Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.15999853_15999877delinsTCCGGCTCCTGAGCTGGAGCCTGGGCA2249814948TTC19c.5_29delinsTCCGGCTCCTGAGCTGGAGCCTGGG (p.Phe2=)
c.70_94delinsTCCGGCTCCTGAGCTGGAGCCTGGG
c.20_44delinsTCCGGCTCCTGAGCTGGAGCCTGGG (p.Phe7=)
c.52_76delinsTCCGGCTCCTGAGCTGGAGCCTGGG
n.30_54delinsTCCGGCTCCTGAGCTGGAGCCTGGG
c.-454_-430delinsTCCGGCTCCTGAGCTGGAGCCTGGG (n.-454_-430delinsTCCGGCTCCTGAGCTGGAGCCTGGG)
17g.15999857_15999880delCA8407233TTC19c.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
17g.15999860_15999863delinsCCTGCA2249814955TTC19c.12_15delinsCCTG (p.Leu4=)
c.77_80delinsCCTG
c.27_30delinsCCTG (p.Leu9=)
c.59_62delinsCCTG
n.37_40delinsCCTG
c.-447_-444delinsCCTG (n.-447_-444delinsCCTG)
17g.15999861C>ACA398381856TTC19c.13C>A (p.Leu5Met)
c.78C>A
c.28C>A (p.Leu10Met)
c.60C>A
n.38C>A
c.-446C>A (n.-446C>A)
17g.15999861C>GCA398381858TTC19c.13C>G (p.Leu5Val)
c.78C>G
c.28C>G (p.Leu10Val)
c.60C>G
n.38C>G
c.-446C>G (n.-446C>G)
17g.15999861C>TCA498414285TTC19c.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
17g.15999861_15999863delCA919799546TTC19c.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
17g.15999862T>ACA398381860TTC19c.14T>A (p.Leu5Gln)
c.79T>A
c.29T>A (p.Leu10Gln)
c.61T>A
n.39T>A
c.-445T>A (n.-445T>A)
17g.15999862T>CCA398381865TTC19c.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
17g.15999862T>GCA398381872TTC19c.14T>G (p.Leu5Arg)
c.79T>G
c.29T>G (p.Leu10Arg)
c.61T>G
n.39T>G
c.-445T>G (n.-445T>G)
17g.15999862T=CA2249814956TTC19c.14T= (p.Leu5=)
c.79T=
c.29T= (p.Leu10=)
c.61T=
n.39T=
c.-445T= (n.-445T=)
17g.15999863G>ACA288187832TTC19c.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
17g.15999863G>CCA498414286TTC19c.15G>C (p.Leu5=)
c.80G>C
c.30G>C (p.Leu10=)
c.62G>C
n.40G>C
c.-444G>C (n.-444G>C)
17g.15999863G=CA2249814957TTC19c.15G= (p.Leu5=)
c.80G=
c.30G= (p.Leu10=)
c.62G=
n.40G=
c.-444G= (n.-444G=)
17g.15999863G>TCA498414287TTC19c.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
17g.15999864A>CCA398381875TTC19c.16A>C (p.Ser6Arg)
c.81A>C
c.31A>C (p.Ser11Arg)
c.63A>C
n.41A>C
c.-443A>C (n.-443A>C)
17g.15999864A>GCA398381879TTC19c.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
17g.15999864A>TCA398381880TTC19c.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
17g.15999864_15999867delinsAGCTCA2249814958TTC19c.16_19delinsAGCT (p.Ser6=)
c.81_84delinsAGCT
c.31_34delinsAGCT (p.Ser11=)
c.63_66delinsAGCT
n.41_44delinsAGCT
c.-443_-440delinsAGCT (n.-443_-440delinsAGCT)
17g.15999865G>ACA398381884TTC19c.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
17g.15999865G>CCA398381890TTC19c.17G>C (p.Ser6Thr)
c.82G>C
c.32G>C (p.Ser11Thr)
c.64G>C
n.42G>C
c.-442G>C (n.-442G>C)
17g.15999865G=CA2249814959TTC19c.17G= (p.Ser6=)
c.82G=
c.32G= (p.Ser11=)
c.64G=
n.42G=
c.-442G= (n.-442G=)
17g.15999865G>TCA398381893TTC19c.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
17g.15999866_15999868delCA919799548TTC19c.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
17g.15999866C>ACA398381898TTC19c.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
17g.15999866C=CA2249814960TTC19c.18C= (p.Ser6=)
c.83C=
c.33C= (p.Ser11=)
c.65C=
n.43C=
c.-441C= (n.-441C=)
17g.15999866C>GCA398381900TTC19c.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
17g.15999866C>TCA498414288TTC19c.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
17g.15999867T>ACA398381901TTC19c.19T>A (p.Trp7Arg)
c.84T>A
c.34T>A (p.Trp12Arg)
c.66T>A
n.44T>A
c.-440T>A (n.-440T>A)
17g.15999867T>CCA398381908TTC19c.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
17g.15999867T>GCA398381906TTC19c.19T>G (p.Trp7Gly)
c.84T>G
c.34T>G (p.Trp12Gly)
c.66T>G
n.44T>G
c.-440T>G (n.-440T>G)
17g.15999867T=CA2249814961TTC19c.19T= (p.Trp7=)
c.84T=
c.34T= (p.Trp12=)
c.66T=
n.44T=
c.-440T= (n.-440T=)
17g.15999868G>ACA398381910TTC19c.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
17g.15999868G>CCA398381912TTC19c.20G>C (p.Trp7Ser)
c.85G>C
c.35G>C (p.Trp12Ser)
c.67G>C
n.45G>C
c.-439G>C (n.-439G>C)
17g.15999868G>TCA398381913TTC19c.20G>T (p.Trp7Leu)
c.85G>T
c.35G>T (p.Trp12Leu)
c.67G>T
n.45G>T
c.-439G>T (n.-439G>T)
17g.15999869G>ACA398381915TTC19c.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
17g.15999869G>CCA398381916TTC19c.21G>C (p.Trp7Cys)
c.86G>C
c.36G>C (p.Trp12Cys)
c.68G>C
n.46G>C
c.-438G>C (n.-438G>C)
17g.15999869G=CA2249814962TTC19c.21G= (p.Trp7=)
c.86G=
c.36G= (p.Trp12=)
c.68G=
n.46G=
c.-438G= (n.-438G=)
17g.15999869G>TCA398381919TTC19c.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
17g.15999870A>CCA398381927TTC19c.22A>C (p.Ser8Arg)
c.87A>C
c.37A>C (p.Ser13Arg)
c.69A>C
n.47A>C
c.-437A>C (n.-437A>C)
17g.15999870A>GCA398381929TTC19c.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
17g.15999870A>TCA398381932TTC19c.22A>T (p.Ser8Cys)
c.87A>T
c.37A>T (p.Ser13Cys)
c.69A>T
