Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.62998900G>ACA599799231SLC22A8c.761+21C>T (n.761+21C>T)
c.392+21C>T (n.392+21C>T)
n.579+21C>T
n.482+21C>T
n.601+21C>T
c.488+21C>T (n.488+21C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62998900G>CCA1978015752SLC22A8c.761+21C>G (n.761+21C>G)
c.392+21C>G (n.392+21C>G)
n.579+21C>G
n.482+21C>G
n.601+21C>G
c.488+21C>G (n.488+21C>G)
dbSNP
11g.62998900G=CA1978015750SLC22A8c.761+21C= (n.761+21C=)
c.392+21C= (n.392+21C=)
n.579+21C=
n.482+21C=
n.601+21C=
c.488+21C= (n.488+21C=)
11g.62998900_62998901insTCA938700669SLC22A8c.761+20_761+21insA (n.761+20_761+21insA)
c.392+20_392+21insA (n.392+20_392+21insA)
n.579+20_579+21insA
n.482+20_482+21insA
n.601+20_601+21insA
c.488+20_488+21insA (n.488+20_488+21insA)
dbSNP gnomAD v3 gnomAD v4
11g.62998902A=CA1978015753SLC22A8c.761+19T= (n.761+19T=)
c.392+19T= (n.392+19T=)
n.579+19T=
n.482+19T=
n.601+19T=
c.488+19T= (n.488+19T=)
11g.62998902A>GCA6059843SLC22A8c.761+19T>C (n.761+19T>C)
c.392+19T>C (n.392+19T>C)
n.579+19T>C
n.482+19T>C
n.601+19T>C
c.488+19T>C (n.488+19T>C)
dbSNP ExAC gnomAD v2
11g.62998903G>TCA2553696597SLC22A8c.761+18C>A (n.761+18C>A)
c.392+18C>A (n.392+18C>A)
n.579+18C>A
n.482+18C>A
n.601+18C>A
c.488+18C>A (n.488+18C>A)
gnomAD v4
11g.62998904A=CA1978015756SLC22A8c.761+17T= (n.761+17T=)
c.392+17T= (n.392+17T=)
n.579+17T=
n.482+17T=
n.601+17T=
c.488+17T= (n.488+17T=)
11g.62998904A>GCA1978015757SLC22A8c.761+17T>C (n.761+17T>C)
c.392+17T>C (n.392+17T>C)
n.579+17T>C
n.482+17T>C
n.601+17T>C
c.488+17T>C (n.488+17T>C)
dbSNP
11g.62998905G>ACA2614035495SLC22A8c.761+16C>T (n.761+16C>T)
c.392+16C>T (n.392+16C>T)
n.579+16C>T
n.482+16C>T
n.601+16C>T
c.488+16C>T (n.488+16C>T)
gnomAD v4
11g.62998906G>ACA2614035496SLC22A8c.761+15C>T (n.761+15C>T)
c.392+15C>T (n.392+15C>T)
n.579+15C>T
n.482+15C>T
n.601+15C>T
c.488+15C>T (n.488+15C>T)
gnomAD v4
11g.62998907A=CA1978015761SLC22A8c.761+14T= (n.761+14T=)
c.392+14T= (n.392+14T=)
n.579+14T=
n.482+14T=
n.601+14T=
c.488+14T= (n.488+14T=)
11g.62998907A>GCA1978015762SLC22A8c.761+14T>C (n.761+14T>C)
c.392+14T>C (n.392+14T>C)
n.579+14T>C
n.482+14T>C
n.601+14T>C
c.488+14T>C (n.488+14T>C)
dbSNP gnomAD v4
11g.62998908G>CCA1978015765SLC22A8c.761+13C>G (n.761+13C>G)
c.392+13C>G (n.392+13C>G)
n.579+13C>G
n.482+13C>G
n.601+13C>G
c.488+13C>G (n.488+13C>G)
dbSNP gnomAD v4
11g.62998908G=CA1978015764SLC22A8c.761+13C= (n.761+13C=)
c.392+13C= (n.392+13C=)
n.579+13C=
n.482+13C=
n.601+13C=
c.488+13C= (n.488+13C=)
11g.62998910G>CCA2614035497SLC22A8c.761+11C>G (n.761+11C>G)
c.392+11C>G (n.392+11C>G)
n.579+11C>G
n.482+11C>G
n.601+11C>G
c.488+11C>G (n.488+11C>G)
gnomAD v4
11g.62998910G>TCA2614035498SLC22A8c.761+11C>A (n.761+11C>A)
c.392+11C>A (n.392+11C>A)
n.579+11C>A
n.482+11C>A
n.601+11C>A
c.488+11C>A (n.488+11C>A)
gnomAD v4
11g.62998911G>ACA679096271SLC22A8c.761+10C>T (n.761+10C>T)
c.392+10C>T (n.392+10C>T)
n.579+10C>T
n.482+10C>T
n.601+10C>T
c.488+10C>T (n.488+10C>T)
dbSNP gnomAD v3 gnomAD v4
11g.62998911G=CA1978015769SLC22A8c.761+10C= (n.761+10C=)
c.392+10C= (n.392+10C=)
n.579+10C=
n.482+10C=
n.601+10C=
c.488+10C= (n.488+10C=)
11g.62998912G>ACA2614035499SLC22A8c.761+9C>T (n.761+9C>T)
c.392+9C>T (n.392+9C>T)
n.579+9C>T
n.482+9C>T
n.601+9C>T
c.488+9C>T (n.488+9C>T)
gnomAD v4
11g.62998912G>CCA2614035500SLC22A8c.761+9C>G (n.761+9C>G)
c.392+9C>G (n.392+9C>G)
n.579+9C>G
n.482+9C>G
n.601+9C>G
c.488+9C>G (n.488+9C>G)
gnomAD v4
11g.62998913C>ACA2614035501SLC22A8c.761+8G>T (n.761+8G>T)
c.392+8G>T (n.392+8G>T)
n.579+8G>T
n.482+8G>T
n.601+8G>T
c.488+8G>T (n.488+8G>T)
gnomAD v4
11g.62998913C>GCA2614035503SLC22A8c.761+8G>C (n.761+8G>C)
c.392+8G>C (n.392+8G>C)
n.579+8G>C
n.482+8G>C
n.601+8G>C
c.488+8G>C (n.488+8G>C)
gnomAD v4
11g.62998913C>TCA2614035502SLC22A8c.761+8G>A (n.761+8G>A)
c.392+8G>A (n.392+8G>A)
n.579+8G>A
n.482+8G>A
n.601+8G>A
c.488+8G>A (n.488+8G>A)
gnomAD v4
11g.62998915A=CA1978015773SLC22A8c.761+6T= (n.761+6T=)
c.392+6T= (n.392+6T=)
n.579+6T=
n.482+6T=
n.601+6T=
c.488+6T= (n.488+6T=)
11g.62998915A>GCA1978015774SLC22A8c.761+6T>C (n.761+6T>C)
c.392+6T>C (n.392+6T>C)
n.579+6T>C
n.482+6T>C
n.601+6T>C
c.488+6T>C (n.488+6T>C)
dbSNP
11g.62998917A=CA1978015776SLC22A8c.761+4T= (n.761+4T=)
c.392+4T= (n.392+4T=)
n.579+4T=
n.482+4T=
n.601+4T=
c.488+4T= (n.488+4T=)
11g.62998917A>GCA599799232SLC22A8c.761+4T>C (n.761+4T>C)
c.392+4T>C (n.392+4T>C)
n.579+4T>C
n.482+4T>C
n.601+4T>C
c.488+4T>C (n.488+4T>C)
dbSNP gnomAD v2 gnomAD v4
11g.62998917A>TCA6059844SLC22A8c.761+4T>A (n.761+4T>A)
c.392+4T>A (n.392+4T>A)
n.579+4T>A
n.482+4T>A
n.601+4T>A
c.488+4T>A (n.488+4T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.62998918T>CCA1978015779SLC22A8c.761+3A>G (n.761+3A>G)
c.392+3A>G (n.392+3A>G)
n.579+3A>G
n.482+3A>G
n.601+3A>G
c.488+3A>G (n.488+3A>G)
dbSNP
11g.62998918T=CA1978015781SLC22A8c.761+3A= (n.761+3A=)
c.392+3A= (n.392+3A=)
n.579+3A=
n.482+3A=
n.601+3A=
c.488+3A= (n.488+3A=)
11g.62998919A>CCA380983666SLC22A8c.761+2T>G (n.761+2T>G)
c.392+2T>G (n.392+2T>G)
n.579+2T>G
n.482+2T>G
n.601+2T>G
c.488+2T>G (n.488+2T>G)
11g.62998919A>GCA380983670SLC22A8c.761+2T>C (n.761+2T>C)
c.392+2T>C (n.392+2T>C)
n.579+2T>C
n.482+2T>C
n.601+2T>C
c.488+2T>C (n.488+2T>C)
11g.62998919A>TCA380983667SLC22A8c.761+2T>A (n.761+2T>A)
c.392+2T>A (n.392+2T>A)
n.579+2T>A
n.482+2T>A
n.601+2T>A
c.488+2T>A (n.488+2T>A)
