CA2636259685 | TTC19 | c.50_51del (p.Ala17GlyfsTer?) c.115_116del c.65_66del (p.Ala22GlyfsTer?) c.97_98del n.75_76del c.-409_-408del (n.-409_-408del) | gnomAD v4 |
17 | g.15999897G>A | CA398382116 | TTC19 | c.49G>A (p.Ala17Thr) c.114G>A c.64G>A (p.Ala22Thr) c.96G>A n.74G>A c.-410G>A (n.-410G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.15999897G>C | CA398382118 | TTC19 | c.49G>C (p.Ala17Pro) c.114G>C c.64G>C (p.Ala22Pro) c.96G>C n.74G>C c.-410G>C (n.-410G>C) | |
17 | g.15999897G= | CA2249814976 | TTC19 | c.49G= (p.Ala17=) c.114G= c.64G= (p.Ala22=) c.96G= n.74G= c.-410G= (n.-410G=) | |
17 | g.15999897G>T | CA398382121 | TTC19 | c.49G>T (p.Ala17Ser) c.114G>T c.64G>T (p.Ala22Ser) c.96G>T n.74G>T c.-410G>T (n.-410G>T) | gnomAD v4 |
17 | g.15999897dup | CA2566747824 | TTC19 | c.49dup (p.Ala17GlyfsTer?) c.114dup c.64dup (p.Ala22GlyfsTer?) c.96dup n.74dup c.-410dup (n.-410dup) | |
17 | g.15999898C>A | CA398382124 | TTC19 | c.50C>A (p.Ala17Glu) c.115C>A c.65C>A (p.Ala22Glu) c.97C>A n.75C>A c.-409C>A (n.-409C>A) | |
17 | g.15999898C= | CA2249814977 | TTC19 | c.50C= (p.Ala17=) c.115C= c.65C= (p.Ala22=) c.97C= n.75C= c.-409C= (n.-409C=) | |
17 | g.15999898C>G | CA398382125 | TTC19 | c.50C>G (p.Ala17Gly) c.115C>G c.65C>G (p.Ala22Gly) c.97C>G n.75C>G c.-409C>G (n.-409C>G) | |
17 | g.15999898C>T | CA8407237 | TTC19 | c.50C>T (p.Ala17Val) c.115C>T c.65C>T (p.Ala22Val) c.97C>T n.75C>T c.-409C>T (n.-409C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.15999899G>A | CA498414313 | TTC19 | c.51G>A (p.Ala17=) c.116G>A c.66G>A (p.Ala22=) c.98G>A n.76G>A c.-408G>A (n.-408G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.15999899G>C | CA498414314 | TTC19 | c.51G>C (p.Ala17=) c.116G>C c.66G>C (p.Ala22=) c.98G>C n.76G>C c.-408G>C (n.-408G>C) | dbSNP |
17 | g.15999899G= | CA2249814978 | TTC19 | c.51G= (p.Ala17=) c.116G= c.66G= (p.Ala22=) c.98G= n.76G= c.-408G= (n.-408G=) | |
17 | g.15999899G>T | CA498414315 | TTC19 | c.51G>T (p.Ala17=) c.116G>T c.66G>T (p.Ala22=) c.98G>T n.76G>T c.-408G>T (n.-408G>T) | gnomAD v4 |
17 | g.15999902del | CA2636259686 | TTC19 | c.54del (p.Arg19GlyfsTer?) c.119del c.69del (p.Arg24GlyfsTer?) c.101del n.79del c.-405del (n.-405del) | gnomAD v4 |
17 | g.15999901_15999916del | CA2636259687 | TTC19 | c.53_68del (p.Gly18AlafsTer?) c.118_133del c.68_83del (p.Gly23AlafsTer?) c.100_115del n.78_93del c.-406_-391del (n.-406_-391del) | gnomAD v4 |
17 | g.15999900G>A | CA398382130 | TTC19 | c.52G>A (p.Gly18Arg) c.117G>A c.67G>A (p.Gly23Arg) c.99G>A n.77G>A c.-407G>A (n.-407G>A) | gnomAD v4 |
17 | g.15999900G>C | CA398382131 | TTC19 | c.52G>C (p.Gly18Arg) c.117G>C c.67G>C (p.Gly23Arg) c.99G>C n.77G>C c.-407G>C (n.-407G>C) | |
17 | g.15999900G>T | CA398382134 | TTC19 | c.52G>T (p.Gly18Trp) c.117G>T c.67G>T (p.Gly23Trp) c.99G>T n.77G>T c.-407G>T (n.-407G>T) | gnomAD v4 |
17 | g.15999901G>A | CA398382139 | TTC19 | c.53G>A (p.Gly18Glu) c.118G>A c.68G>A (p.Gly23Glu) c.100G>A n.78G>A c.-406G>A (n.-406G>A) | gnomAD v4 |
17 | g.15999901G>C | CA398382145 | TTC19 | c.53G>C (p.Gly18Ala) c.118G>C c.68G>C (p.Gly23Ala) c.100G>C n.78G>C c.-406G>C (n.-406G>C) | |
17 | g.15999901G>T | CA398382142 | TTC19 | c.53G>T (p.Gly18Val) c.118G>T c.68G>T (p.Gly23Val) c.100G>T n.78G>T c.-406G>T (n.-406G>T) | |
17 | g.15999902G>A | CA498414316 | TTC19 | c.54G>A (p.Gly18=) c.119G>A c.69G>A (p.Gly23=) c.101G>A n.79G>A c.-405G>A (n.-405G>A) | gnomAD v4 |
17 | g.15999902G>C | CA498414317 | TTC19 | c.54G>C (p.Gly18=) c.119G>C c.69G>C (p.Gly23=) c.101G>C n.79G>C c.-405G>C (n.-405G>C) | |
17 | g.15999902G>T | CA498414318 | TTC19 | c.54G>T (p.Gly18=) c.119G>T c.69G>T (p.Gly23=) c.101G>T n.79G>T c.-405G>T (n.-405G>T) | gnomAD v4 |
17 | g.15999903C>A | CA498414319 | TTC19 | c.55C>A (p.Arg19=) c.120C>A c.70C>A (p.Arg24=) c.102C>A n.80C>A c.-404C>A (n.-404C>A) | gnomAD v4 |
17 | g.15999903C>G | CA398382146 | TTC19 | c.55C>G (p.Arg19Gly) c.120C>G c.70C>G (p.Arg24Gly) c.102C>G n.80C>G c.-404C>G (n.-404C>G) | dbSNP |
17 | g.15999903C>T | CA398382147 | TTC19 | c.55C>T (p.Arg19Trp) c.120C>T c.70C>T (p.Arg24Trp) c.102C>T n.80C>T c.-404C>T (n.-404C>T) | gnomAD v4 |
17 | g.15999904G>A | CA398382148 | TTC19 | c.56G>A (p.Arg19Gln) c.121G>A c.71G>A (p.Arg24Gln) c.103G>A n.81G>A c.-403G>A (n.-403G>A) | gnomAD v4 |
17 | g.15999904G>C | CA398382149 | TTC19 | c.56G>C (p.Arg19Pro) c.121G>C c.71G>C (p.Arg24Pro) c.103G>C n.81G>C c.-403G>C (n.-403G>C) | gnomAD v4 |
17 | g.15999904G>T | CA398382152 | TTC19 | c.56G>T (p.Arg19Leu) c.121G>T c.71G>T (p.Arg24Leu) c.103G>T n.81G>T c.-403G>T (n.-403G>T) | gnomAD v4 |