n.47A>T
c.-437A>T (n.-437A>T)
17g.15999871G>ACA8407234TTC19c.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
17g.15999871G>CCA320090TTC19c.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
17g.15999871G=CA2249814963TTC19c.23G= (p.Ser8=)
c.88G=
c.38G= (p.Ser13=)
c.70G=
n.48G=
c.-436G= (n.-436G=)
17g.15999871G>TCA398381937TTC19c.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
17g.15999872C>ACA398381948TTC19c.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
17g.15999872C=CA2249814964TTC19c.24C= (p.Ser8=)
c.89C=
c.39C= (p.Ser13=)
c.71C=
n.49C=
c.-435C= (n.-435C=)
17g.15999872C>GCA398381951TTC19c.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
17g.15999872C>TCA8407235TTC19c.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
17g.15999873C>ACA398381952TTC19c.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
17g.15999873C=CA2249814965TTC19c.25C= (p.Leu9=)
c.90C=
c.40C= (p.Leu14=)
c.72C=
n.50C=
c.-434C= (n.-434C=)
17g.15999873C>GCA398381953TTC19c.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
17g.15999873C>TCA10649539TTC19c.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
17g.15999874T>ACA398381955TTC19c.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
17g.15999874T>CCA398381958TTC19c.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
17g.15999874T>GCA398381961TTC19c.26T>G (p.Leu9Arg)
c.91T>G
c.41T>G (p.Leu14Arg)
c.73T>G
n.51T>G
c.-433T>G (n.-433T>G)
17g.15999875G>ACA498414290TTC19c.27G>A (p.Leu9=)
c.92G>A
c.42G>A (p.Leu14=)
c.74G>A
n.52G>A
c.-432G>A (n.-432G>A)
17g.15999875G>CCA8407236TTC19c.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
17g.15999875G=CA2249814966TTC19c.27G= (p.Leu9=)
c.92G=
c.42G= (p.Leu14=)
c.74G=
n.52G=
c.-432G= (n.-432G=)
17g.15999875G>TCA498414289TTC19c.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
17g.15999876G>ACA398381964TTC19c.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
17g.15999876G>CCA398381967TTC19c.28G>C (p.Gly10Arg)
c.93G>C
c.43G>C (p.Gly15Arg)
c.75G>C
n.53G>C
c.-431G>C (n.-431G>C)
17g.15999876G=CA2249814967TTC19c.28G= (p.Gly10=)
c.93G=
c.43G= (p.Gly15=)
c.75G=
n.53G=
c.-431G= (n.-431G=)
17g.15999876G>TCA398381970TTC19c.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
17g.15999877G>ACA398381999TTC19c.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
17g.15999877G>CCA398381993TTC19c.29G>C (p.Gly10Ala)
c.94G>C
c.44G>C (p.Gly15Ala)
c.76G>C
n.54G>C
c.-430G>C (n.-430G>C)
17g.15999877G>TCA398381996TTC19c.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
17g.15999878C>ACA498414291TTC19c.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
17g.15999878C>GCA498414293TTC19c.30C>G (p.Gly10=)
c.95C>G
c.45C>G (p.Gly15=)
c.77C>G
n.55C>G
c.-429C>G (n.-429C>G)
17g.15999878C>TCA498414292TTC19c.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
17g.15999879C>ACA498414294TTC19c.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
17g.15999879C=CA2249814968TTC19c.31C= (p.Arg11=)
c.96C=
c.46C= (p.Arg16=)
c.78C=
n.56C=
c.-428C= (n.-428C=)
17g.15999879C>GCA398382006TTC19c.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
17g.15999879C>TCA398382008TTC19c.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
17g.15999880G>ACA398382012TTC19c.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
17g.15999880G>CCA398382015TTC19c.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
17g.15999880G=CA2249814969TTC19c.32G= (p.Arg11=)
c.97G=
c.47G= (p.Arg16=)
c.79G=
n.57G=
c.-427G= (n.-427G=)
17g.15999880G>TCA398382021TTC19c.32G>T (p.Arg11Leu)
c.97G>T
c.47G>T (p.Arg16Leu)
c.79G>T
n.57G>T
c.-427G>T (n.-427G>T)
17g.15999881A>CCA498414295TTC19c.33A>C (p.Arg11=)
c.98A>C
c.48A>C (p.Arg16=)
c.80A>C
n.58A>C
c.-426A>C (n.-426A>C)
17g.15999881A>GCA498414296TTC19c.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
17g.15999881A>TCA498414297TTC19c.33A>T (p.Arg11=)
c.98A>T
c.48A>T (p.Arg16=)
c.80A>T
n.58A>T
c.-426A>T (n.-426A>T)
17g.15999882G>ACA398382023TTC19c.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
17g.15999882G>CCA398382025TTC19c.34G>C (p.Gly12Arg)
c.99G>C
c.49G>C (p.Gly17Arg)
c.81G>C
n.59G>C
c.-425G>C (n.-425G>C)
17g.15999882G=CA2249814970TTC19c.34G= (p.Gly12=)
c.99G=
c.49G= (p.Gly17=)
c.81G=
n.59G=
c.-425G= (n.-425G=)
17g.15999882G>TCA398382027TTC19c.34G>T (p.Gly12Cys)
c.99G>T
c.49G>T (p.Gly17Cys)
c.81G>T
n.59G>T
c.-425G>T (n.-425G>T)
17g.15999883G>ACA398382034TTC19c.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
17g.15999883G>CCA398382036TTC19c.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
17g.15999883G=CA2249814971TTC19c.35G= (p.Gly12=)
c.100G=
c.50G= (p.Gly17=)
c.82G=
n.60G=
c.-424G= (n.-424G=)
17g.15999883G>TCA398382040TTC19c.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
17g.15999884C>ACA498414298TTC19c.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