11g.62998920C>ACA380983673SLC22A8c.761+1G>T (n.761+1G>T)
c.392+1G>T (n.392+1G>T)
n.579+1G>T
n.482+1G>T
n.601+1G>T
c.488+1G>T (n.488+1G>T)
gnomAD v4
11g.62998920C=CA1978015784SLC22A8c.761+1G= (n.761+1G=)
c.392+1G= (n.392+1G=)
n.579+1G=
n.482+1G=
n.601+1G=
c.488+1G= (n.488+1G=)
11g.62998920C>GCA380983674SLC22A8c.761+1G>C (n.761+1G>C)
c.392+1G>C (n.392+1G>C)
n.579+1G>C
n.482+1G>C
n.601+1G>C
c.488+1G>C (n.488+1G>C)
11g.62998920C>TCA6059845SLC22A8c.761+1G>A (n.761+1G>A)
c.392+1G>A (n.392+1G>A)
n.579+1G>A
n.482+1G>A
n.601+1G>A
c.488+1G>A (n.488+1G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.62998921C>ACA380983682SLC22A8c.761G>T (p.Trp254Leu)
c.392G>T (p.Trp131Leu)
n.579G>T
n.482G>T
n.601G>T
c.488G>T (p.Trp163Leu)
11g.62998921C=CA1978015788SLC22A8c.761G= (p.Trp254=)
c.392G= (p.Trp131=)
n.579G=
n.482G=
n.601G=
c.488G= (p.Trp163=)
11g.62998921C>GCA6059846SLC22A8c.761G>C (p.Trp254Ser)
c.392G>C (p.Trp131Ser)
n.579G>C
n.482G>C
n.601G>C
c.488G>C (p.Trp163Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.62998921C>TCA380983683SLC22A8c.761G>A (p.Trp254Ter)
c.392G>A (p.Trp131Ter)
n.579G>A
n.482G>A
n.601G>A
c.488G>A (p.Trp163Ter)
gnomAD v4
11g.62998921_62998922delinsCACA1978015787SLC22A8c.760_761delinsTG (p.Trp254=)
c.391_392delinsTG (p.Trp131=)
n.578_579delinsTG
n.481_482delinsTG
n.600_601delinsTG
c.487_488delinsTG (p.Trp163=)
11g.62998922delCA6059847SLC22A8c.760del (p.Trp254GlyfsTer20)
c.391del (p.Trp131GlyfsTer20)
n.578del
n.481del
n.600del
c.487del (p.Trp163GlyfsTer20)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.62998922A>CCA380983692SLC22A8c.760T>G (p.Trp254Gly)
c.391T>G (p.Trp131Gly)
n.578T>G
n.481T>G
n.600T>G
c.487T>G (p.Trp163Gly)
11g.62998922A>GCA380983686SLC22A8c.760T>C (p.Trp254Arg)
c.391T>C (p.Trp131Arg)
n.578T>C
n.481T>C
n.600T>C
c.487T>C (p.Trp163Arg)
gnomAD v4
11g.62998922A>TCA380983689SLC22A8c.760T>A (p.Trp254Arg)
c.391T>A (p.Trp131Arg)
n.578T>A
n.481T>A
n.600T>A
c.487T>A (p.Trp163Arg)
11g.62998923G>ACA474856974SLC22A8c.759C>T (p.Ser253=)
c.390C>T (p.Ser130=)
n.577C>T
n.480C>T
n.599C>T
c.486C>T (p.Ser162=)
COSMIC
11g.62998923G>CCA474856973SLC22A8c.759C>G (p.Ser253=)
c.390C>G (p.Ser130=)
n.577C>G
n.480C>G
n.599C>G
c.486C>G (p.Ser162=)
11g.62998923G>TCA474856972SLC22A8c.759C>A (p.Ser253=)
c.390C>A (p.Ser130=)
n.577C>A
n.480C>A
n.599C>A
c.486C>A (p.Ser162=)
11g.62998924delCA380983695SLC22A8c.759del (p.Trp254GlyfsTer20)
c.390del (p.Trp131GlyfsTer20)
n.577del
n.480del
n.599del
c.486del (p.Trp163GlyfsTer20)
11g.62998924G>ACA380983697SLC22A8c.758C>T (p.Ser253Phe)
c.389C>T (p.Ser130Phe)
n.576C>T
n.479C>T
n.598C>T
c.485C>T (p.Ser162Phe)
11g.62998924G>CCA380983699SLC22A8c.758C>G (p.Ser253Cys)
c.389C>G (p.Ser130Cys)
n.576C>G
n.479C>G
n.598C>G
c.485C>G (p.Ser162Cys)
11g.62998924G>TCA380983702SLC22A8c.758C>A (p.Ser253Tyr)
c.389C>A (p.Ser130Tyr)
n.576C>A
n.479C>A
n.598C>A
c.485C>A (p.Ser162Tyr)
gnomAD v4
11g.62998925A>CCA380983705SLC22A8c.757T>G (p.Ser253Ala)
c.388T>G (p.Ser130Ala)
n.575T>G
n.478T>G
n.597T>G
c.484T>G (p.Ser162Ala)
11g.62998925A>GCA380983708SLC22A8c.757T>C (p.Ser253Pro)
c.388T>C (p.Ser130Pro)
n.575T>C
n.478T>C
n.597T>C
c.484T>C (p.Ser162Pro)
gnomAD v4
11g.62998925A>TCA380983706SLC22A8c.757T>A (p.Ser253Thr)
c.388T>A (p.Ser130Thr)
n.575T>A
n.478T>A
n.597T>A
c.484T>A (p.Ser162Thr)
11g.62998926T>ACA474856975SLC22A8c.756A>T (p.Ser252=)
c.387A>T (p.Ser129=)
n.574A>T
n.477A>T
n.596A>T
c.483A>T (p.Ser161=)
11g.62998926T>CCA474856977SLC22A8c.756A>G (p.Ser252=)
c.387A>G (p.Ser129=)
n.574A>G
n.477A>G
n.596A>G
c.483A>G (p.Ser161=)
11g.62998926T>GCA474856976SLC22A8c.756A>C (p.Ser252=)
c.387A>C (p.Ser129=)
n.574A>C
n.477A>C
n.596A>C
c.483A>C (p.Ser161=)
11g.62998927G>ACA6059848SLC22A8c.755C>T (p.Ser252Leu)
c.386C>T (p.Ser129Leu)
n.573C>T
n.476C>T
n.595C>T
c.482C>T (p.Ser161Leu)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.62998927G>CCA380983714SLC22A8c.755C>G (p.Ser252Ter)
c.386C>G (p.Ser129Ter)
n.573C>G
n.476C>G
n.595C>G
c.482C>G (p.Ser161Ter)
11g.62998927G=CA1978015797SLC22A8c.755C= (p.Ser252=)
c.386C= (p.Ser129=)
n.573C=
n.476C=
n.595C=
c.482C= (p.Ser161=)
11g.62998927G>TCA380983716SLC22A8c.755C>A (p.Ser252Ter)
c.386C>A (p.Ser129Ter)
n.573C>A
n.476C>A
n.595C>A
c.482C>A (p.Ser161Ter)
gnomAD v4
11g.62998928A>CCA380983718SLC22A8c.754T>G (p.Ser252Ala)
c.385T>G (p.Ser129Ala)
n.572T>G
n.475T>G
n.594T>G
c.481T>G (p.Ser161Ala)
11g.62998928A>GCA380983721SLC22A8c.754T>C (p.Ser252Pro)
c.385T>C (p.Ser129Pro)
n.572T>C
n.475T>C
n.594T>C
c.481T>C (p.Ser161Pro)
gnomAD v4
11g.62998928A>TCA380983723SLC22A8c.754T>A (p.Ser252Thr)
c.385T>A (p.Ser129Thr)
n.572T>A
n.475T>A
n.594T>A
c.481T>A (p.Ser161Thr)
11g.62998929T>ACA474856984SLC22A8c.753A>T (p.Leu251=)
c.384A>T (p.Leu128=)
n.571A>T
n.474A>T
n.593A>T
c.480A>T (p.Leu160=)
11g.62998929T>CCA474856985SLC22A8c.753A>G (p.Leu251=)
c.384A>G (p.Leu128=)
n.571A>G
n.474A>G
n.593A>G
c.480A>G (p.Leu160=)
dbSNP gnomAD v3 gnomAD v4
11g.62998929T>GCA474856986SLC22A8c.753A>C (p.Leu251=)
c.384A>C (p.Leu128=)
n.571A>C
n.474A>C
n.593A>C
c.480A>C (p.Leu160=)
11g.62998929T=CA1978015800SLC22A8c.753A= (p.Leu251=)
c.384A= (p.Leu128=)
n.571A=
n.474A=
n.593A=
c.480A= (p.Leu160=)
11g.62998930A>CCA380983725SLC22A8c.752T>G (p.Leu251Arg)
c.383T>G (p.Leu128Arg)
n.570T>G
n.473T>G
n.592T>G
c.479T>G (p.Leu160Arg)
11g.62998930A>GCA380983727SLC22A8c.752T>C (p.Leu251Pro)
c.383T>C (p.Leu128Pro)