17 | g.15999905G>A | CA498414320 | TTC19 | c.57G>A (p.Arg19=) c.122G>A c.72G>A (p.Arg24=) c.104G>A n.82G>A c.-402G>A (n.-402G>A) | |
17 | g.15999905G>C | CA498414321 | TTC19 | c.57G>C (p.Arg19=) c.122G>C c.72G>C (p.Arg24=) c.104G>C n.82G>C c.-402G>C (n.-402G>C) | |
17 | g.15999905G>T | CA498414322 | TTC19 | c.57G>T (p.Arg19=) c.122G>T c.72G>T (p.Arg24=) c.104G>T n.82G>T c.-402G>T (n.-402G>T) | |
17 | g.15999906C>A | CA498414323 | TTC19 | c.58C>A (p.Arg20=) c.123C>A c.73C>A (p.Arg25=) c.105C>A n.83C>A c.-401C>A (n.-401C>A) | gnomAD v4 |
17 | g.15999906C= | CA2249814979 | TTC19 | c.58C= (p.Arg20=) c.123C= c.73C= (p.Arg25=) c.105C= n.83C= c.-401C= (n.-401C=) | |
17 | g.15999906C>G | CA398382156 | TTC19 | c.58C>G (p.Arg20Gly) c.123C>G c.73C>G (p.Arg25Gly) c.105C>G n.83C>G c.-401C>G (n.-401C>G) | gnomAD v4 |
17 | g.15999906C>T | CA398382158 | TTC19 | c.58C>T (p.Arg20Trp) c.123C>T c.73C>T (p.Arg25Trp) c.105C>T n.83C>T c.-401C>T (n.-401C>T) | dbSNP gnomAD v4 |
17 | g.15999907G>A | CA398382163 | TTC19 | c.59G>A (p.Arg20Gln) c.124G>A c.74G>A (p.Arg25Gln) c.106G>A n.84G>A c.-400G>A (n.-400G>A) | gnomAD v4 |
17 | g.15999907G>C | CA398382171 | TTC19 | c.59G>C (p.Arg20Pro) c.124G>C c.74G>C (p.Arg25Pro) c.106G>C n.84G>C c.-400G>C (n.-400G>C) | |
17 | g.15999907G>T | CA398382172 | TTC19 | c.59G>T (p.Arg20Leu) c.124G>T c.74G>T (p.Arg25Leu) c.106G>T n.84G>T c.-400G>T (n.-400G>T) | |
17 | g.15999908G>A | CA498414324 | TTC19 | c.60G>A (p.Arg20=) c.125G>A c.75G>A (p.Arg25=) c.107G>A n.85G>A c.-399G>A (n.-399G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.15999908G>C | CA498414326 | TTC19 | c.60G>C (p.Arg20=) c.125G>C c.75G>C (p.Arg25=) c.107G>C n.85G>C c.-399G>C (n.-399G>C) | |
17 | g.15999908G= | CA2249814980 | TTC19 | c.60G= (p.Arg20=) c.125G= c.75G= (p.Arg25=) c.107G= n.85G= c.-399G= (n.-399G=) | |
17 | g.15999908G>T | CA498414325 | TTC19 | c.60G>T (p.Arg20=) c.125G>T c.75G>T (p.Arg25=) c.107G>T n.85G>T c.-399G>T (n.-399G>T) | gnomAD v4 |
17 | g.15999909T>A | CA398382173 | TTC19 | c.61T>A (p.Cys21Ser) c.126T>A c.76T>A (p.Cys26Ser) c.108T>A n.86T>A c.-398T>A (n.-398T>A) | |
17 | g.15999909T>C | CA398382174 | TTC19 | c.61T>C (p.Cys21Arg) c.126T>C c.76T>C (p.Cys26Arg) c.108T>C n.86T>C c.-398T>C (n.-398T>C) | |
17 | g.15999909T>G | CA398382175 | TTC19 | c.61T>G (p.Cys21Gly) c.126T>G c.76T>G (p.Cys26Gly) c.108T>G n.86T>G c.-398T>G (n.-398T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999909T= | CA2249814981 | TTC19 | c.61T= (p.Cys21=) c.126T= c.76T= (p.Cys26=) c.108T= n.86T= c.-398T= (n.-398T=) | |
17 | g.15999910G>A | CA398382178 | TTC19 | c.62G>A (p.Cys21Tyr) c.127G>A c.77G>A (p.Cys26Tyr) c.109G>A n.87G>A c.-397G>A (n.-397G>A) | gnomAD v4 |
17 | g.15999910G>C | CA398382183 | TTC19 | c.62G>C (p.Cys21Ser) c.127G>C c.77G>C (p.Cys26Ser) c.109G>C n.87G>C c.-397G>C (n.-397G>C) | |
17 | g.15999910G>T | CA398382181 | TTC19 | c.62G>T (p.Cys21Phe) c.127G>T c.77G>T (p.Cys26Phe) c.109G>T n.87G>T c.-397G>T (n.-397G>T) | gnomAD v4 |
17 | g.15999910_15999935delinsGCCGGGGCTGCTCCGCGCGCCTGCTC | CA2249814982 | TTC19 | c.62_87delinsGCCGGGGCTGCTCCGCGCGCCTGCTC (p.Cys21=) c.127_152delinsGCCGGGGCTGCTCCGCGCGCCTGCTC c.77_102delinsGCCGGGGCTGCTCCGCGCGCCTGCTC (p.Cys26=) c.109_134delinsGCCGGGGCTGCTCCGCGCGCCTGCTC n.87_112delinsGCCGGGGCTGCTCCGCGCGCCTGCTC c.-397_-372delinsGCCGGGGCTGCTCCGCGCGCCTGCTC (n.-397_-372delinsGCCGGGGCTGCTCCGCGCGCCTGCTC) | |
17 | g.15999911C>A | CA398382185 | TTC19 | c.63C>A (p.Cys21Ter) c.128C>A c.78C>A (p.Cys26Ter) c.110C>A n.88C>A c.-396C>A (n.-396C>A) | gnomAD v4 |
17 | g.15999911C= | CA2249814983 | TTC19 | c.63C= (p.Cys21=) c.128C= c.78C= (p.Cys26=) c.110C= n.88C= c.-396C= (n.-396C=) | |
17 | g.15999911C>G | CA398382187 | TTC19 | c.63C>G (p.Cys21Trp) c.128C>G c.78C>G (p.Cys26Trp) c.110C>G n.88C>G c.-396C>G (n.-396C>G) | |
17 | g.15999911C>T | CA498414327 | TTC19 | c.63C>T (p.Cys21=) c.128C>T c.78C>T (p.Cys26=) c.110C>T n.88C>T c.-396C>T (n.-396C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999920_15999944del | CA726478704 | TTC19 | c.72_96del (p.Cys24TrpfsTer?) c.137_161del c.87_111del (p.Cys29TrpfsTer?) c.119_143del n.97_121del c.-387_-363del (n.-387_-363del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.15999912C>A | CA498414328 | TTC19 | c.64C>A (p.Arg22=) c.129C>A c.79C>A (p.Arg27=) c.111C>A n.89C>A c.-395C>A (n.-395C>A) | gnomAD v4 |
17 | g.15999912C= | CA2249814984 | TTC19 | c.64C= (p.Arg22=) c.129C= c.79C= (p.Arg27=) c.111C= n.89C= c.-395C= (n.-395C=) | |