17g.15999884C>GCA498414299TTC19c.36C>G (p.Gly12=)
c.101C>G
c.51C>G (p.Gly17=)
c.83C>G
n.61C>G
c.-423C>G (n.-423C>G)
17g.15999884C>TCA498414300TTC19c.36C>T (p.Gly12=)
c.101C>T
c.51C>T (p.Gly17=)
c.83C>T
n.61C>T
c.-423C>T (n.-423C>T)
17g.15999885T>ACA398382059TTC19c.37T>A (p.Phe13Ile)
c.102T>A
c.52T>A (p.Phe18Ile)
c.84T>A
n.62T>A
c.-422T>A (n.-422T>A)
17g.15999885T>CCA398382056TTC19c.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
17g.15999885T>GCA398382046TTC19c.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
17g.15999886T>ACA398382063TTC19c.38T>A (p.Phe13Tyr)
c.103T>A
c.53T>A (p.Phe18Tyr)
c.85T>A
n.63T>A
c.-421T>A (n.-421T>A)
17g.15999886T>CCA398382065TTC19c.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
17g.15999886T>GCA398382067TTC19c.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
17g.15999887C>ACA398382070TTC19c.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
17g.15999887C=CA2249814972TTC19c.39C= (p.Phe13=)
c.104C=
c.54C= (p.Phe18=)
c.86C=
n.64C=
c.-420C= (n.-420C=)
17g.15999887C>GCA398382071TTC19c.39C>G (p.Phe13Leu)
c.104C>G
c.54C>G (p.Phe18Leu)
c.86C>G
n.64C>G
c.-420C>G (n.-420C>G)
17g.15999887C>TCA498414301TTC19c.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
17g.15999888C>ACA398382074TTC19c.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
17g.15999888C=CA2249814973TTC19c.40C= (p.Leu14=)
c.105C=
c.55C= (p.Leu19=)
c.87C=
n.65C=
c.-419C= (n.-419C=)
17g.15999888C>GCA398382077TTC19c.40C>G (p.Leu14Val)
c.105C>G
c.55C>G (p.Leu19Val)
c.87C>G
n.65C>G
c.-419C>G (n.-419C>G)
17g.15999888C>TCA498414302TTC19c.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
17g.15999889T>ACA398382081TTC19c.41T>A (p.Leu14Gln)
c.106T>A
c.56T>A (p.Leu19Gln)
c.88T>A
n.66T>A
c.-418T>A (n.-418T>A)
17g.15999889T>CCA398382079TTC19c.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
17g.15999889T>GCA398382080TTC19c.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
17g.15999889T=CA2249814974TTC19c.41T= (p.Leu14=)
c.106T=
c.56T= (p.Leu19=)
c.88T=
n.66T=
c.-418T= (n.-418T=)
17g.15999890G>ACA498414303TTC19c.42G>A (p.Leu14=)
c.107G>A
c.57G>A (p.Leu19=)
c.89G>A
n.67G>A
c.-417G>A (n.-417G>A)
17g.15999890G>CCA498414304TTC19c.42G>C (p.Leu14=)
c.107G>C
c.57G>C (p.Leu19=)
c.89G>C
n.67G>C
c.-417G>C (n.-417G>C)
17g.15999890G>TCA498414305TTC19c.42G>T (p.Leu14=)
c.107G>T
c.57G>T (p.Leu19=)
c.89G>T
n.67G>T
c.-417G>T (n.-417G>T)
17g.15999891C>ACA498414306TTC19c.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
17g.15999891C>GCA398382082TTC19c.43C>G (p.Arg15Gly)
c.108C>G
c.58C>G (p.Arg20Gly)
c.90C>G
n.68C>G
c.-416C>G (n.-416C>G)
17g.15999891C>TCA398382083TTC19c.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
17g.15999892G>ACA398382086TTC19c.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
17g.15999892G>CCA398382088TTC19c.44G>C (p.Arg15Pro)
c.109G>C
c.59G>C (p.Arg20Pro)
c.91G>C
n.69G>C
c.-415G>C (n.-415G>C)
17g.15999892G>TCA398382090TTC19c.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
17g.15999893G>ACA498414307TTC19c.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
17g.15999893G>CCA498414308TTC19c.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
17g.15999893G>TCA498414309TTC19c.45G>T (p.Arg15=)
c.110G>T
c.60G>T (p.Arg20=)
c.92G>T
n.70G>T
c.-414G>T (n.-414G>T)
17g.15999894G>ACA398382092TTC19c.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
17g.15999894G>CCA398382100TTC19c.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
17g.15999894G=CA2249814975TTC19c.46G= (p.Ala16=)
c.111G=
c.61G= (p.Ala21=)
c.93G=
n.71G=
c.-413G= (n.-413G=)
17g.15999894G>TCA398382094TTC19c.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
17g.15999895C>ACA398382104TTC19c.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
17g.15999895C>GCA398382105TTC19c.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
17g.15999895C>TCA398382114TTC19c.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
17g.15999896C>ACA498414310TTC19c.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
17g.15999896C>GCA498414311TTC19c.48C>G (p.Ala16=)
c.113C>G
c.63C>G (p.Ala21=)
c.95C>G
n.73C>G
c.-411C>G (n.-411C>G)
17g.15999896C>TCA498414312TTC19c.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
17g.15999898_15999899delCA2636259685TTC19c.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
17g.15999897G>ACA398382116TTC19c.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
17g.15999897G>CCA398382118TTC19c.49G>C (p.Ala17Pro)
c.114G>C
c.64G>C (p.Ala22Pro)
c.96G>C
n.74G>C
c.-410G>C (n.-410G>C)
17g.15999897G=CA2249814976TTC19c.49G= (p.Ala17=)
c.114G=
c.64G= (p.Ala22=)
c.96G=
n.74G=
c.-410G= (n.-410G=)
17g.15999897G>TCA398382121TTC19c.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
17g.15999897dupCA2566747824TTC19c.49dup (p.Ala17GlyfsTer?)
c.114dup
c.64dup (p.Ala22GlyfsTer?)
