Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.25918440delCA2677596631SLC17A2c.649+48del (n.649+48del)
c.580+48del (n.580+48del)
gnomAD v4
6g.25918440G>ACA2677596633SLC17A2c.649+47C>T (n.649+47C>T)
c.580+47C>T (n.580+47C>T)
gnomAD v4
6g.25918440G>TCA2677596634SLC17A2c.649+47C>A (n.649+47C>A)
c.580+47C>A (n.580+47C>A)
gnomAD v4
6g.25918442T>CCA823427412SLC17A2c.649+45A>G (n.649+45A>G)
c.580+45A>G (n.580+45A>G)
dbSNP gnomAD v3 gnomAD v4
6g.25918442T=CA1616810430SLC17A2c.649+45A= (n.649+45A=)
c.580+45A= (n.580+45A=)
6g.25918443G>ACA565959705SLC17A2c.649+44C>T (n.649+44C>T)
c.580+44C>T (n.580+44C>T)
dbSNP gnomAD v2
6g.25918443G=CA1616810431SLC17A2c.649+44C= (n.649+44C=)
c.580+44C= (n.580+44C=)
6g.25918443G>TCA2677596635SLC17A2c.649+44C>A (n.649+44C>A)
c.580+44C>A (n.580+44C>A)
gnomAD v4
6g.25918444C=CA1616810432SLC17A2c.649+43G= (n.649+43G=)
c.580+43G= (n.580+43G=)
6g.25918444C>TCA1087052648SLC17A2c.649+43G>A (n.649+43G>A)
c.580+43G>A (n.580+43G>A)
dbSNP gnomAD v3 gnomAD v4
6g.25918445T>CCA3663520SLC17A2c.649+42A>G (n.649+42A>G)
c.580+42A>G (n.580+42A>G)
dbSNP ExAC gnomAD v3 gnomAD v4
6g.25918445T=CA1616810433SLC17A2c.649+42A= (n.649+42A=)
c.580+42A= (n.580+42A=)
6g.25918446delCA2770365135SLC17A2c.649+41del (n.649+41del)
c.580+41del (n.580+41del)
6g.25918446C>ACA2677596636SLC17A2c.649+41G>T (n.649+41G>T)
c.580+41G>T (n.580+41G>T)
gnomAD v4
6g.25918447A>GCA2677596637SLC17A2c.649+40T>C (n.649+40T>C)
c.580+40T>C (n.580+40T>C)
gnomAD v4
6g.25918448G>TCA2677596638SLC17A2c.649+39C>A (n.649+39C>A)
c.580+39C>A (n.580+39C>A)
gnomAD v4
6g.25918449G>TCA2677596639SLC17A2c.649+38C>A (n.649+38C>A)
c.580+38C>A (n.580+38C>A)
gnomAD v4
6g.25918450A=CA1616810434SLC17A2c.649+37T= (n.649+37T=)
c.580+37T= (n.580+37T=)
6g.25918450A>CCA823427415SLC17A2c.649+37T>G (n.649+37T>G)
c.580+37T>G (n.580+37T>G)
dbSNP gnomAD v3 gnomAD v4
6g.25918451A=CA1616810435SLC17A2c.649+36T= (n.649+36T=)
c.580+36T= (n.580+36T=)
6g.25918451A>CCA565959706SLC17A2c.649+36T>G (n.649+36T>G)
c.580+36T>G (n.580+36T>G)
dbSNP gnomAD v2 gnomAD v4
6g.25918451A>GCA2677596640SLC17A2c.649+36T>C (n.649+36T>C)
c.580+36T>C (n.580+36T>C)
gnomAD v4
6g.25918452A=CA1616810436SLC17A2c.649+35T= (n.649+35T=)
c.580+35T= (n.580+35T=)
6g.25918452A>GCA136234805SLC17A2c.649+35T>C (n.649+35T>C)
c.580+35T>C (n.580+35T>C)
dbSNP gnomAD v2 gnomAD v4
6g.25918453T>CCA2677596641SLC17A2c.649+34A>G (n.649+34A>G)
c.580+34A>G (n.580+34A>G)
gnomAD v4
6g.25918454G>ACA2677596642SLC17A2c.649+33C>T (n.649+33C>T)
c.580+33C>T (n.580+33C>T)
gnomAD v4
6g.25918454G>TCA2677596643SLC17A2c.649+33C>A (n.649+33C>A)
c.580+33C>A (n.580+33C>A)
gnomAD v4
6g.25918455G>ACA565959708SLC17A2c.649+32C>T (n.649+32C>T)
c.580+32C>T (n.580+32C>T)
dbSNP gnomAD v2 gnomAD v4
6g.25918455G>CCA823427419SLC17A2c.649+32C>G (n.649+32C>G)
c.580+32C>G (n.580+32C>G)
dbSNP
6g.25918455G=CA1616810437SLC17A2c.649+32C= (n.649+32C=)
c.580+32C= (n.580+32C=)
6g.25918455G>TCA2677596644SLC17A2c.649+32C>A (n.649+32C>A)
c.580+32C>A (n.580+32C>A)
gnomAD v4
