Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.25812864A>CCA363157846SLC17A1c.864T>G (p.Phe288Leu)
c.*115T>G (n.*115T>G)
c.735+231T>G (n.735+231T>G)
c.777T>G (p.Phe259Leu)
c.651T>G (p.Phe217Leu)
c.1014T>G (p.Phe338Leu)
c.927T>G (p.Phe309Leu)
c.885+231T>G (n.885+231T>G)
c.930T>G (p.Phe310Leu)
6g.25812864A>GCA448980336SLC17A1c.864T>C (p.Phe288=)
c.*115T>C (n.*115T>C)
c.735+231T>C (n.735+231T>C)
c.777T>C (p.Phe259=)
c.651T>C (p.Phe217=)
c.1014T>C (p.Phe338=)
c.927T>C (p.Phe309=)
c.885+231T>C (n.885+231T>C)
c.930T>C (p.Phe310=)
6g.25812864A>TCA363157845SLC17A1c.864T>A (p.Phe288Leu)
c.*115T>A (n.*115T>A)
c.735+231T>A (n.735+231T>A)
c.777T>A (p.Phe259Leu)
c.651T>A (p.Phe217Leu)
c.1014T>A (p.Phe338Leu)
c.927T>A (p.Phe309Leu)
c.885+231T>A (n.885+231T>A)
c.930T>A (p.Phe310Leu)
6g.25812865A=CA1616765605SLC17A1c.863T= (p.Phe288=)
c.*114T= (n.*114T=)
c.735+230T= (n.735+230T=)
c.776T= (p.Phe259=)
c.650T= (p.Phe217=)
c.1013T= (p.Phe338=)
c.926T= (p.Phe309=)
c.885+230T= (n.885+230T=)
c.929T= (p.Phe310=)
6g.25812865A>CCA3662581SLC17A1c.863T>G (p.Phe288Cys)
c.*114T>G (n.*114T>G)
c.735+230T>G (n.735+230T>G)
c.776T>G (p.Phe259Cys)
c.650T>G (p.Phe217Cys)
c.1013T>G (p.Phe338Cys)
c.926T>G (p.Phe309Cys)
c.885+230T>G (n.885+230T>G)
c.929T>G (p.Phe310Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812865A>GCA363157850SLC17A1c.863T>C (p.Phe288Ser)
c.*114T>C (n.*114T>C)
c.735+230T>C (n.735+230T>C)
c.776T>C (p.Phe259Ser)
c.650T>C (p.Phe217Ser)
c.1013T>C (p.Phe338Ser)
c.926T>C (p.Phe309Ser)
c.885+230T>C (n.885+230T>C)
c.929T>C (p.Phe310Ser)
6g.25812865A>TCA363157849SLC17A1c.863T>A (p.Phe288Tyr)
c.*114T>A (n.*114T>A)
c.735+230T>A (n.735+230T>A)
c.776T>A (p.Phe259Tyr)
c.650T>A (p.Phe217Tyr)
c.1013T>A (p.Phe338Tyr)
c.926T>A (p.Phe309Tyr)
c.885+230T>A (n.885+230T>A)
c.929T>A (p.Phe310Tyr)
6g.25812866A=CA1616765606SLC17A1c.862T= (p.Phe288=)
c.*113T= (n.*113T=)
c.735+229T= (n.735+229T=)
c.775T= (p.Phe259=)
c.649T= (p.Phe217=)
c.1012T= (p.Phe338=)
c.925T= (p.Phe309=)
c.885+229T= (n.885+229T=)
c.928T= (p.Phe310=)
6g.25812866A>CCA363157853SLC17A1c.862T>G (p.Phe288Val)
c.*113T>G (n.*113T>G)
c.735+229T>G (n.735+229T>G)
c.775T>G (p.Phe259Val)
c.649T>G (p.Phe217Val)
c.1012T>G (p.Phe338Val)
c.925T>G (p.Phe309Val)
c.885+229T>G (n.885+229T>G)
c.928T>G (p.Phe310Val)
6g.25812866A>GCA363157855SLC17A1c.862T>C (p.Phe288Leu)
c.*113T>C (n.*113T>C)
c.735+229T>C (n.735+229T>C)
c.775T>C (p.Phe259Leu)
c.649T>C (p.Phe217Leu)
c.1012T>C (p.Phe338Leu)
c.925T>C (p.Phe309Leu)
c.885+229T>C (n.885+229T>C)
c.928T>C (p.Phe310Leu)
6g.25812866A>TCA3662582SLC17A1c.862T>A (p.Phe288Ile)
c.*113T>A (n.*113T>A)
c.735+229T>A (n.735+229T>A)
c.775T>A (p.Phe259Ile)
c.649T>A (p.Phe217Ile)
c.1012T>A (p.Phe338Ile)
c.925T>A (p.Phe309Ile)
c.885+229T>A (n.885+229T>A)
c.928T>A (p.Phe310Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812867C>ACA363157857SLC17A1c.861G>T (p.Met287Ile)
c.*112G>T (n.*112G>T)
c.735+228G>T (n.735+228G>T)
c.774G>T (p.Met258Ile)
c.648G>T (p.Met216Ile)
c.1011G>T (p.Met337Ile)
c.924G>T (p.Met308Ile)
c.885+228G>T (n.885+228G>T)
c.927G>T (p.Met309Ile)
6g.25812867C>GCA363157860SLC17A1c.861G>C (p.Met287Ile)
c.*112G>C (n.*112G>C)
c.735+228G>C (n.735+228G>C)
c.774G>C (p.Met258Ile)
c.648G>C (p.Met216Ile)
c.1011G>C (p.Met337Ile)
c.924G>C (p.Met308Ile)
c.885+228G>C (n.885+228G>C)
c.927G>C (p.Met309Ile)
6g.25812867C>TCA363157859SLC17A1c.861G>A (p.Met287Ile)
c.*112G>A (n.*112G>A)
c.735+228G>A (n.735+228G>A)
c.774G>A (p.Met258Ile)
c.648G>A (p.Met216Ile)
c.1011G>A (p.Met337Ile)
c.924G>A (p.Met308Ile)
c.885+228G>A (n.885+228G>A)
c.927G>A (p.Met309Ile)
6g.25812868A=CA1616765607SLC17A1c.860T= (p.Met287=)
c.*111T= (n.*111T=)
c.735+227T= (n.735+227T=)
c.773T= (p.Met258=)
c.647T= (p.Met216=)
c.1010T= (p.Met337=)
c.923T= (p.Met308=)
c.885+227T= (n.885+227T=)
c.926T= (p.Met309=)
6g.25812868A>CCA363157861SLC17A1c.860T>G (p.Met287Arg)
c.*111T>G (n.*111T>G)
c.735+227T>G (n.735+227T>G)
c.773T>G (p.Met258Arg)
c.647T>G (p.Met216Arg)
c.1010T>G (p.Met337Arg)
c.923T>G (p.Met308Arg)
c.885+227T>G (n.885+227T>G)
c.926T>G (p.Met309Arg)
6g.25812868A>GCA363157863SLC17A1c.860T>C (p.Met287Thr)
c.*111T>C (n.*111T>C)
c.735+227T>C (n.735+227T>C)
c.773T>C (p.Met258Thr)
c.647T>C (p.Met216Thr)
c.1010T>C (p.Met337Thr)
c.923T>C (p.Met308Thr)
c.885+227T>C (n.885+227T>C)
c.926T>C (p.Met309Thr)
6g.25812868A>TCA3662583SLC17A1c.860T>A (p.Met287Lys)
c.*111T>A (n.*111T>A)
c.735+227T>A (n.735+227T>A)
c.773T>A (p.Met258Lys)
c.647T>A (p.Met216Lys)
c.1010T>A (p.Met337Lys)
c.923T>A (p.Met308Lys)
c.885+227T>A (n.885+227T>A)
c.926T>A (p.Met309Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812869T>ACA363157866SLC17A1c.859A>T (p.Met287Leu)
c.*110A>T (n.*110A>T)
c.735+226A>T (n.735+226A>T)
c.772A>T (p.Met258Leu)
c.646A>T (p.Met216Leu)
c.1009A>T (p.Met337Leu)
c.922A>T (p.Met308Leu)
c.885+226A>T (n.885+226A>T)
c.925A>T (p.Met309Leu)
6g.25812869T>CCA363157867SLC17A1c.859A>G (p.Met287Val)
c.*110A>G (n.*110A>G)
c.735+226A>G (n.735+226A>G)
c.772A>G (p.Met258Val)
c.646A>G (p.Met216Val)
c.1009A>G (p.Met337Val)
c.922A>G (p.Met308Val)
c.885+226A>G (n.885+226A>G)
c.925A>G (p.Met309Val)
6g.25812869T>GCA363157869SLC17A1c.859A>C (p.Met287Leu)
c.*110A>C (n.*110A>C)
c.735+226A>C (n.735+226A>C)
c.772A>C (p.Met258Leu)
c.646A>C (p.Met216Leu)
c.1009A>C (p.Met337Leu)
c.922A>C (p.Met308Leu)
c.885+226A>C (n.885+226A>C)
c.925A>C (p.Met309Leu)
6g.25812870T>ACA448980337SLC17A1c.858A>T (p.Pro286=)
c.*109A>T (n.*109A>T)
c.735+225A>T (n.735+225A>T)
c.771A>T (p.Pro257=)
c.645A>T (p.Pro215=)
c.1008A>T (p.Pro336=)
c.921A>T (p.Pro307=)
c.885+225A>T (n.885+225A>T)
c.924A>T (p.Pro308=)
6g.25812870T>CCA3662584SLC17A1c.858A>G (p.Pro286=)
c.*109A>G (n.*109A>G)
c.735+225A>G (n.735+225A>G)
c.771A>G (p.Pro257=)
c.645A>G (p.Pro215=)
c.1008A>G (p.Pro336=)
c.921A>G (p.Pro307=)
c.885+225A>G (n.885+225A>G)
c.924A>G (p.Pro308=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812870T>GCA448980338SLC17A1c.858A>C (p.Pro286=)
c.*109A>C (n.*109A>C)
c.735+225A>C (n.735+225A>C)
c.771A>C (p.Pro257=)
c.645A>C (p.Pro215=)
c.1008A>C (p.Pro336=)
c.921A>C (p.Pro307=)
c.885+225A>C (n.885+225A>C)
c.924A>C (p.Pro308=)
6g.25812870T=CA1616765608SLC17A1c.858A= (p.Pro286=)
c.*109A= (n.*109A=)
c.735+225A= (n.735+225A=)
c.771A= (p.Pro257=)
c.645A= (p.Pro215=)
c.1008A= (p.Pro336=)
c.921A= (p.Pro307=)
c.885+225A= (n.885+225A=)
c.924A= (p.Pro308=)
6g.25812871G>ACA363157871SLC17A1c.857C>T (p.Pro286Leu)
c.*108C>T (n.*108C>T)
c.735+224C>T (n.735+224C>T)
c.770C>T (p.Pro257Leu)
c.644C>T (p.Pro215Leu)
c.1007C>T (p.Pro336Leu)
c.920C>T (p.Pro307Leu)
c.885+224C>T (n.885+224C>T)
c.923C>T (p.Pro308Leu)
6g.25812871G>CCA363157873SLC17A1c.857C>G (p.Pro286Arg)
c.*108C>G (n.*108C>G)
c.735+224C>G (n.735+224C>G)
c.770C>G (p.Pro257Arg)
c.644C>G (p.Pro215Arg)
c.1007C>G (p.Pro336Arg)
c.920C>G (p.Pro307Arg)
c.885+224C>G (n.885+224C>G)
c.923C>G (p.Pro308Arg)
6g.25812871G>TCA363157875SLC17A1c.857C>A (p.Pro286Gln)
c.*108C>A (n.*108C>A)
c.735+224C>A (n.735+224C>A)
c.770C>A (p.Pro257Gln)
c.644C>A (p.Pro215Gln)
c.1007C>A (p.Pro336Gln)
c.920C>A (p.Pro307Gln)
c.885+224C>A (n.885+224C>A)
c.923C>A (p.Pro308Gln)
6g.25812872G>ACA363157877SLC17A1c.856C>T (p.Pro286Ser)
c.*107C>T (n.*107C>T)
c.735+223C>T (n.735+223C>T)
c.769C>T (p.Pro257Ser)
c.643C>T (p.Pro215Ser)
c.1006C>T (p.Pro336Ser)
c.919C>T (p.Pro307Ser)
c.885+223C>T (n.885+223C>T)
c.922C>T (p.Pro308Ser)
dbSNP gnomAD v4
6g.25812872G>CCA363157879SLC17A1c.856C>G (p.Pro286Ala)
c.*107C>G (n.*107C>G)
c.735+223C>G (n.735+223C>G)
c.769C>G (p.Pro257Ala)
c.643C>G (p.Pro215Ala)
c.1006C>G (p.Pro336Ala)
c.919C>G (p.Pro307Ala)
c.885+223C>G (n.885+223C>G)
c.922C>G (p.Pro308Ala)
6g.25812872G=CA1616765609SLC17A1c.856C= (p.Pro286=)
c.*107C= (n.*107C=)
c.735+223C= (n.735+223C=)
c.769C= (p.Pro257=)
c.643C= (p.Pro215=)
c.1006C= (p.Pro336=)
c.919C= (p.Pro307=)
c.885+223C= (n.885+223C=)
c.922C= (p.Pro308=)
6g.25812872G>TCA363157880SLC17A1c.856C>A (p.Pro286Thr)
c.*107C>A (n.*107C>A)
c.735+223C>A (n.735+223C>A)
c.769C>A (p.Pro257Thr)
c.643C>A (p.Pro215Thr)
c.1006C>A (p.Pro336Thr)
c.919C>A (p.Pro307Thr)
c.885+223C>A (n.885+223C>A)
c.922C>A (p.Pro308Thr)
6g.25812873A=CA1616765610SLC17A1c.855T= (p.Thr285=)
c.*106T= (n.*106T=)
c.735+222T= (n.735+222T=)
c.768T= (p.Thr256=)
c.642T= (p.Thr214=)
c.1005T= (p.Thr335=)
c.918T= (p.Thr306=)
c.885+222T= (n.885+222T=)
c.921T= (p.Thr307=)
6g.25812873A>CCA136229852SLC17A1c.855T>G (p.Thr285=)
c.*106T>G (n.*106T>G)
c.735+222T>G (n.735+222T>G)
c.768T>G (p.Thr256=)
c.642T>G (p.Thr214=)
c.1005T>G (p.Thr335=)
c.918T>G (p.Thr306=)
c.885+222T>G (n.885+222T>G)
c.921T>G (p.Thr307=)
dbSNP gnomAD v2 gnomAD v4
6g.25812873A>GCA448980339SLC17A1c.855T>C (p.Thr285=)
c.*106T>C (n.*106T>C)
c.735+222T>C (n.735+222T>C)
c.768T>C (p.Thr256=)
c.642T>C (p.Thr214=)
c.1005T>C (p.Thr335=)
c.918T>C (p.Thr306=)
c.885+222T>C (n.885+222T>C)
c.921T>C (p.Thr307=)
gnomAD v4
6g.25812873A>TCA448980340SLC17A1c.855T>A (p.Thr285=)
c.*106T>A (n.*106T>A)
c.735+222T>A (n.735+222T>A)
c.768T>A (p.Thr256=)
c.642T>A (p.Thr214=)
c.1005T>A (p.Thr335=)
c.918T>A (p.Thr306=)
c.885+222T>A (n.885+222T>A)
c.921T>A (p.Thr307=)
dbSNP
6g.25812874G>ACA363157883SLC17A1c.854C>T (p.Thr285Ile)
c.*105C>T (n.*105C>T)
c.735+221C>T (n.735+221C>T)
c.767C>T (p.Thr256Ile)
c.641C>T (p.Thr214Ile)
c.1004C>T (p.Thr335Ile)
c.917C>T (p.Thr306Ile)
c.885+221C>T (n.885+221C>T)
c.920C>T (p.Thr307Ile)
6g.25812874G>CCA363157885SLC17A1c.854C>G (p.Thr285Ser)
c.*105C>G (n.*105C>G)
c.735+221C>G (n.735+221C>G)
c.767C>G (p.Thr256Ser)
c.641C>G (p.Thr214Ser)
c.1004C>G (p.Thr335Ser)
c.917C>G (p.Thr306Ser)
c.885+221C>G (n.885+221C>G)
c.920C>G (p.Thr307Ser)
6g.25812874G>TCA363157886SLC17A1c.854C>A (p.Thr285Asn)
c.*105C>A (n.*105C>A)
c.735+221C>A (n.735+221C>A)
c.767C>A (p.Thr256Asn)
c.641C>A (p.Thr214Asn)
c.1004C>A (p.Thr335Asn)
c.917C>A (p.Thr306Asn)
c.885+221C>A (n.885+221C>A)
c.920C>A (p.Thr307Asn)
6g.25812875T>ACA363157887SLC17A1c.853A>T (p.Thr285Ser)
c.*104A>T (n.*104A>T)
c.735+220A>T (n.735+220A>T)
c.766A>T (p.Thr256Ser)
c.640A>T (p.Thr214Ser)
c.1003A>T (p.Thr335Ser)
c.916A>T (p.Thr306Ser)
c.885+220A>T (n.885+220A>T)
c.919A>T (p.Thr307Ser)
6g.25812875T>CCA3662585SLC17A1c.853A>G (p.Thr285Ala)
c.*104A>G (n.*104A>G)
c.735+220A>G (n.735+220A>G)
c.766A>G (p.Thr256Ala)
c.640A>G (p.Thr214Ala)
c.1003A>G (p.Thr335Ala)
c.916A>G (p.Thr306Ala)
c.885+220A>G (n.885+220A>G)
c.919A>G (p.Thr307Ala)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.25812875T>GCA363157889SLC17A1c.853A>C (p.Thr285Pro)
c.*104A>C (n.*104A>C)
c.735+220A>C (n.735+220A>C)
c.766A>C (p.Thr256Pro)
c.640A>C (p.Thr214Pro)
c.1003A>C (p.Thr335Pro)
c.916A>C (p.Thr306Pro)
c.885+220A>C (n.885+220A>C)
c.919A>C (p.Thr307Pro)
6g.25812875T=CA1616765611SLC17A1c.853A= (p.Thr285=)
c.*104A= (n.*104A=)
c.735+220A= (n.735+220A=)
c.766A= (p.Thr256=)
c.640A= (p.Thr214=)
c.1003A= (p.Thr335=)
c.916A= (p.Thr306=)
c.885+220A= (n.885+220A=)
c.919A= (p.Thr307=)
6g.25812876G>ACA448980341SLC17A1c.852C>T (p.Tyr284=)
c.*103C>T (n.*103C>T)
c.735+219C>T (n.735+219C>T)
c.765C>T (p.Tyr255=)
c.639C>T (p.Tyr213=)