n.570T>C
n.473T>C
n.592T>C
c.479T>C (p.Leu160Pro)
gnomAD v4
11g.62998930A>TCA380983729SLC22A8c.752T>A (p.Leu251Gln)
c.383T>A (p.Leu128Gln)
n.570T>A
n.473T>A
n.592T>A
c.479T>A (p.Leu160Gln)
11g.62998931G>ACA474856988SLC22A8c.751C>T (p.Leu251=)
c.382C>T (p.Leu128=)
n.569C>T
n.472C>T
n.591C>T
c.478C>T (p.Leu160=)
11g.62998931G>CCA380983730SLC22A8c.751C>G (p.Leu251Val)
c.382C>G (p.Leu128Val)
n.569C>G
n.472C>G
n.591C>G
c.478C>G (p.Leu160Val)
11g.62998931G>TCA380983732SLC22A8c.751C>A (p.Leu251Ile)
c.382C>A (p.Leu128Ile)
n.569C>A
n.472C>A
n.591C>A
c.478C>A (p.Leu160Ile)
11g.62998932G>ACA223625747SLC22A8c.750C>T (p.Phe250=)
c.381C>T (p.Phe127=)
n.568C>T
n.471C>T
n.590C>T
c.477C>T (p.Phe159=)
dbSNP COSMIC
11g.62998932G>CCA380983738SLC22A8c.750C>G (p.Phe250Leu)
c.381C>G (p.Phe127Leu)
n.568C>G
n.471C>G
n.590C>G
c.477C>G (p.Phe159Leu)
11g.62998932G=CA1978015803SLC22A8c.750C= (p.Phe250=)
c.381C= (p.Phe127=)
n.568C=
n.471C=
n.590C=
c.477C= (p.Phe159=)
11g.62998932G>TCA380983736SLC22A8c.750C>A (p.Phe250Leu)
c.381C>A (p.Phe127Leu)
n.568C>A
n.471C>A
n.590C>A
c.477C>A (p.Phe159Leu)
11g.62998939_62998947dupCA2614035504SLC22A8c.742_750dup (p.Phe250_Leu251insValPhePhe)
c.373_381dup (p.Phe127_Leu128insValPhePhe)
n.560_568dup
n.463_471dup
n.582_590dup
c.469_477dup (p.Phe159_Leu160insValPhePhe)
gnomAD v4
11g.62998933A>CCA380983739SLC22A8c.749T>G (p.Phe250Cys)
c.380T>G (p.Phe127Cys)
n.567T>G
n.470T>G
n.589T>G
c.476T>G (p.Phe159Cys)
11g.62998933A>GCA380983743SLC22A8c.749T>C (p.Phe250Ser)
c.380T>C (p.Phe127Ser)
n.567T>C
n.470T>C
n.589T>C
c.476T>C (p.Phe159Ser)
11g.62998933A>TCA380983741SLC22A8c.749T>A (p.Phe250Tyr)
c.380T>A (p.Phe127Tyr)
n.567T>A
n.470T>A
n.589T>A
c.476T>A (p.Phe159Tyr)
11g.62998934A=CA1978015804SLC22A8c.748T= (p.Phe250=)
c.379T= (p.Phe127=)
n.566T=
n.469T=
n.588T=
c.475T= (p.Phe159=)
11g.62998934A>CCA380983746SLC22A8c.748T>G (p.Phe250Val)
c.379T>G (p.Phe127Val)
n.566T>G
n.469T>G
n.588T>G
c.475T>G (p.Phe159Val)
dbSNP
11g.62998934A>GCA380983748SLC22A8c.748T>C (p.Phe250Leu)
c.379T>C (p.Phe127Leu)
n.566T>C
n.469T>C
n.588T>C
c.475T>C (p.Phe159Leu)
11g.62998934A>TCA380983750SLC22A8c.748T>A (p.Phe250Ile)
c.379T>A (p.Phe127Ile)
n.566T>A
n.469T>A
n.588T>A
c.475T>A (p.Phe159Ile)
11g.62998935G>ACA474856992SLC22A8c.747C>T (p.Phe249=)
c.378C>T (p.Phe126=)
n.565C>T
n.468C>T
n.587C>T
c.474C>T (p.Phe158=)
gnomAD v4 COSMIC
11g.62998935G>CCA380983753SLC22A8c.747C>G (p.Phe249Leu)
c.378C>G (p.Phe126Leu)
n.565C>G
n.468C>G
n.587C>G
c.474C>G (p.Phe158Leu)
11g.62998935G>TCA380983755SLC22A8c.747C>A (p.Phe249Leu)
c.378C>A (p.Phe126Leu)
n.565C>A
n.468C>A
n.587C>A
c.474C>A (p.Phe158Leu)
11g.62998936A>CCA380983759SLC22A8c.746T>G (p.Phe249Cys)
c.377T>G (p.Phe126Cys)
n.564T>G
n.467T>G
n.586T>G
c.473T>G (p.Phe158Cys)
11g.62998936A>GCA380983761SLC22A8c.746T>C (p.Phe249Ser)
c.377T>C (p.Phe126Ser)
n.564T>C
n.467T>C
n.586T>C
c.473T>C (p.Phe158Ser)
11g.62998936A>TCA380983762SLC22A8c.746T>A (p.Phe249Tyr)
c.377T>A (p.Phe126Tyr)
n.564T>A
n.467T>A
n.586T>A
c.473T>A (p.Phe158Tyr)
11g.62998937A>CCA380983765SLC22A8c.745T>G (p.Phe249Val)
c.376T>G (p.Phe126Val)
n.563T>G
n.466T>G
n.585T>G
c.472T>G (p.Phe158Val)
11g.62998937A>GCA380983768SLC22A8c.745T>C (p.Phe249Leu)
c.376T>C (p.Phe126Leu)
n.563T>C
n.466T>C
n.585T>C
c.472T>C (p.Phe158Leu)
11g.62998937A>TCA380983769SLC22A8c.745T>A (p.Phe249Ile)
c.376T>A (p.Phe126Ile)
n.563T>A
n.466T>A
n.585T>A
c.472T>A (p.Phe158Ile)
11g.62998938G>ACA474856997SLC22A8c.744C>T (p.Val248=)
c.375C>T (p.Val125=)
n.562C>T
n.465C>T
n.584C>T
c.471C>T (p.Val157=)
11g.62998938G>CCA474856998SLC22A8c.744C>G (p.Val248=)
c.375C>G (p.Val125=)
n.562C>G
n.465C>G
n.584C>G
c.471C>G (p.Val157=)
11g.62998938G>TCA474856999SLC22A8c.744C>A (p.Val248=)
c.375C>A (p.Val125=)
n.562C>A
n.465C>A
n.584C>A
c.471C>A (p.Val157=)
11g.62998939A>CCA380983776SLC22A8c.743T>G (p.Val248Gly)
c.374T>G (p.Val125Gly)
n.561T>G
n.464T>G
n.583T>G
c.470T>G (p.Val157Gly)
11g.62998939A>GCA380983774SLC22A8c.743T>C (p.Val248Ala)
c.374T>C (p.Val125Ala)
n.561T>C
n.464T>C
n.583T>C
c.470T>C (p.Val157Ala)
gnomAD v4
11g.62998939A>TCA380983772SLC22A8c.743T>A (p.Val248Asp)
c.374T>A (p.Val125Asp)
n.561T>A
n.464T>A
n.583T>A
c.470T>A (p.Val157Asp)
11g.62998939_62998940delinsACCA1978015808SLC22A8c.742_743delinsGT (p.Val248=)
c.373_374delinsGT (p.Val125=)
n.560_561delinsGT
n.463_464delinsGT
n.582_583delinsGT
c.469_470delinsGT (p.Val157=)
11g.62998940delCA6059849SLC22A8c.742del (p.Val248SerfsTer26)
c.373del (p.Val125SerfsTer26)
n.560del
n.463del
n.582del
c.469del (p.Val157SerfsTer26)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.62998940C>ACA380983780SLC22A8c.742G>T (p.Val248Phe)
c.373G>T (p.Val125Phe)
n.560G>T
n.463G>T
n.582G>T
c.469G>T (p.Val157Phe)
gnomAD v4
11g.62998940C=CA1978015815SLC22A8c.742G= (p.Val248=)
c.373G= (p.Val125=)
n.560G=
n.463G=
n.582G=
c.469G= (p.Val157=)
11g.62998940C>GCA380983783SLC22A8c.742G>C (p.Val248Leu)
c.373G>C (p.Val125Leu)
n.560G>C
n.463G>C
n.582G>C
c.469G>C (p.Val157Leu)
11g.62998940C>TCA6059850SLC22A8c.742G>A (p.Val248Ile)
c.373G>A (p.Val125Ile)
n.560G>A
n.463G>A
n.582G>A
c.469G>A (p.Val157Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62998941G>ACA223625760SLC22A8c.741C>T (p.Phe247=)
c.372C>T (p.Phe124=)
n.559C>T
n.462C>T
n.581C>T
c.468C>T (p.Phe156=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.62998941G>CCA380983788SLC22A8c.741C>G (p.Phe247Leu)