c.96dup
n.74dup
c.-410dup (n.-410dup)
17g.15999898C>ACA398382124TTC19c.50C>A (p.Ala17Glu)
c.115C>A
c.65C>A (p.Ala22Glu)
c.97C>A
n.75C>A
c.-409C>A (n.-409C>A)
17g.15999898C=CA2249814977TTC19c.50C= (p.Ala17=)
c.115C=
c.65C= (p.Ala22=)
c.97C=
n.75C=
c.-409C= (n.-409C=)
17g.15999898C>GCA398382125TTC19c.50C>G (p.Ala17Gly)
c.115C>G
c.65C>G (p.Ala22Gly)
c.97C>G
n.75C>G
c.-409C>G (n.-409C>G)
17g.15999898C>TCA8407237TTC19c.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
17g.15999899G>ACA498414313TTC19c.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
17g.15999899G>CCA498414314TTC19c.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
17g.15999899G=CA2249814978TTC19c.51G= (p.Ala17=)
c.116G=
c.66G= (p.Ala22=)
c.98G=
n.76G=
c.-408G= (n.-408G=)
17g.15999899G>TCA498414315TTC19c.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
17g.15999902delCA2636259686TTC19c.54del (p.Arg19GlyfsTer?)
c.119del
c.69del (p.Arg24GlyfsTer?)
c.101del
n.79del
c.-405del (n.-405del)
gnomAD v4
17g.15999901_15999916delCA2636259687TTC19c.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
17g.15999900G>ACA398382130TTC19c.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
17g.15999900G>CCA398382131TTC19c.52G>C (p.Gly18Arg)
c.117G>C
c.67G>C (p.Gly23Arg)
c.99G>C
n.77G>C
c.-407G>C (n.-407G>C)
17g.15999900G>TCA398382134TTC19c.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
17g.15999901G>ACA398382139TTC19c.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
17g.15999901G>CCA398382145TTC19c.53G>C (p.Gly18Ala)
c.118G>C
c.68G>C (p.Gly23Ala)
c.100G>C
n.78G>C
c.-406G>C (n.-406G>C)
17g.15999901G>TCA398382142TTC19c.53G>T (p.Gly18Val)
c.118G>T
c.68G>T (p.Gly23Val)
c.100G>T
n.78G>T
c.-406G>T (n.-406G>T)
17g.15999902G>ACA498414316TTC19c.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
17g.15999902G>CCA498414317TTC19c.54G>C (p.Gly18=)
c.119G>C
c.69G>C (p.Gly23=)
c.101G>C
n.79G>C
c.-405G>C (n.-405G>C)
17g.15999902G>TCA498414318TTC19c.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
17g.15999903C>ACA498414319TTC19c.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
17g.15999903C>GCA398382146TTC19c.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
17g.15999903C>TCA398382147TTC19c.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
17g.15999904G>ACA398382148TTC19c.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
17g.15999904G>CCA398382149TTC19c.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
17g.15999904G>TCA398382152TTC19c.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
17g.15999905G>ACA498414320TTC19c.57G>A (p.Arg19=)
c.122G>A
c.72G>A (p.Arg24=)
c.104G>A
n.82G>A
c.-402G>A (n.-402G>A)
17g.15999905G>CCA498414321TTC19c.57G>C (p.Arg19=)
c.122G>C
c.72G>C (p.Arg24=)
c.104G>C
n.82G>C
c.-402G>C (n.-402G>C)
17g.15999905G>TCA498414322TTC19c.57G>T (p.Arg19=)
c.122G>T
c.72G>T (p.Arg24=)
c.104G>T
n.82G>T
c.-402G>T (n.-402G>T)
17g.15999906C>ACA498414323TTC19c.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
17g.15999906C=CA2249814979TTC19c.58C= (p.Arg20=)
c.123C=
c.73C= (p.Arg25=)
c.105C=
n.83C=
c.-401C= (n.-401C=)
17g.15999906C>GCA398382156TTC19c.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
17g.15999906C>TCA398382158TTC19c.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
17g.15999907G>ACA398382163TTC19c.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
17g.15999907G>CCA398382171TTC19c.59G>C (p.Arg20Pro)
c.124G>C
c.74G>C (p.Arg25Pro)
c.106G>C
n.84G>C
c.-400G>C (n.-400G>C)
17g.15999907G>TCA398382172TTC19c.59G>T (p.Arg20Leu)
c.124G>T
c.74G>T (p.Arg25Leu)
c.106G>T
n.84G>T
c.-400G>T (n.-400G>T)
17g.15999908G>ACA498414324TTC19c.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
17g.15999908G>CCA498414326TTC19c.60G>C (p.Arg20=)
c.125G>C
c.75G>C (p.Arg25=)
c.107G>C
n.85G>C
c.-399G>C (n.-399G>C)
17g.15999908G=CA2249814980TTC19c.60G= (p.Arg20=)
c.125G=
c.75G= (p.Arg25=)
c.107G=
n.85G=
c.-399G= (n.-399G=)
17g.15999908G>TCA498414325TTC19c.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
17g.15999909T>ACA398382173TTC19c.61T>A (p.Cys21Ser)
c.126T>A
c.76T>A (p.Cys26Ser)
c.108T>A
n.86T>A
c.-398T>A (n.-398T>A)
17g.15999909T>CCA398382174TTC19c.61T>C (p.Cys21Arg)
c.126T>C
c.76T>C (p.Cys26Arg)
c.108T>C
n.86T>C
c.-398T>C (n.-398T>C)
17g.15999909T>GCA398382175TTC19c.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
17g.15999909T=CA2249814981TTC19c.61T= (p.Cys21=)
c.126T=
c.76T= (p.Cys26=)
c.108T=
n.86T=
c.-398T= (n.-398T=)
17g.15999910G>ACA398382178TTC19c.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
17g.15999910G>CCA398382183TTC19c.62G>C (p.Cys21Ser)
c.127G>C
c.77G>C (p.Cys26Ser)
c.109G>C
n.87G>C
c.-397G>C (n.-397G>C)
17g.15999910G>TCA398382181TTC19c.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
17g.15999910_15999935delinsGCCGGGGCTGCTCCGCGCGCCTGCTCCA2249814982TTC19c.62_87delinsGCCGGGGCTGCTCCGCGCGCCTGCTC (p.Cys21=)
c.127_152delinsGCCGGGGCTGCTCCGCGCGCCTGCTC
c.77_102delinsGCCGGGGCTGCTCCGCGCGCCTGCTC (p.Cys26=)
c.109_134delinsGCCGGGGCTGCTCCGCGCGCCTGCTC
n.87_112delinsGCCGGGGCTGCTCCGCGCGCCTGCTC
c.-397_-372delinsGCCGGGGCTGCTCCGCGCGCCTGCTC (n.-397_-372delinsGCCGGGGCTGCTCCGCGCGCCTGCTC)
17g.15999911C>ACA398382185TTC19c.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
17g.15999911C=CA2249814983TTC19c.63C= (p.Cys21=)
c.128C=
c.78C= (p.Cys26=)
c.110C=
n.88C=