c.1002C>T (p.Tyr334=)
c.915C>T (p.Tyr305=)
c.885+219C>T (n.885+219C>T)
c.918C>T (p.Tyr306=)
6g.25812876G>CCA363157891SLC17A1c.852C>G (p.Tyr284Ter)
c.*103C>G (n.*103C>G)
c.735+219C>G (n.735+219C>G)
c.765C>G (p.Tyr255Ter)
c.639C>G (p.Tyr213Ter)
c.1002C>G (p.Tyr334Ter)
c.915C>G (p.Tyr305Ter)
c.885+219C>G (n.885+219C>G)
c.918C>G (p.Tyr306Ter)
6g.25812876G>TCA363157892SLC17A1c.852C>A (p.Tyr284Ter)
c.*103C>A (n.*103C>A)
c.735+219C>A (n.735+219C>A)
c.765C>A (p.Tyr255Ter)
c.639C>A (p.Tyr213Ter)
c.1002C>A (p.Tyr334Ter)
c.915C>A (p.Tyr305Ter)
c.885+219C>A (n.885+219C>A)
c.918C>A (p.Tyr306Ter)
6g.25812877T>ACA363157894SLC17A1c.851A>T (p.Tyr284Phe)
c.*102A>T (n.*102A>T)
c.735+218A>T (n.735+218A>T)
c.764A>T (p.Tyr255Phe)
c.638A>T (p.Tyr213Phe)
c.1001A>T (p.Tyr334Phe)
c.914A>T (p.Tyr305Phe)
c.885+218A>T (n.885+218A>T)
c.917A>T (p.Tyr306Phe)
6g.25812877T>CCA363157896SLC17A1c.851A>G (p.Tyr284Cys)
c.*102A>G (n.*102A>G)
c.735+218A>G (n.735+218A>G)
c.764A>G (p.Tyr255Cys)
c.638A>G (p.Tyr213Cys)
c.1001A>G (p.Tyr334Cys)
c.914A>G (p.Tyr305Cys)
c.885+218A>G (n.885+218A>G)
c.917A>G (p.Tyr306Cys)
gnomAD v4
6g.25812877T>GCA363157898SLC17A1c.851A>C (p.Tyr284Ser)
c.*102A>C (n.*102A>C)
c.735+218A>C (n.735+218A>C)
c.764A>C (p.Tyr255Ser)
c.638A>C (p.Tyr213Ser)
c.1001A>C (p.Tyr334Ser)
c.914A>C (p.Tyr305Ser)
c.885+218A>C (n.885+218A>C)
c.917A>C (p.Tyr306Ser)
6g.25812878A=CA1616765612SLC17A1c.850T= (p.Tyr284=)
c.*101T= (n.*101T=)
c.735+217T= (n.735+217T=)
c.763T= (p.Tyr255=)
c.637T= (p.Tyr213=)
c.1000T= (p.Tyr334=)
c.913T= (p.Tyr305=)
c.885+217T= (n.885+217T=)
c.916T= (p.Tyr306=)
6g.25812878A>CCA363157899SLC17A1c.850T>G (p.Tyr284Asp)
c.*101T>G (n.*101T>G)
c.735+217T>G (n.735+217T>G)
c.763T>G (p.Tyr255Asp)
c.637T>G (p.Tyr213Asp)
c.1000T>G (p.Tyr334Asp)
c.913T>G (p.Tyr305Asp)
c.885+217T>G (n.885+217T>G)
c.916T>G (p.Tyr306Asp)
6g.25812878A>GCA3662586SLC17A1c.850T>C (p.Tyr284His)
c.*101T>C (n.*101T>C)
c.735+217T>C (n.735+217T>C)
c.763T>C (p.Tyr255His)
c.637T>C (p.Tyr213His)
c.1000T>C (p.Tyr334His)
c.913T>C (p.Tyr305His)
c.885+217T>C (n.885+217T>C)
c.916T>C (p.Tyr306His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812878A>TCA363157901SLC17A1c.850T>A (p.Tyr284Asn)
c.*101T>A (n.*101T>A)
c.735+217T>A (n.735+217T>A)
c.763T>A (p.Tyr255Asn)
c.637T>A (p.Tyr213Asn)
c.1000T>A (p.Tyr334Asn)
c.913T>A (p.Tyr305Asn)
c.885+217T>A (n.885+217T>A)
c.916T>A (p.Tyr306Asn)
6g.25812879T>ACA448980344SLC17A1c.849A>T (p.Leu283=)
c.*100A>T (n.*100A>T)
c.735+216A>T (n.735+216A>T)
c.762A>T (p.Leu254=)
c.636A>T (p.Leu212=)
c.999A>T (p.Leu333=)
c.912A>T (p.Leu304=)
c.885+216A>T (n.885+216A>T)
c.915A>T (p.Leu305=)
gnomAD v4
6g.25812879T>CCA448980343SLC17A1c.849A>G (p.Leu283=)
c.*100A>G (n.*100A>G)
c.735+216A>G (n.735+216A>G)
c.762A>G (p.Leu254=)
c.636A>G (p.Leu212=)
c.999A>G (p.Leu333=)
c.912A>G (p.Leu304=)
c.885+216A>G (n.885+216A>G)
c.915A>G (p.Leu305=)
dbSNP gnomAD v2 gnomAD v4
6g.25812879T>GCA448980342SLC17A1c.849A>C (p.Leu283=)
c.*100A>C (n.*100A>C)
c.735+216A>C (n.735+216A>C)
c.762A>C (p.Leu254=)
c.636A>C (p.Leu212=)
c.999A>C (p.Leu333=)
c.912A>C (p.Leu304=)
c.885+216A>C (n.885+216A>C)
c.915A>C (p.Leu305=)
6g.25812879T=CA1616765613SLC17A1c.849A= (p.Leu283=)
c.*100A= (n.*100A=)
c.735+216A= (n.735+216A=)
c.762A= (p.Leu254=)
c.636A= (p.Leu212=)
c.999A= (p.Leu333=)
c.912A= (p.Leu304=)
c.885+216A= (n.885+216A=)
c.915A= (p.Leu305=)
6g.25812880A=CA1616765614SLC17A1c.848T= (p.Leu283=)
c.*99T= (n.*99T=)
c.735+215T= (n.735+215T=)
c.761T= (p.Leu254=)
c.635T= (p.Leu212=)
c.998T= (p.Leu333=)
c.911T= (p.Leu304=)
c.885+215T= (n.885+215T=)
c.914T= (p.Leu305=)
6g.25812880A>CCA3662587SLC17A1c.848T>G (p.Leu283Arg)
c.*99T>G (n.*99T>G)
c.735+215T>G (n.735+215T>G)
c.761T>G (p.Leu254Arg)
c.635T>G (p.Leu212Arg)
c.998T>G (p.Leu333Arg)
c.911T>G (p.Leu304Arg)
c.885+215T>G (n.885+215T>G)
c.914T>G (p.Leu305Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812880A>GCA363157903SLC17A1c.848T>C (p.Leu283Pro)
c.*99T>C (n.*99T>C)
c.735+215T>C (n.735+215T>C)
c.761T>C (p.Leu254Pro)
c.635T>C (p.Leu212Pro)
c.998T>C (p.Leu333Pro)
c.911T>C (p.Leu304Pro)
c.885+215T>C (n.885+215T>C)
c.914T>C (p.Leu305Pro)
6g.25812880A>TCA363157905SLC17A1c.848T>A (p.Leu283Gln)
c.*99T>A (n.*99T>A)
c.735+215T>A (n.735+215T>A)
c.761T>A (p.Leu254Gln)
c.635T>A (p.Leu212Gln)
c.998T>A (p.Leu333Gln)
c.911T>A (p.Leu304Gln)
c.885+215T>A (n.885+215T>A)
c.914T>A (p.Leu305Gln)
6g.25812881_25812942delCA645552929SLC17A1c.787_848del (p.Pro263IlefsTer13)
c.*38_*99del (n.*38_*99del)
c.735+154_735+215del (n.735+154_735+215del)
c.700_761del (p.Pro234IlefsTer13)
c.574_635del (p.Pro192IlefsTer13)
c.937_998del (p.Pro313IlefsTer13)
c.850_911del (p.Pro284IlefsTer13)
c.885+154_885+215del (n.885+154_885+215del)
c.853_914del (p.Pro285IlefsTer13)
COSMIC
6g.25812881G>ACA448980345SLC17A1c.847C>T (p.Leu283=)
c.*98C>T (n.*98C>T)
c.735+214C>T (n.735+214C>T)
c.760C>T (p.Leu254=)
c.634C>T (p.Leu212=)
c.997C>T (p.Leu333=)
c.910C>T (p.Leu304=)
c.885+214C>T (n.885+214C>T)
c.913C>T (p.Leu305=)
6g.25812881G>CCA363157907SLC17A1c.847C>G (p.Leu283Val)
c.*98C>G (n.*98C>G)
c.735+214C>G (n.735+214C>G)
c.760C>G (p.Leu254Val)
c.634C>G (p.Leu212Val)
c.997C>G (p.Leu333Val)
c.910C>G (p.Leu304Val)
c.885+214C>G (n.885+214C>G)
c.913C>G (p.Leu305Val)
6g.25812881G>TCA363157909SLC17A1c.847C>A (p.Leu283Ile)
c.*98C>A (n.*98C>A)
c.735+214C>A (n.735+214C>A)
c.760C>A (p.Leu254Ile)
c.634C>A (p.Leu212Ile)
c.997C>A (p.Leu333Ile)
c.910C>A (p.Leu304Ile)
c.885+214C>A (n.885+214C>A)
c.913C>A (p.Leu305Ile)
6g.25812882T>ACA448980346SLC17A1c.846A>T (p.Thr282=)
c.*97A>T (n.*97A>T)
c.735+213A>T (n.735+213A>T)
c.759A>T (p.Thr253=)
c.633A>T (p.Thr211=)
c.996A>T (p.Thr332=)
c.909A>T (p.Thr303=)
c.885+213A>T (n.885+213A>T)
c.912A>T (p.Thr304=)
gnomAD v4
6g.25812882T>CCA448980348SLC17A1c.846A>G (p.Thr282=)
c.*97A>G (n.*97A>G)
c.735+213A>G (n.735+213A>G)
c.759A>G (p.Thr253=)
c.633A>G (p.Thr211=)
c.996A>G (p.Thr332=)
c.909A>G (p.Thr303=)
c.885+213A>G (n.885+213A>G)
c.912A>G (p.Thr304=)
dbSNP
6g.25812882T>GCA448980347SLC17A1c.846A>C (p.Thr282=)
c.*97A>C (n.*97A>C)
c.735+213A>C (n.735+213A>C)
c.759A>C (p.Thr253=)
c.633A>C (p.Thr211=)
c.996A>C (p.Thr332=)
c.909A>C (p.Thr303=)
c.885+213A>C (n.885+213A>C)
c.912A>C (p.Thr304=)
6g.25812882T=CA1616765615SLC17A1c.846A= (p.Thr282=)
c.*97A= (n.*97A=)
c.735+213A= (n.735+213A=)
c.759A= (p.Thr253=)
c.633A= (p.Thr211=)
c.996A= (p.Thr332=)
c.909A= (p.Thr303=)
c.885+213A= (n.885+213A=)
c.912A= (p.Thr304=)
6g.25812883G>ACA363157911SLC17A1c.845C>T (p.Thr282Ile)
c.*96C>T (n.*96C>T)
c.735+212C>T (n.735+212C>T)
c.758C>T (p.Thr253Ile)
c.632C>T (p.Thr211Ile)
c.995C>T (p.Thr332Ile)
c.908C>T (p.Thr303Ile)
c.885+212C>T (n.885+212C>T)
c.911C>T (p.Thr304Ile)
6g.25812883G>CCA363157912SLC17A1c.845C>G (p.Thr282Arg)
c.*96C>G (n.*96C>G)
c.735+212C>G (n.735+212C>G)
c.758C>G (p.Thr253Arg)
c.632C>G (p.Thr211Arg)
c.995C>G (p.Thr332Arg)
c.908C>G (p.Thr303Arg)
c.885+212C>G (n.885+212C>G)
c.911C>G (p.Thr304Arg)
gnomAD v4
6g.25812883G>TCA363157914SLC17A1c.845C>A (p.Thr282Lys)
c.*96C>A (n.*96C>A)
c.735+212C>A (n.735+212C>A)
c.758C>A (p.Thr253Lys)
c.632C>A (p.Thr211Lys)
c.995C>A (p.Thr332Lys)
c.908C>A (p.Thr303Lys)
c.885+212C>A (n.885+212C>A)
c.911C>A (p.Thr304Lys)
gnomAD v4
6g.25812884T>ACA363157919SLC17A1c.844A>T (p.Thr282Ser)
c.*95A>T (n.*95A>T)
c.735+211A>T (n.735+211A>T)
c.757A>T (p.Thr253Ser)
c.631A>T (p.Thr211Ser)
c.994A>T (p.Thr332Ser)
c.907A>T (p.Thr303Ser)
c.885+211A>T (n.885+211A>T)
c.910A>T (p.Thr304Ser)
6g.25812884T>CCA363157917SLC17A1c.844A>G (p.Thr282Ala)
c.*95A>G (n.*95A>G)
c.735+211A>G (n.735+211A>G)
c.757A>G (p.Thr253Ala)
c.631A>G (p.Thr211Ala)
c.994A>G (p.Thr332Ala)
c.907A>G (p.Thr303Ala)
c.885+211A>G (n.885+211A>G)
c.910A>G (p.Thr304Ala)
dbSNP gnomAD v3 gnomAD v4
6g.25812884T>GCA363157916SLC17A1c.844A>C (p.Thr282Pro)
c.*95A>C (n.*95A>C)
c.735+211A>C (n.735+211A>C)
c.757A>C (p.Thr253Pro)
c.631A>C (p.Thr211Pro)
c.994A>C (p.Thr332Pro)
c.907A>C (p.Thr303Pro)
c.885+211A>C (n.885+211A>C)
c.910A>C (p.Thr304Pro)
6g.25812884T=CA1616765616SLC17A1c.844A= (p.Thr282=)
c.*95A= (n.*95A=)
c.735+211A= (n.735+211A=)
c.757A= (p.Thr253=)
c.631A= (p.Thr211=)
c.994A= (p.Thr332=)
c.907A= (p.Thr303=)
c.885+211A= (n.885+211A=)
c.910A= (p.Thr304=)
6g.25812885C>ACA363157921SLC17A1c.843G>T (p.Met281Ile)
c.*94G>T (n.*94G>T)
c.735+210G>T (n.735+210G>T)
c.756G>T (p.Met252Ile)
c.630G>T (p.Met210Ile)
c.993G>T (p.Met331Ile)
c.906G>T (p.Met302Ile)
c.885+210G>T (n.885+210G>T)
c.909G>T (p.Met303Ile)
gnomAD v4
6g.25812885C>GCA363157923SLC17A1c.843G>C (p.Met281Ile)
c.*94G>C (n.*94G>C)
c.735+210G>C (n.735+210G>C)
c.756G>C (p.Met252Ile)
c.630G>C (p.Met210Ile)
c.993G>C (p.Met331Ile)
c.906G>C (p.Met302Ile)
c.885+210G>C (n.885+210G>C)
c.909G>C (p.Met303Ile)
6g.25812885C>TCA363157924SLC17A1c.843G>A (p.Met281Ile)
c.*94G>A (n.*94G>A)
c.735+210G>A (n.735+210G>A)
c.756G>A (p.Met252Ile)
c.630G>A (p.Met210Ile)
c.993G>A (p.Met331Ile)
c.906G>A (p.Met302Ile)
c.885+210G>A (n.885+210G>A)
c.909G>A (p.Met303Ile)
6g.25812886A>CCA363157925SLC17A1c.842T>G (p.Met281Arg)
c.*93T>G (n.*93T>G)
c.735+209T>G (n.735+209T>G)
c.755T>G (p.Met252Arg)
c.629T>G (p.Met210Arg)
c.992T>G (p.Met331Arg)
c.905T>G (p.Met302Arg)
c.885+209T>G (n.885+209T>G)
c.908T>G (p.Met303Arg)
6g.25812886A>GCA363157927SLC17A1c.842T>C (p.Met281Thr)
c.*93T>C (n.*93T>C)
c.735+209T>C (n.735+209T>C)
c.755T>C (p.Met252Thr)
c.629T>C (p.Met210Thr)
c.992T>C (p.Met331Thr)
c.905T>C (p.Met302Thr)
c.885+209T>C (n.885+209T>C)
c.908T>C (p.Met303Thr)
6g.25812886A>TCA363157928SLC17A1c.842T>A (p.Met281Lys)
c.*93T>A (n.*93T>A)
c.735+209T>A (n.735+209T>A)
c.755T>A (p.Met252Lys)
c.629T>A (p.Met210Lys)
c.992T>A (p.Met331Lys)
c.905T>A (p.Met302Lys)
c.885+209T>A (n.885+209T>A)
c.908T>A (p.Met303Lys)
6g.25812887T>ACA363157933SLC17A1c.841A>T (p.Met281Leu)
c.*92A>T (n.*92A>T)
c.735+208A>T (n.735+208A>T)
c.754A>T (p.Met252Leu)
c.628A>T (p.Met210Leu)
c.991A>T (p.Met331Leu)
c.904A>T (p.Met302Leu)
c.885+208A>T (n.885+208A>T)
c.907A>T (p.Met303Leu)
gnomAD v4
6g.25812887T>CCA363157930SLC17A1c.841A>G (p.Met281Val)
c.*92A>G (n.*92A>G)
c.735+208A>G (n.735+208A>G)
c.754A>G (p.Met252Val)
c.628A>G (p.Met210Val)
c.991A>G (p.Met331Val)
c.904A>G (p.Met302Val)
c.885+208A>G (n.885+208A>G)
c.907A>G (p.Met303Val)
6g.25812887T>GCA363157931SLC17A1c.841A>C (p.Met281Leu)
c.*92A>C (n.*92A>C)
c.735+208A>C (n.735+208A>C)
c.754A>C (p.Met252Leu)
c.628A>C (p.Met210Leu)
c.991A>C (p.Met331Leu)
c.904A>C (p.Met302Leu)
c.885+208A>C (n.885+208A>C)
c.907A>C (p.Met303Leu)
6g.25812888G>ACA448980349SLC17A1c.840C>T (p.Ile280=)
c.*91C>T (n.*91C>T)
c.735+207C>T (n.735+207C>T)
c.753C>T (p.Ile251=)
c.627C>T (p.Ile209=)
c.990C>T (p.Ile330=)
c.903C>T (p.Ile301=)
c.885+207C>T (n.885+207C>T)
c.906C>T (p.Ile302=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.25812888G>CCA363157935SLC17A1c.840C>G (p.Ile280Met)
c.*91C>G (n.*91C>G)
c.735+207C>G (n.735+207C>G)
c.753C>G (p.Ile251Met)
c.627C>G (p.Ile209Met)
c.990C>G (p.Ile330Met)
c.903C>G (p.Ile301Met)
c.885+207C>G (n.885+207C>G)
c.906C>G (p.Ile302Met)
6g.25812888G>TCA448980350SLC17A1c.840C>A (p.Ile280=)