17 | g.15999912C>G | CA398382189 | TTC19 | c.64C>G (p.Arg22Gly) c.129C>G c.79C>G (p.Arg27Gly) c.111C>G n.89C>G c.-395C>G (n.-395C>G) | |
17 | g.15999912C>T | CA398382190 | TTC19 | c.64C>T (p.Arg22Trp) c.129C>T c.79C>T (p.Arg27Trp) c.111C>T n.89C>T c.-395C>T (n.-395C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999914_15999926dup | CA2636259688 | TTC19 | c.66_78dup (p.Arg27GlyfsTer?) c.131_143dup c.81_93dup (p.Arg32GlyfsTer?) c.113_125dup n.91_103dup c.-393_-381dup (n.-393_-381dup) | gnomAD v4 |
17 | g.15999913G>A | CA398382192 | TTC19 | c.65G>A (p.Arg22Gln) c.130G>A c.80G>A (p.Arg27Gln) c.112G>A n.90G>A c.-394G>A (n.-394G>A) | gnomAD v4 |
17 | g.15999913G>C | CA398382195 | TTC19 | c.65G>C (p.Arg22Pro) c.130G>C c.80G>C (p.Arg27Pro) c.112G>C n.90G>C c.-394G>C (n.-394G>C) | dbSNP gnomAD v4 |
17 | g.15999913G= | CA2249814985 | TTC19 | c.65G= (p.Arg22=) c.130G= c.80G= (p.Arg27=) c.112G= n.90G= c.-394G= (n.-394G=) | |
17 | g.15999913G>T | CA398382198 | TTC19 | c.65G>T (p.Arg22Leu) c.130G>T c.80G>T (p.Arg27Leu) c.112G>T n.90G>T c.-394G>T (n.-394G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999914G>A | CA8407238 | TTC19 | c.66G>A (p.Arg22=) c.131G>A c.81G>A (p.Arg27=) c.113G>A n.91G>A c.-393G>A (n.-393G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.15999914G>C | CA498414329 | TTC19 | c.66G>C (p.Arg22=) c.131G>C c.81G>C (p.Arg27=) c.113G>C n.91G>C c.-393G>C (n.-393G>C) | gnomAD v4 |
17 | g.15999914G= | CA2249814986 | TTC19 | c.66G= (p.Arg22=) c.131G= c.81G= (p.Arg27=) c.113G= n.91G= c.-393G= (n.-393G=) | |
17 | g.15999914G>T | CA498414330 | TTC19 | c.66G>T (p.Arg22=) c.131G>T c.81G>T (p.Arg27=) c.113G>T n.91G>T c.-393G>T (n.-393G>T) | gnomAD v4 |
17 | g.15999915G>A | CA398382206 | TTC19 | c.67G>A (p.Gly23Ser) c.132G>A c.82G>A (p.Gly28Ser) c.114G>A n.92G>A c.-392G>A (n.-392G>A) | ClinVar |
17 | g.15999915G>C | CA398382207 | TTC19 | c.67G>C (p.Gly23Arg) c.132G>C c.82G>C (p.Gly28Arg) c.114G>C n.92G>C c.-392G>C (n.-392G>C) | dbSNP |
17 | g.15999915G= | CA2249814987 | TTC19 | c.67G= (p.Gly23=) c.132G= c.82G= (p.Gly28=) c.114G= n.92G= c.-392G= (n.-392G=) | |
17 | g.15999915G>T | CA398382210 | TTC19 | c.67G>T (p.Gly23Cys) c.132G>T c.82G>T (p.Gly28Cys) c.114G>T n.92G>T c.-392G>T (n.-392G>T) | |
17 | g.15999916G>A | CA398382220 | TTC19 | c.68G>A (p.Gly23Asp) c.133G>A c.83G>A (p.Gly28Asp) c.115G>A n.93G>A c.-391G>A (n.-391G>A) | dbSNP gnomAD v4 |
17 | g.15999916G>C | CA398382217 | TTC19 | c.68G>C (p.Gly23Ala) c.133G>C c.83G>C (p.Gly28Ala) c.115G>C n.93G>C c.-391G>C (n.-391G>C) | |
17 | g.15999916G= | CA2249814988 | TTC19 | c.68G= (p.Gly23=) c.133G= c.83G= (p.Gly28=) c.115G= n.93G= c.-391G= (n.-391G=) | |
17 | g.15999916G>T | CA398382214 | TTC19 | c.68G>T (p.Gly23Val) c.133G>T c.83G>T (p.Gly28Val) c.115G>T n.93G>T c.-391G>T (n.-391G>T) | gnomAD v4 |
17 | g.15999917C>A | CA498414331 | TTC19 | c.69C>A (p.Gly23=) c.134C>A c.84C>A (p.Gly28=) c.116C>A n.94C>A c.-390C>A (n.-390C>A) | gnomAD v4 |
17 | g.15999917C= | CA2249814989 | TTC19 | c.69C= (p.Gly23=) c.134C= c.84C= (p.Gly28=) c.116C= n.94C= c.-390C= (n.-390C=) | |
17 | g.15999917C>G | CA498414332 | TTC19 | c.69C>G (p.Gly23=) c.134C>G c.84C>G (p.Gly28=) c.116C>G n.94C>G c.-390C>G (n.-390C>G) | |
17 | g.15999917C>T | CA288187838 | TTC19 | c.69C>T (p.Gly23=) c.134C>T c.84C>T (p.Gly28=) c.116C>T n.94C>T c.-390C>T (n.-390C>T) | dbSNP gnomAD v4 |
17 | g.15999918T>A | CA398382226 | TTC19 | c.70T>A (p.Cys24Ser) c.135T>A c.85T>A (p.Cys29Ser) c.117T>A n.95T>A c.-389T>A (n.-389T>A) | |
17 | g.15999918T>C | CA398382232 | TTC19 | c.70T>C (p.Cys24Arg) c.135T>C c.85T>C (p.Cys29Arg) c.117T>C n.95T>C c.-389T>C (n.-389T>C) | dbSNP gnomAD v4 |
17 | g.15999918T>G | CA398382229 | TTC19 | c.70T>G (p.Cys24Gly) c.135T>G c.85T>G (p.Cys29Gly) c.117T>G n.95T>G c.-389T>G (n.-389T>G) | |
17 | g.15999918T= | CA2249814990 | TTC19 | c.70T= (p.Cys24=) c.135T= c.85T= (p.Cys29=) c.117T= n.95T= c.-389T= (n.-389T=) | |
17 | g.15999919G>A | CA398382236 | TTC19 | c.71G>A (p.Cys24Tyr) c.136G>A c.86G>A (p.Cys29Tyr) c.118G>A n.96G>A c.-388G>A (n.-388G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.15999919G>C | CA398382238 | TTC19 | c.71G>C (p.Cys24Ser) c.136G>C c.86G>C (p.Cys29Ser) c.118G>C n.96G>C c.-388G>C (n.-388G>C) | |
17 | g.15999919G= | CA2249814991 | TTC19 | c.71G= (p.Cys24=) c.136G= c.86G= (p.Cys29=) c.118G= n.96G= c.-388G= (n.-388G=) | |
17 | g.15999919G>T | CA398382237 | TTC19 | c.71G>T (p.Cys24Phe) c.136G>T c.86G>T (p.Cys29Phe) c.118G>T n.96G>T c.-388G>T (n.-388G>T) | gnomAD v4 |