6g.25918456A=CA1616810438SLC17A2c.649+31T= (n.649+31T=)
c.580+31T= (n.580+31T=)
6g.25918456A>GCA823427421SLC17A2c.649+31T>C (n.649+31T>C)
c.580+31T>C (n.580+31T>C)
dbSNP gnomAD v3 gnomAD v4
6g.25918456A>TCA2677596645SLC17A2c.649+31T>A (n.649+31T>A)
c.580+31T>A (n.580+31T>A)
gnomAD v4
6g.25918457G>ACA3663521SLC17A2c.649+30C>T (n.649+30C>T)
c.580+30C>T (n.580+30C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25918457G=CA1616810439SLC17A2c.649+30C= (n.649+30C=)
c.580+30C= (n.580+30C=)
6g.25918457G>TCA2677596646SLC17A2c.649+30C>A (n.649+30C>A)
c.580+30C>A (n.580+30C>A)
gnomAD v4
6g.25918458G>ACA2677596647SLC17A2c.649+29C>T (n.649+29C>T)
c.580+29C>T (n.580+29C>T)
gnomAD v4
6g.25918458G>TCA2677596648SLC17A2c.649+29C>A (n.649+29C>A)
c.580+29C>A (n.580+29C>A)
gnomAD v4
6g.25918459C>ACA650820930SLC17A2c.649+28G>T (n.649+28G>T)
c.580+28G>T (n.580+28G>T)
COSMIC
6g.25918459C=CA1616810440SLC17A2c.649+28G= (n.649+28G=)
c.580+28G= (n.580+28G=)
6g.25918459C>TCA136234808SLC17A2c.649+28G>A (n.649+28G>A)
c.580+28G>A (n.580+28G>A)
dbSNP gnomAD v3 gnomAD v4
6g.25918460G>ACA3663522SLC17A2c.649+27C>T (n.649+27C>T)
c.580+27C>T (n.580+27C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25918460G>CCA565959710SLC17A2c.649+27C>G (n.649+27C>G)
c.580+27C>G (n.580+27C>G)
dbSNP gnomAD v2 gnomAD v4
6g.25918460G=CA1616810441SLC17A2c.649+27C= (n.649+27C=)
c.580+27C= (n.580+27C=)
6g.25918460G>TCA2581550153SLC17A2c.649+27C>A (n.649+27C>A)
c.580+27C>A (n.580+27C>A)
gnomAD v4
6g.25918461T>ACA2677596650SLC17A2c.649+26A>T (n.649+26A>T)
c.580+26A>T (n.580+26A>T)
gnomAD v4
6g.25918461T>CCA1616810443SLC17A2c.649+26A>G (n.649+26A>G)
c.580+26A>G (n.580+26A>G)
dbSNP gnomAD v4
6g.25918461T>GCA2677596651SLC17A2c.649+26A>C (n.649+26A>C)
c.580+26A>C (n.580+26A>C)
gnomAD v4
6g.25918461T=CA1616810442SLC17A2c.649+26A= (n.649+26A=)
c.580+26A= (n.580+26A=)
6g.25918462delCA2677596649SLC17A2c.649+26del (n.649+26del)
c.580+26del (n.580+26del)
gnomAD v4
6g.25918462T>CCA2677596652SLC17A2c.649+25A>G (n.649+25A>G)
c.580+25A>G (n.580+25A>G)
gnomAD v4
6g.25918462T>GCA2677596653SLC17A2c.649+25A>C (n.649+25A>C)
c.580+25A>C (n.580+25A>C)
gnomAD v4
6g.25918463A>GCA2578548289SLC17A2c.649+24T>C (n.649+24T>C)
c.580+24T>C (n.580+24T>C)
dbSNP gnomAD v4
6g.25918463A>TCA2677596654SLC17A2c.649+24T>A (n.649+24T>A)
c.580+24T>A (n.580+24T>A)
gnomAD v4
6g.25918464G>CCA3663523SLC17A2c.649+23C>G (n.649+23C>G)
c.580+23C>G (n.580+23C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25918464G=CA1616810444SLC17A2c.649+23C= (n.649+23C=)
c.580+23C= (n.580+23C=)
6g.25918464G>TCA2677596655SLC17A2c.649+23C>A (n.649+23C>A)
c.580+23C>A (n.580+23C>A)
gnomAD v4
6g.25918465G>ACA2677596656SLC17A2c.649+22C>T (n.649+22C>T)
c.580+22C>T (n.580+22C>T)
gnomAD v4
6g.25918465G>TCA2677596657SLC17A2c.649+22C>A (n.649+22C>A)
c.580+22C>A (n.580+22C>A)
gnomAD v4
6g.25918466A>GCA2677596658SLC17A2c.649+21T>C (n.649+21T>C)
c.580+21T>C (n.580+21T>C)
gnomAD v4
6g.25918467T>CCA2677596659SLC17A2c.649+20A>G (n.649+20A>G)
c.580+20A>G (n.580+20A>G)
gnomAD v4