c.372C>G (p.Phe124Leu)
n.559C>G
n.462C>G
n.581C>G
c.468C>G (p.Phe156Leu)
11g.62998941G=CA1978015821SLC22A8c.741C= (p.Phe247=)
c.372C= (p.Phe124=)
n.559C=
n.462C=
n.581C=
c.468C= (p.Phe156=)
11g.62998941G>TCA380983791SLC22A8c.741C>A (p.Phe247Leu)
c.372C>A (p.Phe124Leu)
n.559C>A
n.462C>A
n.581C>A
c.468C>A (p.Phe156Leu)
11g.62998942A=CA1978015825SLC22A8c.740T= (p.Phe247=)
c.371T= (p.Phe124=)
n.558T=
n.461T=
n.580T=
c.467T= (p.Phe156=)
11g.62998942A>CCA380983794SLC22A8c.740T>G (p.Phe247Cys)
c.371T>G (p.Phe124Cys)
n.558T>G
n.461T>G
n.580T>G
c.467T>G (p.Phe156Cys)
11g.62998942A>GCA380983795SLC22A8c.740T>C (p.Phe247Ser)
c.371T>C (p.Phe124Ser)
n.558T>C
n.461T>C
n.580T>C
c.467T>C (p.Phe156Ser)
dbSNP gnomAD v4
11g.62998942A>TCA380983797SLC22A8c.740T>A (p.Phe247Tyr)
c.371T>A (p.Phe124Tyr)
n.558T>A
n.461T>A
n.580T>A
c.467T>A (p.Phe156Tyr)
11g.62998943A>CCA380983800SLC22A8c.739T>G (p.Phe247Val)
c.370T>G (p.Phe124Val)
n.557T>G
n.460T>G
n.579T>G
c.466T>G (p.Phe156Val)
11g.62998943A>GCA380983803SLC22A8c.739T>C (p.Phe247Leu)
c.370T>C (p.Phe124Leu)
n.557T>C
n.460T>C
n.579T>C
c.466T>C (p.Phe156Leu)
gnomAD v4
11g.62998943A>TCA380983805SLC22A8c.739T>A (p.Phe247Ile)
c.370T>A (p.Phe124Ile)
n.557T>A
n.460T>A
n.579T>A
c.466T>A (p.Phe156Ile)
11g.62998944G>ACA474857007SLC22A8c.738C>T (p.Phe246=)
c.369C>T (p.Phe123=)
n.556C>T
n.459C>T
n.578C>T
c.465C>T (p.Phe155=)
11g.62998944G>CCA380983809SLC22A8c.738C>G (p.Phe246Leu)
c.369C>G (p.Phe123Leu)
n.556C>G
n.459C>G
n.578C>G
c.465C>G (p.Phe155Leu)
11g.62998944G>TCA380983807SLC22A8c.738C>A (p.Phe246Leu)
c.369C>A (p.Phe123Leu)
n.556C>A
n.459C>A
n.578C>A
c.465C>A (p.Phe155Leu)
11g.62998945A>CCA380983814SLC22A8c.737T>G (p.Phe246Cys)
c.368T>G (p.Phe123Cys)
n.555T>G
n.458T>G
n.577T>G
c.464T>G (p.Phe155Cys)
11g.62998945A>GCA380983816SLC22A8c.737T>C (p.Phe246Ser)
c.368T>C (p.Phe123Ser)
n.555T>C
n.458T>C
n.577T>C
c.464T>C (p.Phe155Ser)
dbSNP gnomAD v3
11g.62998945A>TCA380983818SLC22A8c.737T>A (p.Phe246Tyr)
c.368T>A (p.Phe123Tyr)
n.555T>A
n.458T>A
n.577T>A
c.464T>A (p.Phe155Tyr)
11g.62998946A>CCA380983822SLC22A8c.736T>G (p.Phe246Val)
c.367T>G (p.Phe123Val)
n.554T>G
n.457T>G
n.576T>G
c.463T>G (p.Phe155Val)
11g.62998946A>GCA380983824SLC22A8c.736T>C (p.Phe246Leu)
c.367T>C (p.Phe123Leu)
n.554T>C
n.457T>C
n.576T>C
c.463T>C (p.Phe155Leu)
11g.62998946A>TCA380983826SLC22A8c.736T>A (p.Phe246Ile)
c.367T>A (p.Phe123Ile)
n.554T>A
n.457T>A
n.576T>A
c.463T>A (p.Phe155Ile)
11g.62998947G>ACA474857012SLC22A8c.735C>T (p.Pro245=)
c.366C>T (p.Pro122=)
n.553C>T
n.456C>T
n.575C>T
c.462C>T (p.Pro154=)
dbSNP
11g.62998947G>CCA474857013SLC22A8c.735C>G (p.Pro245=)
c.366C>G (p.Pro122=)
n.553C>G
n.456C>G
n.575C>G
c.462C>G (p.Pro154=)
11g.62998947G=CA1978015829SLC22A8c.735C= (p.Pro245=)
c.366C= (p.Pro122=)
n.553C=
n.456C=
n.575C=
c.462C= (p.Pro154=)
11g.62998947G>TCA474857016SLC22A8c.735C>A (p.Pro245=)
c.366C>A (p.Pro122=)
n.553C>A
n.456C>A
n.575C>A
c.462C>A (p.Pro154=)
11g.62998948G>ACA6059851SLC22A8c.734C>T (p.Pro245Leu)
c.365C>T (p.Pro122Leu)
n.552C>T
n.455C>T
n.574C>T
c.461C>T (p.Pro154Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62998948G>CCA380983829SLC22A8c.734C>G (p.Pro245Arg)
c.365C>G (p.Pro122Arg)
n.552C>G
n.455C>G
n.574C>G
c.461C>G (p.Pro154Arg)
11g.62998948G=CA1978015833SLC22A8c.734C= (p.Pro245=)
c.365C= (p.Pro122=)
n.552C=
n.455C=
n.574C=
c.461C= (p.Pro154=)
11g.62998948G>TCA380983830SLC22A8c.734C>A (p.Pro245His)
c.365C>A (p.Pro122His)
n.552C>A
n.455C>A
n.574C>A
c.461C>A (p.Pro154His)
11g.62998949G>ACA380983831SLC22A8c.733C>T (p.Pro245Ser)
c.364C>T (p.Pro122Ser)
n.551C>T
n.454C>T
n.573C>T
c.460C>T (p.Pro154Ser)
COSMIC
11g.62998949G>CCA380983833SLC22A8c.733C>G (p.Pro245Ala)
c.364C>G (p.Pro122Ala)
n.551C>G
n.454C>G
n.573C>G
c.460C>G (p.Pro154Ala)
11g.62998949G>TCA380983835SLC22A8c.733C>A (p.Pro245Thr)
c.364C>A (p.Pro122Thr)
n.551C>A
n.454C>A
n.573C>A
c.460C>A (p.Pro154Thr)
11g.62998950A>CCA380983837SLC22A8c.732T>G (p.Ile244Met)
c.363T>G (p.Ile121Met)
n.550T>G
n.453T>G
n.572T>G
c.459T>G (p.Ile153Met)
11g.62998950A>GCA474857019SLC22A8c.732T>C (p.Ile244=)
c.363T>C (p.Ile121=)
n.550T>C
n.453T>C
n.572T>C
c.459T>C (p.Ile153=)
11g.62998950A>TCA474857020SLC22A8c.732T>A (p.Ile244=)
c.363T>A (p.Ile121=)
n.550T>A
n.453T>A
n.572T>A
c.459T>A (p.Ile153=)
11g.62998951A=CA1978015837SLC22A8c.731T= (p.Ile244=)
c.362T= (p.Ile121=)
n.549T=
n.452T=
n.571T=
c.458T= (p.Ile153=)
11g.62998951A>CCA380983842SLC22A8c.731T>G (p.Ile244Ser)
c.362T>G (p.Ile121Ser)
n.549T>G
n.452T>G
n.571T>G
c.458T>G (p.Ile153Ser)
11g.62998951A>GCA380983838SLC22A8c.731T>C (p.Ile244Thr)
c.362T>C (p.Ile121Thr)
n.549T>C
n.452T>C
n.571T>C
c.458T>C (p.Ile153Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62998951A>TCA380983840SLC22A8c.731T>A (p.Ile244Asn)
c.362T>A (p.Ile121Asn)
n.549T>A
n.452T>A
n.571T>A
c.458T>A (p.Ile153Asn)
11g.62998952T>ACA380983844SLC22A8c.730A>T (p.Ile244Phe)
c.361A>T (p.Ile121Phe)
n.548A>T
n.451A>T
n.570A>T
c.457A>T (p.Ile153Phe)
11g.62998952T>CCA380983846SLC22A8c.730A>G (p.Ile244Val)
c.361A>G (p.Ile121Val)
n.548A>G
n.451A>G
n.570A>G
c.457A>G (p.Ile153Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62998952T>GCA380983848SLC22A8c.730A>C (p.Ile244Leu)
c.361A>C (p.Ile121Leu)
n.548A>C
n.451A>C
n.570A>C
c.457A>C (p.Ile153Leu)
11g.62998952T=CA1978015842SLC22A8c.730A= (p.Ile244=)
c.361A= (p.Ile121=)