17 | g.15999920C>A | CA398382239 | TTC19 | c.72C>A (p.Cys24Ter) c.137C>A c.87C>A (p.Cys29Ter) c.119C>A n.97C>A c.-387C>A (n.-387C>A) | gnomAD v4 |
17 | g.15999920C= | CA2249814992 | TTC19 | c.72C= (p.Cys24=) c.137C= c.87C= (p.Cys29=) c.119C= n.97C= c.-387C= (n.-387C=) | |
17 | g.15999920C>G | CA398382240 | TTC19 | c.72C>G (p.Cys24Trp) c.137C>G c.87C>G (p.Cys29Trp) c.119C>G n.97C>G c.-387C>G (n.-387C>G) | |
17 | g.15999920C>T | CA498414333 | TTC19 | c.72C>T (p.Cys24=) c.137C>T c.87C>T (p.Cys29=) c.119C>T n.97C>T c.-387C>T (n.-387C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.15999921T>A | CA398382243 | TTC19 | c.73T>A (p.Ser25Thr) c.138T>A c.88T>A (p.Ser30Thr) c.120T>A n.98T>A c.-386T>A (n.-386T>A) | |
17 | g.15999921T>C | CA398382244 | TTC19 | c.73T>C (p.Ser25Pro) c.138T>C c.88T>C (p.Ser30Pro) c.120T>C n.98T>C c.-386T>C (n.-386T>C) | dbSNP gnomAD v4 |
17 | g.15999921T>G | CA398382245 | TTC19 | c.73T>G (p.Ser25Ala) c.138T>G c.88T>G (p.Ser30Ala) c.120T>G n.98T>G c.-386T>G (n.-386T>G) | dbSNP |
17 | g.15999921T= | CA2249814993 | TTC19 | c.73T= (p.Ser25=) c.138T= c.88T= (p.Ser30=) c.120T= n.98T= c.-386T= (n.-386T=) | |
17 | g.15999921_15999945del | CA2636259689 | TTC19 | c.73_97del (p.Ser25GlnfsTer?) c.138_162del c.88_112del (p.Ser30GlnfsTer?) c.120_144del n.98_122del c.-386_-362del (n.-386_-362del) | gnomAD v4 |
17 | g.15999922C>A | CA398382246 | TTC19 | c.74C>A (p.Ser25Tyr) c.139C>A c.89C>A (p.Ser30Tyr) c.121C>A n.99C>A c.-385C>A (n.-385C>A) | gnomAD v4 |
17 | g.15999922C>G | CA398382247 | TTC19 | c.74C>G (p.Ser25Cys) c.139C>G c.89C>G (p.Ser30Cys) c.121C>G n.99C>G c.-385C>G (n.-385C>G) | |
17 | g.15999922C>T | CA398382248 | TTC19 | c.74C>T (p.Ser25Phe) c.139C>T c.89C>T (p.Ser30Phe) c.121C>T n.99C>T c.-385C>T (n.-385C>T) | gnomAD v4 |
17 | g.15999923C>A | CA498414334 | TTC19 | c.75C>A (p.Ser25=) c.140C>A c.90C>A (p.Ser30=) c.122C>A n.100C>A c.-384C>A (n.-384C>A) | dbSNP gnomAD v4 |
17 | g.15999923C= | CA2249814994 | TTC19 | c.75C= (p.Ser25=) c.140C= c.90C= (p.Ser30=) c.122C= n.100C= c.-384C= (n.-384C=) | |
17 | g.15999923C>G | CA498414335 | TTC19 | c.75C>G (p.Ser25=) c.140C>G c.90C>G (p.Ser30=) c.122C>G n.100C>G c.-384C>G (n.-384C>G) | gnomAD v4 |
17 | g.15999923C>T | CA498414336 | TTC19 | c.75C>T (p.Ser25=) c.140C>T c.90C>T (p.Ser30=) c.122C>T n.100C>T c.-384C>T (n.-384C>T) | gnomAD v4 |
17 | g.15999924G>A | CA398382251 | TTC19 | c.76G>A (p.Ala26Thr) c.141G>A c.91G>A (p.Ala31Thr) c.123G>A n.101G>A c.-383G>A (n.-383G>A) | gnomAD v4 |
17 | g.15999924G>C | CA398382254 | TTC19 | c.76G>C (p.Ala26Pro) c.141G>C c.91G>C (p.Ala31Pro) c.123G>C n.101G>C c.-383G>C (n.-383G>C) | |
17 | g.15999924G>T | CA398382255 | TTC19 | c.76G>T (p.Ala26Ser) c.141G>T c.91G>T (p.Ala31Ser) c.123G>T n.101G>T c.-383G>T (n.-383G>T) | |
17 | g.15999925C>A | CA398382258 | TTC19 | c.77C>A (p.Ala26Glu) c.142C>A c.92C>A (p.Ala31Glu) c.124C>A n.102C>A c.-382C>A (n.-382C>A) | gnomAD v4 |
17 | g.15999925C= | CA2249814995 | TTC19 | c.77C= (p.Ala26=) c.142C= c.92C= (p.Ala31=) c.124C= n.102C= c.-382C= (n.-382C=) | |
17 | g.15999925C>G | CA398382257 | TTC19 | c.77C>G (p.Ala26Gly) c.142C>G c.92C>G (p.Ala31Gly) c.124C>G n.102C>G c.-382C>G (n.-382C>G) | |
17 | g.15999925C>T | CA398382256 | TTC19 | c.77C>T (p.Ala26Val) c.142C>T c.92C>T (p.Ala31Val) c.124C>T n.102C>T c.-382C>T (n.-382C>T) | dbSNP gnomAD v4 |
17 | g.15999926G>A | CA498414337 | TTC19 | c.78G>A (p.Ala26=) c.143G>A c.93G>A (p.Ala31=) c.125G>A n.103G>A c.-381G>A (n.-381G>A) | gnomAD v4 |
17 | g.15999926G>C | CA498414338 | TTC19 | c.78G>C (p.Ala26=) c.143G>C c.93G>C (p.Ala31=) c.125G>C n.103G>C c.-381G>C (n.-381G>C) | |
17 | g.15999926G= | CA2249814996 | TTC19 | c.78G= (p.Ala26=) c.143G= c.93G= (p.Ala31=) c.125G= n.103G= c.-381G= (n.-381G=) | |
17 | g.15999926G>T | CA498414339 | TTC19 | c.78G>T (p.Ala26=) c.143G>T c.93G>T (p.Ala31=) c.125G>T n.103G>T c.-381G>T (n.-381G>T) | dbSNP gnomAD v4 |
17 | g.15999927C>A | CA398382261 | TTC19 | c.79C>A (p.Arg27Ser) c.144C>A c.94C>A (p.Arg32Ser) c.126C>A n.104C>A c.-380C>A (n.-380C>A) | gnomAD v4 |
17 | g.15999927C= | CA2249814997 | TTC19 | c.79C= (p.Arg27=) c.144C= c.94C= (p.Arg32=) c.126C= n.104C= c.-380C= (n.-380C=) | |
17 | g.15999927C>G | CA398382263 | TTC19 | c.79C>G (p.Arg27Gly) c.144C>G c.94C>G (p.Arg32Gly) c.126C>G n.104C>G c.-380C>G (n.-380C>G) | |
17 | g.15999927C>T | CA398382264 | TTC19 | c.79C>T (p.Arg27Cys) c.144C>T c.94C>T (p.Arg32Cys) c.126C>T n.104C>T c.-380C>T (n.-380C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999928G>A | CA398382267 | TTC19 | c.80G>A (p.Arg27His) c.145G>A c.95G>A (p.Arg32His) c.127G>A n.105G>A c.-379G>A (n.-379G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.15999928G>C | CA398382274 | TTC19 | c.80G>C (p.Arg27Pro) c.145G>C c.95G>C (p.Arg32Pro) c.127G>C n.105G>C c.-379G>C (n.-379G>C) | |