6g.25918468T>GCA2578548290SLC17A2c.649+19A>C (n.649+19A>C)
c.580+19A>C (n.580+19A>C)
gnomAD v4
6g.25918470A>GCA2677596660SLC17A2c.649+17T>C (n.649+17T>C)
c.580+17T>C (n.580+17T>C)
gnomAD v4
6g.25918470A>TCA2578548291SLC17A2c.649+17T>A (n.649+17T>A)
c.580+17T>A (n.580+17T>A)
gnomAD v4
6g.25918471A>CCA2578548292SLC17A2c.649+16T>G (n.649+16T>G)
c.580+16T>G (n.580+16T>G)
6g.25918471A>GCA2677596661SLC17A2c.649+16T>C (n.649+16T>C)
c.580+16T>C (n.580+16T>C)
gnomAD v4
6g.25918472G>TCA2677596662SLC17A2c.649+15C>A (n.649+15C>A)
c.580+15C>A (n.580+15C>A)
gnomAD v4
6g.25918474G>CCA3663524SLC17A2c.649+13C>G (n.649+13C>G)
c.580+13C>G (n.580+13C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25918474G=CA1616810445SLC17A2c.649+13C= (n.649+13C=)
c.580+13C= (n.580+13C=)
6g.25918474G>TCA2677596663SLC17A2c.649+13C>A (n.649+13C>A)
c.580+13C>A (n.580+13C>A)
gnomAD v4
6g.25918477delCA2677596664SLC17A2c.649+12del (n.649+12del)
c.580+12del (n.580+12del)
gnomAD v4
6g.25918476A>CCA2740729563SLC17A2c.649+11T>G (n.649+11T>G)
c.580+11T>G (n.580+11T>G)
6g.25918476A>GCA2677596665SLC17A2c.649+11T>C (n.649+11T>C)
c.580+11T>C (n.580+11T>C)
gnomAD v4
6g.25918477A=CA1616810446SLC17A2c.649+10T= (n.649+10T=)
c.580+10T= (n.580+10T=)
6g.25918477A>GCA1087052654SLC17A2c.649+10T>C (n.649+10T>C)
c.580+10T>C (n.580+10T>C)
dbSNP gnomAD v3 gnomAD v4
6g.25918478G>TCA2677596666SLC17A2c.649+9C>A (n.649+9C>A)
c.580+9C>A (n.580+9C>A)
gnomAD v4
6g.25918480G>ACA1616810448SLC17A2c.649+7C>T (n.649+7C>T)
c.580+7C>T (n.580+7C>T)
dbSNP
6g.25918480G>CCA2677596667SLC17A2c.649+7C>G (n.649+7C>G)
c.580+7C>G (n.580+7C>G)
gnomAD v4
6g.25918480G=CA1616810447SLC17A2c.649+7C= (n.649+7C=)
c.580+7C= (n.580+7C=)
6g.25918480G>TCA2677596668SLC17A2c.649+7C>A (n.649+7C>A)
c.580+7C>A (n.580+7C>A)
gnomAD v4
6g.25918481A>GCA2677596669SLC17A2c.649+6T>C (n.649+6T>C)
c.580+6T>C (n.580+6T>C)
gnomAD v4
6g.25918482C>TCA2677596670SLC17A2c.649+5G>A (n.649+5G>A)
c.580+5G>A (n.580+5G>A)
gnomAD v4
6g.25918484C>ACA565959713SLC17A2c.649+3G>T (n.649+3G>T)
c.580+3G>T (n.580+3G>T)
dbSNP gnomAD v2 gnomAD v4
6g.25918484C=CA1616810449SLC17A2c.649+3G= (n.649+3G=)
c.580+3G= (n.580+3G=)
6g.25918484C>TCA2677596671SLC17A2c.649+3G>A (n.649+3G>A)
c.580+3G>A (n.580+3G>A)
gnomAD v4
6g.25918485A>CCA363168747SLC17A2c.649+2T>G (n.649+2T>G)
c.580+2T>G (n.580+2T>G)
6g.25918485A>GCA363168750SLC17A2c.649+2T>C (n.649+2T>C)
c.580+2T>C (n.580+2T>C)
6g.25918485A>TCA363168753SLC17A2c.649+2T>A (n.649+2T>A)
c.580+2T>A (n.580+2T>A)
6g.25918486C>ACA363168756SLC17A2c.649+1G>T (n.649+1G>T)
c.580+1G>T (n.580+1G>T)
6g.25918486C=CA1616810450SLC17A2c.649+1G= (n.649+1G=)
c.580+1G= (n.580+1G=)
6g.25918486C>GCA363168758SLC17A2c.649+1G>C (n.649+1G>C)
c.580+1G>C (n.580+1G>C)
6g.25918486C>TCA3663525SLC17A2c.649+1G>A (n.649+1G>A)
c.580+1G>A (n.580+1G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25918487C>ACA363168765SLC17A2c.649G>T (p.Gly217Cys)
c.580G>T (p.Gly194Cys)
6g.25918487C=CA1616810451SLC17A2c.649G= (p.Gly217=)
c.580G= (p.Gly194=)
6g.25918487C>GCA363168764SLC17A2c.649G>C (p.Gly217Arg)