c.*91C>A (n.*91C>A)
c.735+207C>A (n.735+207C>A)
c.753C>A (p.Ile251=)
c.627C>A (p.Ile209=)
c.990C>A (p.Ile330=)
c.903C>A (p.Ile301=)
c.885+207C>A (n.885+207C>A)
c.906C>A (p.Ile302=)
gnomAD v4
6g.25812889A>CCA363157937SLC17A1c.839T>G (p.Ile280Ser)
c.*90T>G (n.*90T>G)
c.735+206T>G (n.735+206T>G)
c.752T>G (p.Ile251Ser)
c.626T>G (p.Ile209Ser)
c.989T>G (p.Ile330Ser)
c.902T>G (p.Ile301Ser)
c.885+206T>G (n.885+206T>G)
c.905T>G (p.Ile302Ser)
6g.25812889A>GCA363157938SLC17A1c.839T>C (p.Ile280Thr)
c.*90T>C (n.*90T>C)
c.735+206T>C (n.735+206T>C)
c.752T>C (p.Ile251Thr)
c.626T>C (p.Ile209Thr)
c.989T>C (p.Ile330Thr)
c.902T>C (p.Ile301Thr)
c.885+206T>C (n.885+206T>C)
c.905T>C (p.Ile302Thr)
6g.25812889A>TCA363157939SLC17A1c.839T>A (p.Ile280Asn)
c.*90T>A (n.*90T>A)
c.735+206T>A (n.735+206T>A)
c.752T>A (p.Ile251Asn)
c.626T>A (p.Ile209Asn)
c.989T>A (p.Ile330Asn)
c.902T>A (p.Ile301Asn)
c.885+206T>A (n.885+206T>A)
c.905T>A (p.Ile302Asn)
6g.25812890T>ACA363157940SLC17A1c.838A>T (p.Ile280Phe)
c.*89A>T (n.*89A>T)
c.735+205A>T (n.735+205A>T)
c.751A>T (p.Ile251Phe)
c.625A>T (p.Ile209Phe)
c.988A>T (p.Ile330Phe)
c.901A>T (p.Ile301Phe)
c.885+205A>T (n.885+205A>T)
c.904A>T (p.Ile302Phe)
6g.25812890T>CCA363157942SLC17A1c.838A>G (p.Ile280Val)
c.*89A>G (n.*89A>G)
c.735+205A>G (n.735+205A>G)
c.751A>G (p.Ile251Val)
c.625A>G (p.Ile209Val)
c.988A>G (p.Ile330Val)
c.901A>G (p.Ile301Val)
c.885+205A>G (n.885+205A>G)
c.904A>G (p.Ile302Val)
dbSNP gnomAD v2 gnomAD v4
6g.25812890T>GCA363157943SLC17A1c.838A>C (p.Ile280Leu)
c.*89A>C (n.*89A>C)
c.735+205A>C (n.735+205A>C)
c.751A>C (p.Ile251Leu)
c.625A>C (p.Ile209Leu)
c.988A>C (p.Ile330Leu)
c.901A>C (p.Ile301Leu)
c.885+205A>C (n.885+205A>C)
c.904A>C (p.Ile302Leu)
6g.25812890T=CA1616765617SLC17A1c.838A= (p.Ile280=)
c.*89A= (n.*89A=)
c.735+205A= (n.735+205A=)
c.751A= (p.Ile251=)
c.625A= (p.Ile209=)
c.988A= (p.Ile330=)
c.901A= (p.Ile301=)
c.885+205A= (n.885+205A=)
c.904A= (p.Ile302=)
6g.25812891G>ACA3662588SLC17A1c.837C>T (p.Asn279=)
c.*88C>T (n.*88C>T)
c.735+204C>T (n.735+204C>T)
c.750C>T (p.Asn250=)
c.624C>T (p.Asn208=)
c.987C>T (p.Asn329=)
c.900C>T (p.Asn300=)
c.885+204C>T (n.885+204C>T)
c.903C>T (p.Asn301=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812891G>CCA363157946SLC17A1c.837C>G (p.Asn279Lys)
c.*88C>G (n.*88C>G)
c.735+204C>G (n.735+204C>G)
c.750C>G (p.Asn250Lys)
c.624C>G (p.Asn208Lys)
c.987C>G (p.Asn329Lys)
c.900C>G (p.Asn300Lys)
c.885+204C>G (n.885+204C>G)
c.903C>G (p.Asn301Lys)
6g.25812891G=CA1616765618SLC17A1c.837C= (p.Asn279=)
c.*88C= (n.*88C=)
c.735+204C= (n.735+204C=)
c.750C= (p.Asn250=)
c.624C= (p.Asn208=)
c.987C= (p.Asn329=)
c.900C= (p.Asn300=)
c.885+204C= (n.885+204C=)
c.903C= (p.Asn301=)
6g.25812891G>TCA363157947SLC17A1c.837C>A (p.Asn279Lys)
c.*88C>A (n.*88C>A)
c.735+204C>A (n.735+204C>A)
c.750C>A (p.Asn250Lys)
c.624C>A (p.Asn208Lys)
c.987C>A (p.Asn329Lys)
c.900C>A (p.Asn300Lys)
c.885+204C>A (n.885+204C>A)
c.903C>A (p.Asn301Lys)
6g.25812892T>ACA363157949SLC17A1c.836A>T (p.Asn279Ile)
c.*87A>T (n.*87A>T)
c.735+203A>T (n.735+203A>T)
c.749A>T (p.Asn250Ile)
c.623A>T (p.Asn208Ile)
c.986A>T (p.Asn329Ile)
c.899A>T (p.Asn300Ile)
c.885+203A>T (n.885+203A>T)
c.902A>T (p.Asn301Ile)
6g.25812892T>CCA363157950SLC17A1c.836A>G (p.Asn279Ser)
c.*87A>G (n.*87A>G)
c.735+203A>G (n.735+203A>G)
c.749A>G (p.Asn250Ser)
c.623A>G (p.Asn208Ser)
c.986A>G (p.Asn329Ser)
c.899A>G (p.Asn300Ser)
c.885+203A>G (n.885+203A>G)
c.902A>G (p.Asn301Ser)
6g.25812892T>GCA363157952SLC17A1c.836A>C (p.Asn279Thr)
c.*87A>C (n.*87A>C)
c.735+203A>C (n.735+203A>C)
c.749A>C (p.Asn250Thr)
c.623A>C (p.Asn208Thr)
c.986A>C (p.Asn329Thr)
c.899A>C (p.Asn300Thr)
c.885+203A>C (n.885+203A>C)
c.902A>C (p.Asn301Thr)
6g.25812893T>ACA363157954SLC17A1c.835A>T (p.Asn279Tyr)
c.*86A>T (n.*86A>T)
c.735+202A>T (n.735+202A>T)
c.748A>T (p.Asn250Tyr)
c.622A>T (p.Asn208Tyr)
c.985A>T (p.Asn329Tyr)
c.898A>T (p.Asn300Tyr)
c.885+202A>T (n.885+202A>T)
c.901A>T (p.Asn301Tyr)
6g.25812893T>CCA363157957SLC17A1c.835A>G (p.Asn279Asp)
c.*86A>G (n.*86A>G)
c.735+202A>G (n.735+202A>G)
c.748A>G (p.Asn250Asp)
c.622A>G (p.Asn208Asp)
c.985A>G (p.Asn329Asp)
c.898A>G (p.Asn300Asp)
c.885+202A>G (n.885+202A>G)
c.901A>G (p.Asn301Asp)
6g.25812893T>GCA363157956SLC17A1c.835A>C (p.Asn279His)
c.*86A>C (n.*86A>C)
c.735+202A>C (n.735+202A>C)
c.748A>C (p.Asn250His)
c.622A>C (p.Asn208His)
c.985A>C (p.Asn329His)
c.898A>C (p.Asn300His)
c.885+202A>C (n.885+202A>C)
c.901A>C (p.Asn301His)
6g.25812894A>CCA363157959SLC17A1c.834T>G (p.His278Gln)
c.*85T>G (n.*85T>G)
c.735+201T>G (n.735+201T>G)
c.747T>G (p.His249Gln)
c.621T>G (p.His207Gln)
c.984T>G (p.His328Gln)
c.897T>G (p.His299Gln)
c.885+201T>G (n.885+201T>G)
c.900T>G (p.His300Gln)
6g.25812894A>GCA448980351SLC17A1c.834T>C (p.His278=)
c.*85T>C (n.*85T>C)
c.735+201T>C (n.735+201T>C)
c.747T>C (p.His249=)
c.621T>C (p.His207=)
c.984T>C (p.His328=)
c.897T>C (p.His299=)
c.885+201T>C (n.885+201T>C)
c.900T>C (p.His300=)
6g.25812894A>TCA363157961SLC17A1c.834T>A (p.His278Gln)
c.*85T>A (n.*85T>A)
c.735+201T>A (n.735+201T>A)
c.747T>A (p.His249Gln)
c.621T>A (p.His207Gln)
c.984T>A (p.His328Gln)
c.897T>A (p.His299Gln)
c.885+201T>A (n.885+201T>A)
c.900T>A (p.His300Gln)
gnomAD v4
6g.25812895T>ACA363157963SLC17A1c.833A>T (p.His278Leu)
c.*84A>T (n.*84A>T)
c.735+200A>T (n.735+200A>T)
c.746A>T (p.His249Leu)
c.620A>T (p.His207Leu)
c.983A>T (p.His328Leu)
c.896A>T (p.His299Leu)
c.885+200A>T (n.885+200A>T)
c.899A>T (p.His300Leu)
6g.25812895T>CCA3662589SLC17A1c.833A>G (p.His278Arg)
c.*84A>G (n.*84A>G)
c.735+200A>G (n.735+200A>G)
c.746A>G (p.His249Arg)
c.620A>G (p.His207Arg)
c.983A>G (p.His328Arg)
c.896A>G (p.His299Arg)
c.885+200A>G (n.885+200A>G)
c.899A>G (p.His300Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812895T>GCA363157964SLC17A1c.833A>C (p.His278Pro)
c.*84A>C (n.*84A>C)
c.735+200A>C (n.735+200A>C)
c.746A>C (p.His249Pro)
c.620A>C (p.His207Pro)
c.983A>C (p.His328Pro)
c.896A>C (p.His299Pro)
c.885+200A>C (n.885+200A>C)
c.899A>C (p.His300Pro)
6g.25812895T=CA1616765619SLC17A1c.833A= (p.His278=)
c.*84A= (n.*84A=)
c.735+200A= (n.735+200A=)
c.746A= (p.His249=)
c.620A= (p.His207=)
c.983A= (p.His328=)
c.896A= (p.His299=)
c.885+200A= (n.885+200A=)
c.899A= (p.His300=)
6g.25812896G>ACA363157965SLC17A1c.832C>T (p.His278Tyr)
c.*83C>T (n.*83C>T)
c.735+199C>T (n.735+199C>T)
c.745C>T (p.His249Tyr)
c.619C>T (p.His207Tyr)
c.982C>T (p.His328Tyr)
c.895C>T (p.His299Tyr)
c.885+199C>T (n.885+199C>T)
c.898C>T (p.His300Tyr)
6g.25812896G>CCA363157967SLC17A1c.832C>G (p.His278Asp)
c.*83C>G (n.*83C>G)
c.735+199C>G (n.735+199C>G)
c.745C>G (p.His249Asp)
c.619C>G (p.His207Asp)
c.982C>G (p.His328Asp)
c.895C>G (p.His299Asp)
c.885+199C>G (n.885+199C>G)
c.898C>G (p.His300Asp)
6g.25812896G>TCA363157968SLC17A1c.832C>A (p.His278Asn)
c.*83C>A (n.*83C>A)
c.735+199C>A (n.735+199C>A)
c.745C>A (p.His249Asn)
c.619C>A (p.His207Asn)
c.982C>A (p.His328Asn)
c.895C>A (p.His299Asn)
c.885+199C>A (n.885+199C>A)
c.898C>A (p.His300Asn)
6g.25812897T>ACA448980352SLC17A1c.831A>T (p.Ser277=)
c.*82A>T (n.*82A>T)
c.735+198A>T (n.735+198A>T)
c.744A>T (p.Ser248=)
c.618A>T (p.Ser206=)
c.981A>T (p.Ser327=)
c.894A>T (p.Ser298=)
c.885+198A>T (n.885+198A>T)
c.897A>T (p.Ser299=)
6g.25812897T>CCA448980354SLC17A1c.831A>G (p.Ser277=)
c.*82A>G (n.*82A>G)
c.735+198A>G (n.735+198A>G)
c.744A>G (p.Ser248=)
c.618A>G (p.Ser206=)
c.981A>G (p.Ser327=)
c.894A>G (p.Ser298=)
c.885+198A>G (n.885+198A>G)
c.897A>G (p.Ser299=)
6g.25812897T>GCA448980353SLC17A1c.831A>C (p.Ser277=)
c.*82A>C (n.*82A>C)
c.735+198A>C (n.735+198A>C)
c.744A>C (p.Ser248=)
c.618A>C (p.Ser206=)
c.981A>C (p.Ser327=)
c.894A>C (p.Ser298=)
c.885+198A>C (n.885+198A>C)
c.897A>C (p.Ser299=)
6g.25812898G>ACA363157970SLC17A1c.830C>T (p.Ser277Leu)
c.*81C>T (n.*81C>T)
c.735+197C>T (n.735+197C>T)
c.743C>T (p.Ser248Leu)
c.617C>T (p.Ser206Leu)
c.980C>T (p.Ser327Leu)
c.893C>T (p.Ser298Leu)
c.885+197C>T (n.885+197C>T)
c.896C>T (p.Ser299Leu)
6g.25812898G>CCA363157971SLC17A1c.830C>G (p.Ser277Ter)
c.*81C>G (n.*81C>G)
c.735+197C>G (n.735+197C>G)
c.743C>G (p.Ser248Ter)
c.617C>G (p.Ser206Ter)
c.980C>G (p.Ser327Ter)
c.893C>G (p.Ser298Ter)
c.885+197C>G (n.885+197C>G)
c.896C>G (p.Ser299Ter)
6g.25812898G>TCA363157972SLC17A1c.830C>A (p.Ser277Ter)
c.*81C>A (n.*81C>A)
c.735+197C>A (n.735+197C>A)
c.743C>A (p.Ser248Ter)
c.617C>A (p.Ser206Ter)
c.980C>A (p.Ser327Ter)
c.893C>A (p.Ser298Ter)
c.885+197C>A (n.885+197C>A)
c.896C>A (p.Ser299Ter)
gnomAD v4
6g.25812899A>CCA363157974SLC17A1c.829T>G (p.Ser277Ala)
c.*80T>G (n.*80T>G)
c.735+196T>G (n.735+196T>G)
c.742T>G (p.Ser248Ala)
c.616T>G (p.Ser206Ala)
c.979T>G (p.Ser327Ala)
c.892T>G (p.Ser298Ala)
c.885+196T>G (n.885+196T>G)
c.895T>G (p.Ser299Ala)
6g.25812899A>GCA363157976SLC17A1c.829T>C (p.Ser277Pro)
c.*80T>C (n.*80T>C)
c.735+196T>C (n.735+196T>C)
c.742T>C (p.Ser248Pro)
c.616T>C (p.Ser206Pro)
c.979T>C (p.Ser327Pro)
c.892T>C (p.Ser298Pro)
c.885+196T>C (n.885+196T>C)
c.895T>C (p.Ser299Pro)
6g.25812899A>TCA363157977SLC17A1c.829T>A (p.Ser277Thr)
c.*80T>A (n.*80T>A)
c.735+196T>A (n.735+196T>A)
c.742T>A (p.Ser248Thr)
c.616T>A (p.Ser206Thr)
c.979T>A (p.Ser327Thr)
c.892T>A (p.Ser298Thr)
c.885+196T>A (n.885+196T>A)
c.895T>A (p.Ser299Thr)
6g.25812900C>ACA363157981SLC17A1c.828G>T (p.Trp276Cys)
c.*79G>T (n.*79G>T)
c.735+195G>T (n.735+195G>T)
c.741G>T (p.Trp247Cys)
c.615G>T (p.Trp205Cys)
c.978G>T (p.Trp326Cys)
c.891G>T (p.Trp297Cys)
c.885+195G>T (n.885+195G>T)
c.894G>T (p.Trp298Cys)
gnomAD v4
6g.25812900C=CA1616765620SLC17A1c.828G= (p.Trp276=)
c.*79G= (n.*79G=)
c.735+195G= (n.735+195G=)
c.741G= (p.Trp247=)
c.615G= (p.Trp205=)
c.978G= (p.Trp326=)
c.891G= (p.Trp297=)
c.885+195G= (n.885+195G=)
c.894G= (p.Trp298=)
6g.25812900C>GCA363157978SLC17A1c.828G>C (p.Trp276Cys)
c.*79G>C (n.*79G>C)
c.735+195G>C (n.735+195G>C)
c.741G>C (p.Trp247Cys)
c.615G>C (p.Trp205Cys)
c.978G>C (p.Trp326Cys)
c.891G>C (p.Trp297Cys)
c.885+195G>C (n.885+195G>C)
c.894G>C (p.Trp298Cys)
6g.25812900C>TCA363157979SLC17A1c.828G>A (p.Trp276Ter)
c.*79G>A (n.*79G>A)
c.735+195G>A (n.735+195G>A)
c.741G>A (p.Trp247Ter)
c.615G>A (p.Trp205Ter)
c.978G>A (p.Trp326Ter)
c.891G>A (p.Trp297Ter)
c.885+195G>A (n.885+195G>A)
c.894G>A (p.Trp298Ter)
dbSNP gnomAD v2 gnomAD v4
6g.25812901C>ACA363157983SLC17A1c.827G>T (p.Trp276Leu)
c.*78G>T (n.*78G>T)
c.735+194G>T (n.735+194G>T)
c.740G>T (p.Trp247Leu)
c.614G>T (p.Trp205Leu)
c.977G>T (p.Trp326Leu)
c.890G>T (p.Trp297Leu)
c.885+194G>T (n.885+194G>T)
c.893G>T (p.Trp298Leu)
6g.25812901C=CA1616765621SLC17A1c.827G= (p.Trp276=)
c.*78G= (n.*78G=)
c.735+194G= (n.735+194G=)
c.740G= (p.Trp247=)
c.614G= (p.Trp205=)
c.977G= (p.Trp326=)
c.890G= (p.Trp297=)
c.885+194G= (n.885+194G=)
c.893G= (p.Trp298=)
6g.25812901C>GCA363157984SLC17A1c.827G>C (p.Trp276Ser)
c.*78G>C (n.*78G>C)
c.735+194G>C (n.735+194G>C)
c.740G>C (p.Trp247Ser)
c.614G>C (p.Trp205Ser)
c.977G>C (p.Trp326Ser)
c.890G>C (p.Trp297Ser)
c.885+194G>C (n.885+194G>C)
c.893G>C (p.Trp298Ser)
6g.25812901C>TCA3662590SLC17A1c.827G>A (p.Trp276Ter)
c.*78G>A (n.*78G>A)
c.735+194G>A (n.735+194G>A)
c.740G>A (p.Trp247Ter)
c.614G>A (p.Trp205Ter)
c.977G>A (p.Trp326Ter)