17 | g.15999928G= | CA2249814998 | TTC19 | c.80G= (p.Arg27=) c.145G= c.95G= (p.Arg32=) c.127G= n.105G= c.-379G= (n.-379G=) | |
17 | g.15999928G>T | CA398382275 | TTC19 | c.80G>T (p.Arg27Leu) c.145G>T c.95G>T (p.Arg32Leu) c.127G>T n.105G>T c.-379G>T (n.-379G>T) | dbSNP gnomAD v4 |
17 | g.15999929C>A | CA498414342 | TTC19 | c.81C>A (p.Arg27=) c.146C>A c.96C>A (p.Arg32=) c.128C>A n.106C>A c.-378C>A (n.-378C>A) | gnomAD v4 |
17 | g.15999929C>G | CA498414341 | TTC19 | c.81C>G (p.Arg27=) c.146C>G c.96C>G (p.Arg32=) c.128C>G n.106C>G c.-378C>G (n.-378C>G) | |
17 | g.15999929C>T | CA498414340 | TTC19 | c.81C>T (p.Arg27=) c.146C>T c.96C>T (p.Arg32=) c.128C>T n.106C>T c.-378C>T (n.-378C>T) | gnomAD v4 |
17 | g.15999930C>A | CA398382277 | TTC19 | c.82C>A (p.Leu28Met) c.147C>A c.97C>A (p.Leu33Met) c.129C>A n.107C>A c.-377C>A (n.-377C>A) | |
17 | g.15999930C>G | CA398382280 | TTC19 | c.82C>G (p.Leu28Val) c.147C>G c.97C>G (p.Leu33Val) c.129C>G n.107C>G c.-377C>G (n.-377C>G) | gnomAD v4 |
17 | g.15999930C>T | CA498414343 | TTC19 | c.82C>T (p.Leu28=) c.147C>T c.97C>T (p.Leu33=) c.129C>T n.107C>T c.-377C>T (n.-377C>T) | gnomAD v4 |
17 | g.15999931T>A | CA398382283 | TTC19 | c.83T>A (p.Leu28Gln) c.148T>A c.98T>A (p.Leu33Gln) c.130T>A n.108T>A c.-376T>A (n.-376T>A) | |
17 | g.15999931T>C | CA398382288 | TTC19 | c.83T>C (p.Leu28Pro) c.148T>C c.98T>C (p.Leu33Pro) c.130T>C n.108T>C c.-376T>C (n.-376T>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.15999931T>G | CA398382290 | TTC19 | c.83T>G (p.Leu28Arg) c.148T>G c.98T>G (p.Leu33Arg) c.130T>G n.108T>G c.-376T>G (n.-376T>G) | |
17 | g.15999931T= | CA2249814999 | TTC19 | c.83T= (p.Leu28=) c.148T= c.98T= (p.Leu33=) c.130T= n.108T= c.-376T= (n.-376T=) | |
17 | g.15999932G>A | CA498414344 | TTC19 | c.84G>A (p.Leu28=) c.149G>A c.99G>A (p.Leu33=) c.131G>A n.109G>A c.-375G>A (n.-375G>A) | gnomAD v4 |
17 | g.15999932G>C | CA498414345 | TTC19 | c.84G>C (p.Leu28=) c.149G>C c.99G>C (p.Leu33=) c.131G>C n.109G>C c.-375G>C (n.-375G>C) | |
17 | g.15999932G>T | CA498414346 | TTC19 | c.84G>T (p.Leu28=) c.149G>T c.99G>T (p.Leu33=) c.131G>T n.109G>T c.-375G>T (n.-375G>T) | |
17 | g.15999933C>A | CA398382300 | TTC19 | c.85C>A (p.Leu29Ile) c.150C>A c.100C>A (p.Leu34Ile) c.132C>A n.110C>A c.-374C>A (n.-374C>A) | gnomAD v4 |
17 | g.15999933C= | CA2249815000 | TTC19 | c.85C= (p.Leu29=) c.150C= c.100C= (p.Leu34=) c.132C= n.110C= c.-374C= (n.-374C=) | |
17 | g.15999933C>G | CA398382296 | TTC19 | c.85C>G (p.Leu29Val) c.150C>G c.100C>G (p.Leu34Val) c.132C>G n.110C>G c.-374C>G (n.-374C>G) | |
17 | g.15999933C>T | CA398382293 | TTC19 | c.85C>T (p.Leu29Phe) c.150C>T c.100C>T (p.Leu34Phe) c.132C>T n.110C>T c.-374C>T (n.-374C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999934T>A | CA398382304 | TTC19 | c.86T>A (p.Leu29His) c.151T>A c.101T>A (p.Leu34His) c.133T>A n.111T>A c.-373T>A (n.-373T>A) | gnomAD v4 |
17 | g.15999934T>C | CA398382307 | TTC19 | c.86T>C (p.Leu29Pro) c.151T>C c.101T>C (p.Leu34Pro) c.133T>C n.111T>C c.-373T>C (n.-373T>C) | dbSNP gnomAD v4 |
17 | g.15999934T>G | CA398382310 | TTC19 | c.86T>G (p.Leu29Arg) c.151T>G c.101T>G (p.Leu34Arg) c.133T>G n.111T>G c.-373T>G (n.-373T>G) | |
17 | g.15999935C>A | CA498414347 | TTC19 | c.87C>A (p.Leu29=) c.152C>A c.102C>A (p.Leu34=) c.134C>A n.112C>A c.-372C>A (n.-372C>A) | gnomAD v4 |
17 | g.15999935C= | CA2249815001 | TTC19 | c.87C= (p.Leu29=) c.152C= c.102C= (p.Leu34=) c.134C= n.112C= c.-372C= (n.-372C=) | |
17 | g.15999935C>G | CA498414348 | TTC19 | c.87C>G (p.Leu29=) c.152C>G c.102C>G (p.Leu34=) c.134C>G n.112C>G c.-372C>G (n.-372C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999935C>T | CA8407239 | TTC19 | c.87C>T (p.Leu29=) c.152C>T c.102C>T (p.Leu34=) c.134C>T n.112C>T c.-372C>T (n.-372C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999936C>A | CA398382313 | TTC19 | c.88C>A (p.Pro30Thr) c.153C>A c.103C>A (p.Pro35Thr) c.135C>A n.113C>A c.-371C>A (n.-371C>A) | gnomAD v4 |
17 | g.15999936C>G | CA398382315 | TTC19 | c.88C>G (p.Pro30Ala) c.153C>G c.103C>G (p.Pro35Ala) c.135C>G n.113C>G c.-371C>G (n.-371C>G) | |
17 | g.15999936C>T | CA398382316 | TTC19 | c.88C>T (p.Pro30Ser) c.153C>T c.103C>T (p.Pro35Ser) c.135C>T n.113C>T c.-371C>T (n.-371C>T) | gnomAD v4 |