c.580G>C (p.Gly194Arg)
6g.25918487C>TCA363168762SLC17A2c.649G>A (p.Gly217Ser)
c.580G>A (p.Gly194Ser)
dbSNP gnomAD v4 COSMIC COSMIC
6g.25918488A>CCA363168769SLC17A2c.648T>G (p.Phe216Leu)
c.579T>G (p.Phe193Leu)
gnomAD v4
6g.25918488A>GCA448981138SLC17A2c.648T>C (p.Phe216=)
c.579T>C (p.Phe193=)
gnomAD v4
6g.25918488A>TCA363168770SLC17A2c.648T>A (p.Phe216Leu)
c.579T>A (p.Phe193Leu)
6g.25918489A>CCA363168771SLC17A2c.647T>G (p.Phe216Cys)
c.578T>G (p.Phe193Cys)
6g.25918489A>GCA363168772SLC17A2c.647T>C (p.Phe216Ser)
c.578T>C (p.Phe193Ser)
6g.25918489A>TCA363168773SLC17A2c.647T>A (p.Phe216Tyr)
c.578T>A (p.Phe193Tyr)
6g.25918490A>CCA363168774SLC17A2c.646T>G (p.Phe216Val)
c.577T>G (p.Phe193Val)
6g.25918490A>GCA363168775SLC17A2c.646T>C (p.Phe216Leu)
c.577T>C (p.Phe193Leu)
COSMIC COSMIC
6g.25918490A>TCA363168776SLC17A2c.646T>A (p.Phe216Ile)
c.577T>A (p.Phe193Ile)
gnomAD v4
6g.25918491delCA2677596672SLC17A2c.645del (p.Phe216LeufsTer15)
c.576del (p.Phe193LeufsTer15)
gnomAD v4
6g.25918491G>ACA448981141SLC17A2c.645C>T (p.Ile215=)
c.576C>T (p.Ile192=)
COSMIC COSMIC
6g.25918491G>CCA363168777SLC17A2c.645C>G (p.Ile215Met)
c.576C>G (p.Ile192Met)
gnomAD v4
6g.25918491G=CA1616810452SLC17A2c.645C= (p.Ile215=)
c.576C= (p.Ile192=)
6g.25918491G>TCA448981143SLC17A2c.645C>A (p.Ile215=)
c.576C>A (p.Ile192=)
dbSNP gnomAD v2 gnomAD v4
6g.25918492A>CCA363168778SLC17A2c.644T>G (p.Ile215Ser)
c.575T>G (p.Ile192Ser)
6g.25918492A>GCA363168779SLC17A2c.644T>C (p.Ile215Thr)
c.575T>C (p.Ile192Thr)
6g.25918492A>TCA363168780SLC17A2c.644T>A (p.Ile215Asn)
c.575T>A (p.Ile192Asn)
6g.25918493T>ACA363168782SLC17A2c.643A>T (p.Ile215Phe)
c.574A>T (p.Ile192Phe)
6g.25918493T>CCA3663526SLC17A2c.643A>G (p.Ile215Val)
c.574A>G (p.Ile192Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25918493T>GCA363168781SLC17A2c.643A>C (p.Ile215Leu)
c.574A>C (p.Ile192Leu)
6g.25918493T=CA1616810453SLC17A2c.643A= (p.Ile215=)
c.574A= (p.Ile192=)
6g.25918494G>ACA448981146SLC17A2c.642C>T (p.Tyr214=)
c.573C>T (p.Tyr191=)
6g.25918494G>CCA363168783SLC17A2c.642C>G (p.Tyr214Ter)
c.573C>G (p.Tyr191Ter)
6g.25918494G>TCA363168786SLC17A2c.642C>A (p.Tyr214Ter)
c.573C>A (p.Tyr191Ter)
gnomAD v4
6g.25918495T>ACA363168789SLC17A2c.641A>T (p.Tyr214Phe)
c.572A>T (p.Tyr191Phe)
6g.25918495T>CCA363168795SLC17A2c.641A>G (p.Tyr214Cys)
c.572A>G (p.Tyr191Cys)
dbSNP gnomAD v3 gnomAD v4
6g.25918495T>GCA363168791SLC17A2c.641A>C (p.Tyr214Ser)
c.572A>C (p.Tyr191Ser)
gnomAD v4
6g.25918495T=CA1616810454SLC17A2c.641A= (p.Tyr214=)
c.572A= (p.Tyr191=)
6g.25918496A>CCA363168800SLC17A2c.640T>G (p.Tyr214Asp)
c.571T>G (p.Tyr191Asp)
6g.25918496A>GCA363168804SLC17A2c.640T>C (p.Tyr214His)
c.571T>C (p.Tyr191His)
6g.25918496A>TCA363168801SLC17A2c.640T>A (p.Tyr214Asn)
c.571T>A (p.Tyr191Asn)
6g.25918497G>ACA448981148SLC17A2c.639C>T (p.Phe213=)
c.570C>T (p.Phe190=)
6g.25918497G>CCA363168807SLC17A2c.639C>G (p.Phe213Leu)
c.570C>G (p.Phe190Leu)
6g.25918497G>TCA363168810SLC17A2c.639C>A (p.Phe213Leu)
c.570C>A (p.Phe190Leu)