c.-396C= (n.-396C=)
17g.15999911C>GCA398382187TTC19c.63C>G (p.Cys21Trp)
c.128C>G
c.78C>G (p.Cys26Trp)
c.110C>G
n.88C>G
c.-396C>G (n.-396C>G)
17g.15999911C>TCA498414327TTC19c.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
17g.15999920_15999944delCA726478704TTC19c.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
17g.15999912C>ACA498414328TTC19c.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
17g.15999912C=CA2249814984TTC19c.64C= (p.Arg22=)
c.129C=
c.79C= (p.Arg27=)
c.111C=
n.89C=
c.-395C= (n.-395C=)
17g.15999912C>GCA398382189TTC19c.64C>G (p.Arg22Gly)
c.129C>G
c.79C>G (p.Arg27Gly)
c.111C>G
n.89C>G
c.-395C>G (n.-395C>G)
17g.15999912C>TCA398382190TTC19c.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
17g.15999914_15999926dupCA2636259688TTC19c.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
17g.15999913G>ACA398382192TTC19c.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
17g.15999913G>CCA398382195TTC19c.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
17g.15999913G=CA2249814985TTC19c.65G= (p.Arg22=)
c.130G=
c.80G= (p.Arg27=)
c.112G=
n.90G=
c.-394G= (n.-394G=)
17g.15999913G>TCA398382198TTC19c.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
17g.15999914G>ACA8407238TTC19c.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
17g.15999914G>CCA498414329TTC19c.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
17g.15999914G=CA2249814986TTC19c.66G= (p.Arg22=)
c.131G=
c.81G= (p.Arg27=)
c.113G=
n.91G=
c.-393G= (n.-393G=)
17g.15999914G>TCA498414330TTC19c.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
17g.15999915G>ACA398382206TTC19c.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
17g.15999915G>CCA398382207TTC19c.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
17g.15999915G=CA2249814987TTC19c.67G= (p.Gly23=)
c.132G=
c.82G= (p.Gly28=)
c.114G=
n.92G=
c.-392G= (n.-392G=)
17g.15999915G>TCA398382210TTC19c.67G>T (p.Gly23Cys)
c.132G>T
c.82G>T (p.Gly28Cys)
c.114G>T
n.92G>T
c.-392G>T (n.-392G>T)
17g.15999916G>ACA398382220TTC19c.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
17g.15999916G>CCA398382217TTC19c.68G>C (p.Gly23Ala)
c.133G>C
c.83G>C (p.Gly28Ala)
c.115G>C
n.93G>C
c.-391G>C (n.-391G>C)
17g.15999916G=CA2249814988TTC19c.68G= (p.Gly23=)
c.133G=
c.83G= (p.Gly28=)
c.115G=
n.93G=
c.-391G= (n.-391G=)
17g.15999916G>TCA398382214TTC19c.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
17g.15999917C>ACA498414331TTC19c.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
17g.15999917C=CA2249814989TTC19c.69C= (p.Gly23=)
c.134C=
c.84C= (p.Gly28=)
c.116C=
n.94C=
c.-390C= (n.-390C=)
17g.15999917C>GCA498414332TTC19c.69C>G (p.Gly23=)
c.134C>G
c.84C>G (p.Gly28=)
c.116C>G
n.94C>G
c.-390C>G (n.-390C>G)
17g.15999917C>TCA288187838TTC19c.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
17g.15999918T>ACA398382226TTC19c.70T>A (p.Cys24Ser)
c.135T>A
c.85T>A (p.Cys29Ser)
c.117T>A
n.95T>A
c.-389T>A (n.-389T>A)
17g.15999918T>CCA398382232TTC19c.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
17g.15999918T>GCA398382229TTC19c.70T>G (p.Cys24Gly)
c.135T>G
c.85T>G (p.Cys29Gly)
c.117T>G
n.95T>G
c.-389T>G (n.-389T>G)
17g.15999918T=CA2249814990TTC19c.70T= (p.Cys24=)
c.135T=
c.85T= (p.Cys29=)
c.117T=
n.95T=
c.-389T= (n.-389T=)
17g.15999919G>ACA398382236TTC19c.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
17g.15999919G>CCA398382238TTC19c.71G>C (p.Cys24Ser)
c.136G>C
c.86G>C (p.Cys29Ser)
c.118G>C
n.96G>C
c.-388G>C (n.-388G>C)
17g.15999919G=CA2249814991TTC19c.71G= (p.Cys24=)
c.136G=
c.86G= (p.Cys29=)
c.118G=
n.96G=
c.-388G= (n.-388G=)
17g.15999919G>TCA398382237TTC19c.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
17g.15999920C>ACA398382239TTC19c.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
17g.15999920C=CA2249814992TTC19c.72C= (p.Cys24=)
c.137C=
c.87C= (p.Cys29=)
c.119C=
n.97C=
c.-387C= (n.-387C=)
17g.15999920C>GCA398382240TTC19c.72C>G (p.Cys24Trp)
c.137C>G
c.87C>G (p.Cys29Trp)
c.119C>G
n.97C>G
c.-387C>G (n.-387C>G)
17g.15999920C>TCA498414333TTC19c.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
17g.15999921T>ACA398382243TTC19c.73T>A (p.Ser25Thr)
c.138T>A
c.88T>A (p.Ser30Thr)
c.120T>A
n.98T>A
c.-386T>A (n.-386T>A)
17g.15999921T>CCA398382244TTC19c.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
17g.15999921T>GCA398382245TTC19c.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
17g.15999921T=CA2249814993TTC19c.73T= (p.Ser25=)
c.138T=
c.88T= (p.Ser30=)
c.120T=
n.98T=
c.-386T= (n.-386T=)
17g.15999921_15999945delCA2636259689TTC19c.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
17g.15999922C>ACA398382246TTC19c.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
17g.15999922C>GCA398382247TTC19c.74C>G (p.Ser25Cys)
c.139C>G
c.89C>G (p.Ser30Cys)
c.121C>G
n.99C>G
c.-385C>G (n.-385C>G)
17g.15999922C>TCA398382248TTC19c.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
17g.15999923C>ACA498414334TTC19c.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
17g.15999923C=CA2249814994TTC19c.75C= (p.Ser25=)
c.140C=
c.90C= (p.Ser30=)
c.122C=
n.100C=
c.-384C= (n.-384C=)
17g.15999923C>GCA498414335TTC19c.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
17g.15999923C>TCA498414336TTC19c.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
17g.15999924G>ACA398382251TTC19c.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