17 | g.15999937C>A | CA398382319 | TTC19 | c.89C>A (p.Pro30Gln) c.154C>A c.104C>A (p.Pro35Gln) c.136C>A n.114C>A c.-370C>A (n.-370C>A) | gnomAD v4 |
17 | g.15999937C= | CA2249815002 | TTC19 | c.89C= (p.Pro30=) c.154C= c.104C= (p.Pro35=) c.136C= n.114C= c.-370C= (n.-370C=) | |
17 | g.15999937C>G | CA398382322 | TTC19 | c.89C>G (p.Pro30Arg) c.154C>G c.104C>G (p.Pro35Arg) c.136C>G n.114C>G c.-370C>G (n.-370C>G) | gnomAD v4 |
17 | g.15999937C>T | CA398382324 | TTC19 | c.89C>T (p.Pro30Leu) c.154C>T c.104C>T (p.Pro35Leu) c.136C>T n.114C>T c.-370C>T (n.-370C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.15999938G>A | CA498414349 | TTC19 | c.90G>A (p.Pro30=) c.155G>A c.105G>A (p.Pro35=) c.137G>A n.115G>A c.-369G>A (n.-369G>A) | gnomAD v4 |
17 | g.15999938G>C | CA498414350 | TTC19 | c.90G>C (p.Pro30=) c.155G>C c.105G>C (p.Pro35=) c.137G>C n.115G>C c.-369G>C (n.-369G>C) | gnomAD v4 |
17 | g.15999938G>T | CA498414351 | TTC19 | c.90G>T (p.Pro30=) c.155G>T c.105G>T (p.Pro35=) c.137G>T n.115G>T c.-369G>T (n.-369G>T) | gnomAD v4 |
17 | g.15999941del | CA2636259690 | TTC19 | c.93del (p.Leu32TrpfsTer?) c.158del c.108del (p.Leu37TrpfsTer?) c.140del n.118del c.-366del (n.-366del) | gnomAD v4 |
17 | g.15999939G>A | CA398382327 | TTC19 | c.91G>A (p.Gly31Arg) c.156G>A c.106G>A (p.Gly36Arg) c.138G>A n.116G>A c.-368G>A (n.-368G>A) | gnomAD v4 |
17 | g.15999939G>C | CA398382330 | TTC19 | c.91G>C (p.Gly31Arg) c.156G>C c.106G>C (p.Gly36Arg) c.138G>C n.116G>C c.-368G>C (n.-368G>C) | ClinVar dbSNP gnomAD v4 |
17 | g.15999939G= | CA2249815003 | TTC19 | c.91G= (p.Gly31=) c.156G= c.106G= (p.Gly36=) c.138G= n.116G= c.-368G= (n.-368G=) | |
17 | g.15999939G>T | CA398382333 | TTC19 | c.91G>T (p.Gly31Trp) c.156G>T c.106G>T (p.Gly36Trp) c.138G>T n.116G>T c.-368G>T (n.-368G>T) | gnomAD v4 |
17 | g.15999940G>A | CA398382335 | TTC19 | c.92G>A (p.Gly31Glu) c.157G>A c.107G>A (p.Gly36Glu) c.139G>A n.117G>A c.-367G>A (n.-367G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.15999940G>C | CA398382339 | TTC19 | c.92G>C (p.Gly31Ala) c.157G>C c.107G>C (p.Gly36Ala) c.139G>C n.117G>C c.-367G>C (n.-367G>C) | |
17 | g.15999940G= | CA2249815004 | TTC19 | c.92G= (p.Gly31=) c.157G= c.107G= (p.Gly36=) c.139G= n.117G= c.-367G= (n.-367G=) | |
17 | g.15999940G>T | CA398382337 | TTC19 | c.92G>T (p.Gly31Val) c.157G>T c.107G>T (p.Gly36Val) c.139G>T n.117G>T c.-367G>T (n.-367G>T) | gnomAD v4 |
17 | g.15999941G>A | CA498414352 | TTC19 | c.93G>A (p.Gly31=) c.158G>A c.108G>A (p.Gly36=) c.140G>A n.118G>A c.-366G>A (n.-366G>A) | gnomAD v4 |
17 | g.15999941G>C | CA498414353 | TTC19 | c.93G>C (p.Gly31=) c.158G>C c.108G>C (p.Gly36=) c.140G>C n.118G>C c.-366G>C (n.-366G>C) | |
17 | g.15999941G>T | CA498414354 | TTC19 | c.93G>T (p.Gly31=) c.158G>T c.108G>T (p.Gly36=) c.140G>T n.118G>T c.-366G>T (n.-366G>T) | gnomAD v4 |
17 | g.15999942C>A | CA398382340 | TTC19 | c.94C>A (p.Leu32Met) c.159C>A c.109C>A (p.Leu37Met) c.141C>A n.119C>A c.-365C>A (n.-365C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.15999942C= | CA2249815005 | TTC19 | c.94C= (p.Leu32=) c.159C= c.109C= (p.Leu37=) c.141C= n.119C= c.-365C= (n.-365C=) | |
17 | g.15999942C>G | CA398382342 | TTC19 | c.94C>G (p.Leu32Val) c.159C>G c.109C>G (p.Leu37Val) c.141C>G n.119C>G c.-365C>G (n.-365C>G) | gnomAD v4 |
17 | g.15999942C>T | CA498414355 | TTC19 | c.94C>T (p.Leu32=) c.159C>T c.109C>T (p.Leu37=) c.141C>T n.119C>T c.-365C>T (n.-365C>T) | gnomAD v4 |
17 | g.15999943T>A | CA398382345 | TTC19 | c.95T>A (p.Leu32Gln) c.160T>A c.110T>A (p.Leu37Gln) c.142T>A n.120T>A c.-364T>A (n.-364T>A) | |
17 | g.15999943T>C | CA398382347 | TTC19 | c.95T>C (p.Leu32Pro) c.160T>C c.110T>C (p.Leu37Pro) c.142T>C n.120T>C c.-364T>C (n.-364T>C) | gnomAD v4 |
17 | g.15999943T>G | CA398382349 | TTC19 | c.95T>G (p.Leu32Arg) c.160T>G c.110T>G (p.Leu37Arg) c.142T>G n.120T>G c.-364T>G (n.-364T>G) | gnomAD v4 |
17 | g.15999944G>A | CA498414356 | TTC19 | c.96G>A (p.Leu32=) c.161G>A c.111G>A (p.Leu37=) c.143G>A n.121G>A c.-363G>A (n.-363G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.15999944G>C | CA498414357 | TTC19 | c.96G>C (p.Leu32=) c.161G>C c.111G>C (p.Leu37=) c.143G>C n.121G>C c.-363G>C (n.-363G>C) | gnomAD v4 |
17 | g.15999944G= | CA2249815006 | TTC19 | c.96G= (p.Leu32=) c.161G= c.111G= (p.Leu37=) c.143G= n.121G= c.-363G= (n.-363G=) | |
17 | g.15999944G>T | CA498414358 | TTC19 | c.96G>T (p.Leu32=) c.161G>T c.111G>T (p.Leu37=) c.143G>T n.121G>T c.-363G>T (n.-363G>T) | gnomAD v4 |
17 | g.15999945del | CA2636259691 | TTC19 | c.97del (p.Ala33GlnfsTer?) c.162del c.112del (p.Ala38GlnfsTer?) c.144del n.122del c.-362del (n.-362del) | gnomAD v4 |