n.548A=
n.451A=
n.570A=
c.457A= (p.Ile153=)
11g.62998953G>ACA474857025SLC22A8c.729C>T (p.Ser243=)
c.360C>T (p.Ser120=)
n.547C>T
n.450C>T
n.569C>T
c.456C>T (p.Ser152=)
11g.62998953G>CCA474857026SLC22A8c.729C>G (p.Ser243=)
c.360C>G (p.Ser120=)
n.547C>G
n.450C>G
n.569C>G
c.456C>G (p.Ser152=)
11g.62998953G>TCA474857027SLC22A8c.729C>A (p.Ser243=)
c.360C>A (p.Ser120=)
n.547C>A
n.450C>A
n.569C>A
c.456C>A (p.Ser152=)
11g.62998954G>ACA380983850SLC22A8c.728C>T (p.Ser243Phe)
c.359C>T (p.Ser120Phe)
n.546C>T
n.449C>T
n.568C>T
c.455C>T (p.Ser152Phe)
dbSNP gnomAD v2 gnomAD v4
11g.62998954G>CCA380983852SLC22A8c.728C>G (p.Ser243Cys)
c.359C>G (p.Ser120Cys)
n.546C>G
n.449C>G
n.568C>G
c.455C>G (p.Ser152Cys)
11g.62998954G=CA1978015845SLC22A8c.728C= (p.Ser243=)
c.359C= (p.Ser120=)
n.546C=
n.449C=
n.568C=
c.455C= (p.Ser152=)
11g.62998954G>TCA6059852SLC22A8c.728C>A (p.Ser243Tyr)
c.359C>A (p.Ser120Tyr)
n.546C>A
n.449C>A
n.568C>A
c.455C>A (p.Ser152Tyr)
dbSNP ExAC
11g.62998955A>CCA380983855SLC22A8c.727T>G (p.Ser243Ala)
c.358T>G (p.Ser120Ala)
n.545T>G
n.448T>G
n.567T>G
c.454T>G (p.Ser152Ala)
11g.62998955A>GCA380983856SLC22A8c.727T>C (p.Ser243Pro)
c.358T>C (p.Ser120Pro)
n.545T>C
n.448T>C
n.567T>C
c.454T>C (p.Ser152Pro)
11g.62998955A>TCA380983858SLC22A8c.727T>A (p.Ser243Thr)
c.358T>A (p.Ser120Thr)
n.545T>A
n.448T>A
n.567T>A
c.454T>A (p.Ser152Thr)
11g.62998956C>ACA474857036SLC22A8c.726G>T (p.Val242=)
c.357G>T (p.Val119=)
n.544G>T
n.447G>T
n.566G>T
c.453G>T (p.Val151=)
11g.62998956C>GCA474857035SLC22A8c.726G>C (p.Val242=)
c.357G>C (p.Val119=)
n.544G>C
n.447G>C
n.566G>C
c.453G>C (p.Val151=)
11g.62998956C>TCA474857034SLC22A8c.726G>A (p.Val242=)
c.357G>A (p.Val119=)
n.544G>A
n.447G>A
n.566G>A
c.453G>A (p.Val151=)
gnomAD v4
11g.62998957A>CCA380983861SLC22A8c.725T>G (p.Val242Gly)
c.356T>G (p.Val119Gly)
n.543T>G
n.446T>G
n.565T>G
c.452T>G (p.Val151Gly)
11g.62998957A>GCA380983862SLC22A8c.725T>C (p.Val242Ala)
c.356T>C (p.Val119Ala)
n.543T>C
n.446T>C
n.565T>C
c.452T>C (p.Val151Ala)
11g.62998957A>TCA380983863SLC22A8c.725T>A (p.Val242Glu)
c.356T>A (p.Val119Glu)
n.543T>A
n.446T>A
n.565T>A
c.452T>A (p.Val151Glu)
COSMIC
11g.62998958C>ACA380983869SLC22A8c.724G>T (p.Val242Leu)
c.355G>T (p.Val119Leu)
n.542G>T
n.445G>T
n.564G>T
c.451G>T (p.Val151Leu)
11g.62998958C>GCA380983868SLC22A8c.724G>C (p.Val242Leu)
c.355G>C (p.Val119Leu)
n.542G>C
n.445G>C
n.564G>C
c.451G>C (p.Val151Leu)
11g.62998958C>TCA380983866SLC22A8c.724G>A (p.Val242Met)
c.355G>A (p.Val119Met)
n.542G>A
n.445G>A
n.564G>A
c.451G>A (p.Val151Met)
11g.62998959A=CA1978015851SLC22A8c.723T= (p.Thr241=)
c.354T= (p.Thr118=)
n.541T=
n.444T=
n.563T=
c.450T= (p.Thr150=)
11g.62998959A>CCA474857044SLC22A8c.723T>G (p.Thr241=)
c.354T>G (p.Thr118=)
n.541T>G
n.444T>G
n.563T>G
c.450T>G (p.Thr150=)
11g.62998959A>GCA474857048SLC22A8c.723T>C (p.Thr241=)
c.354T>C (p.Thr118=)
n.541T>C
n.444T>C
n.563T>C
c.450T>C (p.Thr150=)
dbSNP
11g.62998959A>TCA6059853SLC22A8c.723T>A (p.Thr241=)
c.354T>A (p.Thr118=)
n.541T>A
n.444T>A
n.563T>A
c.450T>A (p.Thr150=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62998960G>ACA380983874SLC22A8c.722C>T (p.Thr241Ile)
c.353C>T (p.Thr118Ile)
n.540C>T
n.443C>T
n.562C>T
c.449C>T (p.Thr150Ile)
11g.62998960G>CCA380983872SLC22A8c.722C>G (p.Thr241Ser)
c.353C>G (p.Thr118Ser)
n.540C>G
n.443C>G
n.562C>G
c.449C>G (p.Thr150Ser)
dbSNP gnomAD v2 gnomAD v4
11g.62998960G=CA1978015857SLC22A8c.722C= (p.Thr241=)
c.353C= (p.Thr118=)
n.540C=
n.443C=
n.562C=
c.449C= (p.Thr150=)
11g.62998960G>TCA380983876SLC22A8c.722C>A (p.Thr241Asn)
c.353C>A (p.Thr118Asn)
n.540C>A
n.443C>A
n.562C>A
c.449C>A (p.Thr150Asn)
11g.62998961T>ACA380983878SLC22A8c.721A>T (p.Thr241Ser)
c.352A>T (p.Thr118Ser)
n.539A>T
n.442A>T
n.561A>T
c.448A>T (p.Thr150Ser)
11g.62998961T>CCA380983883SLC22A8c.721A>G (p.Thr241Ala)
c.352A>G (p.Thr118Ala)
n.539A>G
n.442A>G
n.561A>G
c.448A>G (p.Thr150Ala)
11g.62998961T>GCA380983881SLC22A8c.721A>C (p.Thr241Pro)
c.352A>C (p.Thr118Pro)
n.539A>C
n.442A>C
n.561A>C
c.448A>C (p.Thr150Pro)
11g.62998962T>ACA380983886SLC22A8c.720A>T (p.Leu240Phe)
c.351A>T (p.Leu117Phe)
n.538A>T
n.441A>T
n.560A>T
c.447A>T (p.Leu149Phe)
11g.62998962T>CCA474857049SLC22A8c.720A>G (p.Leu240=)
c.351A>G (p.Leu117=)
n.538A>G
n.441A>G
n.560A>G
c.447A>G (p.Leu149=)
11g.62998962T>GCA380983888SLC22A8c.720A>C (p.Leu240Phe)
c.351A>C (p.Leu117Phe)
n.538A>C
n.441A>C
n.560A>C
c.447A>C (p.Leu149Phe)
11g.62998963A>CCA380983891SLC22A8c.719T>G (p.Leu240Ter)
c.350T>G (p.Leu117Ter)
n.537T>G
n.440T>G
n.559T>G
c.446T>G (p.Leu149Ter)
11g.62998963A>GCA380983893SLC22A8c.719T>C (p.Leu240Ser)
c.350T>C (p.Leu117Ser)
n.537T>C
n.440T>C
n.559T>C
c.446T>C (p.Leu149Ser)
11g.62998963A>TCA380983897SLC22A8c.719T>A (p.Leu240Ter)
c.350T>A (p.Leu117Ter)
n.537T>A
n.440T>A
n.559T>A
c.446T>A (p.Leu149Ter)
COSMIC
11g.62998964A>CCA380983898SLC22A8c.718T>G (p.Leu240Val)
c.349T>G (p.Leu117Val)
n.536T>G
n.439T>G
n.558T>G
c.445T>G (p.Leu149Val)
11g.62998964A>GCA474857051SLC22A8c.718T>C (p.Leu240=)
c.349T>C (p.Leu117=)
n.536T>C
n.439T>C
n.558T>C
c.445T>C (p.Leu149=)
11g.62998964A>TCA380983899SLC22A8c.718T>A (p.Leu240Ile)
c.349T>A (p.Leu117Ile)
n.536T>A
n.439T>A
n.558T>A
c.445T>A (p.Leu149Ile)
11g.62998965C>ACA380983901SLC22A8c.717G>T (p.Gln239His)
c.348G>T (p.Gln116His)
n.535G>T
n.438G>T
n.557G>T
c.444G>T (p.Gln148His)
11g.62998965C>GCA380983902SLC22A8c.717G>C (p.Gln239His)