c.890G>A (p.Trp297Ter)
c.885+194G>A (n.885+194G>A)
c.893G>A (p.Trp298Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812902A>CCA363157990SLC17A1c.826T>G (p.Trp276Gly)
c.*77T>G (n.*77T>G)
c.735+193T>G (n.735+193T>G)
c.739T>G (p.Trp247Gly)
c.613T>G (p.Trp205Gly)
c.976T>G (p.Trp326Gly)
c.889T>G (p.Trp297Gly)
c.885+193T>G (n.885+193T>G)
c.892T>G (p.Trp298Gly)
6g.25812902A>GCA363157992SLC17A1c.826T>C (p.Trp276Arg)
c.*77T>C (n.*77T>C)
c.735+193T>C (n.735+193T>C)
c.739T>C (p.Trp247Arg)
c.613T>C (p.Trp205Arg)
c.976T>C (p.Trp326Arg)
c.889T>C (p.Trp297Arg)
c.885+193T>C (n.885+193T>C)
c.892T>C (p.Trp298Arg)
6g.25812902A>TCA363157993SLC17A1c.826T>A (p.Trp276Arg)
c.*77T>A (n.*77T>A)
c.735+193T>A (n.735+193T>A)
c.739T>A (p.Trp247Arg)
c.613T>A (p.Trp205Arg)
c.976T>A (p.Trp326Arg)
c.889T>A (p.Trp297Arg)
c.885+193T>A (n.885+193T>A)
c.892T>A (p.Trp298Arg)
6g.25812903G>ACA448980355SLC17A1c.825C>T (p.Phe275=)
c.*76C>T (n.*76C>T)
c.735+192C>T (n.735+192C>T)
c.738C>T (p.Phe246=)
c.612C>T (p.Phe204=)
c.975C>T (p.Phe325=)
c.888C>T (p.Phe296=)
c.885+192C>T (n.885+192C>T)
c.891C>T (p.Phe297=)
COSMIC
6g.25812903G>CCA363157995SLC17A1c.825C>G (p.Phe275Leu)
c.*76C>G (n.*76C>G)
c.735+192C>G (n.735+192C>G)
c.738C>G (p.Phe246Leu)
c.612C>G (p.Phe204Leu)
c.975C>G (p.Phe325Leu)
c.888C>G (p.Phe296Leu)
c.885+192C>G (n.885+192C>G)
c.891C>G (p.Phe297Leu)
6g.25812903G>TCA363157997SLC17A1c.825C>A (p.Phe275Leu)
c.*76C>A (n.*76C>A)
c.735+192C>A (n.735+192C>A)
c.738C>A (p.Phe246Leu)
c.612C>A (p.Phe204Leu)
c.975C>A (p.Phe325Leu)
c.888C>A (p.Phe296Leu)
c.885+192C>A (n.885+192C>A)
c.891C>A (p.Phe297Leu)
6g.25812904A>CCA363157999SLC17A1c.824T>G (p.Phe275Cys)
c.*75T>G (n.*75T>G)
c.735+191T>G (n.735+191T>G)
c.737T>G (p.Phe246Cys)
c.611T>G (p.Phe204Cys)
c.974T>G (p.Phe325Cys)
c.887T>G (p.Phe296Cys)
c.885+191T>G (n.885+191T>G)
c.890T>G (p.Phe297Cys)
COSMIC
6g.25812904A>GCA363158000SLC17A1c.824T>C (p.Phe275Ser)
c.*75T>C (n.*75T>C)
c.735+191T>C (n.735+191T>C)
c.737T>C (p.Phe246Ser)
c.611T>C (p.Phe204Ser)
c.974T>C (p.Phe325Ser)
c.887T>C (p.Phe296Ser)
c.885+191T>C (n.885+191T>C)
c.890T>C (p.Phe297Ser)
6g.25812904A>TCA363158002SLC17A1c.824T>A (p.Phe275Tyr)
c.*75T>A (n.*75T>A)
c.735+191T>A (n.735+191T>A)
c.737T>A (p.Phe246Tyr)
c.611T>A (p.Phe204Tyr)
c.974T>A (p.Phe325Tyr)
c.887T>A (p.Phe296Tyr)
c.885+191T>A (n.885+191T>A)
c.890T>A (p.Phe297Tyr)
6g.25812905A>CCA363158005SLC17A1c.823T>G (p.Phe275Val)
c.*74T>G (n.*74T>G)
c.735+190T>G (n.735+190T>G)
c.736T>G (p.Phe246Val)
c.610T>G (p.Phe204Val)
c.973T>G (p.Phe325Val)
c.886T>G (p.Phe296Val)
c.885+190T>G (n.885+190T>G)
c.889T>G (p.Phe297Val)
6g.25812905A>GCA363158007SLC17A1c.823T>C (p.Phe275Leu)
c.*74T>C (n.*74T>C)
c.735+190T>C (n.735+190T>C)
c.736T>C (p.Phe246Leu)
c.610T>C (p.Phe204Leu)
c.973T>C (p.Phe325Leu)
c.886T>C (p.Phe296Leu)
c.885+190T>C (n.885+190T>C)
c.889T>C (p.Phe297Leu)
6g.25812905A>TCA363158004SLC17A1c.823T>A (p.Phe275Ile)
c.*74T>A (n.*74T>A)
c.735+190T>A (n.735+190T>A)
c.736T>A (p.Phe246Ile)
c.610T>A (p.Phe204Ile)
c.973T>A (p.Phe325Ile)
c.886T>A (p.Phe296Ile)
c.885+190T>A (n.885+190T>A)
c.889T>A (p.Phe297Ile)
6g.25812906A>CCA363158009SLC17A1c.822T>G (p.Phe274Leu)
c.*73T>G (n.*73T>G)
c.735+189T>G (n.735+189T>G)
c.735T>G (p.Phe245Leu)
c.609T>G (p.Phe203Leu)
c.972T>G (p.Phe324Leu)
c.885T>G (p.Phe295Leu)
c.885+189T>G (n.885+189T>G)
c.888T>G (p.Phe296Leu)
6g.25812906A>GCA448980356SLC17A1c.822T>C (p.Phe274=)
c.*73T>C (n.*73T>C)
c.735+189T>C (n.735+189T>C)
c.735T>C (p.Phe245=)
c.609T>C (p.Phe203=)
c.972T>C (p.Phe324=)
c.885T>C (p.Phe295=)
c.885+189T>C (n.885+189T>C)
c.888T>C (p.Phe296=)
6g.25812906A>TCA363158011SLC17A1c.822T>A (p.Phe274Leu)
c.*73T>A (n.*73T>A)
c.735+189T>A (n.735+189T>A)
c.735T>A (p.Phe245Leu)
c.609T>A (p.Phe203Leu)
c.972T>A (p.Phe324Leu)
c.885T>A (p.Phe295Leu)
c.885+189T>A (n.885+189T>A)
c.888T>A (p.Phe296Leu)
6g.25812907A>CCA363158012SLC17A1c.821T>G (p.Phe274Cys)
c.*72T>G (n.*72T>G)
c.735+188T>G (n.735+188T>G)
c.734T>G (p.Phe245Cys)
c.608T>G (p.Phe203Cys)
c.971T>G (p.Phe324Cys)
c.884T>G (p.Phe295Cys)
c.885+188T>G (n.885+188T>G)
c.887T>G (p.Phe296Cys)
6g.25812907A>GCA363158014SLC17A1c.821T>C (p.Phe274Ser)
c.*72T>C (n.*72T>C)
c.735+188T>C (n.735+188T>C)
c.734T>C (p.Phe245Ser)
c.608T>C (p.Phe203Ser)
c.971T>C (p.Phe324Ser)
c.884T>C (p.Phe295Ser)
c.885+188T>C (n.885+188T>C)
c.887T>C (p.Phe296Ser)
6g.25812907A>TCA363158016SLC17A1c.821T>A (p.Phe274Tyr)
c.*72T>A (n.*72T>A)
c.735+188T>A (n.735+188T>A)
c.734T>A (p.Phe245Tyr)
c.608T>A (p.Phe203Tyr)
c.971T>A (p.Phe324Tyr)
c.884T>A (p.Phe295Tyr)
c.885+188T>A (n.885+188T>A)
c.887T>A (p.Phe296Tyr)
6g.25812908A>CCA363158018SLC17A1c.820T>G (p.Phe274Val)
c.*71T>G (n.*71T>G)
c.735+187T>G (n.735+187T>G)
c.733T>G (p.Phe245Val)
c.607T>G (p.Phe203Val)
c.970T>G (p.Phe324Val)
c.883T>G (p.Phe295Val)
c.885+187T>G (n.885+187T>G)
c.886T>G (p.Phe296Val)
6g.25812908A>GCA363158019SLC17A1c.820T>C (p.Phe274Leu)
c.*71T>C (n.*71T>C)
c.735+187T>C (n.735+187T>C)
c.733T>C (p.Phe245Leu)
c.607T>C (p.Phe203Leu)
c.970T>C (p.Phe324Leu)
c.883T>C (p.Phe295Leu)
c.885+187T>C (n.885+187T>C)
c.886T>C (p.Phe296Leu)
6g.25812908A>TCA363158021SLC17A1c.820T>A (p.Phe274Ile)
c.*71T>A (n.*71T>A)
c.735+187T>A (n.735+187T>A)
c.733T>A (p.Phe245Ile)
c.607T>A (p.Phe203Ile)
c.970T>A (p.Phe324Ile)
c.883T>A (p.Phe295Ile)
c.885+187T>A (n.885+187T>A)
c.886T>A (p.Phe296Ile)
6g.25812909C>ACA448980357SLC17A1c.819G>T (p.Thr273=)
c.*70G>T (n.*70G>T)
c.735+186G>T (n.735+186G>T)
c.732G>T (p.Thr244=)
c.606G>T (p.Thr202=)
c.969G>T (p.Thr323=)
c.882G>T (p.Thr294=)
c.885+186G>T (n.885+186G>T)
c.885G>T (p.Thr295=)
gnomAD v4
6g.25812909C=CA1616765622SLC17A1c.819G= (p.Thr273=)
c.*70G= (n.*70G=)
c.735+186G= (n.735+186G=)
c.732G= (p.Thr244=)
c.606G= (p.Thr202=)
c.969G= (p.Thr323=)
c.882G= (p.Thr294=)
c.885+186G= (n.885+186G=)
c.885G= (p.Thr295=)
6g.25812909C>GCA448980358SLC17A1c.819G>C (p.Thr273=)
c.*70G>C (n.*70G>C)
c.735+186G>C (n.735+186G>C)
c.732G>C (p.Thr244=)
c.606G>C (p.Thr202=)
c.969G>C (p.Thr323=)
c.882G>C (p.Thr294=)
c.885+186G>C (n.885+186G>C)
c.885G>C (p.Thr295=)
6g.25812909C>TCA3662591SLC17A1c.819G>A (p.Thr273=)
c.*70G>A (n.*70G>A)
c.735+186G>A (n.735+186G>A)
c.732G>A (p.Thr244=)
c.606G>A (p.Thr202=)
c.969G>A (p.Thr323=)
c.882G>A (p.Thr294=)
c.885+186G>A (n.885+186G>A)
c.885G>A (p.Thr295=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.25812910G>ACA3662592SLC17A1c.818C>T (p.Thr273Met)
c.*69C>T (n.*69C>T)
c.735+185C>T (n.735+185C>T)
c.731C>T (p.Thr244Met)
c.605C>T (p.Thr202Met)
c.968C>T (p.Thr323Met)
c.881C>T (p.Thr294Met)
c.885+185C>T (n.885+185C>T)
c.884C>T (p.Thr295Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812910G>CCA363158024SLC17A1c.818C>G (p.Thr273Arg)
c.*69C>G (n.*69C>G)
c.735+185C>G (n.735+185C>G)
c.731C>G (p.Thr244Arg)
c.605C>G (p.Thr202Arg)
c.968C>G (p.Thr323Arg)
c.881C>G (p.Thr294Arg)
c.885+185C>G (n.885+185C>G)
c.884C>G (p.Thr295Arg)
6g.25812910G=CA1616765624SLC17A1c.818C= (p.Thr273=)
c.*69C= (n.*69C=)
c.735+185C= (n.735+185C=)
c.731C= (p.Thr244=)
c.605C= (p.Thr202=)
c.968C= (p.Thr323=)
c.881C= (p.Thr294=)
c.885+185C= (n.885+185C=)
c.884C= (p.Thr295=)
6g.25812910G>TCA363158026SLC17A1c.818C>A (p.Thr273Lys)
c.*69C>A (n.*69C>A)
c.735+185C>A (n.735+185C>A)
c.731C>A (p.Thr244Lys)
c.605C>A (p.Thr202Lys)
c.968C>A (p.Thr323Lys)
c.881C>A (p.Thr294Lys)
c.885+185C>A (n.885+185C>A)
c.884C>A (p.Thr295Lys)
6g.25812910_25812911delinsGTCA1616765623SLC17A1c.817_818delinsAC (p.Thr273=)
c.*68_*69delinsAC (n.*68_*69delinsAC)
c.735+184_735+185delinsAC (n.735+184_735+185delinsAC)
c.730_731delinsAC (p.Thr244=)
c.604_605delinsAC (p.Thr202=)
c.967_968delinsAC (p.Thr323=)
c.880_881delinsAC (p.Thr294=)
c.885+184_885+185delinsAC (n.885+184_885+185delinsAC)
c.883_884delinsAC (p.Thr295=)
6g.25812911delCA3662593SLC17A1c.817del (p.Thr273ArgfsTer9)
c.*68del (n.*68del)
c.735+184del (n.735+184del)
c.730del (p.Thr244ArgfsTer9)
c.604del (p.Thr202ArgfsTer9)
c.967del (p.Thr323ArgfsTer9)
c.880del (p.Thr294ArgfsTer9)
c.885+184del (n.885+184del)
c.883del (p.Thr295ArgfsTer9)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812911T>ACA363158029SLC17A1c.817A>T (p.Thr273Ser)
c.*68A>T (n.*68A>T)
c.735+184A>T (n.735+184A>T)
c.730A>T (p.Thr244Ser)
c.604A>T (p.Thr202Ser)
c.967A>T (p.Thr323Ser)
c.880A>T (p.Thr294Ser)
c.885+184A>T (n.885+184A>T)
c.883A>T (p.Thr295Ser)
6g.25812911T>CCA363158031SLC17A1c.817A>G (p.Thr273Ala)
c.*68A>G (n.*68A>G)
c.735+184A>G (n.735+184A>G)
c.730A>G (p.Thr244Ala)
c.604A>G (p.Thr202Ala)
c.967A>G (p.Thr323Ala)
c.880A>G (p.Thr294Ala)
c.885+184A>G (n.885+184A>G)
c.883A>G (p.Thr295Ala)
6g.25812911T>GCA363158028SLC17A1c.817A>C (p.Thr273Pro)
c.*68A>C (n.*68A>C)
c.735+184A>C (n.735+184A>C)
c.730A>C (p.Thr244Pro)
c.604A>C (p.Thr202Pro)
c.967A>C (p.Thr323Pro)
c.880A>C (p.Thr294Pro)
c.885+184A>C (n.885+184A>C)
c.883A>C (p.Thr295Pro)
6g.25812912A=CA1616765625SLC17A1c.816T= (p.Phe272=)
c.*67T= (n.*67T=)
c.735+183T= (n.735+183T=)
c.729T= (p.Phe243=)
c.603T= (p.Phe201=)
c.966T= (p.Phe322=)
c.879T= (p.Phe293=)
c.885+183T= (n.885+183T=)
c.882T= (p.Phe294=)
6g.25812912A>CCA363158033SLC17A1c.816T>G (p.Phe272Leu)
c.*67T>G (n.*67T>G)
c.735+183T>G (n.735+183T>G)
c.729T>G (p.Phe243Leu)
c.603T>G (p.Phe201Leu)
c.966T>G (p.Phe322Leu)
c.879T>G (p.Phe293Leu)
c.885+183T>G (n.885+183T>G)
c.882T>G (p.Phe294Leu)
6g.25812912A>GCA136229876SLC17A1c.816T>C (p.Phe272=)
c.*67T>C (n.*67T>C)
c.735+183T>C (n.735+183T>C)
c.729T>C (p.Phe243=)
c.603T>C (p.Phe201=)
c.966T>C (p.Phe322=)
c.879T>C (p.Phe293=)
c.885+183T>C (n.885+183T>C)
c.882T>C (p.Phe294=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.25812912A>TCA363158035SLC17A1c.816T>A (p.Phe272Leu)
c.*67T>A (n.*67T>A)
c.735+183T>A (n.735+183T>A)
c.729T>A (p.Phe243Leu)
c.603T>A (p.Phe201Leu)
c.966T>A (p.Phe322Leu)
c.879T>A (p.Phe293Leu)
c.885+183T>A (n.885+183T>A)
c.882T>A (p.Phe294Leu)
gnomAD v4
6g.25812913A>CCA363158037SLC17A1c.815T>G (p.Phe272Cys)
c.*66T>G (n.*66T>G)
c.735+182T>G (n.735+182T>G)
c.728T>G (p.Phe243Cys)
c.602T>G (p.Phe201Cys)
c.965T>G (p.Phe322Cys)
c.878T>G (p.Phe293Cys)
c.885+182T>G (n.885+182T>G)
c.881T>G (p.Phe294Cys)
6g.25812913A>GCA363158039SLC17A1c.815T>C (p.Phe272Ser)
c.*66T>C (n.*66T>C)
c.735+182T>C (n.735+182T>C)
c.728T>C (p.Phe243Ser)
c.602T>C (p.Phe201Ser)
c.965T>C (p.Phe322Ser)
c.878T>C (p.Phe293Ser)
c.885+182T>C (n.885+182T>C)
c.881T>C (p.Phe294Ser)
6g.25812913A>TCA363158040SLC17A1c.815T>A (p.Phe272Tyr)
c.*66T>A (n.*66T>A)
c.735+182T>A (n.735+182T>A)
c.728T>A (p.Phe243Tyr)
c.602T>A (p.Phe201Tyr)
c.965T>A (p.Phe322Tyr)
c.878T>A (p.Phe293Tyr)
c.885+182T>A (n.885+182T>A)
c.881T>A (p.Phe294Tyr)
6g.25812914A>CCA363158045SLC17A1c.814T>G (p.Phe272Val)
c.*65T>G (n.*65T>G)
c.735+181T>G (n.735+181T>G)
c.727T>G (p.Phe243Val)
c.601T>G (p.Phe201Val)
c.964T>G (p.Phe322Val)
c.877T>G (p.Phe293Val)
c.885+181T>G (n.885+181T>G)
c.880T>G (p.Phe294Val)
6g.25812914A>GCA363158041SLC17A1c.814T>C (p.Phe272Leu)
c.*65T>C (n.*65T>C)
c.735+181T>C (n.735+181T>C)
c.727T>C (p.Phe243Leu)
c.601T>C (p.Phe201Leu)
c.964T>C (p.Phe322Leu)
c.877T>C (p.Phe293Leu)
c.885+181T>C (n.885+181T>C)
c.880T>C (p.Phe294Leu)