17 | g.15999945G>A | CA398382354 | TTC19 | c.97G>A (p.Ala33Thr) c.162G>A c.112G>A (p.Ala38Thr) c.144G>A n.122G>A c.-362G>A (n.-362G>A) | gnomAD v4 |
17 | g.15999945G>C | CA398382357 | TTC19 | c.97G>C (p.Ala33Pro) c.162G>C c.112G>C (p.Ala38Pro) c.144G>C n.122G>C c.-362G>C (n.-362G>C) | |
17 | g.15999945G>T | CA398382358 | TTC19 | c.97G>T (p.Ala33Ser) c.162G>T c.112G>T (p.Ala38Ser) c.144G>T n.122G>T c.-362G>T (n.-362G>T) | gnomAD v4 |
17 | g.15999946C>A | CA398382359 | TTC19 | c.98C>A (p.Ala33Glu) c.163C>A c.113C>A (p.Ala38Glu) c.145C>A n.123C>A c.-361C>A (n.-361C>A) | gnomAD v4 |
17 | g.15999946C= | CA2249815007 | TTC19 | c.98C= (p.Ala33=) c.163C= c.113C= (p.Ala38=) c.145C= n.123C= c.-361C= (n.-361C=) | |
17 | g.15999946C>G | CA398382360 | TTC19 | c.98C>G (p.Ala33Gly) c.163C>G c.113C>G (p.Ala38Gly) c.145C>G n.123C>G c.-361C>G (n.-361C>G) | |
17 | g.15999946C>T | CA398382362 | TTC19 | c.98C>T (p.Ala33Val) c.163C>T c.113C>T (p.Ala38Val) c.145C>T n.123C>T c.-361C>T (n.-361C>T) | dbSNP gnomAD v4 |
17 | g.15999947A>C | CA498414359 | TTC19 | c.99A>C (p.Ala33=) c.164A>C c.114A>C (p.Ala38=) c.146A>C n.124A>C c.-360A>C (n.-360A>C) | |
17 | g.15999947A>G | CA498414360 | TTC19 | c.99A>G (p.Ala33=) c.164A>G c.114A>G (p.Ala38=) c.146A>G n.124A>G c.-360A>G (n.-360A>G) | gnomAD v4 |
17 | g.15999947A>T | CA498414361 | TTC19 | c.99A>T (p.Ala33=) c.164A>T c.114A>T (p.Ala38=) c.146A>T n.124A>T c.-360A>T (n.-360A>T) | gnomAD v4 |
17 | g.15999948G>A | CA398382370 | TTC19 | c.100G>A (p.Gly34Arg) c.165G>A c.115G>A (p.Gly39Arg) c.147G>A n.125G>A c.-359G>A (n.-359G>A) | ClinVar gnomAD v4 |
17 | g.15999948G>C | CA398382367 | TTC19 | c.100G>C (p.Gly34Arg) c.165G>C c.115G>C (p.Gly39Arg) c.147G>C n.125G>C c.-359G>C (n.-359G>C) | gnomAD v4 |
17 | g.15999948G>T | CA398382364 | TTC19 | c.100G>T (p.Gly34Ter) c.165G>T c.115G>T (p.Gly39Ter) c.147G>T n.125G>T c.-359G>T (n.-359G>T) | gnomAD v4 |
17 | g.15999949G>A | CA398382375 | TTC19 | c.101G>A (p.Gly34Glu) c.166G>A c.116G>A (p.Gly39Glu) c.148G>A n.126G>A c.-358G>A (n.-358G>A) | |
17 | g.15999949G>C | CA398382372 | TTC19 | c.101G>C (p.Gly34Ala) c.166G>C c.116G>C (p.Gly39Ala) c.148G>C n.126G>C c.-358G>C (n.-358G>C) | |
17 | g.15999949G>T | CA398382378 | TTC19 | c.101G>T (p.Gly34Val) c.166G>T c.116G>T (p.Gly39Val) c.148G>T n.126G>T c.-358G>T (n.-358G>T) | gnomAD v4 COSMIC |
17 | g.15999950A>C | CA498414362 | TTC19 | c.102A>C (p.Gly34=) c.167A>C c.117A>C (p.Gly39=) c.149A>C n.127A>C c.-357A>C (n.-357A>C) | |
17 | g.15999950A>G | CA498414364 | TTC19 | c.102A>G (p.Gly34=) c.167A>G c.117A>G (p.Gly39=) c.149A>G n.127A>G c.-357A>G (n.-357A>G) | gnomAD v4 |
17 | g.15999950A>T | CA498414363 | TTC19 | c.102A>T (p.Gly34=) c.167A>T c.117A>T (p.Gly39=) c.149A>T n.127A>T c.-357A>T (n.-357A>T) | |
17 | g.15999951G>A | CA398382380 | TTC19 | c.103G>A (p.Gly35Ser) c.168G>A c.118G>A (p.Gly40Ser) c.150G>A n.128G>A c.-356G>A (n.-356G>A) | gnomAD v4 |
17 | g.15999951G>C | CA398382382 | TTC19 | c.103G>C (p.Gly35Arg) c.168G>C c.118G>C (p.Gly40Arg) c.150G>C n.128G>C c.-356G>C (n.-356G>C) | |
17 | g.15999951G>T | CA398382388 | TTC19 | c.103G>T (p.Gly35Cys) c.168G>T c.118G>T (p.Gly40Cys) c.150G>T n.128G>T c.-356G>T (n.-356G>T) | gnomAD v4 |
17 | g.15999952G>A | CA398382391 | TTC19 | c.104G>A (p.Gly35Asp) c.169G>A c.119G>A (p.Gly40Asp) c.151G>A n.129G>A c.-355G>A (n.-355G>A) | dbSNP gnomAD v4 |
17 | g.15999952G>C | CA398382393 | TTC19 | c.104G>C (p.Gly35Ala) c.169G>C c.119G>C (p.Gly40Ala) c.151G>C n.129G>C c.-355G>C (n.-355G>C) | |
17 | g.15999952G>T | CA398382396 | TTC19 | c.104G>T (p.Gly35Val) c.169G>T c.119G>T (p.Gly40Val) c.151G>T n.129G>T c.-355G>T (n.-355G>T) | |
17 | g.15999953T>A | CA498414365 | TTC19 | c.105T>A (p.Gly35=) c.170T>A c.120T>A (p.Gly40=) c.152T>A n.130T>A c.-354T>A (n.-354T>A) | |
17 | g.15999953T>C | CA498414366 | TTC19 | c.105T>C (p.Gly35=) c.170T>C c.120T>C (p.Gly40=) c.152T>C n.130T>C c.-354T>C (n.-354T>C) | gnomAD v4 |
17 | g.15999953T>G | CA498414367 | TTC19 | c.105T>G (p.Gly35=) c.170T>G c.120T>G (p.Gly40=) c.152T>G n.130T>G c.-354T>G (n.-354T>G) | |
17 | g.15999954C>A | CA398382398 | TTC19 | c.106C>A (p.Pro36Thr) c.171C>A c.121C>A (p.Pro41Thr) c.153C>A n.131C>A c.-353C>A (n.-353C>A) | gnomAD v4 |
17 | g.15999954C>G | CA398382401 | TTC19 | c.106C>G (p.Pro36Ala) c.171C>G c.121C>G (p.Pro41Ala) c.153C>G n.131C>G c.-353C>G (n.-353C>G) | |
17 | g.15999954C>T | CA398382404 | TTC19 | c.106C>T (p.Pro36Ser) c.171C>T c.121C>T (p.Pro41Ser) c.153C>T n.131C>T c.-353C>T (n.-353C>T) | gnomAD v4 |