c.348G>C (p.Gln116His)
n.535G>C
n.438G>C
n.557G>C
c.444G>C (p.Gln148His)
11g.62998965C>TCA474857053SLC22A8c.717G>A (p.Gln239=)
c.348G>A (p.Gln116=)
n.535G>A
n.438G>A
n.557G>A
c.444G>A (p.Gln148=)
11g.62998966T>ACA380983903SLC22A8c.716A>T (p.Gln239Leu)
c.347A>T (p.Gln116Leu)
n.534A>T
n.437A>T
n.556A>T
c.443A>T (p.Gln148Leu)
11g.62998966T>CCA380983906SLC22A8c.716A>G (p.Gln239Arg)
c.347A>G (p.Gln116Arg)
n.534A>G
n.437A>G
n.556A>G
c.443A>G (p.Gln148Arg)
COSMIC
11g.62998966T>GCA380983904SLC22A8c.716A>C (p.Gln239Pro)
c.347A>C (p.Gln116Pro)
n.534A>C
n.437A>C
n.556A>C
c.443A>C (p.Gln148Pro)
11g.62998967G>ACA6059854SLC22A8c.715C>T (p.Gln239Ter)
c.346C>T (p.Gln116Ter)
n.533C>T
n.436C>T
n.555C>T
c.442C>T (p.Gln148Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62998967G>CCA380983910SLC22A8c.715C>G (p.Gln239Glu)
c.346C>G (p.Gln116Glu)
n.533C>G
n.436C>G
n.555C>G
c.442C>G (p.Gln148Glu)
11g.62998967G=CA1978015864SLC22A8c.715C= (p.Gln239=)
c.346C= (p.Gln116=)
n.533C=
n.436C=
n.555C=
c.442C= (p.Gln148=)
11g.62998967G>TCA380983912SLC22A8c.715C>A (p.Gln239Lys)
c.346C>A (p.Gln116Lys)
n.533C>A
n.436C>A
n.555C>A
c.442C>A (p.Gln148Lys)
11g.62998968C>ACA6059855SLC22A8c.714G>T (p.Leu238=)
c.345G>T (p.Leu115=)
n.532G>T
n.435G>T
n.554G>T
c.441G>T (p.Leu147=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62998968C=CA1978015865SLC22A8c.714G= (p.Leu238=)
c.345G= (p.Leu115=)
n.532G=
n.435G=
n.554G=
c.441G= (p.Leu147=)
11g.62998968C>GCA474857058SLC22A8c.714G>C (p.Leu238=)
c.345G>C (p.Leu115=)
n.532G>C
n.435G>C
n.554G>C
c.441G>C (p.Leu147=)
11g.62998968C>TCA223625778SLC22A8c.714G>A (p.Leu238=)
c.345G>A (p.Leu115=)
n.532G>A
n.435G>A
n.554G>A
c.441G>A (p.Leu147=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62998969A>CCA380983924SLC22A8c.713T>G (p.Leu238Arg)
c.344T>G (p.Leu115Arg)
n.531T>G
n.434T>G
n.553T>G
c.440T>G (p.Leu147Arg)
gnomAD v4
11g.62998969A>GCA380983919SLC22A8c.713T>C (p.Leu238Pro)
c.344T>C (p.Leu115Pro)
n.531T>C
n.434T>C
n.553T>C
c.440T>C (p.Leu147Pro)
gnomAD v4
11g.62998969A>TCA380983921SLC22A8c.713T>A (p.Leu238Gln)
c.344T>A (p.Leu115Gln)
n.531T>A
n.434T>A
n.553T>A
c.440T>A (p.Leu147Gln)
11g.62998970G>ACA474857062SLC22A8c.712C>T (p.Leu238=)
c.343C>T (p.Leu115=)
n.530C>T
n.433C>T
n.552C>T
c.439C>T (p.Leu147=)
11g.62998970G>CCA380983927SLC22A8c.712C>G (p.Leu238Val)
c.343C>G (p.Leu115Val)
n.530C>G
n.433C>G
n.552C>G
c.439C>G (p.Leu147Val)
11g.62998970G>TCA380983929SLC22A8c.712C>A (p.Leu238Met)
c.343C>A (p.Leu115Met)
n.530C>A
n.433C>A
n.552C>A
c.439C>A (p.Leu147Met)
11g.62998971C>ACA380983932SLC22A8c.711G>T (p.Trp237Cys)
c.342G>T (p.Trp114Cys)
n.529G>T
n.432G>T
n.551G>T
c.438G>T (p.Trp146Cys)
11g.62998971C>GCA380983933SLC22A8c.711G>C (p.Trp237Cys)
c.342G>C (p.Trp114Cys)
n.529G>C
n.432G>C
n.551G>C
c.438G>C (p.Trp146Cys)
11g.62998971C>TCA380983934SLC22A8c.711G>A (p.Trp237Ter)
c.342G>A (p.Trp114Ter)
n.529G>A
n.432G>A
n.551G>A
c.438G>A (p.Trp146Ter)
dbSNP gnomAD v4
11g.62998972C>ACA380983935SLC22A8c.710G>T (p.Trp237Leu)
c.341G>T (p.Trp114Leu)
n.528G>T
n.431G>T
n.550G>T
c.437G>T (p.Trp146Leu)
11g.62998972C>GCA380983936SLC22A8c.710G>C (p.Trp237Ser)
c.341G>C (p.Trp114Ser)
n.528G>C
n.431G>C
n.550G>C
c.437G>C (p.Trp146Ser)
11g.62998972C>TCA380983938SLC22A8c.710G>A (p.Trp237Ter)
c.341G>A (p.Trp114Ter)
n.528G>A
n.431G>A
n.550G>A
c.437G>A (p.Trp146Ter)
11g.62998973A>CCA380983940SLC22A8c.709T>G (p.Trp237Gly)
c.340T>G (p.Trp114Gly)
n.527T>G
n.430T>G
n.549T>G
c.436T>G (p.Trp146Gly)
11g.62998973A>GCA380983942SLC22A8c.709T>C (p.Trp237Arg)
c.340T>C (p.Trp114Arg)
n.527T>C
n.430T>C
n.549T>C
c.436T>C (p.Trp146Arg)
gnomAD v4
11g.62998973A>TCA380983943SLC22A8c.709T>A (p.Trp237Arg)
c.340T>A (p.Trp114Arg)
n.527T>A
n.430T>A
n.549T>A
c.436T>A (p.Trp146Arg)
11g.62998974A=CA1978015866SLC22A8c.708T= (p.Arg236=)
c.339T= (p.Arg113=)
n.526T=
n.429T=
n.548T=
c.435T= (p.Arg145=)
11g.62998974A>CCA474857068SLC22A8c.708T>G (p.Arg236=)
c.339T>G (p.Arg113=)
n.526T>G
n.429T>G
n.548T>G
c.435T>G (p.Arg145=)
11g.62998974A>GCA6059856SLC22A8c.708T>C (p.Arg236=)
c.339T>C (p.Arg113=)
n.526T>C
n.429T>C
n.548T>C
c.435T>C (p.Arg145=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62998974A>TCA474857069SLC22A8c.708T>A (p.Arg236=)
c.339T>A (p.Arg113=)
n.526T>A
n.429T>A
n.548T>A
c.435T>A (p.Arg145=)
11g.62998975C>ACA380983947SLC22A8c.707G>T (p.Arg236Leu)
c.338G>T (p.Arg113Leu)
n.525G>T
n.428G>T
n.547G>T
c.434G>T (p.Arg145Leu)
dbSNP
11g.62998975C=CA1978015868SLC22A8c.707G= (p.Arg236=)
c.338G= (p.Arg113=)
n.525G=
n.428G=
n.547G=
c.434G= (p.Arg145=)
11g.62998975C>GCA380983950SLC22A8c.707G>C (p.Arg236Pro)
c.338G>C (p.Arg113Pro)
n.525G>C
n.428G>C
n.547G>C
c.434G>C (p.Arg145Pro)
11g.62998975C>TCA6059857SLC22A8c.707G>A (p.Arg236His)
c.338G>A (p.Arg113His)
n.525G>A
n.428G>A
n.547G>A
c.434G>A (p.Arg145His)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.62998976G>ACA380983951SLC22A8c.706C>T (p.Arg236Cys)
c.337C>T (p.Arg113Cys)
n.524C>T
n.427C>T
n.546C>T
c.433C>T (p.Arg145Cys)
dbSNP gnomAD v4 COSMIC
11g.62998976G>CCA380983952SLC22A8c.706C>G (p.Arg236Gly)
c.337C>G (p.Arg113Gly)
n.524C>G
n.427C>G
n.546C>G
c.433C>G (p.Arg145Gly)
11g.62998976G=CA1978015870SLC22A8c.706C= (p.Arg236=)
c.337C= (p.Arg113=)
n.524C=
n.427C=
n.546C=
c.433C= (p.Arg145=)
11g.62998976G>TCA6059858SLC22A8c.706C>A (p.Arg236Ser)
c.337C>A (p.Arg113Ser)
n.524C>A
n.427C>A
n.546C>A