17g.15999924G>CCA398382254TTC19c.76G>C (p.Ala26Pro)
c.141G>C
c.91G>C (p.Ala31Pro)
c.123G>C
n.101G>C
c.-383G>C (n.-383G>C)
17g.15999924G>TCA398382255TTC19c.76G>T (p.Ala26Ser)
c.141G>T
c.91G>T (p.Ala31Ser)
c.123G>T
n.101G>T
c.-383G>T (n.-383G>T)
17g.15999925C>ACA398382258TTC19c.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
17g.15999925C=CA2249814995TTC19c.77C= (p.Ala26=)
c.142C=
c.92C= (p.Ala31=)
c.124C=
n.102C=
c.-382C= (n.-382C=)
17g.15999925C>GCA398382257TTC19c.77C>G (p.Ala26Gly)
c.142C>G
c.92C>G (p.Ala31Gly)
c.124C>G
n.102C>G
c.-382C>G (n.-382C>G)
17g.15999925C>TCA398382256TTC19c.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
17g.15999926G>ACA498414337TTC19c.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
17g.15999926G>CCA498414338TTC19c.78G>C (p.Ala26=)
c.143G>C
c.93G>C (p.Ala31=)
c.125G>C
n.103G>C
c.-381G>C (n.-381G>C)
17g.15999926G=CA2249814996TTC19c.78G= (p.Ala26=)
c.143G=
c.93G= (p.Ala31=)
c.125G=
n.103G=
c.-381G= (n.-381G=)
17g.15999926G>TCA498414339TTC19c.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
17g.15999927C>ACA398382261TTC19c.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
17g.15999927C=CA2249814997TTC19c.79C= (p.Arg27=)
c.144C=
c.94C= (p.Arg32=)
c.126C=
n.104C=
c.-380C= (n.-380C=)
17g.15999927C>GCA398382263TTC19c.79C>G (p.Arg27Gly)
c.144C>G
c.94C>G (p.Arg32Gly)
c.126C>G
n.104C>G
c.-380C>G (n.-380C>G)
17g.15999927C>TCA398382264TTC19c.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
17g.15999928G>ACA398382267TTC19c.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
17g.15999928G>CCA398382274TTC19c.80G>C (p.Arg27Pro)
c.145G>C
c.95G>C (p.Arg32Pro)
c.127G>C
n.105G>C
c.-379G>C (n.-379G>C)
17g.15999928G=CA2249814998TTC19c.80G= (p.Arg27=)
c.145G=
c.95G= (p.Arg32=)
c.127G=
n.105G=
c.-379G= (n.-379G=)
17g.15999928G>TCA398382275TTC19c.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
17g.15999929C>ACA498414342TTC19c.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
17g.15999929C>GCA498414341TTC19c.81C>G (p.Arg27=)
c.146C>G
c.96C>G (p.Arg32=)
c.128C>G
n.106C>G
c.-378C>G (n.-378C>G)
17g.15999929C>TCA498414340TTC19c.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
17g.15999930C>ACA398382277TTC19c.82C>A (p.Leu28Met)
c.147C>A
c.97C>A (p.Leu33Met)
c.129C>A
n.107C>A
c.-377C>A (n.-377C>A)
17g.15999930C>GCA398382280TTC19c.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
17g.15999930C>TCA498414343TTC19c.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
17g.15999931T>ACA398382283TTC19c.83T>A (p.Leu28Gln)
c.148T>A
c.98T>A (p.Leu33Gln)
c.130T>A
n.108T>A
c.-376T>A (n.-376T>A)
17g.15999931T>CCA398382288TTC19c.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
17g.15999931T>GCA398382290TTC19c.83T>G (p.Leu28Arg)
c.148T>G
c.98T>G (p.Leu33Arg)
c.130T>G
n.108T>G
c.-376T>G (n.-376T>G)
17g.15999931T=CA2249814999TTC19c.83T= (p.Leu28=)
c.148T=
c.98T= (p.Leu33=)
c.130T=
n.108T=
c.-376T= (n.-376T=)
17g.15999932G>ACA498414344TTC19c.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
17g.15999932G>CCA498414345TTC19c.84G>C (p.Leu28=)
c.149G>C
c.99G>C (p.Leu33=)
c.131G>C
n.109G>C
c.-375G>C (n.-375G>C)
17g.15999932G>TCA498414346TTC19c.84G>T (p.Leu28=)
c.149G>T
c.99G>T (p.Leu33=)
c.131G>T
n.109G>T
c.-375G>T (n.-375G>T)
17g.15999933C>ACA398382300TTC19c.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
17g.15999933C=CA2249815000TTC19c.85C= (p.Leu29=)
c.150C=
c.100C= (p.Leu34=)
c.132C=
n.110C=
c.-374C= (n.-374C=)
17g.15999933C>GCA398382296TTC19c.85C>G (p.Leu29Val)
c.150C>G
c.100C>G (p.Leu34Val)
c.132C>G
n.110C>G
c.-374C>G (n.-374C>G)
17g.15999933C>TCA398382293TTC19c.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
17g.15999934T>ACA398382304TTC19c.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
17g.15999934T>CCA398382307TTC19c.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
17g.15999934T>GCA398382310TTC19c.86T>G (p.Leu29Arg)
c.151T>G
c.101T>G (p.Leu34Arg)
c.133T>G
n.111T>G
c.-373T>G (n.-373T>G)
17g.15999935C>ACA498414347TTC19c.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
17g.15999935C=CA2249815001TTC19c.87C= (p.Leu29=)
c.152C=
c.102C= (p.Leu34=)
c.134C=
n.112C=
c.-372C= (n.-372C=)
17g.15999935C>GCA498414348TTC19c.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
17g.15999935C>TCA8407239TTC19c.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
17g.15999936C>ACA398382313TTC19c.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
17g.15999936C>GCA398382315TTC19c.88C>G (p.Pro30Ala)
c.153C>G
c.103C>G (p.Pro35Ala)
c.135C>G
n.113C>G
c.-371C>G (n.-371C>G)
17g.15999936C>TCA398382316TTC19c.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
17g.15999937C>ACA398382319TTC19c.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
17g.15999937C=CA2249815002TTC19c.89C= (p.Pro30=)
c.154C=
c.104C= (p.Pro35=)
c.136C=
n.114C=
c.-370C= (n.-370C=)
17g.15999937C>GCA398382322TTC19c.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
17g.15999937C>TCA398382324TTC19c.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
17g.15999938G>ACA498414349TTC19c.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
17g.15999938G>CCA498414350TTC19c.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
17g.15999938G>TCA498414351TTC19c.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
17g.15999941delCA2636259690TTC19c.93del (p.Leu32TrpfsTer?)