6g.25918498A>CCA363168815SLC17A2c.638T>G (p.Phe213Cys)
c.569T>G (p.Phe190Cys)
6g.25918498A>GCA363168823SLC17A2c.638T>C (p.Phe213Ser)
c.569T>C (p.Phe190Ser)
6g.25918498A>TCA363168826SLC17A2c.638T>A (p.Phe213Tyr)
c.569T>A (p.Phe190Tyr)
6g.25918499delCA2677596673SLC17A2c.638del (p.Phe213SerfsTer18)
c.569del (p.Phe190SerfsTer18)
gnomAD v4
6g.25918499A>CCA363168829SLC17A2c.637T>G (p.Phe213Val)
c.568T>G (p.Phe190Val)
6g.25918499A>GCA363168832SLC17A2c.637T>C (p.Phe213Leu)
c.568T>C (p.Phe190Leu)
6g.25918499A>TCA363168833SLC17A2c.637T>A (p.Phe213Ile)
c.568T>A (p.Phe190Ile)
6g.25918500G>ACA448981154SLC17A2c.636C>T (p.Ile212=)
c.567C>T (p.Ile189=)
COSMIC COSMIC
6g.25918500G>CCA363168834SLC17A2c.636C>G (p.Ile212Met)
c.567C>G (p.Ile189Met)
6g.25918500G>TCA448981152SLC17A2c.636C>A (p.Ile212=)
c.567C>A (p.Ile189=)
6g.25918501A>CCA363168836SLC17A2c.635T>G (p.Ile212Ser)
c.566T>G (p.Ile189Ser)
6g.25918501A>GCA363168839SLC17A2c.635T>C (p.Ile212Thr)
c.566T>C (p.Ile189Thr)
6g.25918501A>TCA363168842SLC17A2c.635T>A (p.Ile212Asn)
c.566T>A (p.Ile189Asn)
6g.25918502T>ACA363168847SLC17A2c.634A>T (p.Ile212Phe)
c.565A>T (p.Ile189Phe)
6g.25918502T>CCA363168849SLC17A2c.634A>G (p.Ile212Val)
c.565A>G (p.Ile189Val)
6g.25918502T>GCA363168852SLC17A2c.634A>C (p.Ile212Leu)
c.565A>C (p.Ile189Leu)
6g.25918503A>CCA363168855SLC17A2c.633T>G (p.Phe211Leu)
c.564T>G (p.Phe188Leu)
6g.25918503A>GCA448981156SLC17A2c.633T>C (p.Phe211=)
c.564T>C (p.Phe188=)
6g.25918503A>TCA363168858SLC17A2c.633T>A (p.Phe211Leu)
c.564T>A (p.Phe188Leu)
6g.25918504A>CCA363168862SLC17A2c.632T>G (p.Phe211Cys)
c.563T>G (p.Phe188Cys)
6g.25918504A>GCA363168865SLC17A2c.632T>C (p.Phe211Ser)
c.563T>C (p.Phe188Ser)
6g.25918504A>TCA363168867SLC17A2c.632T>A (p.Phe211Tyr)
c.563T>A (p.Phe188Tyr)
6g.25918505A>CCA363168873SLC17A2c.631T>G (p.Phe211Val)
c.562T>G (p.Phe188Val)
6g.25918505A>GCA363168877SLC17A2c.631T>C (p.Phe211Leu)
c.562T>C (p.Phe188Leu)
6g.25918505A>TCA363168880SLC17A2c.631T>A (p.Phe211Ile)
c.562T>A (p.Phe188Ile)
6g.25918506A=CA1616810455SLC17A2c.630T= (p.Pro210=)
c.561T= (p.Pro187=)
6g.25918506A>CCA448981158SLC17A2c.630T>G (p.Pro210=)
c.561T>G (p.Pro187=)
6g.25918506A>GCA448981159SLC17A2c.630T>C (p.Pro210=)
c.561T>C (p.Pro187=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.25918506A>TCA448981160SLC17A2c.630T>A (p.Pro210=)
c.561T>A (p.Pro187=)
6g.25918507G>ACA363168883SLC17A2c.629C>T (p.Pro210Leu)
c.560C>T (p.Pro187Leu)
COSMIC
6g.25918507G>CCA363168884SLC17A2c.629C>G (p.Pro210Arg)
c.560C>G (p.Pro187Arg)
dbSNP gnomAD v4
6g.25918507G=CA1616810456SLC17A2c.629C= (p.Pro210=)
c.560C= (p.Pro187=)
6g.25918507G>TCA363168888SLC17A2c.629C>A (p.Pro210His)
c.560C>A (p.Pro187His)
6g.25918508G>ACA363168894SLC17A2c.628C>T (p.Pro210Ser)
c.559C>T (p.Pro187Ser)
6g.25918508G>CCA363168898SLC17A2c.628C>G (p.Pro210Ala)
c.559C>G (p.Pro187Ala)
6g.25918508G>TCA363168901SLC17A2c.628C>A (p.Pro210Thr)
c.559C>A (p.Pro187Thr)
6g.25918509C>ACA363168905SLC17A2c.627G>T (p.Trp209Cys)
c.558G>T (p.Trp186Cys)
gnomAD v4
6g.25918509C=CA1616810457SLC17A2c.627G= (p.Trp209=)