c.433C>A (p.Arg145Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62998977C>ACA380983955SLC22A8c.705G>T (p.Trp235Cys)
c.336G>T (p.Trp112Cys)
n.523G>T
n.426G>T
n.545G>T
c.432G>T (p.Trp144Cys)
11g.62998977C>GCA380983957SLC22A8c.705G>C (p.Trp235Cys)
c.336G>C (p.Trp112Cys)
n.523G>C
n.426G>C
n.545G>C
c.432G>C (p.Trp144Cys)
11g.62998977C>TCA380983961SLC22A8c.705G>A (p.Trp235Ter)
c.336G>A (p.Trp112Ter)
n.523G>A
n.426G>A
n.545G>A
c.432G>A (p.Trp144Ter)
11g.62998978C>ACA380983965SLC22A8c.704G>T (p.Trp235Leu)
c.335G>T (p.Trp112Leu)
n.522G>T
n.425G>T
n.544G>T
c.431G>T (p.Trp144Leu)
11g.62998978C=CA1978015878SLC22A8c.704G= (p.Trp235=)
c.335G= (p.Trp112=)
n.522G=
n.425G=
n.544G=
c.431G= (p.Trp144=)
11g.62998978C>GCA380983967SLC22A8c.704G>C (p.Trp235Ser)
c.335G>C (p.Trp112Ser)
n.522G>C
n.425G>C
n.544G>C
c.431G>C (p.Trp144Ser)
dbSNP
11g.62998978C>TCA380983969SLC22A8c.704G>A (p.Trp235Ter)
c.335G>A (p.Trp112Ter)
n.522G>A
n.425G>A
n.544G>A
c.431G>A (p.Trp144Ter)
11g.62998979A>CCA380983971SLC22A8c.703T>G (p.Trp235Gly)
c.334T>G (p.Trp112Gly)
n.521T>G
n.424T>G
n.543T>G
c.430T>G (p.Trp144Gly)
11g.62998979A>GCA380983974SLC22A8c.703T>C (p.Trp235Arg)
c.334T>C (p.Trp112Arg)
n.521T>C
n.424T>C
n.543T>C
c.430T>C (p.Trp144Arg)
11g.62998979A>TCA380983977SLC22A8c.703T>A (p.Trp235Arg)
c.334T>A (p.Trp112Arg)
n.521T>A
n.424T>A
n.543T>A
c.430T>A (p.Trp144Arg)
11g.62998980C>ACA380983982SLC22A8c.702G>T (p.Gln234His)
c.333G>T (p.Gln111His)
n.520G>T
n.423G>T
n.542G>T
c.429G>T (p.Gln143His)
11g.62998980C=CA1978015886SLC22A8c.702G= (p.Gln234=)
c.333G= (p.Gln111=)
n.520G=
n.423G=
n.542G=
c.429G= (p.Gln143=)
11g.62998980C>GCA380983980SLC22A8c.702G>C (p.Gln234His)
c.333G>C (p.Gln111His)
n.520G>C
n.423G>C
n.542G>C
c.429G>C (p.Gln143His)
11g.62998980C>TCA6059859SLC22A8c.702G>A (p.Gln234=)
c.333G>A (p.Gln111=)
n.520G>A
n.423G>A
n.542G>A
c.429G>A (p.Gln143=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.62998981T>ACA380983985SLC22A8c.701A>T (p.Gln234Leu)
c.332A>T (p.Gln111Leu)
n.519A>T
n.422A>T
n.541A>T
c.428A>T (p.Gln143Leu)
11g.62998981T>CCA6059860SLC22A8c.701A>G (p.Gln234Arg)
c.332A>G (p.Gln111Arg)
n.519A>G
n.422A>G
n.541A>G
c.428A>G (p.Gln143Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.62998981T>GCA380983988SLC22A8c.701A>C (p.Gln234Pro)
c.332A>C (p.Gln111Pro)
n.519A>C
n.422A>C
n.541A>C
c.428A>C (p.Gln143Pro)
11g.62998981T=CA1978015889SLC22A8c.701A= (p.Gln234=)
c.332A= (p.Gln111=)
n.519A=
n.422A=
n.541A=
c.428A= (p.Gln143=)
11g.62998982G>ACA380983990SLC22A8c.700C>T (p.Gln234Ter)
c.331C>T (p.Gln111Ter)
n.518C>T
n.421C>T
n.540C>T
c.427C>T (p.Gln143Ter)
gnomAD v4
11g.62998982G>CCA380983992SLC22A8c.700C>G (p.Gln234Glu)
c.331C>G (p.Gln111Glu)
n.518C>G
n.421C>G
n.540C>G
c.427C>G (p.Gln143Glu)
11g.62998982G>TCA380983995SLC22A8c.700C>A (p.Gln234Lys)
c.331C>A (p.Gln111Lys)
n.518C>A
n.421C>A
n.540C>A
c.427C>A (p.Gln143Lys)
dbSNP
11g.62998983G>ACA474857075SLC22A8c.699C>T (p.Pro233=)
c.330C>T (p.Pro110=)
n.517C>T
n.420C>T
n.539C>T
c.426C>T (p.Pro142=)
11g.62998983G>CCA474857079SLC22A8c.699C>G (p.Pro233=)
c.330C>G (p.Pro110=)
n.517C>G
n.420C>G
n.539C>G
c.426C>G (p.Pro142=)
11g.62998983G=CA1978015891SLC22A8c.699C= (p.Pro233=)
c.330C= (p.Pro110=)
n.517C=
n.420C=
n.539C=
c.426C= (p.Pro142=)
11g.62998983G>TCA474857077SLC22A8c.699C>A (p.Pro233=)
c.330C>A (p.Pro110=)
n.517C>A
n.420C>A
n.539C>A
c.426C>A (p.Pro142=)
dbSNP
11g.62998984G>ACA380983997SLC22A8c.698C>T (p.Pro233Leu)
c.329C>T (p.Pro110Leu)
n.516C>T
n.419C>T
n.538C>T
c.425C>T (p.Pro142Leu)
11g.62998984G>CCA380983999SLC22A8c.698C>G (p.Pro233Arg)
c.329C>G (p.Pro110Arg)
n.516C>G
n.419C>G
n.538C>G
c.425C>G (p.Pro142Arg)
11g.62998984G>TCA380984000SLC22A8c.698C>A (p.Pro233His)
c.329C>A (p.Pro110His)
n.516C>A
n.419C>A
n.538C>A
c.425C>A (p.Pro142His)
gnomAD v4
11g.62998985G>ACA380984002SLC22A8c.697C>T (p.Pro233Ser)
c.328C>T (p.Pro110Ser)
n.515C>T
n.418C>T
n.537C>T
c.424C>T (p.Pro142Ser)
gnomAD v4 COSMIC
11g.62998985G>CCA380984006SLC22A8c.697C>G (p.Pro233Ala)
c.328C>G (p.Pro110Ala)
n.515C>G
n.418C>G
n.537C>G
c.424C>G (p.Pro142Ala)
11g.62998985G>TCA380984008SLC22A8c.697C>A (p.Pro233Thr)
c.328C>A (p.Pro110Thr)
n.515C>A
n.418C>A
n.537C>A
c.424C>A (p.Pro142Thr)
11g.62998986G>ACA474857082SLC22A8c.696C>T (p.Ile232=)
c.327C>T (p.Ile109=)
n.514C>T
n.417C>T
n.536C>T
c.423C>T (p.Ile141=)
11g.62998986G>CCA380984010SLC22A8c.696C>G (p.Ile232Met)
c.327C>G (p.Ile109Met)
n.514C>G
n.417C>G
n.536C>G
c.423C>G (p.Ile141Met)
11g.62998986G>TCA474857085SLC22A8c.696C>A (p.Ile232=)
c.327C>A (p.Ile109=)
n.514C>A
n.417C>A
n.536C>A
c.423C>A (p.Ile141=)
11g.62998987A>CCA380984016SLC22A8c.695T>G (p.Ile232Ser)
c.326T>G (p.Ile109Ser)
n.513T>G
n.416T>G
n.535T>G
c.422T>G (p.Ile141Ser)
11g.62998987A>GCA380984013SLC22A8c.695T>C (p.Ile232Thr)
c.326T>C (p.Ile109Thr)
n.513T>C
n.416T>C
n.535T>C
c.422T>C (p.Ile141Thr)
11g.62998987A>TCA380984019SLC22A8c.695T>A (p.Ile232Asn)
c.326T>A (p.Ile109Asn)
n.513T>A
n.416T>A
n.535T>A
c.422T>A (p.Ile141Asn)
11g.62998988T>ACA380984022SLC22A8c.694A>T (p.Ile232Phe)
c.325A>T (p.Ile109Phe)
n.512A>T
n.415A>T
n.534A>T
c.421A>T (p.Ile141Phe)
11g.62998988T>CCA380984024SLC22A8c.694A>G (p.Ile232Val)
c.325A>G (p.Ile109Val)
n.512A>G
n.415A>G
n.534A>G
c.421A>G (p.Ile141Val)
11g.62998988T>GCA380984027SLC22A8c.694A>C (p.Ile232Leu)
c.325A>C (p.Ile109Leu)
n.512A>C
n.415A>C
n.534A>C
c.421A>C (p.Ile141Leu)