c.158del
c.108del (p.Leu37TrpfsTer?)
c.140del
n.118del
c.-366del (n.-366del)
gnomAD v4
17g.15999939G>ACA398382327TTC19c.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
17g.15999939G>CCA398382330TTC19c.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
17g.15999939G=CA2249815003TTC19c.91G= (p.Gly31=)
c.156G=
c.106G= (p.Gly36=)
c.138G=
n.116G=
c.-368G= (n.-368G=)
17g.15999939G>TCA398382333TTC19c.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
17g.15999940G>ACA398382335TTC19c.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
17g.15999940G>CCA398382339TTC19c.92G>C (p.Gly31Ala)
c.157G>C
c.107G>C (p.Gly36Ala)
c.139G>C
n.117G>C
c.-367G>C (n.-367G>C)
17g.15999940G=CA2249815004TTC19c.92G= (p.Gly31=)
c.157G=
c.107G= (p.Gly36=)
c.139G=
n.117G=
c.-367G= (n.-367G=)
17g.15999940G>TCA398382337TTC19c.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
17g.15999941G>ACA498414352TTC19c.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
17g.15999941G>CCA498414353TTC19c.93G>C (p.Gly31=)
c.158G>C
c.108G>C (p.Gly36=)
c.140G>C
n.118G>C
c.-366G>C (n.-366G>C)
17g.15999941G>TCA498414354TTC19c.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
17g.15999942C>ACA398382340TTC19c.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
17g.15999942C=CA2249815005TTC19c.94C= (p.Leu32=)
c.159C=
c.109C= (p.Leu37=)
c.141C=
n.119C=
c.-365C= (n.-365C=)
17g.15999942C>GCA398382342TTC19c.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
17g.15999942C>TCA498414355TTC19c.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
17g.15999943T>ACA398382345TTC19c.95T>A (p.Leu32Gln)
c.160T>A
c.110T>A (p.Leu37Gln)
c.142T>A
n.120T>A
c.-364T>A (n.-364T>A)
17g.15999943T>CCA398382347TTC19c.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
17g.15999943T>GCA398382349TTC19c.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
17g.15999944G>ACA498414356TTC19c.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
17g.15999944G>CCA498414357TTC19c.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
17g.15999944G=CA2249815006TTC19c.96G= (p.Leu32=)
c.161G=
c.111G= (p.Leu37=)
c.143G=
n.121G=
c.-363G= (n.-363G=)
17g.15999944G>TCA498414358TTC19c.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
17g.15999945delCA2636259691TTC19c.97del (p.Ala33GlnfsTer?)
c.162del
c.112del (p.Ala38GlnfsTer?)
c.144del
n.122del
c.-362del (n.-362del)
gnomAD v4
17g.15999945G>ACA398382354TTC19c.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
17g.15999945G>CCA398382357TTC19c.97G>C (p.Ala33Pro)
c.162G>C
c.112G>C (p.Ala38Pro)
c.144G>C
n.122G>C
c.-362G>C (n.-362G>C)
17g.15999945G>TCA398382358TTC19c.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
17g.15999946C>ACA398382359TTC19c.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
17g.15999946C=CA2249815007TTC19c.98C= (p.Ala33=)
c.163C=
c.113C= (p.Ala38=)
c.145C=
n.123C=
c.-361C= (n.-361C=)
17g.15999946C>GCA398382360TTC19c.98C>G (p.Ala33Gly)
c.163C>G
c.113C>G (p.Ala38Gly)
c.145C>G
n.123C>G
c.-361C>G (n.-361C>G)
17g.15999946C>TCA398382362TTC19c.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
17g.15999947A>CCA498414359TTC19c.99A>C (p.Ala33=)
c.164A>C
c.114A>C (p.Ala38=)
c.146A>C
n.124A>C
c.-360A>C (n.-360A>C)
17g.15999947A>GCA498414360TTC19c.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
17g.15999947A>TCA498414361TTC19c.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
17g.15999948G>ACA398382370TTC19c.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
17g.15999948G>CCA398382367TTC19c.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
17g.15999948G>TCA398382364TTC19c.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
17g.15999949G>ACA398382375TTC19c.101G>A (p.Gly34Glu)
c.166G>A
c.116G>A (p.Gly39Glu)
c.148G>A
n.126G>A
c.-358G>A (n.-358G>A)
17g.15999949G>CCA398382372TTC19c.101G>C (p.Gly34Ala)
c.166G>C
c.116G>C (p.Gly39Ala)
c.148G>C
n.126G>C
c.-358G>C (n.-358G>C)
17g.15999949G>TCA398382378TTC19c.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
17g.15999950A>CCA498414362TTC19c.102A>C (p.Gly34=)
c.167A>C
c.117A>C (p.Gly39=)
c.149A>C
n.127A>C
c.-357A>C (n.-357A>C)
17g.15999950A>GCA498414364TTC19c.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
17g.15999950A>TCA498414363TTC19c.102A>T (p.Gly34=)
c.167A>T
c.117A>T (p.Gly39=)
c.149A>T
n.127A>T
c.-357A>T (n.-357A>T)
17g.15999951G>ACA398382380TTC19c.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