6g.25812914A>TCA363158043SLC17A1c.814T>A (p.Phe272Ile)
c.*65T>A (n.*65T>A)
c.735+181T>A (n.735+181T>A)
c.727T>A (p.Phe243Ile)
c.601T>A (p.Phe201Ile)
c.964T>A (p.Phe322Ile)
c.877T>A (p.Phe293Ile)
c.885+181T>A (n.885+181T>A)
c.880T>A (p.Phe294Ile)
6g.25812915A=CA1616765626SLC17A1c.813T= (p.Ser271=)
c.*64T= (n.*64T=)
c.735+180T= (n.735+180T=)
c.726T= (p.Ser242=)
c.600T= (p.Ser200=)
c.963T= (p.Ser321=)
c.876T= (p.Ser292=)
c.885+180T= (n.885+180T=)
c.879T= (p.Ser293=)
6g.25812915A>CCA363158047SLC17A1c.813T>G (p.Ser271Arg)
c.*64T>G (n.*64T>G)
c.735+180T>G (n.735+180T>G)
c.726T>G (p.Ser242Arg)
c.600T>G (p.Ser200Arg)
c.963T>G (p.Ser321Arg)
c.876T>G (p.Ser292Arg)
c.885+180T>G (n.885+180T>G)
c.879T>G (p.Ser293Arg)
6g.25812915A>GCA448980359SLC17A1c.813T>C (p.Ser271=)
c.*64T>C (n.*64T>C)
c.735+180T>C (n.735+180T>C)
c.726T>C (p.Ser242=)
c.600T>C (p.Ser200=)
c.963T>C (p.Ser321=)
c.876T>C (p.Ser292=)
c.885+180T>C (n.885+180T>C)
c.879T>C (p.Ser293=)
dbSNP gnomAD v2 gnomAD v4
6g.25812915A>TCA363158048SLC17A1c.813T>A (p.Ser271Arg)
c.*64T>A (n.*64T>A)
c.735+180T>A (n.735+180T>A)
c.726T>A (p.Ser242Arg)
c.600T>A (p.Ser200Arg)
c.963T>A (p.Ser321Arg)
c.876T>A (p.Ser292Arg)
c.885+180T>A (n.885+180T>A)
c.879T>A (p.Ser293Arg)
6g.25812916C>ACA363158049SLC17A1c.812G>T (p.Ser271Ile)
c.*63G>T (n.*63G>T)
c.735+179G>T (n.735+179G>T)
c.725G>T (p.Ser242Ile)
c.599G>T (p.Ser200Ile)
c.962G>T (p.Ser321Ile)
c.875G>T (p.Ser292Ile)
c.885+179G>T (n.885+179G>T)
c.878G>T (p.Ser293Ile)
6g.25812916C>GCA363158050SLC17A1c.812G>C (p.Ser271Thr)
c.*63G>C (n.*63G>C)
c.735+179G>C (n.735+179G>C)
c.725G>C (p.Ser242Thr)
c.599G>C (p.Ser200Thr)
c.962G>C (p.Ser321Thr)
c.875G>C (p.Ser292Thr)
c.885+179G>C (n.885+179G>C)
c.878G>C (p.Ser293Thr)
6g.25812916C>TCA363158051SLC17A1c.812G>A (p.Ser271Asn)
c.*63G>A (n.*63G>A)
c.735+179G>A (n.735+179G>A)
c.725G>A (p.Ser242Asn)
c.599G>A (p.Ser200Asn)
c.962G>A (p.Ser321Asn)
c.875G>A (p.Ser292Asn)
c.885+179G>A (n.885+179G>A)
c.878G>A (p.Ser293Asn)
6g.25812917delCA2677592041SLC17A1c.811del (p.Ser271ValfsTer11)
c.*62del (n.*62del)
c.735+178del (n.735+178del)
c.724del (p.Ser242ValfsTer11)
c.598del (p.Ser200ValfsTer11)
c.961del (p.Ser321ValfsTer11)
c.874del (p.Ser292ValfsTer11)
c.885+178del (n.885+178del)
c.877del (p.Ser293ValfsTer11)
gnomAD v4
6g.25812917T>ACA363158053SLC17A1c.811A>T (p.Ser271Cys)
c.*62A>T (n.*62A>T)
c.735+178A>T (n.735+178A>T)
c.724A>T (p.Ser242Cys)
c.598A>T (p.Ser200Cys)
c.961A>T (p.Ser321Cys)
c.874A>T (p.Ser292Cys)
c.885+178A>T (n.885+178A>T)
c.877A>T (p.Ser293Cys)
dbSNP
6g.25812917T>CCA363158056SLC17A1c.811A>G (p.Ser271Gly)
c.*62A>G (n.*62A>G)
c.735+178A>G (n.735+178A>G)
c.724A>G (p.Ser242Gly)
c.598A>G (p.Ser200Gly)
c.961A>G (p.Ser321Gly)
c.874A>G (p.Ser292Gly)
c.885+178A>G (n.885+178A>G)
c.877A>G (p.Ser293Gly)
dbSNP
6g.25812917T>GCA363158055SLC17A1c.811A>C (p.Ser271Arg)
c.*62A>C (n.*62A>C)
c.735+178A>C (n.735+178A>C)
c.724A>C (p.Ser242Arg)
c.598A>C (p.Ser200Arg)
c.961A>C (p.Ser321Arg)
c.874A>C (p.Ser292Arg)
c.885+178A>C (n.885+178A>C)
c.877A>C (p.Ser293Arg)
gnomAD v4
6g.25812917T=CA1616765627SLC17A1c.811A= (p.Ser271=)
c.*62A= (n.*62A=)
c.735+178A= (n.735+178A=)
c.724A= (p.Ser242=)
c.598A= (p.Ser200=)
c.961A= (p.Ser321=)
c.874A= (p.Ser292=)
c.885+178A= (n.885+178A=)
c.877A= (p.Ser293=)
6g.25812918A>CCA448980360SLC17A1c.810T>G (p.Gly270=)
c.*61T>G (n.*61T>G)
c.735+177T>G (n.735+177T>G)
c.723T>G (p.Gly241=)
c.597T>G (p.Gly199=)
c.960T>G (p.Gly320=)
c.873T>G (p.Gly291=)
c.885+177T>G (n.885+177T>G)
c.876T>G (p.Gly292=)
6g.25812918A>GCA448980361SLC17A1c.810T>C (p.Gly270=)
c.*61T>C (n.*61T>C)
c.735+177T>C (n.735+177T>C)
c.723T>C (p.Gly241=)
c.597T>C (p.Gly199=)
c.960T>C (p.Gly320=)
c.873T>C (p.Gly291=)
c.885+177T>C (n.885+177T>C)
c.876T>C (p.Gly292=)
6g.25812918A>TCA448980362SLC17A1c.810T>A (p.Gly270=)
c.*61T>A (n.*61T>A)
c.735+177T>A (n.735+177T>A)
c.723T>A (p.Gly241=)
c.597T>A (p.Gly199=)
c.960T>A (p.Gly320=)
c.873T>A (p.Gly291=)
c.885+177T>A (n.885+177T>A)
c.876T>A (p.Gly292=)
6g.25812919C>ACA363158058SLC17A1c.809G>T (p.Gly270Val)
c.*60G>T (n.*60G>T)
c.735+176G>T (n.735+176G>T)
c.722G>T (p.Gly241Val)
c.596G>T (p.Gly199Val)
c.959G>T (p.Gly320Val)
c.872G>T (p.Gly291Val)
c.885+176G>T (n.885+176G>T)
c.875G>T (p.Gly292Val)
gnomAD v4
6g.25812919C>GCA363158062SLC17A1c.809G>C (p.Gly270Ala)
c.*60G>C (n.*60G>C)
c.735+176G>C (n.735+176G>C)
c.722G>C (p.Gly241Ala)
c.596G>C (p.Gly199Ala)
c.959G>C (p.Gly320Ala)
c.872G>C (p.Gly291Ala)
c.885+176G>C (n.885+176G>C)
c.875G>C (p.Gly292Ala)
6g.25812919C>TCA363158060SLC17A1c.809G>A (p.Gly270Asp)
c.*60G>A (n.*60G>A)
c.735+176G>A (n.735+176G>A)
c.722G>A (p.Gly241Asp)
c.596G>A (p.Gly199Asp)
c.959G>A (p.Gly320Asp)
c.872G>A (p.Gly291Asp)
c.885+176G>A (n.885+176G>A)
c.875G>A (p.Gly292Asp)
6g.25812920C>ACA363158063SLC17A1c.808G>T (p.Gly270Cys)
c.*59G>T (n.*59G>T)
c.735+175G>T (n.735+175G>T)
c.721G>T (p.Gly241Cys)
c.595G>T (p.Gly199Cys)
c.958G>T (p.Gly320Cys)
c.871G>T (p.Gly291Cys)
c.885+175G>T (n.885+175G>T)
c.874G>T (p.Gly292Cys)
6g.25812920C=CA1616765628SLC17A1c.808G= (p.Gly270=)
c.*59G= (n.*59G=)
c.735+175G= (n.735+175G=)
c.721G= (p.Gly241=)
c.595G= (p.Gly199=)
c.958G= (p.Gly320=)
c.871G= (p.Gly291=)
c.885+175G= (n.885+175G=)
c.874G= (p.Gly292=)
6g.25812920C>GCA363158065SLC17A1c.808G>C (p.Gly270Arg)
c.*59G>C (n.*59G>C)
c.735+175G>C (n.735+175G>C)
c.721G>C (p.Gly241Arg)
c.595G>C (p.Gly199Arg)
c.958G>C (p.Gly320Arg)
c.871G>C (p.Gly291Arg)
c.885+175G>C (n.885+175G>C)
c.874G>C (p.Gly292Arg)
6g.25812920C>TCA3662594SLC17A1c.808G>A (p.Gly270Ser)
c.*59G>A (n.*59G>A)
c.735+175G>A (n.735+175G>A)
c.721G>A (p.Gly241Ser)
c.595G>A (p.Gly199Ser)
c.958G>A (p.Gly320Ser)
c.871G>A (p.Gly291Ser)
c.885+175G>A (n.885+175G>A)
c.874G>A (p.Gly292Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812921A=CA1616765629SLC17A1c.807T= (p.Thr269=)
c.*58T= (n.*58T=)
c.735+174T= (n.735+174T=)
c.720T= (p.Thr240=)
c.594T= (p.Thr198=)
c.957T= (p.Thr319=)
c.870T= (p.Thr290=)
c.885+174T= (n.885+174T=)
c.873T= (p.Thr291=)
6g.25812921A>CCA3662595SLC17A1c.807T>G (p.Thr269=)
c.*58T>G (n.*58T>G)
c.735+174T>G (n.735+174T>G)
c.720T>G (p.Thr240=)
c.594T>G (p.Thr198=)
c.957T>G (p.Thr319=)
c.870T>G (p.Thr290=)
c.885+174T>G (n.885+174T>G)
c.873T>G (p.Thr291=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812921A>GCA448980363SLC17A1c.807T>C (p.Thr269=)
c.*58T>C (n.*58T>C)
c.735+174T>C (n.735+174T>C)
c.720T>C (p.Thr240=)
c.594T>C (p.Thr198=)
c.957T>C (p.Thr319=)
c.870T>C (p.Thr290=)
c.885+174T>C (n.885+174T>C)
c.873T>C (p.Thr291=)
6g.25812921A>TCA448980364SLC17A1c.807T>A (p.Thr269=)
c.*58T>A (n.*58T>A)
c.735+174T>A (n.735+174T>A)
c.720T>A (p.Thr240=)
c.594T>A (p.Thr198=)
c.957T>A (p.Thr319=)
c.870T>A (p.Thr290=)
c.885+174T>A (n.885+174T>A)
c.873T>A (p.Thr291=)
6g.25812922G>ACA3662596SLC17A1c.806C>T (p.Thr269Ile)
c.*57C>T (n.*57C>T)
c.735+173C>T (n.735+173C>T)
c.719C>T (p.Thr240Ile)
c.593C>T (p.Thr198Ile)
c.956C>T (p.Thr319Ile)
c.869C>T (p.Thr290Ile)
c.885+173C>T (n.885+173C>T)
c.872C>T (p.Thr291Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812922G>CCA363158068SLC17A1c.806C>G (p.Thr269Ser)
c.*57C>G (n.*57C>G)
c.735+173C>G (n.735+173C>G)
c.719C>G (p.Thr240Ser)
c.593C>G (p.Thr198Ser)
c.956C>G (p.Thr319Ser)
c.869C>G (p.Thr290Ser)
c.885+173C>G (n.885+173C>G)
c.872C>G (p.Thr291Ser)
dbSNP
6g.25812922G=CA1616765630SLC17A1c.806C= (p.Thr269=)
c.*57C= (n.*57C=)
c.735+173C= (n.735+173C=)
c.719C= (p.Thr240=)
c.593C= (p.Thr198=)
c.956C= (p.Thr319=)
c.869C= (p.Thr290=)
c.885+173C= (n.885+173C=)
c.872C= (p.Thr291=)
6g.25812922G>TCA363158069SLC17A1c.806C>A (p.Thr269Asn)
c.*57C>A (n.*57C>A)
c.735+173C>A (n.735+173C>A)
c.719C>A (p.Thr240Asn)
c.593C>A (p.Thr198Asn)
c.956C>A (p.Thr319Asn)
c.869C>A (p.Thr290Asn)
c.885+173C>A (n.885+173C>A)
c.872C>A (p.Thr291Asn)
6g.25812923T>ACA363158070SLC17A1c.805A>T (p.Thr269Ser)
c.*56A>T (n.*56A>T)
c.735+172A>T (n.735+172A>T)
c.718A>T (p.Thr240Ser)
c.592A>T (p.Thr198Ser)
c.955A>T (p.Thr319Ser)
c.868A>T (p.Thr290Ser)
c.885+172A>T (n.885+172A>T)
c.871A>T (p.Thr291Ser)
6g.25812923T>CCA363158071SLC17A1c.805A>G (p.Thr269Ala)
c.*56A>G (n.*56A>G)
c.735+172A>G (n.735+172A>G)
c.718A>G (p.Thr240Ala)
c.592A>G (p.Thr198Ala)
c.955A>G (p.Thr319Ala)
c.868A>G (p.Thr290Ala)
c.885+172A>G (n.885+172A>G)
c.871A>G (p.Thr291Ala)
gnomAD v4 COSMIC
6g.25812923T>GCA363158072SLC17A1c.805A>C (p.Thr269Pro)
c.*56A>C (n.*56A>C)
c.735+172A>C (n.735+172A>C)
c.718A>C (p.Thr240Pro)
c.592A>C (p.Thr198Pro)
c.955A>C (p.Thr319Pro)
c.868A>C (p.Thr290Pro)
c.885+172A>C (n.885+172A>C)
c.871A>C (p.Thr291Pro)
6g.25812924G>ACA448980365SLC17A1c.804C>T (p.Ser268=)
c.*55C>T (n.*55C>T)
c.735+171C>T (n.735+171C>T)
c.717C>T (p.Ser239=)
c.591C>T (p.Ser197=)
c.954C>T (p.Ser318=)
c.867C>T (p.Ser289=)
c.885+171C>T (n.885+171C>T)
c.870C>T (p.Ser290=)
6g.25812924G>CCA448980366SLC17A1c.804C>G (p.Ser268=)
c.*55C>G (n.*55C>G)
c.735+171C>G (n.735+171C>G)
c.717C>G (p.Ser239=)
c.591C>G (p.Ser197=)
c.954C>G (p.Ser318=)
c.867C>G (p.Ser289=)
c.885+171C>G (n.885+171C>G)
c.870C>G (p.Ser290=)
6g.25812924G>TCA448980367SLC17A1c.804C>A (p.Ser268=)
c.*55C>A (n.*55C>A)
c.735+171C>A (n.735+171C>A)
c.717C>A (p.Ser239=)
c.591C>A (p.Ser197=)
c.954C>A (p.Ser318=)
c.867C>A (p.Ser289=)
c.885+171C>A (n.885+171C>A)
c.870C>A (p.Ser290=)
6g.25812925G>ACA363158073SLC17A1c.803C>T (p.Ser268Phe)
c.*54C>T (n.*54C>T)
c.735+170C>T (n.735+170C>T)
c.716C>T (p.Ser239Phe)
c.590C>T (p.Ser197Phe)
c.953C>T (p.Ser318Phe)
c.866C>T (p.Ser289Phe)
c.885+170C>T (n.885+170C>T)
c.869C>T (p.Ser290Phe)
COSMIC
6g.25812925G>CCA363158074SLC17A1c.803C>G (p.Ser268Cys)
c.*54C>G (n.*54C>G)
c.735+170C>G (n.735+170C>G)
c.716C>G (p.Ser239Cys)
c.590C>G (p.Ser197Cys)
c.953C>G (p.Ser318Cys)
c.866C>G (p.Ser289Cys)
c.885+170C>G (n.885+170C>G)
c.869C>G (p.Ser290Cys)
6g.25812925G>TCA363158075SLC17A1c.803C>A (p.Ser268Tyr)
c.*54C>A (n.*54C>A)
c.735+170C>A (n.735+170C>A)
c.716C>A (p.Ser239Tyr)
c.590C>A (p.Ser197Tyr)
c.953C>A (p.Ser318Tyr)
c.866C>A (p.Ser289Tyr)
c.885+170C>A (n.885+170C>A)
c.869C>A (p.Ser290Tyr)
gnomAD v4
6g.25812926A=CA1616765631SLC17A1c.802T= (p.Ser268=)
c.*53T= (n.*53T=)
c.735+169T= (n.735+169T=)
c.715T= (p.Ser239=)
c.589T= (p.Ser197=)
c.952T= (p.Ser318=)
c.865T= (p.Ser289=)
c.885+169T= (n.885+169T=)
c.868T= (p.Ser290=)
6g.25812926A>CCA3662597SLC17A1c.802T>G (p.Ser268Ala)
c.*53T>G (n.*53T>G)
c.735+169T>G (n.735+169T>G)
c.715T>G (p.Ser239Ala)
c.589T>G (p.Ser197Ala)
c.952T>G (p.Ser318Ala)
c.865T>G (p.Ser289Ala)
c.885+169T>G (n.885+169T>G)
c.868T>G (p.Ser290Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812926A>GCA363158077SLC17A1c.802T>C (p.Ser268Pro)
c.*53T>C (n.*53T>C)
c.735+169T>C (n.735+169T>C)
c.715T>C (p.Ser239Pro)
c.589T>C (p.Ser197Pro)
c.952T>C (p.Ser318Pro)
c.865T>C (p.Ser289Pro)
c.885+169T>C (n.885+169T>C)
c.868T>C (p.Ser290Pro)
gnomAD v4
6g.25812926A>TCA363158076SLC17A1c.802T>A (p.Ser268Thr)
c.*53T>A (n.*53T>A)
c.735+169T>A (n.735+169T>A)
c.715T>A (p.Ser239Thr)
c.589T>A (p.Ser197Thr)
c.952T>A (p.Ser318Thr)
c.865T>A (p.Ser289Thr)
c.885+169T>A (n.885+169T>A)
c.868T>A (p.Ser290Thr)