c.558G= (p.Trp186=)
6g.25918509C>GCA363168910SLC17A2c.627G>C (p.Trp209Cys)
c.558G>C (p.Trp186Cys)
6g.25918509C>TCA136234841SLC17A2c.627G>A (p.Trp209Ter)
c.558G>A (p.Trp186Ter)
dbSNP gnomAD v4
6g.25918510C>ACA363168919SLC17A2c.626G>T (p.Trp209Leu)
c.557G>T (p.Trp186Leu)
6g.25918510C>GCA363168920SLC17A2c.626G>C (p.Trp209Ser)
c.557G>C (p.Trp186Ser)
6g.25918510C>TCA363168923SLC17A2c.626G>A (p.Trp209Ter)
c.557G>A (p.Trp186Ter)
6g.25918511A>CCA363168928SLC17A2c.625T>G (p.Trp209Gly)
c.556T>G (p.Trp186Gly)
6g.25918511A>GCA363168930SLC17A2c.625T>C (p.Trp209Arg)
c.556T>C (p.Trp186Arg)
6g.25918511A>TCA363168932SLC17A2c.625T>A (p.Trp209Arg)
c.556T>A (p.Trp186Arg)
6g.25918512G>ACA448981163SLC17A2c.624C>T (p.Ser208=)
c.555C>T (p.Ser185=)
6g.25918512G>CCA363168936SLC17A2c.624C>G (p.Ser208Arg)
c.555C>G (p.Ser185Arg)
6g.25918512G>TCA363168940SLC17A2c.624C>A (p.Ser208Arg)
c.555C>A (p.Ser185Arg)
gnomAD v4
6g.25918513C>ACA363168944SLC17A2c.623G>T (p.Ser208Ile)
c.554G>T (p.Ser185Ile)
6g.25918513C=CA1616810458SLC17A2c.623G= (p.Ser208=)
c.554G= (p.Ser185=)
6g.25918513C>GCA363168947SLC17A2c.623G>C (p.Ser208Thr)
c.554G>C (p.Ser185Thr)
6g.25918513C>TCA3663527SLC17A2c.623G>A (p.Ser208Asn)
c.554G>A (p.Ser185Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25918514T>ACA363168961SLC17A2c.622A>T (p.Ser208Cys)
c.553A>T (p.Ser185Cys)
6g.25918514T>CCA363168956SLC17A2c.622A>G (p.Ser208Gly)
c.553A>G (p.Ser185Gly)
6g.25918514T>GCA363168953SLC17A2c.622A>C (p.Ser208Arg)
c.553A>C (p.Ser185Arg)
6g.25918515C>ACA363168965SLC17A2c.621G>T (p.Leu207Phe)
c.552G>T (p.Leu184Phe)
6g.25918515C=CA1616810459SLC17A2c.621G= (p.Leu207=)
c.552G= (p.Leu184=)
6g.25918515C>GCA363168967SLC17A2c.621G>C (p.Leu207Phe)
c.552G>C (p.Leu184Phe)
6g.25918515C>TCA3663528SLC17A2c.621G>A (p.Leu207=)
c.552G>A (p.Leu184=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25918516A>CCA363168975SLC17A2c.620T>G (p.Leu207Trp)
c.551T>G (p.Leu184Trp)
gnomAD v4
6g.25918516A>GCA363168976SLC17A2c.620T>C (p.Leu207Ser)
c.551T>C (p.Leu184Ser)
6g.25918516A>TCA363168980SLC17A2c.620T>A (p.Leu207Ter)
c.551T>A (p.Leu184Ter)
6g.25918517A>CCA363168984SLC17A2c.619T>G (p.Leu207Val)
c.550T>G (p.Leu184Val)
6g.25918517A>GCA448981168SLC17A2c.619T>C (p.Leu207=)
c.550T>C (p.Leu184=)
6g.25918517A>TCA363168987SLC17A2c.619T>A (p.Leu207Met)
c.550T>A (p.Leu184Met)
6g.25918518G>ACA448981171SLC17A2c.618C>T (p.Ala206=)
c.549C>T (p.Ala183=)
gnomAD v4
6g.25918518G>CCA448981169SLC17A2c.618C>G (p.Ala206=)
c.549C>G (p.Ala183=)
6g.25918518G>TCA448981170SLC17A2c.618C>A (p.Ala206=)
c.549C>A (p.Ala183=)
6g.25918519G>ACA363168990SLC17A2c.617C>T (p.Ala206Val)
c.548C>T (p.Ala183Val)
6g.25918519G>CCA363168994SLC17A2c.617C>G (p.Ala206Gly)
c.548C>G (p.Ala183Gly)
gnomAD v4
6g.25918519G>TCA363168997SLC17A2c.617C>A (p.Ala206Asp)
c.548C>A (p.Ala183Asp)
6g.25918520C>ACA363169005SLC17A2c.616G>T (p.Ala206Ser)
c.547G>T (p.Ala183Ser)
gnomAD v4
6g.25918520C>GCA363169003SLC17A2c.616G>C (p.Ala206Pro)
c.547G>C (p.Ala183Pro)
6g.25918520C>TCA363169000SLC17A2c.616G>A (p.Ala206Thr)