17 | g.15999963_16000009del | CA2636259692 | TTC19 | c.115_161del (p.Glu39ArgfsTer?) c.180_226del c.130_176del (p.Glu44ArgfsTer?) c.162_208del n.140_186del c.-344_-298del (n.-344_-298del) | gnomAD v4 |
17 | g.15999955C>A | CA398382405 | TTC19 | c.107C>A (p.Pro36Gln) c.172C>A c.122C>A (p.Pro41Gln) c.154C>A n.132C>A c.-352C>A (n.-352C>A) | gnomAD v4 |
17 | g.15999955C>G | CA398382407 | TTC19 | c.107C>G (p.Pro36Arg) c.172C>G c.122C>G (p.Pro41Arg) c.154C>G n.132C>G c.-352C>G (n.-352C>G) | |
17 | g.15999955C>T | CA398382412 | TTC19 | c.107C>T (p.Pro36Leu) c.172C>T c.122C>T (p.Pro41Leu) c.154C>T n.132C>T c.-352C>T (n.-352C>T) | gnomAD v4 |
17 | g.15999955_15999956delinsCG | CA2249815008 | TTC19 | c.107_108delinsCG (p.Pro36=) c.172_173delinsCG c.122_123delinsCG (p.Pro41=) c.154_155delinsCG n.132_133delinsCG c.-352_-351delinsCG (n.-352_-351delinsCG) | |
17 | g.15999955_15999956insT | CA2808602891 | TTC19 | c.107_108insT (p.Pro38AlafsTer?) c.172_173insT c.122_123insT (p.Pro43AlafsTer?) c.154_155insT n.132_133insT c.-352_-351insT (n.-352_-351insT) | |
17 | g.15999956G>A | CA498414368 | TTC19 | c.108G>A (p.Pro36=) c.173G>A c.123G>A (p.Pro41=) c.155G>A n.133G>A c.-351G>A (n.-351G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.15999956G>C | CA498414369 | TTC19 | c.108G>C (p.Pro36=) c.173G>C c.123G>C (p.Pro41=) c.155G>C n.133G>C c.-351G>C (n.-351G>C) | gnomAD v4 |
17 | g.15999956G= | CA2249815009 | TTC19 | c.108G= (p.Pro36=) c.173G= c.123G= (p.Pro41=) c.155G= n.133G= c.-351G= (n.-351G=) | |
17 | g.15999956G>T | CA498414370 | TTC19 | c.108G>T (p.Pro36=) c.173G>T c.123G>T (p.Pro41=) c.155G>T n.133G>T c.-351G>T (n.-351G>T) | gnomAD v4 |
17 | g.15999959del | CA625312128 | TTC19 | c.111del (p.Glu39ArgfsTer?) c.176del c.126del (p.Glu44ArgfsTer?) c.158del n.136del c.-348del (n.-348del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.15999957G>A | CA398382420 | TTC19 | c.109G>A (p.Gly37Arg) c.174G>A c.124G>A (p.Gly42Arg) c.156G>A n.134G>A c.-350G>A (n.-350G>A) | gnomAD v4 |
17 | g.15999957G>C | CA398382418 | TTC19 | c.109G>C (p.Gly37Arg) c.174G>C c.124G>C (p.Gly42Arg) c.156G>C n.134G>C c.-350G>C (n.-350G>C) | |
17 | g.15999957G= | CA2249815010 | TTC19 | c.109G= (p.Gly37=) c.174G= c.124G= (p.Gly42=) c.156G= n.134G= c.-350G= (n.-350G=) | |
17 | g.15999957G>T | CA398382415 | TTC19 | c.109G>T (p.Gly37Trp) c.174G>T c.124G>T (p.Gly42Trp) c.156G>T n.134G>T c.-350G>T (n.-350G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999958G>A | CA398382424 | TTC19 | c.110G>A (p.Gly37Glu) c.175G>A c.125G>A (p.Gly42Glu) c.157G>A n.135G>A c.-349G>A (n.-349G>A) | dbSNP gnomAD v4 |
17 | g.15999958G>C | CA398382426 | TTC19 | c.110G>C (p.Gly37Ala) c.175G>C c.125G>C (p.Gly42Ala) c.157G>C n.135G>C c.-349G>C (n.-349G>C) | |
17 | g.15999958G>T | CA398382428 | TTC19 | c.110G>T (p.Gly37Val) c.175G>T c.125G>T (p.Gly42Val) c.157G>T n.135G>T c.-349G>T (n.-349G>T) | |
17 | g.15999959G>A | CA498414371 | TTC19 | c.111G>A (p.Gly37=) c.176G>A c.126G>A (p.Gly42=) c.158G>A n.136G>A c.-348G>A (n.-348G>A) | dbSNP gnomAD v4 |
17 | g.15999959G>C | CA498414372 | TTC19 | c.111G>C (p.Gly37=) c.176G>C c.126G>C (p.Gly42=) c.158G>C n.136G>C c.-348G>C (n.-348G>C) | |
17 | g.15999959G>T | CA498414373 | TTC19 | c.111G>T (p.Gly37=) c.176G>T c.126G>T (p.Gly42=) c.158G>T n.136G>T c.-348G>T (n.-348G>T) | gnomAD v4 |
17 | g.15999960C>A | CA288187841 | TTC19 | c.112C>A (p.Pro38Thr) c.177C>A c.127C>A (p.Pro43Thr) c.159C>A n.137C>A c.-347C>A (n.-347C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.15999960C= | CA2249815011 | TTC19 | c.112C= (p.Pro38=) c.177C= c.127C= (p.Pro43=) c.159C= n.137C= c.-347C= (n.-347C=) | |
17 | g.15999960C>G | CA398382431 | TTC19 | c.112C>G (p.Pro38Ala) c.177C>G c.127C>G (p.Pro43Ala) c.159C>G n.137C>G c.-347C>G (n.-347C>G) | |
17 | g.15999960C>T | CA398382433 | TTC19 | c.112C>T (p.Pro38Ser) c.177C>T c.127C>T (p.Pro43Ser) c.159C>T n.137C>T c.-347C>T (n.-347C>T) | dbSNP gnomAD v4 |
17 | g.15999962del | CA2576180961 | TTC19 | c.114del (p.Glu39ArgfsTer?) c.179del c.129del (p.Glu44ArgfsTer?) c.161del n.139del c.-345del (n.-345del) | gnomAD v4 |
17 | g.15999961C>A | CA398382438 | TTC19 | c.113C>A (p.Pro38His) c.178C>A c.128C>A (p.Pro43His) c.160C>A n.138C>A c.-346C>A (n.-346C>A) | gnomAD v4 |
17 | g.15999961C>G | CA288187843 | TTC19 | c.113C>G (p.Pro38Arg) c.178C>G c.128C>G (p.Pro43Arg) c.160C>G n.138C>G c.-346C>G (n.-346C>G) | |
17 | g.15999961C>T | CA398382442 | TTC19 | c.113C>T (p.Pro38Leu) c.178C>T c.128C>T (p.Pro43Leu) c.160C>T n.138C>T c.-346C>T (n.-346C>T) | gnomAD v4 |