6g.25812927A>CCA363158078SLC17A1c.801T>G (p.Ile267Met)
c.*52T>G (n.*52T>G)
c.735+168T>G (n.735+168T>G)
c.714T>G (p.Ile238Met)
c.588T>G (p.Ile196Met)
c.951T>G (p.Ile317Met)
c.864T>G (p.Ile288Met)
c.885+168T>G (n.885+168T>G)
c.867T>G (p.Ile289Met)
6g.25812927A>GCA448980368SLC17A1c.801T>C (p.Ile267=)
c.*52T>C (n.*52T>C)
c.735+168T>C (n.735+168T>C)
c.714T>C (p.Ile238=)
c.588T>C (p.Ile196=)
c.951T>C (p.Ile317=)
c.864T>C (p.Ile288=)
c.885+168T>C (n.885+168T>C)
c.867T>C (p.Ile289=)
6g.25812927A>TCA448980369SLC17A1c.801T>A (p.Ile267=)
c.*52T>A (n.*52T>A)
c.735+168T>A (n.735+168T>A)
c.714T>A (p.Ile238=)
c.588T>A (p.Ile196=)
c.951T>A (p.Ile317=)
c.864T>A (p.Ile288=)
c.885+168T>A (n.885+168T>A)
c.867T>A (p.Ile289=)
6g.25812928A=CA1616765632SLC17A1c.800T= (p.Ile267=)
c.*51T= (n.*51T=)
c.735+167T= (n.735+167T=)
c.713T= (p.Ile238=)
c.587T= (p.Ile196=)
c.950T= (p.Ile317=)
c.863T= (p.Ile288=)
c.885+167T= (n.885+167T=)
c.866T= (p.Ile289=)
6g.25812928A>CCA363158079SLC17A1c.800T>G (p.Ile267Ser)
c.*51T>G (n.*51T>G)
c.735+167T>G (n.735+167T>G)
c.713T>G (p.Ile238Ser)
c.587T>G (p.Ile196Ser)
c.950T>G (p.Ile317Ser)
c.863T>G (p.Ile288Ser)
c.885+167T>G (n.885+167T>G)
c.866T>G (p.Ile289Ser)
6g.25812928A>GCA363158080SLC17A1c.800T>C (p.Ile267Thr)
c.*51T>C (n.*51T>C)
c.735+167T>C (n.735+167T>C)
c.713T>C (p.Ile238Thr)
c.587T>C (p.Ile196Thr)
c.950T>C (p.Ile317Thr)
c.863T>C (p.Ile288Thr)
c.885+167T>C (n.885+167T>C)
c.866T>C (p.Ile289Thr)
dbSNP gnomAD v2 gnomAD v4
6g.25812928A>TCA363158081SLC17A1c.800T>A (p.Ile267Asn)
c.*51T>A (n.*51T>A)
c.735+167T>A (n.735+167T>A)
c.713T>A (p.Ile238Asn)
c.587T>A (p.Ile196Asn)
c.950T>A (p.Ile317Asn)
c.863T>A (p.Ile288Asn)
c.885+167T>A (n.885+167T>A)
c.866T>A (p.Ile289Asn)
6g.25812929T>ACA363158082SLC17A1c.799A>T (p.Ile267Phe)
c.*50A>T (n.*50A>T)
c.735+166A>T (n.735+166A>T)
c.712A>T (p.Ile238Phe)
c.586A>T (p.Ile196Phe)
c.949A>T (p.Ile317Phe)
c.862A>T (p.Ile288Phe)
c.885+166A>T (n.885+166A>T)
c.865A>T (p.Ile289Phe)
6g.25812929T>CCA363158083SLC17A1c.799A>G (p.Ile267Val)
c.*50A>G (n.*50A>G)
c.735+166A>G (n.735+166A>G)
c.712A>G (p.Ile238Val)
c.586A>G (p.Ile196Val)
c.949A>G (p.Ile317Val)
c.862A>G (p.Ile288Val)
c.885+166A>G (n.885+166A>G)
c.865A>G (p.Ile289Val)
gnomAD v4
6g.25812929T>GCA363158084SLC17A1c.799A>C (p.Ile267Leu)
c.*50A>C (n.*50A>C)
c.735+166A>C (n.735+166A>C)
c.712A>C (p.Ile238Leu)
c.586A>C (p.Ile196Leu)
c.949A>C (p.Ile317Leu)
c.862A>C (p.Ile288Leu)
c.885+166A>C (n.885+166A>C)
c.865A>C (p.Ile289Leu)
6g.25812930A=CA1616765633SLC17A1c.798T= (p.Ala266=)
c.*49T= (n.*49T=)
c.735+165T= (n.735+165T=)
c.711T= (p.Ala237=)
c.585T= (p.Ala195=)
c.948T= (p.Ala316=)
c.861T= (p.Ala287=)
c.885+165T= (n.885+165T=)
c.864T= (p.Ala288=)
6g.25812930A>CCA448980370SLC17A1c.798T>G (p.Ala266=)
c.*49T>G (n.*49T>G)
c.735+165T>G (n.735+165T>G)
c.711T>G (p.Ala237=)
c.585T>G (p.Ala195=)
c.948T>G (p.Ala316=)
c.861T>G (p.Ala287=)
c.885+165T>G (n.885+165T>G)
c.864T>G (p.Ala288=)
6g.25812930A>GCA3662598SLC17A1c.798T>C (p.Ala266=)
c.*49T>C (n.*49T>C)
c.735+165T>C (n.735+165T>C)
c.711T>C (p.Ala237=)
c.585T>C (p.Ala195=)
c.948T>C (p.Ala316=)
c.861T>C (p.Ala287=)
c.885+165T>C (n.885+165T>C)
c.864T>C (p.Ala288=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812930A>TCA448980371SLC17A1c.798T>A (p.Ala266=)
c.*49T>A (n.*49T>A)
c.735+165T>A (n.735+165T>A)
c.711T>A (p.Ala237=)
c.585T>A (p.Ala195=)
c.948T>A (p.Ala316=)
c.861T>A (p.Ala287=)
c.885+165T>A (n.885+165T>A)
c.864T>A (p.Ala288=)
6g.25812931G>ACA363158085SLC17A1c.797C>T (p.Ala266Val)
c.*48C>T (n.*48C>T)
c.735+164C>T (n.735+164C>T)
c.710C>T (p.Ala237Val)
c.584C>T (p.Ala195Val)
c.947C>T (p.Ala316Val)
c.860C>T (p.Ala287Val)
c.885+164C>T (n.885+164C>T)
c.863C>T (p.Ala288Val)
6g.25812931G>CCA363158086SLC17A1c.797C>G (p.Ala266Gly)
c.*48C>G (n.*48C>G)
c.735+164C>G (n.735+164C>G)
c.710C>G (p.Ala237Gly)
c.584C>G (p.Ala195Gly)
c.947C>G (p.Ala316Gly)
c.860C>G (p.Ala287Gly)
c.885+164C>G (n.885+164C>G)
c.863C>G (p.Ala288Gly)
6g.25812931G>TCA363158087SLC17A1c.797C>A (p.Ala266Asp)
c.*48C>A (n.*48C>A)
c.735+164C>A (n.735+164C>A)
c.710C>A (p.Ala237Asp)
c.584C>A (p.Ala195Asp)
c.947C>A (p.Ala316Asp)
c.860C>A (p.Ala287Asp)
c.885+164C>A (n.885+164C>A)
c.863C>A (p.Ala288Asp)
COSMIC
6g.25812932C>ACA363158089SLC17A1c.796G>T (p.Ala266Ser)
c.*47G>T (n.*47G>T)
c.735+163G>T (n.735+163G>T)
c.709G>T (p.Ala237Ser)
c.583G>T (p.Ala195Ser)
c.946G>T (p.Ala316Ser)
c.859G>T (p.Ala287Ser)
c.885+163G>T (n.885+163G>T)
c.862G>T (p.Ala288Ser)
6g.25812932C=CA1616765634SLC17A1c.796G= (p.Ala266=)
c.*47G= (n.*47G=)
c.735+163G= (n.735+163G=)
c.709G= (p.Ala237=)
c.583G= (p.Ala195=)
c.946G= (p.Ala316=)
c.859G= (p.Ala287=)
c.885+163G= (n.885+163G=)
c.862G= (p.Ala288=)
6g.25812932C>GCA363158090SLC17A1c.796G>C (p.Ala266Pro)
c.*47G>C (n.*47G>C)
c.735+163G>C (n.735+163G>C)
c.709G>C (p.Ala237Pro)
c.583G>C (p.Ala195Pro)
c.946G>C (p.Ala316Pro)
c.859G>C (p.Ala287Pro)
c.885+163G>C (n.885+163G>C)
c.862G>C (p.Ala288Pro)
6g.25812932C>TCA363158088SLC17A1c.796G>A (p.Ala266Thr)
c.*47G>A (n.*47G>A)
c.735+163G>A (n.735+163G>A)
c.709G>A (p.Ala237Thr)
c.583G>A (p.Ala195Thr)
c.946G>A (p.Ala316Thr)
c.859G>A (p.Ala287Thr)
c.885+163G>A (n.885+163G>A)
c.862G>A (p.Ala288Thr)
dbSNP
6g.25812933C>ACA363158091SLC17A1c.795G>T (p.Trp265Cys)
c.*46G>T (n.*46G>T)
c.735+162G>T (n.735+162G>T)
c.708G>T (p.Trp236Cys)
c.582G>T (p.Trp194Cys)
c.945G>T (p.Trp315Cys)
c.858G>T (p.Trp286Cys)
c.885+162G>T (n.885+162G>T)
c.861G>T (p.Trp287Cys)
6g.25812933C>GCA363158092SLC17A1c.795G>C (p.Trp265Cys)
c.*46G>C (n.*46G>C)
c.735+162G>C (n.735+162G>C)
c.708G>C (p.Trp236Cys)
c.582G>C (p.Trp194Cys)
c.945G>C (p.Trp315Cys)
c.858G>C (p.Trp286Cys)
c.885+162G>C (n.885+162G>C)
c.861G>C (p.Trp287Cys)
6g.25812933C>TCA363158093SLC17A1c.795G>A (p.Trp265Ter)
c.*46G>A (n.*46G>A)
c.735+162G>A (n.735+162G>A)
c.708G>A (p.Trp236Ter)
c.582G>A (p.Trp194Ter)
c.945G>A (p.Trp315Ter)
c.858G>A (p.Trp286Ter)
c.885+162G>A (n.885+162G>A)
c.861G>A (p.Trp287Ter)
6g.25812934C>ACA363158094SLC17A1c.794G>T (p.Trp265Leu)
c.*45G>T (n.*45G>T)
c.735+161G>T (n.735+161G>T)
c.707G>T (p.Trp236Leu)
c.581G>T (p.Trp194Leu)
c.944G>T (p.Trp315Leu)
c.857G>T (p.Trp286Leu)
c.885+161G>T (n.885+161G>T)
c.860G>T (p.Trp287Leu)
6g.25812934C>GCA363158095SLC17A1c.794G>C (p.Trp265Ser)
c.*45G>C (n.*45G>C)
c.735+161G>C (n.735+161G>C)
c.707G>C (p.Trp236Ser)
c.581G>C (p.Trp194Ser)
c.944G>C (p.Trp315Ser)
c.857G>C (p.Trp286Ser)
c.885+161G>C (n.885+161G>C)
c.860G>C (p.Trp287Ser)
6g.25812934C>TCA363158096SLC17A1c.794G>A (p.Trp265Ter)
c.*45G>A (n.*45G>A)
c.735+161G>A (n.735+161G>A)
c.707G>A (p.Trp236Ter)
c.581G>A (p.Trp194Ter)
c.944G>A (p.Trp315Ter)
c.857G>A (p.Trp286Ter)
c.885+161G>A (n.885+161G>A)
c.860G>A (p.Trp287Ter)
6g.25812935A>CCA363158097SLC17A1c.793T>G (p.Trp265Gly)
c.*44T>G (n.*44T>G)
c.735+160T>G (n.735+160T>G)
c.706T>G (p.Trp236Gly)
c.580T>G (p.Trp194Gly)
c.943T>G (p.Trp315Gly)
c.856T>G (p.Trp286Gly)
c.885+160T>G (n.885+160T>G)
c.859T>G (p.Trp287Gly)
6g.25812935A>GCA363158098SLC17A1c.793T>C (p.Trp265Arg)
c.*44T>C (n.*44T>C)
c.735+160T>C (n.735+160T>C)
c.706T>C (p.Trp236Arg)
c.580T>C (p.Trp194Arg)
c.943T>C (p.Trp315Arg)
c.856T>C (p.Trp286Arg)
c.885+160T>C (n.885+160T>C)
c.859T>C (p.Trp287Arg)
dbSNP gnomAD v4
6g.25812935A>TCA363158099SLC17A1c.793T>A (p.Trp265Arg)
c.*44T>A (n.*44T>A)
c.735+160T>A (n.735+160T>A)
c.706T>A (p.Trp236Arg)
c.580T>A (p.Trp194Arg)
c.943T>A (p.Trp315Arg)
c.856T>A (p.Trp286Arg)
c.885+160T>A (n.885+160T>A)
c.859T>A (p.Trp287Arg)
6g.25812935_25812945delinsAGACTGGAAGCCA1616765635SLC17A1c.783_793delinsGCTTCCAGTCT (p.Ser261=)
c.*34_*44delinsGCTTCCAGTCT (n.*34_*44delinsGCTTCCAGTCT)
c.735+150_735+160delinsGCTTCCAGTCT (n.735+150_735+160delinsGCTTCCAGTCT)
c.696_706delinsGCTTCCAGTCT (p.Ser232=)
c.570_580delinsGCTTCCAGTCT (p.Ser190=)
c.933_943delinsGCTTCCAGTCT (p.Ser311=)
c.846_856delinsGCTTCCAGTCT (p.Ser282=)
c.885+150_885+160delinsGCTTCCAGTCT (n.885+150_885+160delinsGCTTCCAGTCT)
c.849_859delinsGCTTCCAGTCT (p.Ser283=)
6g.25812936G>ACA448980372SLC17A1c.792C>T (p.Val264=)
c.*43C>T (n.*43C>T)
c.735+159C>T (n.735+159C>T)
c.705C>T (p.Val235=)
c.579C>T (p.Val193=)
c.942C>T (p.Val314=)
c.855C>T (p.Val285=)
c.885+159C>T (n.885+159C>T)
c.858C>T (p.Val286=)
6g.25812936G>CCA448980373SLC17A1c.792C>G (p.Val264=)
c.*43C>G (n.*43C>G)
c.735+159C>G (n.735+159C>G)
c.705C>G (p.Val235=)
c.579C>G (p.Val193=)
c.942C>G (p.Val314=)
c.855C>G (p.Val285=)
c.885+159C>G (n.885+159C>G)
c.858C>G (p.Val286=)
6g.25812936G>TCA448980374SLC17A1c.792C>A (p.Val264=)
c.*43C>A (n.*43C>A)
c.735+159C>A (n.735+159C>A)
c.705C>A (p.Val235=)
c.579C>A (p.Val193=)
c.942C>A (p.Val314=)
c.855C>A (p.Val285=)
c.885+159C>A (n.885+159C>A)
c.858C>A (p.Val286=)
6g.25812940_25812949delCA1087048872SLC17A1c.783_792del (p.Leu262GlyfsTer17)
c.*34_*43del (n.*34_*43del)
c.735+150_735+159del (n.735+150_735+159del)
c.696_705del (p.Leu233GlyfsTer17)
c.570_579del (p.Leu191GlyfsTer17)
c.933_942del (p.Leu312GlyfsTer17)
c.846_855del (p.Leu283GlyfsTer17)
c.885+150_885+159del (n.885+150_885+159del)
c.849_858del (p.Leu284GlyfsTer17)
dbSNP
6g.25812937A>CCA363158100SLC17A1c.791T>G (p.Val264Gly)
c.*42T>G (n.*42T>G)
c.735+158T>G (n.735+158T>G)
c.704T>G (p.Val235Gly)
c.578T>G (p.Val193Gly)
c.941T>G (p.Val314Gly)
c.854T>G (p.Val285Gly)
c.885+158T>G (n.885+158T>G)
c.857T>G (p.Val286Gly)
6g.25812937A>GCA363158101SLC17A1c.791T>C (p.Val264Ala)
c.*42T>C (n.*42T>C)
c.735+158T>C (n.735+158T>C)
c.704T>C (p.Val235Ala)
c.578T>C (p.Val193Ala)
c.941T>C (p.Val314Ala)
c.854T>C (p.Val285Ala)
c.885+158T>C (n.885+158T>C)
c.857T>C (p.Val286Ala)
6g.25812937A>TCA363158102SLC17A1c.791T>A (p.Val264Asp)
c.*42T>A (n.*42T>A)
c.735+158T>A (n.735+158T>A)
c.704T>A (p.Val235Asp)
c.578T>A (p.Val193Asp)
c.941T>A (p.Val314Asp)
c.854T>A (p.Val285Asp)
c.885+158T>A (n.885+158T>A)
c.857T>A (p.Val286Asp)
6g.25812938C>ACA363158103SLC17A1c.790G>T (p.Val264Phe)
c.*41G>T (n.*41G>T)
c.735+157G>T (n.735+157G>T)
c.703G>T (p.Val235Phe)
c.577G>T (p.Val193Phe)
c.940G>T (p.Val314Phe)
c.853G>T (p.Val285Phe)
c.885+157G>T (n.885+157G>T)
c.856G>T (p.Val286Phe)
6g.25812938C=CA1616765636SLC17A1c.790G= (p.Val264=)
c.*41G= (n.*41G=)
c.735+157G= (n.735+157G=)
c.703G= (p.Val235=)
c.577G= (p.Val193=)
c.940G= (p.Val314=)
c.853G= (p.Val285=)
c.885+157G= (n.885+157G=)
c.856G= (p.Val286=)
6g.25812938C>GCA363158104SLC17A1c.790G>C (p.Val264Leu)
c.*41G>C (n.*41G>C)
c.735+157G>C (n.735+157G>C)
c.703G>C (p.Val235Leu)
c.577G>C (p.Val193Leu)
c.940G>C (p.Val314Leu)
c.853G>C (p.Val285Leu)
c.885+157G>C (n.885+157G>C)
c.856G>C (p.Val286Leu)
6g.25812938C>TCA136229889SLC17A1c.790G>A (p.Val264Ile)
c.*41G>A (n.*41G>A)
c.735+157G>A (n.735+157G>A)
c.703G>A (p.Val235Ile)
c.577G>A (p.Val193Ile)
c.940G>A (p.Val314Ile)
c.853G>A (p.Val285Ile)
c.885+157G>A (n.885+157G>A)
c.856G>A (p.Val286Ile)
dbSNP
6g.25812939T>ACA448980375SLC17A1c.789A>T (p.Pro263=)
c.*40A>T (n.*40A>T)
c.735+156A>T (n.735+156A>T)
c.702A>T (p.Pro234=)
c.576A>T (p.Pro192=)
c.939A>T (p.Pro313=)
c.852A>T (p.Pro284=)
c.885+156A>T (n.885+156A>T)
c.855A>T (p.Pro285=)
COSMIC
6g.25812939T>CCA448980377SLC17A1c.789A>G (p.Pro263=)
c.*40A>G (n.*40A>G)
c.735+156A>G (n.735+156A>G)