11g.62998989G>ACA474857091SLC22A8c.693C>T (p.Ala231=)
c.324C>T (p.Ala108=)
n.511C>T
n.414C>T
n.533C>T
c.420C>T (p.Ala140=)
11g.62998989G>CCA474857094SLC22A8c.693C>G (p.Ala231=)
c.324C>G (p.Ala108=)
n.511C>G
n.414C>G
n.533C>G
c.420C>G (p.Ala140=)
11g.62998989G>TCA474857095SLC22A8c.693C>A (p.Ala231=)
c.324C>A (p.Ala108=)
n.511C>A
n.414C>A
n.533C>A
c.420C>A (p.Ala140=)
11g.62998990G>ACA380984030SLC22A8c.692C>T (p.Ala231Val)
c.323C>T (p.Ala108Val)
n.510C>T
n.413C>T
n.532C>T
c.419C>T (p.Ala140Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62998990G>CCA380984032SLC22A8c.692C>G (p.Ala231Gly)
c.323C>G (p.Ala108Gly)
n.510C>G
n.413C>G
n.532C>G
c.419C>G (p.Ala140Gly)
11g.62998990G=CA1978015895SLC22A8c.692C= (p.Ala231=)
c.323C= (p.Ala108=)
n.510C=
n.413C=
n.532C=
c.419C= (p.Ala140=)
11g.62998990G>TCA380984034SLC22A8c.692C>A (p.Ala231Asp)
c.323C>A (p.Ala108Asp)
n.510C>A
n.413C>A
n.532C>A
c.419C>A (p.Ala140Asp)
11g.62998991C>ACA380984037SLC22A8c.691G>T (p.Ala231Ser)
c.322G>T (p.Ala108Ser)
n.509G>T
n.412G>T
n.531G>T
c.418G>T (p.Ala140Ser)
dbSNP gnomAD v4
11g.62998991C=CA1978015901SLC22A8c.691G= (p.Ala231=)
c.322G= (p.Ala108=)
n.509G=
n.412G=
n.531G=
c.418G= (p.Ala140=)
11g.62998991C>GCA380984039SLC22A8c.691G>C (p.Ala231Pro)
c.322G>C (p.Ala108Pro)
n.509G>C
n.412G>C
n.531G>C
c.418G>C (p.Ala140Pro)
11g.62998991C>TCA6059861SLC22A8c.691G>A (p.Ala231Thr)
c.322G>A (p.Ala108Thr)
n.509G>A
n.412G>A
n.531G>A
c.418G>A (p.Ala140Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62998992G>ACA6059862SLC22A8c.690C>T (p.Tyr230=)
c.321C>T (p.Tyr107=)
n.508C>T
n.411C>T
n.530C>T
c.417C>T (p.Tyr139=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.62998992G>CCA380984043SLC22A8c.690C>G (p.Tyr230Ter)
c.321C>G (p.Tyr107Ter)
n.508C>G
n.411C>G
n.530C>G
c.417C>G (p.Tyr139Ter)
11g.62998992G=CA1978015906SLC22A8c.690C= (p.Tyr230=)
c.321C= (p.Tyr107=)
n.508C=
n.411C=
n.530C=
c.417C= (p.Tyr139=)
11g.62998992G>TCA380984047SLC22A8c.690C>A (p.Tyr230Ter)
c.321C>A (p.Tyr107Ter)
n.508C>A
n.411C>A
n.530C>A
c.417C>A (p.Tyr139Ter)
dbSNP
11g.62998993T>ACA380984050SLC22A8c.689A>T (p.Tyr230Phe)
c.320A>T (p.Tyr107Phe)
n.507A>T
n.410A>T
n.529A>T
c.416A>T (p.Tyr139Phe)
11g.62998993T>CCA380984052SLC22A8c.689A>G (p.Tyr230Cys)
c.320A>G (p.Tyr107Cys)
n.507A>G
n.410A>G
n.529A>G
c.416A>G (p.Tyr139Cys)
11g.62998993T>GCA380984051SLC22A8c.689A>C (p.Tyr230Ser)
c.320A>C (p.Tyr107Ser)
n.507A>C
n.410A>C
n.529A>C
c.416A>C (p.Tyr139Ser)
11g.62998994A>CCA380984055SLC22A8c.688T>G (p.Tyr230Asp)
c.319T>G (p.Tyr107Asp)
n.506T>G
n.409T>G
n.528T>G
c.415T>G (p.Tyr139Asp)
11g.62998994A>GCA380984058SLC22A8c.688T>C (p.Tyr230His)
c.319T>C (p.Tyr107His)
n.506T>C
n.409T>C
n.528T>C
c.415T>C (p.Tyr139His)
11g.62998994A>TCA380984061SLC22A8c.688T>A (p.Tyr230Asn)
c.319T>A (p.Tyr107Asn)
n.506T>A
n.409T>A
n.528T>A
c.415T>A (p.Tyr139Asn)
gnomAD v4
11g.62998995G>ACA474857118SLC22A8c.687C>T (p.Ala229=)
c.318C>T (p.Ala106=)
n.505C>T
n.408C>T
n.527C>T
c.414C>T (p.Ala138=)
11g.62998995G>CCA474857120SLC22A8c.687C>G (p.Ala229=)
c.318C>G (p.Ala106=)
n.505C>G
n.408C>G
n.527C>G
c.414C>G (p.Ala138=)
11g.62998995G=CA1978015916SLC22A8c.687C= (p.Ala229=)
c.318C= (p.Ala106=)
n.505C=
n.408C=
n.527C=
c.414C= (p.Ala138=)
11g.62998995G>TCA6059863SLC22A8c.687C>A (p.Ala229=)
c.318C>A (p.Ala106=)
n.505C>A
n.408C>A
n.527C>A
c.414C>A (p.Ala138=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62998996G>ACA380984066SLC22A8c.686C>T (p.Ala229Val)
c.317C>T (p.Ala106Val)
n.504C>T
n.407C>T
n.526C>T
c.413C>T (p.Ala138Val)
11g.62998996G>CCA380984068SLC22A8c.686C>G (p.Ala229Gly)
c.317C>G (p.Ala106Gly)
n.504C>G
n.407C>G
n.526C>G
c.413C>G (p.Ala138Gly)
gnomAD v4
11g.62998996G>TCA380984070SLC22A8c.686C>A (p.Ala229Asp)
c.317C>A (p.Ala106Asp)
n.504C>A
n.407C>A
n.526C>A
c.413C>A (p.Ala138Asp)
11g.62998997C>ACA380984074SLC22A8c.685G>T (p.Ala229Ser)
c.316G>T (p.Ala106Ser)
n.503G>T
n.406G>T
n.525G>T
c.412G>T (p.Ala138Ser)
11g.62998997C>GCA380984075SLC22A8c.685G>C (p.Ala229Pro)
c.316G>C (p.Ala106Pro)
n.503G>C
n.406G>C
n.525G>C
c.412G>C (p.Ala138Pro)
11g.62998997C>TCA380984077SLC22A8c.685G>A (p.Ala229Thr)
c.316G>A (p.Ala106Thr)
n.503G>A
n.406G>A
n.525G>A
c.412G>A (p.Ala138Thr)
COSMIC
11g.62998998C>ACA474857135SLC22A8c.684G>T (p.Leu228=)
c.315G>T (p.Leu105=)
n.502G>T
n.405G>T
n.524G>T
c.411G>T (p.Leu137=)
11g.62998998C>GCA474857137SLC22A8c.684G>C (p.Leu228=)
c.315G>C (p.Leu105=)
n.502G>C
n.405G>C
n.524G>C
c.411G>C (p.Leu137=)
11g.62998998C>TCA474857132SLC22A8c.684G>A (p.Leu228=)
c.315G>A (p.Leu105=)
n.502G>A
n.405G>A
n.524G>A
c.411G>A (p.Leu137=)
11g.62998999A>CCA380984083SLC22A8c.683T>G (p.Leu228Arg)
c.314T>G (p.Leu105Arg)
n.501T>G
n.404T>G
n.523T>G
c.410T>G (p.Leu137Arg)
11g.62998999A>GCA380984085SLC22A8c.683T>C (p.Leu228Pro)
c.314T>C (p.Leu105Pro)
n.501T>C
n.404T>C
n.523T>C
c.410T>C (p.Leu137Pro)
11g.62998999A>TCA380984080SLC22A8c.683T>A (p.Leu228Gln)
c.314T>A (p.Leu105Gln)
n.501T>A
n.404T>A
n.523T>A
c.410T>A (p.Leu137Gln)
11g.62999000G>ACA474857150SLC22A8c.682C>T (p.Leu228=)
c.313C>T (p.Leu105=)
n.500C>T
n.403C>T
n.522C>T
c.409C>T (p.Leu137=)
11g.62999000G>CCA380984087SLC22A8c.682C>G (p.Leu228Val)
c.313C>G (p.Leu105Val)
n.500C>G
n.403C>G
n.522C>G
c.409C>G (p.Leu137Val)
11g.62999000G>TCA380984089SLC22A8c.682C>A (p.Leu228Met)
c.313C>A (p.Leu105Met)
n.500C>A
n.403C>A
n.522C>A
c.409C>A (p.Leu137Met)

Number of alleles fetched