c.547G>A (p.Ala183Thr)
6g.25918521C>ACA3663529SLC17A2c.615G>T (p.Gln205His)
c.546G>T (p.Gln182His)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25918521C=CA1616810460SLC17A2c.615G= (p.Gln205=)
c.546G= (p.Gln182=)
6g.25918521C>GCA363169013SLC17A2c.615G>C (p.Gln205His)
c.546G>C (p.Gln182His)
6g.25918521C>TCA448981175SLC17A2c.615G>A (p.Gln205=)
c.546G>A (p.Gln182=)
6g.25918522T>ACA363169018SLC17A2c.614A>T (p.Gln205Leu)
c.545A>T (p.Gln182Leu)
6g.25918522T>CCA363169021SLC17A2c.614A>G (p.Gln205Arg)
c.545A>G (p.Gln182Arg)
6g.25918522T>GCA363169024SLC17A2c.614A>C (p.Gln205Pro)
c.545A>C (p.Gln182Pro)
6g.25918523G>ACA363169028SLC17A2c.613C>T (p.Gln205Ter)
c.544C>T (p.Gln182Ter)
6g.25918523G>CCA363169031SLC17A2c.613C>G (p.Gln205Glu)
c.544C>G (p.Gln182Glu)
6g.25918523G>TCA363169034SLC17A2c.613C>A (p.Gln205Lys)
c.544C>A (p.Gln182Lys)
6g.25918524T>ACA448981177SLC17A2c.612A>T (p.Ser204=)
c.543A>T (p.Ser181=)
COSMIC
6g.25918524T>CCA448981178SLC17A2c.612A>G (p.Ser204=)
c.543A>G (p.Ser181=)
6g.25918524T>GCA448981180SLC17A2c.612A>C (p.Ser204=)
c.543A>C (p.Ser181=)
gnomAD v4
6g.25918525G>ACA363169038SLC17A2c.611C>T (p.Ser204Leu)
c.542C>T (p.Ser181Leu)
6g.25918525G>CCA363169043SLC17A2c.611C>G (p.Ser204Ter)
c.542C>G (p.Ser181Ter)
6g.25918525G>TCA363169041SLC17A2c.611C>A (p.Ser204Ter)
c.542C>A (p.Ser181Ter)
6g.25918526A>CCA363169047SLC17A2c.610T>G (p.Ser204Ala)
c.541T>G (p.Ser181Ala)
6g.25918526A>GCA363169049SLC17A2c.610T>C (p.Ser204Pro)
c.541T>C (p.Ser181Pro)
6g.25918526A>TCA363169053SLC17A2c.610T>A (p.Ser204Thr)
c.541T>A (p.Ser181Thr)
6g.25918527G>ACA448981183SLC17A2c.609C>T (p.Ile203=)
c.540C>T (p.Ile180=)
6g.25918527G>CCA363169058SLC17A2c.609C>G (p.Ile203Met)
c.540C>G (p.Ile180Met)
6g.25918527G>TCA448981182SLC17A2c.609C>A (p.Ile203=)
c.540C>A (p.Ile180=)
6g.25918528A>CCA363169062SLC17A2c.608T>G (p.Ile203Ser)
c.539T>G (p.Ile180Ser)
6g.25918528A>GCA363169068SLC17A2c.608T>C (p.Ile203Thr)
c.539T>C (p.Ile180Thr)
6g.25918528A>TCA363169065SLC17A2c.608T>A (p.Ile203Asn)
c.539T>A (p.Ile180Asn)
6g.25918529T>ACA363169072SLC17A2c.607A>T (p.Ile203Phe)
c.538A>T (p.Ile180Phe)
6g.25918529T>CCA363169074SLC17A2c.607A>G (p.Ile203Val)
c.538A>G (p.Ile180Val)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.25918529T>GCA363169075SLC17A2c.607A>C (p.Ile203Leu)
c.538A>C (p.Ile180Leu)
6g.25918529T=CA1616810461SLC17A2c.607A= (p.Ile203=)
c.538A= (p.Ile180=)
6g.25918530delCA2677596674SLC17A2c.607del (p.Ile203SerfsTer5)
c.538del (p.Ile180SerfsTer5)
gnomAD v4
6g.25918530T>ACA448981186SLC17A2c.606A>T (p.Leu202=)
c.537A>T (p.Leu179=)
6g.25918530T>CCA448981188SLC17A2c.606A>G (p.Leu202=)
c.537A>G (p.Leu179=)
gnomAD v4
6g.25918530T>GCA448981190SLC17A2c.606A>C (p.Leu202=)
c.537A>C (p.Leu179=)
6g.25918531A=CA1616810462SLC17A2c.605T= (p.Leu202=)
c.536T= (p.Leu179=)
6g.25918531A>CCA363169081SLC17A2c.605T>G (p.Leu202Arg)
c.536T>G (p.Leu179Arg)
6g.25918531A>GCA363169089SLC17A2c.605T>C (p.Leu202Pro)
c.536T>C (p.Leu179Pro)
dbSNP gnomAD v4
6g.25918531A>TCA363169091SLC17A2c.605T>A (p.Leu202Gln)