c.702A>G (p.Pro234=)
c.576A>G (p.Pro192=)
c.939A>G (p.Pro313=)
c.852A>G (p.Pro284=)
c.885+156A>G (n.885+156A>G)
c.855A>G (p.Pro285=)
6g.25812939T>GCA448980376SLC17A1c.789A>C (p.Pro263=)
c.*40A>C (n.*40A>C)
c.735+156A>C (n.735+156A>C)
c.702A>C (p.Pro234=)
c.576A>C (p.Pro192=)
c.939A>C (p.Pro313=)
c.852A>C (p.Pro284=)
c.885+156A>C (n.885+156A>C)
c.855A>C (p.Pro285=)
6g.25812940G>ACA363158105SLC17A1c.788C>T (p.Pro263Leu)
c.*39C>T (n.*39C>T)
c.735+155C>T (n.735+155C>T)
c.701C>T (p.Pro234Leu)
c.575C>T (p.Pro192Leu)
c.938C>T (p.Pro313Leu)
c.851C>T (p.Pro284Leu)
c.885+155C>T (n.885+155C>T)
c.854C>T (p.Pro285Leu)
gnomAD v4
6g.25812940G>CCA363158106SLC17A1c.788C>G (p.Pro263Arg)
c.*39C>G (n.*39C>G)
c.735+155C>G (n.735+155C>G)
c.701C>G (p.Pro234Arg)
c.575C>G (p.Pro192Arg)
c.938C>G (p.Pro313Arg)
c.851C>G (p.Pro284Arg)
c.885+155C>G (n.885+155C>G)
c.854C>G (p.Pro285Arg)
6g.25812940G>TCA363158108SLC17A1c.788C>A (p.Pro263Gln)
c.*39C>A (n.*39C>A)
c.735+155C>A (n.735+155C>A)
c.701C>A (p.Pro234Gln)
c.575C>A (p.Pro192Gln)
c.938C>A (p.Pro313Gln)
c.851C>A (p.Pro284Gln)
c.885+155C>A (n.885+155C>A)
c.854C>A (p.Pro285Gln)
6g.25812940_25812944delCA2677592042SLC17A1c.784_788del (p.Leu262SerfsTer8)
c.*35_*39del (n.*35_*39del)
c.735+151_735+155del (n.735+151_735+155del)
c.697_701del (p.Leu233SerfsTer8)
c.571_575del (p.Leu191SerfsTer8)
c.934_938del (p.Leu312SerfsTer8)
c.847_851del (p.Leu283SerfsTer8)
c.885+151_885+155del (n.885+151_885+155del)
c.850_854del (p.Leu284SerfsTer8)
gnomAD v4
6g.25812941G>ACA363158110SLC17A1c.787C>T (p.Pro263Ser)
c.*38C>T (n.*38C>T)
c.735+154C>T (n.735+154C>T)
c.700C>T (p.Pro234Ser)
c.574C>T (p.Pro192Ser)
c.937C>T (p.Pro313Ser)
c.850C>T (p.Pro284Ser)
c.885+154C>T (n.885+154C>T)
c.853C>T (p.Pro285Ser)
6g.25812941G>CCA363158112SLC17A1c.787C>G (p.Pro263Ala)
c.*38C>G (n.*38C>G)
c.735+154C>G (n.735+154C>G)
c.700C>G (p.Pro234Ala)
c.574C>G (p.Pro192Ala)
c.937C>G (p.Pro313Ala)
c.850C>G (p.Pro284Ala)
c.885+154C>G (n.885+154C>G)
c.853C>G (p.Pro285Ala)
6g.25812941G>TCA363158113SLC17A1c.787C>A (p.Pro263Thr)
c.*38C>A (n.*38C>A)
c.735+154C>A (n.735+154C>A)
c.700C>A (p.Pro234Thr)
c.574C>A (p.Pro192Thr)
c.937C>A (p.Pro313Thr)
c.850C>A (p.Pro284Thr)
c.885+154C>A (n.885+154C>A)
c.853C>A (p.Pro285Thr)
6g.25812942A>CCA448980378SLC17A1c.786T>G (p.Leu262=)
c.*37T>G (n.*37T>G)
c.735+153T>G (n.735+153T>G)
c.699T>G (p.Leu233=)
c.573T>G (p.Leu191=)
c.936T>G (p.Leu312=)
c.849T>G (p.Leu283=)
c.885+153T>G (n.885+153T>G)
c.852T>G (p.Leu284=)
6g.25812942A>GCA448980379SLC17A1c.786T>C (p.Leu262=)
c.*37T>C (n.*37T>C)
c.735+153T>C (n.735+153T>C)
c.699T>C (p.Leu233=)
c.573T>C (p.Leu191=)
c.936T>C (p.Leu312=)
c.849T>C (p.Leu283=)
c.885+153T>C (n.885+153T>C)
c.852T>C (p.Leu284=)
6g.25812942A>TCA448980380SLC17A1c.786T>A (p.Leu262=)
c.*37T>A (n.*37T>A)
c.735+153T>A (n.735+153T>A)
c.699T>A (p.Leu233=)
c.573T>A (p.Leu191=)
c.936T>A (p.Leu312=)
c.849T>A (p.Leu283=)
c.885+153T>A (n.885+153T>A)
c.852T>A (p.Leu284=)
6g.25812943A>CCA363158115SLC17A1c.785T>G (p.Leu262Arg)
c.*36T>G (n.*36T>G)
c.735+152T>G (n.735+152T>G)
c.698T>G (p.Leu233Arg)
c.572T>G (p.Leu191Arg)
c.935T>G (p.Leu312Arg)
c.848T>G (p.Leu283Arg)
c.885+152T>G (n.885+152T>G)
c.851T>G (p.Leu284Arg)
6g.25812943A>GCA363158119SLC17A1c.785T>C (p.Leu262Pro)
c.*36T>C (n.*36T>C)
c.735+152T>C (n.735+152T>C)
c.698T>C (p.Leu233Pro)
c.572T>C (p.Leu191Pro)
c.935T>C (p.Leu312Pro)
c.848T>C (p.Leu283Pro)
c.885+152T>C (n.885+152T>C)
c.851T>C (p.Leu284Pro)
gnomAD v4
6g.25812943A>TCA363158117SLC17A1c.785T>A (p.Leu262His)
c.*36T>A (n.*36T>A)
c.735+152T>A (n.735+152T>A)
c.698T>A (p.Leu233His)
c.572T>A (p.Leu191His)
c.935T>A (p.Leu312His)
c.848T>A (p.Leu283His)
c.885+152T>A (n.885+152T>A)
c.851T>A (p.Leu284His)
6g.25812944G>ACA3662599SLC17A1c.784C>T (p.Leu262Phe)
c.*35C>T (n.*35C>T)
c.735+151C>T (n.735+151C>T)
c.697C>T (p.Leu233Phe)
c.571C>T (p.Leu191Phe)
c.934C>T (p.Leu312Phe)
c.847C>T (p.Leu283Phe)
c.885+151C>T (n.885+151C>T)
c.850C>T (p.Leu284Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812944G>CCA363158121SLC17A1c.784C>G (p.Leu262Val)
c.*35C>G (n.*35C>G)
c.735+151C>G (n.735+151C>G)
c.697C>G (p.Leu233Val)
c.571C>G (p.Leu191Val)
c.934C>G (p.Leu312Val)
c.847C>G (p.Leu283Val)
c.885+151C>G (n.885+151C>G)
c.850C>G (p.Leu284Val)
6g.25812944G=CA1616765637SLC17A1c.784C= (p.Leu262=)
c.*35C= (n.*35C=)
c.735+151C= (n.735+151C=)
c.697C= (p.Leu233=)
c.571C= (p.Leu191=)
c.934C= (p.Leu312=)
c.847C= (p.Leu283=)
c.885+151C= (n.885+151C=)
c.850C= (p.Leu284=)
6g.25812944G>TCA363158123SLC17A1c.784C>A (p.Leu262Ile)
c.*35C>A (n.*35C>A)
c.735+151C>A (n.735+151C>A)
c.697C>A (p.Leu233Ile)
c.571C>A (p.Leu191Ile)
c.934C>A (p.Leu312Ile)
c.847C>A (p.Leu283Ile)
c.885+151C>A (n.885+151C>A)
c.850C>A (p.Leu284Ile)
6g.25812945C>ACA448980381SLC17A1c.783G>T (p.Ser261=)
c.*34G>T (n.*34G>T)
c.735+150G>T (n.735+150G>T)
c.696G>T (p.Ser232=)
c.570G>T (p.Ser190=)
c.933G>T (p.Ser311=)
c.846G>T (p.Ser282=)
c.885+150G>T (n.885+150G>T)
c.849G>T (p.Ser283=)
6g.25812945C=CA1616765638SLC17A1c.783G= (p.Ser261=)
c.*34G= (n.*34G=)
c.735+150G= (n.735+150G=)
c.696G= (p.Ser232=)
c.570G= (p.Ser190=)
c.933G= (p.Ser311=)
c.846G= (p.Ser282=)
c.885+150G= (n.885+150G=)
c.849G= (p.Ser283=)
6g.25812945C>GCA448980382SLC17A1c.783G>C (p.Ser261=)
c.*34G>C (n.*34G>C)
c.735+150G>C (n.735+150G>C)
c.696G>C (p.Ser232=)
c.570G>C (p.Ser190=)
c.933G>C (p.Ser311=)
c.846G>C (p.Ser282=)
c.885+150G>C (n.885+150G>C)
c.849G>C (p.Ser283=)
6g.25812945C>TCA3662600SLC17A1c.783G>A (p.Ser261=)
c.*34G>A (n.*34G>A)
c.735+150G>A (n.735+150G>A)
c.696G>A (p.Ser232=)
c.570G>A (p.Ser190=)
c.933G>A (p.Ser311=)
c.846G>A (p.Ser282=)
c.885+150G>A (n.885+150G>A)
c.849G>A (p.Ser283=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812946G>ACA3662601SLC17A1c.782C>T (p.Ser261Leu)
c.*33C>T (n.*33C>T)
c.735+149C>T (n.735+149C>T)
c.695C>T (p.Ser232Leu)
c.569C>T (p.Ser190Leu)
c.932C>T (p.Ser311Leu)
c.845C>T (p.Ser282Leu)
c.885+149C>T (n.885+149C>T)
c.848C>T (p.Ser283Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.25812946G>CCA363158127SLC17A1c.782C>G (p.Ser261Trp)
c.*33C>G (n.*33C>G)
c.735+149C>G (n.735+149C>G)
c.695C>G (p.Ser232Trp)
c.569C>G (p.Ser190Trp)
c.932C>G (p.Ser311Trp)
c.845C>G (p.Ser282Trp)
c.885+149C>G (n.885+149C>G)
c.848C>G (p.Ser283Trp)
6g.25812946G=CA1616765639SLC17A1c.782C= (p.Ser261=)
c.*33C= (n.*33C=)
c.735+149C= (n.735+149C=)
c.695C= (p.Ser232=)
c.569C= (p.Ser190=)
c.932C= (p.Ser311=)
c.845C= (p.Ser282=)
c.885+149C= (n.885+149C=)
c.848C= (p.Ser283=)
6g.25812946G>TCA3662602SLC17A1c.782C>A (p.Ser261Ter)
c.*33C>A (n.*33C>A)
c.735+149C>A (n.735+149C>A)
c.695C>A (p.Ser232Ter)
c.569C>A (p.Ser190Ter)
c.932C>A (p.Ser311Ter)
c.845C>A (p.Ser282Ter)
c.885+149C>A (n.885+149C>A)
c.848C>A (p.Ser283Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812947A=CA1616765640SLC17A1c.781T= (p.Ser261=)
c.*32T= (n.*32T=)
c.735+148T= (n.735+148T=)
c.694T= (p.Ser232=)
c.568T= (p.Ser190=)
c.931T= (p.Ser311=)
c.844T= (p.Ser282=)
c.885+148T= (n.885+148T=)
c.847T= (p.Ser283=)
6g.25812947A>CCA363158129SLC17A1c.781T>G (p.Ser261Ala)
c.*32T>G (n.*32T>G)
c.735+148T>G (n.735+148T>G)
c.694T>G (p.Ser232Ala)
c.568T>G (p.Ser190Ala)
c.931T>G (p.Ser311Ala)
c.844T>G (p.Ser282Ala)
c.885+148T>G (n.885+148T>G)
c.847T>G (p.Ser283Ala)
6g.25812947A>GCA363158132SLC17A1c.781T>C (p.Ser261Pro)
c.*32T>C (n.*32T>C)
c.735+148T>C (n.735+148T>C)
c.694T>C (p.Ser232Pro)
c.568T>C (p.Ser190Pro)
c.931T>C (p.Ser311Pro)
c.844T>C (p.Ser282Pro)
c.885+148T>C (n.885+148T>C)
c.847T>C (p.Ser283Pro)
6g.25812947A>TCA3662603SLC17A1c.781T>A (p.Ser261Thr)
c.*32T>A (n.*32T>A)
c.735+148T>A (n.735+148T>A)
c.694T>A (p.Ser232Thr)
c.568T>A (p.Ser190Thr)
c.931T>A (p.Ser311Thr)
c.844T>A (p.Ser282Thr)
c.885+148T>A (n.885+148T>A)
c.847T>A (p.Ser283Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812948C>ACA363158133SLC17A1c.780G>T (p.Lys260Asn)
c.*31G>T (n.*31G>T)
c.735+147G>T (n.735+147G>T)
c.693G>T (p.Lys231Asn)
c.567G>T (p.Lys189Asn)
c.930G>T (p.Lys310Asn)
c.843G>T (p.Lys281Asn)
c.885+147G>T (n.885+147G>T)
c.846G>T (p.Lys282Asn)
gnomAD v4
6g.25812948C>GCA363158135SLC17A1c.780G>C (p.Lys260Asn)
c.*31G>C (n.*31G>C)
c.735+147G>C (n.735+147G>C)
c.693G>C (p.Lys231Asn)
c.567G>C (p.Lys189Asn)
c.930G>C (p.Lys310Asn)
c.843G>C (p.Lys281Asn)
c.885+147G>C (n.885+147G>C)
c.846G>C (p.Lys282Asn)
dbSNP gnomAD v4
6g.25812948C>TCA448980383SLC17A1c.780G>A (p.Lys260=)
c.*31G>A (n.*31G>A)
c.735+147G>A (n.735+147G>A)
c.693G>A (p.Lys231=)
c.567G>A (p.Lys189=)
c.930G>A (p.Lys310=)
c.843G>A (p.Lys281=)
c.885+147G>A (n.885+147G>A)
c.846G>A (p.Lys282=)
6g.25812949T>ACA363158137SLC17A1c.779A>T (p.Lys260Met)
c.*30A>T (n.*30A>T)
c.735+146A>T (n.735+146A>T)
c.692A>T (p.Lys231Met)
c.566A>T (p.Lys189Met)
c.929A>T (p.Lys310Met)
c.842A>T (p.Lys281Met)
c.885+146A>T (n.885+146A>T)
c.845A>T (p.Lys282Met)
6g.25812949T>CCA363158138SLC17A1c.779A>G (p.Lys260Arg)
c.*30A>G (n.*30A>G)
c.735+146A>G (n.735+146A>G)
c.692A>G (p.Lys231Arg)
c.566A>G (p.Lys189Arg)
c.929A>G (p.Lys310Arg)
c.842A>G (p.Lys281Arg)
c.885+146A>G (n.885+146A>G)
c.845A>G (p.Lys282Arg)
6g.25812949T>GCA363158139SLC17A1c.779A>C (p.Lys260Thr)
c.*30A>C (n.*30A>C)
c.735+146A>C (n.735+146A>C)
c.692A>C (p.Lys231Thr)
c.566A>C (p.Lys189Thr)
c.929A>C (p.Lys310Thr)
c.842A>C (p.Lys281Thr)
c.885+146A>C (n.885+146A>C)
c.845A>C (p.Lys282Thr)
6g.25812950T>ACA363158140SLC17A1c.778A>T (p.Lys260Ter)
c.*29A>T (n.*29A>T)
c.735+145A>T (n.735+145A>T)
c.691A>T (p.Lys231Ter)
c.565A>T (p.Lys189Ter)
c.928A>T (p.Lys310Ter)
c.841A>T (p.Lys281Ter)
c.885+145A>T (n.885+145A>T)
c.844A>T (p.Lys282Ter)
6g.25812950T>CCA363158141SLC17A1c.778A>G (p.Lys260Glu)
c.*29A>G (n.*29A>G)
c.735+145A>G (n.735+145A>G)
c.691A>G (p.Lys231Glu)
c.565A>G (p.Lys189Glu)
c.928A>G (p.Lys310Glu)
c.841A>G (p.Lys281Glu)
c.885+145A>G (n.885+145A>G)
c.844A>G (p.Lys282Glu)
6g.25812950T>GCA363158143SLC17A1c.778A>C (p.Lys260Gln)
c.*29A>C (n.*29A>C)
c.735+145A>C (n.735+145A>C)
c.691A>C (p.Lys231Gln)
c.565A>C (p.Lys189Gln)
c.928A>C (p.Lys310Gln)
c.841A>C (p.Lys281Gln)
c.885+145A>C (n.885+145A>C)
c.844A>C (p.Lys282Gln)
6g.25812950_25812951delinsTACA1616765641SLC17A1c.777_778delinsTA (p.Leu259=)
c.*28_*29delinsTA (n.*28_*29delinsTA)
c.735+144_735+145delinsTA (n.735+144_735+145delinsTA)
c.690_691delinsTA (p.Leu230=)
c.564_565delinsTA (p.Leu188=)
c.927_928delinsTA (p.Leu309=)
c.840_841delinsTA (p.Leu280=)
c.885+144_885+145delinsTA (n.885+144_885+145delinsTA)
c.843_844delinsTA (p.Leu281=)
6g.25812951A>CCA448980385SLC17A1c.777T>G (p.Leu259=)
c.*28T>G (n.*28T>G)
c.735+144T>G (n.735+144T>G)
c.690T>G (p.Leu230=)
c.564T>G (p.Leu188=)
c.927T>G (p.Leu309=)
c.840T>G (p.Leu280=)
c.885+144T>G (n.885+144T>G)
c.843T>G (p.Leu281=)
COSMIC
6g.25812951A>GCA448980386SLC17A1c.777T>C (p.Leu259=)
c.*28T>C (n.*28T>C)
c.735+144T>C (n.735+144T>C)
c.690T>C (p.Leu230=)
c.564T>C (p.Leu188=)
c.927T>C (p.Leu309=)
c.840T>C (p.Leu280=)
c.885+144T>C (n.885+144T>C)
c.843T>C (p.Leu281=)
6g.25812951A>TCA448980387SLC17A1c.777T>A (p.Leu259=)
c.*28T>A (n.*28T>A)
c.735+144T>A (n.735+144T>A)
c.690T>A (p.Leu230=)
c.564T>A (p.Leu188=)