17g.15999951G>CCA398382382TTC19c.103G>C (p.Gly35Arg)
c.168G>C
c.118G>C (p.Gly40Arg)
c.150G>C
n.128G>C
c.-356G>C (n.-356G>C)
17g.15999951G>TCA398382388TTC19c.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
17g.15999952G>ACA398382391TTC19c.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
17g.15999952G>CCA398382393TTC19c.104G>C (p.Gly35Ala)
c.169G>C
c.119G>C (p.Gly40Ala)
c.151G>C
n.129G>C
c.-355G>C (n.-355G>C)
17g.15999952G>TCA398382396TTC19c.104G>T (p.Gly35Val)
c.169G>T
c.119G>T (p.Gly40Val)
c.151G>T
n.129G>T
c.-355G>T (n.-355G>T)
17g.15999953T>ACA498414365TTC19c.105T>A (p.Gly35=)
c.170T>A
c.120T>A (p.Gly40=)
c.152T>A
n.130T>A
c.-354T>A (n.-354T>A)
17g.15999953T>CCA498414366TTC19c.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
17g.15999953T>GCA498414367TTC19c.105T>G (p.Gly35=)
c.170T>G
c.120T>G (p.Gly40=)
c.152T>G
n.130T>G
c.-354T>G (n.-354T>G)
17g.15999954C>ACA398382398TTC19c.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
17g.15999954C>GCA398382401TTC19c.106C>G (p.Pro36Ala)
c.171C>G
c.121C>G (p.Pro41Ala)
c.153C>G
n.131C>G
c.-353C>G (n.-353C>G)
17g.15999954C>TCA398382404TTC19c.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
17g.15999963_16000009delCA2636259692TTC19c.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
17g.15999955C>ACA398382405TTC19c.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
17g.15999955C>GCA398382407TTC19c.107C>G (p.Pro36Arg)
c.172C>G
c.122C>G (p.Pro41Arg)
c.154C>G
n.132C>G
c.-352C>G (n.-352C>G)
17g.15999955C>TCA398382412TTC19c.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
17g.15999955_15999956delinsCGCA2249815008TTC19c.107_108delinsCG (p.Pro36=)
c.172_173delinsCG
c.122_123delinsCG (p.Pro41=)
c.154_155delinsCG
n.132_133delinsCG
c.-352_-351delinsCG (n.-352_-351delinsCG)
17g.15999955_15999956insTCA2808602891TTC19c.107_108insT (p.Pro38AlafsTer?)
c.172_173insT
c.122_123insT (p.Pro43AlafsTer?)
c.154_155insT
n.132_133insT
c.-352_-351insT (n.-352_-351insT)
17g.15999956G>ACA498414368TTC19c.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
17g.15999956G>CCA498414369TTC19c.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
17g.15999956G=CA2249815009TTC19c.108G= (p.Pro36=)
c.173G=
c.123G= (p.Pro41=)
c.155G=
n.133G=
c.-351G= (n.-351G=)
17g.15999956G>TCA498414370TTC19c.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
17g.15999959delCA625312128TTC19c.111del (p.Glu39ArgfsTer?)
c.176del
c.126del (p.Glu44ArgfsTer?)
c.158del
n.136del
c.-348del (n.-348del)
dbSNP gnomAD v2 gnomAD v4
17g.15999957G>ACA398382420TTC19c.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
17g.15999957G>CCA398382418TTC19c.109G>C (p.Gly37Arg)
c.174G>C
c.124G>C (p.Gly42Arg)
c.156G>C
n.134G>C
c.-350G>C (n.-350G>C)
17g.15999957G=CA2249815010TTC19c.109G= (p.Gly37=)
c.174G=
c.124G= (p.Gly42=)
c.156G=
n.134G=
c.-350G= (n.-350G=)
17g.15999957G>TCA398382415TTC19c.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
17g.15999958G>ACA398382424TTC19c.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
17g.15999958G>CCA398382426TTC19c.110G>C (p.Gly37Ala)
c.175G>C
c.125G>C (p.Gly42Ala)
c.157G>C
n.135G>C
c.-349G>C (n.-349G>C)
17g.15999958G>TCA398382428TTC19c.110G>T (p.Gly37Val)
c.175G>T
c.125G>T (p.Gly42Val)
c.157G>T
n.135G>T
c.-349G>T (n.-349G>T)
17g.15999959G>ACA498414371TTC19c.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
17g.15999959G>CCA498414372TTC19c.111G>C (p.Gly37=)
c.176G>C
c.126G>C (p.Gly42=)
c.158G>C
n.136G>C
c.-348G>C (n.-348G>C)
17g.15999959G>TCA498414373TTC19c.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
17g.15999960C>ACA288187841TTC19c.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
17g.15999960C=CA2249815011TTC19c.112C= (p.Pro38=)
c.177C=
c.127C= (p.Pro43=)
c.159C=
n.137C=
c.-347C= (n.-347C=)
17g.15999960C>GCA398382431TTC19c.112C>G (p.Pro38Ala)
c.177C>G
c.127C>G (p.Pro43Ala)
c.159C>G
n.137C>G
c.-347C>G (n.-347C>G)
17g.15999960C>TCA398382433TTC19c.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
17g.15999962delCA2576180961TTC19c.114del (p.Glu39ArgfsTer?)
c.179del
c.129del (p.Glu44ArgfsTer?)
c.161del
n.139del
c.-345del (n.-345del)
gnomAD v4
17g.15999961C>ACA398382438TTC19c.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
17g.15999961C>GCA288187843TTC19c.113C>G (p.Pro38Arg)
c.178C>G
c.128C>G (p.Pro43Arg)
c.160C>G
n.138C>G
c.-346C>G (n.-346C>G)
17g.15999961C>TCA398382442TTC19c.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

Number of alleles fetched