c.536T>A (p.Leu179Gln)
6g.25918532G>ACA448981192SLC17A2c.604C>T (p.Leu202=)
c.535C>T (p.Leu179=)
6g.25918532G>CCA363169093SLC17A2c.604C>G (p.Leu202Val)
c.535C>G (p.Leu179Val)
6g.25918532G>TCA363169096SLC17A2c.604C>A (p.Leu202Ile)
c.535C>A (p.Leu179Ile)
COSMIC COSMIC
6g.25918533T>ACA448981193SLC17A2c.603A>T (p.Gly201=)
c.534A>T (p.Gly178=)
6g.25918533T>CCA448981194SLC17A2c.603A>G (p.Gly201=)
c.534A>G (p.Gly178=)
6g.25918533T>GCA448981195SLC17A2c.603A>C (p.Gly201=)
c.534A>C (p.Gly178=)
6g.25918533T=CA1616810463SLC17A2c.603A= (p.Gly201=)
c.534A= (p.Gly178=)
6g.25918534C>ACA3663531SLC17A2c.602G>T (p.Gly201Val)
c.533G>T (p.Gly178Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25918534C=CA1616810464SLC17A2c.602G= (p.Gly201=)
c.533G= (p.Gly178=)
6g.25918534C>GCA3663530SLC17A2c.602G>C (p.Gly201Ala)
c.533G>C (p.Gly178Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25918534C>TCA363169103SLC17A2c.602G>A (p.Gly201Glu)
c.533G>A (p.Gly178Glu)
dbSNP gnomAD v2 gnomAD v4
6g.25918539dupCA823427526SLC17A2c.602dup (p.Leu202ThrfsTer17)
c.533dup (p.Leu179ThrfsTer17)
dbSNP gnomAD v4
6g.25918539delCA448981197SLC17A2c.602del (p.Gly201AspfsTer2)
c.533del (p.Gly178AspfsTer2)
COSMIC COSMIC COSMIC
6g.25918535C>ACA363169109SLC17A2c.601G>T (p.Gly201Ter)
c.532G>T (p.Gly178Ter)
6g.25918535C>GCA363169113SLC17A2c.601G>C (p.Gly201Arg)
c.532G>C (p.Gly178Arg)
6g.25918535C>TCA363169111SLC17A2c.601G>A (p.Gly201Arg)
c.532G>A (p.Gly178Arg)
6g.25918536C>ACA448981198SLC17A2c.600G>T (p.Gly200=)
c.531G>T (p.Gly177=)
6g.25918536C=CA1616810465SLC17A2c.600G= (p.Gly200=)
c.531G= (p.Gly177=)
6g.25918536C>GCA448981200SLC17A2c.600G>C (p.Gly200=)
c.531G>C (p.Gly177=)
6g.25918536C>TCA448981202SLC17A2c.600G>A (p.Gly200=)
c.531G>A (p.Gly177=)
dbSNP gnomAD v3 gnomAD v4
6g.25918537C>ACA363169118SLC17A2c.599G>T (p.Gly200Val)
c.530G>T (p.Gly177Val)
6g.25918537C>GCA363169120SLC17A2c.599G>C (p.Gly200Ala)
c.530G>C (p.Gly177Ala)
6g.25918537C>TCA363169122SLC17A2c.599G>A (p.Gly200Glu)
c.530G>A (p.Gly177Glu)
6g.25918538C>ACA363169127SLC17A2c.598G>T (p.Gly200Trp)
c.529G>T (p.Gly177Trp)
6g.25918538C>GCA363169139SLC17A2c.598G>C (p.Gly200Arg)
c.529G>C (p.Gly177Arg)
gnomAD v4
6g.25918538C>TCA363169142SLC17A2c.598G>A (p.Gly200Arg)
c.529G>A (p.Gly177Arg)
COSMIC COSMIC
6g.25918539C>ACA448981203SLC17A2c.597G>T (p.Val199=)
c.528G>T (p.Val176=)
dbSNP gnomAD v4
6g.25918539C=CA1616810466SLC17A2c.597G= (p.Val199=)
c.528G= (p.Val176=)
6g.25918539C>GCA3663532SLC17A2c.597G>C (p.Val199=)
c.528G>C (p.Val176=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25918539C>TCA448981204SLC17A2c.597G>A (p.Val199=)
c.528G>A (p.Val176=)
dbSNP gnomAD v4
6g.25918540A>CCA363169150SLC17A2c.596T>G (p.Val199Gly)
c.527T>G (p.Val176Gly)
6g.25918540A>GCA363169153SLC17A2c.596T>C (p.Val199Ala)
c.527T>C (p.Val176Ala)
6g.25918540A>TCA363169157SLC17A2c.596T>A (p.Val199Glu)
c.527T>A (p.Val176Glu)
6g.25918540dupCA2677596675SLC17A2c.596dup (p.Leu202ThrfsTer17)
c.527dup (p.Leu179ThrfsTer17)
gnomAD v4

Number of alleles fetched