c.927T>A (p.Leu309=)
c.840T>A (p.Leu280=)
c.885+144T>A (n.885+144T>A)
c.843T>A (p.Leu281=)
6g.25812952delCA823427255SLC17A1c.777del (p.Lys260SerfsTer22)
c.*28del (n.*28del)
c.735+144del (n.735+144del)
c.690del (p.Lys231SerfsTer22)
c.564del (p.Lys189SerfsTer22)
c.927del (p.Lys310SerfsTer22)
c.840del (p.Lys281SerfsTer22)
c.885+144del (n.885+144del)
c.843del (p.Lys282SerfsTer22)
dbSNP
6g.25812952A=CA1616765642SLC17A1c.776T= (p.Leu259=)
c.*27T= (n.*27T=)
c.735+143T= (n.735+143T=)
c.689T= (p.Leu230=)
c.563T= (p.Leu188=)
c.926T= (p.Leu309=)
c.839T= (p.Leu280=)
c.885+143T= (n.885+143T=)
c.842T= (p.Leu281=)
6g.25812952A>CCA363158145SLC17A1c.776T>G (p.Leu259Arg)
c.*27T>G (n.*27T>G)
c.735+143T>G (n.735+143T>G)
c.689T>G (p.Leu230Arg)
c.563T>G (p.Leu188Arg)
c.926T>G (p.Leu309Arg)
c.839T>G (p.Leu280Arg)
c.885+143T>G (n.885+143T>G)
c.842T>G (p.Leu281Arg)
gnomAD v4
6g.25812952A>GCA3662604SLC17A1c.776T>C (p.Leu259Pro)
c.*27T>C (n.*27T>C)
c.735+143T>C (n.735+143T>C)
c.689T>C (p.Leu230Pro)
c.563T>C (p.Leu188Pro)
c.926T>C (p.Leu309Pro)
c.839T>C (p.Leu280Pro)
c.885+143T>C (n.885+143T>C)
c.842T>C (p.Leu281Pro)
dbSNP ExAC gnomAD v2
6g.25812952A>TCA363158147SLC17A1c.776T>A (p.Leu259His)
c.*27T>A (n.*27T>A)
c.735+143T>A (n.735+143T>A)
c.689T>A (p.Leu230His)
c.563T>A (p.Leu188His)
c.926T>A (p.Leu309His)
c.839T>A (p.Leu280His)
c.885+143T>A (n.885+143T>A)
c.842T>A (p.Leu281His)
6g.25812953G>ACA363158153SLC17A1c.775C>T (p.Leu259Phe)
c.*26C>T (n.*26C>T)
c.735+142C>T (n.735+142C>T)
c.688C>T (p.Leu230Phe)
c.562C>T (p.Leu188Phe)
c.925C>T (p.Leu309Phe)
c.838C>T (p.Leu280Phe)
c.885+142C>T (n.885+142C>T)
c.841C>T (p.Leu281Phe)
dbSNP gnomAD v4 COSMIC
6g.25812953G>CCA363158151SLC17A1c.775C>G (p.Leu259Val)
c.*26C>G (n.*26C>G)
c.735+142C>G (n.735+142C>G)
c.688C>G (p.Leu230Val)
c.562C>G (p.Leu188Val)
c.925C>G (p.Leu309Val)
c.838C>G (p.Leu280Val)
c.885+142C>G (n.885+142C>G)
c.841C>G (p.Leu281Val)
6g.25812953G=CA1616765643SLC17A1c.775C= (p.Leu259=)
c.*26C= (n.*26C=)
c.735+142C= (n.735+142C=)
c.688C= (p.Leu230=)
c.562C= (p.Leu188=)
c.925C= (p.Leu309=)
c.838C= (p.Leu280=)
c.885+142C= (n.885+142C=)
c.841C= (p.Leu281=)
6g.25812953G>TCA363158150SLC17A1c.775C>A (p.Leu259Ile)
c.*26C>A (n.*26C>A)
c.735+142C>A (n.735+142C>A)
c.688C>A (p.Leu230Ile)
c.562C>A (p.Leu188Ile)
c.925C>A (p.Leu309Ile)
c.838C>A (p.Leu280Ile)
c.885+142C>A (n.885+142C>A)
c.841C>A (p.Leu281Ile)
6g.25812954T>ACA448980388SLC17A1c.774A>T (p.Ile258=)
c.*25A>T (n.*25A>T)
c.735+141A>T (n.735+141A>T)
c.687A>T (p.Ile229=)
c.561A>T (p.Ile187=)
c.924A>T (p.Ile308=)
c.837A>T (p.Ile279=)
c.885+141A>T (n.885+141A>T)
c.840A>T (p.Ile280=)
6g.25812954T>CCA363158154SLC17A1c.774A>G (p.Ile258Met)
c.*25A>G (n.*25A>G)
c.735+141A>G (n.735+141A>G)
c.687A>G (p.Ile229Met)
c.561A>G (p.Ile187Met)
c.924A>G (p.Ile308Met)
c.837A>G (p.Ile279Met)
c.885+141A>G (n.885+141A>G)
c.840A>G (p.Ile280Met)
dbSNP
6g.25812954T>GCA448980389SLC17A1c.774A>C (p.Ile258=)
c.*25A>C (n.*25A>C)
c.735+141A>C (n.735+141A>C)
c.687A>C (p.Ile229=)
c.561A>C (p.Ile187=)
c.924A>C (p.Ile308=)
c.837A>C (p.Ile279=)
c.885+141A>C (n.885+141A>C)
c.840A>C (p.Ile280=)
6g.25812955A>CCA363158157SLC17A1c.773T>G (p.Ile258Arg)
c.*24T>G (n.*24T>G)
c.735+140T>G (n.735+140T>G)
c.686T>G (p.Ile229Arg)
c.560T>G (p.Ile187Arg)
c.923T>G (p.Ile308Arg)
c.836T>G (p.Ile279Arg)
c.885+140T>G (n.885+140T>G)
c.839T>G (p.Ile280Arg)
6g.25812955A>GCA363158160SLC17A1c.773T>C (p.Ile258Thr)
c.*24T>C (n.*24T>C)
c.735+140T>C (n.735+140T>C)
c.686T>C (p.Ile229Thr)
c.560T>C (p.Ile187Thr)
c.923T>C (p.Ile308Thr)
c.836T>C (p.Ile279Thr)
c.885+140T>C (n.885+140T>C)
c.839T>C (p.Ile280Thr)
6g.25812955A>TCA363158161SLC17A1c.773T>A (p.Ile258Lys)
c.*24T>A (n.*24T>A)
c.735+140T>A (n.735+140T>A)
c.686T>A (p.Ile229Lys)
c.560T>A (p.Ile187Lys)
c.923T>A (p.Ile308Lys)
c.836T>A (p.Ile279Lys)
c.885+140T>A (n.885+140T>A)
c.839T>A (p.Ile280Lys)
6g.25812956T>ACA363158164SLC17A1c.772A>T (p.Ile258Leu)
c.*23A>T (n.*23A>T)
c.735+139A>T (n.735+139A>T)
c.685A>T (p.Ile229Leu)
c.559A>T (p.Ile187Leu)
c.922A>T (p.Ile308Leu)
c.835A>T (p.Ile279Leu)
c.885+139A>T (n.885+139A>T)
c.838A>T (p.Ile280Leu)
6g.25812956T>CCA363158166SLC17A1c.772A>G (p.Ile258Val)
c.*23A>G (n.*23A>G)
c.735+139A>G (n.735+139A>G)
c.685A>G (p.Ile229Val)
c.559A>G (p.Ile187Val)
c.922A>G (p.Ile308Val)
c.835A>G (p.Ile279Val)
c.885+139A>G (n.885+139A>G)
c.838A>G (p.Ile280Val)
6g.25812956T>GCA363158167SLC17A1c.772A>C (p.Ile258Leu)
c.*23A>C (n.*23A>C)
c.735+139A>C (n.735+139A>C)
c.685A>C (p.Ile229Leu)
c.559A>C (p.Ile187Leu)
c.922A>C (p.Ile308Leu)
c.835A>C (p.Ile279Leu)
c.885+139A>C (n.885+139A>C)
c.838A>C (p.Ile280Leu)
6g.25812957A>CCA448980394SLC17A1c.771T>G (p.Ala257=)
c.*22T>G (n.*22T>G)
c.735+138T>G (n.735+138T>G)
c.684T>G (p.Ala228=)
c.558T>G (p.Ala186=)
c.921T>G (p.Ala307=)
c.834T>G (p.Ala278=)
c.885+138T>G (n.885+138T>G)
c.837T>G (p.Ala279=)
6g.25812957A>GCA448980395SLC17A1c.771T>C (p.Ala257=)
c.*22T>C (n.*22T>C)
c.735+138T>C (n.735+138T>C)
c.684T>C (p.Ala228=)
c.558T>C (p.Ala186=)
c.921T>C (p.Ala307=)
c.834T>C (p.Ala278=)
c.885+138T>C (n.885+138T>C)
c.837T>C (p.Ala279=)
6g.25812957A>TCA448980396SLC17A1c.771T>A (p.Ala257=)
c.*22T>A (n.*22T>A)
c.735+138T>A (n.735+138T>A)
c.684T>A (p.Ala228=)
c.558T>A (p.Ala186=)
c.921T>A (p.Ala307=)
c.834T>A (p.Ala278=)
c.885+138T>A (n.885+138T>A)
c.837T>A (p.Ala279=)
6g.25812958G>ACA363158169SLC17A1c.770C>T (p.Ala257Val)
c.*21C>T (n.*21C>T)
c.735+137C>T (n.735+137C>T)
c.683C>T (p.Ala228Val)
c.557C>T (p.Ala186Val)
c.920C>T (p.Ala307Val)
c.833C>T (p.Ala278Val)
c.885+137C>T (n.885+137C>T)
c.836C>T (p.Ala279Val)
6g.25812958G>CCA363158171SLC17A1c.770C>G (p.Ala257Gly)
c.*21C>G (n.*21C>G)
c.735+137C>G (n.735+137C>G)
c.683C>G (p.Ala228Gly)
c.557C>G (p.Ala186Gly)
c.920C>G (p.Ala307Gly)
c.833C>G (p.Ala278Gly)
c.885+137C>G (n.885+137C>G)
c.836C>G (p.Ala279Gly)
6g.25812958G>TCA363158173SLC17A1c.770C>A (p.Ala257Asp)
c.*21C>A (n.*21C>A)
c.735+137C>A (n.735+137C>A)
c.683C>A (p.Ala228Asp)
c.557C>A (p.Ala186Asp)
c.920C>A (p.Ala307Asp)
c.833C>A (p.Ala278Asp)
c.885+137C>A (n.885+137C>A)
c.836C>A (p.Ala279Asp)
6g.25812959C>ACA363158174SLC17A1c.769G>T (p.Ala257Ser)
c.*20G>T (n.*20G>T)
c.735+136G>T (n.735+136G>T)
c.682G>T (p.Ala228Ser)
c.556G>T (p.Ala186Ser)
c.919G>T (p.Ala307Ser)
c.832G>T (p.Ala278Ser)
c.885+136G>T (n.885+136G>T)
c.835G>T (p.Ala279Ser)
6g.25812959C>GCA363158176SLC17A1c.769G>C (p.Ala257Pro)
c.*20G>C (n.*20G>C)
c.735+136G>C (n.735+136G>C)
c.682G>C (p.Ala228Pro)
c.556G>C (p.Ala186Pro)
c.919G>C (p.Ala307Pro)
c.832G>C (p.Ala278Pro)
c.885+136G>C (n.885+136G>C)
c.835G>C (p.Ala279Pro)
6g.25812959C>TCA363158177SLC17A1c.769G>A (p.Ala257Thr)
c.*20G>A (n.*20G>A)
c.735+136G>A (n.735+136G>A)
c.682G>A (p.Ala228Thr)
c.556G>A (p.Ala186Thr)
c.919G>A (p.Ala307Thr)
c.832G>A (p.Ala278Thr)
c.885+136G>A (n.885+136G>A)
c.835G>A (p.Ala279Thr)
6g.25812960C>ACA363158178SLC17A1c.768G>T (p.Lys256Asn)
c.*19G>T (n.*19G>T)
c.735+135G>T (n.735+135G>T)
c.681G>T (p.Lys227Asn)
c.555G>T (p.Lys185Asn)
c.918G>T (p.Lys306Asn)
c.831G>T (p.Lys277Asn)
c.885+135G>T (n.885+135G>T)
c.834G>T (p.Lys278Asn)
6g.25812960C>GCA363158180SLC17A1c.768G>C (p.Lys256Asn)
c.*19G>C (n.*19G>C)
c.735+135G>C (n.735+135G>C)
c.681G>C (p.Lys227Asn)
c.555G>C (p.Lys185Asn)
c.918G>C (p.Lys306Asn)
c.831G>C (p.Lys277Asn)
c.885+135G>C (n.885+135G>C)
c.834G>C (p.Lys278Asn)
6g.25812960C>TCA448980397SLC17A1c.768G>A (p.Lys256=)
c.*19G>A (n.*19G>A)
c.735+135G>A (n.735+135G>A)
c.681G>A (p.Lys227=)
c.555G>A (p.Lys185=)
c.918G>A (p.Lys306=)
c.831G>A (p.Lys277=)
c.885+135G>A (n.885+135G>A)
c.834G>A (p.Lys278=)
6g.25812961T>ACA363158181SLC17A1c.767A>T (p.Lys256Met)
c.*18A>T (n.*18A>T)
c.735+134A>T (n.735+134A>T)
c.680A>T (p.Lys227Met)
c.554A>T (p.Lys185Met)
c.917A>T (p.Lys306Met)
c.830A>T (p.Lys277Met)
c.885+134A>T (n.885+134A>T)
c.833A>T (p.Lys278Met)
6g.25812961T>CCA363158183SLC17A1c.767A>G (p.Lys256Arg)
c.*18A>G (n.*18A>G)
c.735+134A>G (n.735+134A>G)
c.680A>G (p.Lys227Arg)
c.554A>G (p.Lys185Arg)
c.917A>G (p.Lys306Arg)
c.830A>G (p.Lys277Arg)
c.885+134A>G (n.885+134A>G)
c.833A>G (p.Lys278Arg)
gnomAD v4
6g.25812961T>GCA363158185SLC17A1c.767A>C (p.Lys256Thr)
c.*18A>C (n.*18A>C)
c.735+134A>C (n.735+134A>C)
c.680A>C (p.Lys227Thr)
c.554A>C (p.Lys185Thr)
c.917A>C (p.Lys306Thr)
c.830A>C (p.Lys277Thr)
c.885+134A>C (n.885+134A>C)
c.833A>C (p.Lys278Thr)
6g.25812962T>ACA363158186SLC17A1c.766A>T (p.Lys256Ter)
c.*17A>T (n.*17A>T)
c.735+133A>T (n.735+133A>T)
c.679A>T (p.Lys227Ter)
c.553A>T (p.Lys185Ter)
c.916A>T (p.Lys306Ter)
c.829A>T (p.Lys277Ter)
c.885+133A>T (n.885+133A>T)
c.832A>T (p.Lys278Ter)
6g.25812962T>CCA363158188SLC17A1c.766A>G (p.Lys256Glu)
c.*17A>G (n.*17A>G)
c.735+133A>G (n.735+133A>G)
c.679A>G (p.Lys227Glu)
c.553A>G (p.Lys185Glu)
c.916A>G (p.Lys306Glu)
c.829A>G (p.Lys277Glu)
c.885+133A>G (n.885+133A>G)
c.832A>G (p.Lys278Glu)
dbSNP
6g.25812962T>GCA363158190SLC17A1c.766A>C (p.Lys256Gln)
c.*17A>C (n.*17A>C)
c.735+133A>C (n.735+133A>C)
c.679A>C (p.Lys227Gln)
c.553A>C (p.Lys185Gln)
c.916A>C (p.Lys306Gln)
c.829A>C (p.Lys277Gln)
c.885+133A>C (n.885+133A>C)
c.832A>C (p.Lys278Gln)
6g.25812962T=CA1616765644SLC17A1c.766A= (p.Lys256=)
c.*17A= (n.*17A=)
c.735+133A= (n.735+133A=)
c.679A= (p.Lys227=)
c.553A= (p.Lys185=)
c.916A= (p.Lys306=)
c.829A= (p.Lys277=)
c.885+133A= (n.885+133A=)
c.832A= (p.Lys278=)
6g.25812963G>ACA448980402SLC17A1c.765C>T (p.Ile255=)
c.*16C>T (n.*16C>T)
c.735+132C>T (n.735+132C>T)
c.678C>T (p.Ile226=)
c.552C>T (p.Ile184=)
c.915C>T (p.Ile305=)
c.828C>T (p.Ile276=)
c.885+132C>T (n.885+132C>T)
c.831C>T (p.Ile277=)
6g.25812963G>CCA363158191SLC17A1c.765C>G (p.Ile255Met)
c.*16C>G (n.*16C>G)
c.735+132C>G (n.735+132C>G)
c.678C>G (p.Ile226Met)
c.552C>G (p.Ile184Met)
c.915C>G (p.Ile305Met)
c.828C>G (p.Ile276Met)
c.885+132C>G (n.885+132C>G)
c.831C>G (p.Ile277Met)
6g.25812963G>TCA448980401SLC17A1c.765C>A (p.Ile255=)
c.*16C>A (n.*16C>A)
c.735+132C>A (n.735+132C>A)
c.678C>A (p.Ile226=)
c.552C>A (p.Ile184=)
c.915C>A (p.Ile305=)
c.828C>A (p.Ile276=)
c.885+132C>A (n.885+132C>A)
c.831C>A (p.Ile277=)
gnomAD v4
6g.25812964A=CA1616765645SLC17A1c.764T= (p.Ile255=)
c.*15T= (n.*15T=)
c.735+131T= (n.735+131T=)
c.677T= (p.Ile226=)
c.551T= (p.Ile184=)
c.914T= (p.Ile305=)
c.827T= (p.Ile276=)
c.885+131T= (n.885+131T=)
c.830T= (p.Ile277=)
6g.25812964A>CCA363158192SLC17A1c.764T>G (p.Ile255Ser)
c.*15T>G (n.*15T>G)
c.735+131T>G (n.735+131T>G)
c.677T>G (p.Ile226Ser)
c.551T>G (p.Ile184Ser)
c.914T>G (p.Ile305Ser)
c.827T>G (p.Ile276Ser)
c.885+131T>G (n.885+131T>G)
c.830T>G (p.Ile277Ser)
6g.25812964A>GCA3662605SLC17A1c.764T>C (p.Ile255Thr)
c.*15T>C (n.*15T>C)
c.735+131T>C (n.735+131T>C)
c.677T>C (p.Ile226Thr)
c.551T>C (p.Ile184Thr)
c.914T>C (p.Ile305Thr)
c.827T>C (p.Ile276Thr)
c.885+131T>C (n.885+131T>C)
c.830T>C (p.Ile277Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812964A>TCA363158194SLC17A1c.764T>A (p.Ile255Asn)
c.*15T>A (n.*15T>A)
c.735+131T>A (n.735+131T>A)
c.677T>A (p.Ile226Asn)
c.551T>A (p.Ile184Asn)
c.914T>A (p.Ile305Asn)
c.827T>A (p.Ile276Asn)
c.885+131T>A (n.885+131T>A)
c.830T>A (p.Ile277Asn)
gnomAD v4

Number of alleles fetched