Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.64598579G>ACA223870887SLC22A12c.894G>A (p.Glu298=)
c.792G>A (p.Glu264=)
c.570G>A (p.Glu190=)
c.231G>A (p.Glu77=)
c.969G>A (p.Glu323=)
c.864G>A (p.Glu288=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64598579G>CCA381125955SLC22A12c.894G>C (p.Glu298Asp)
c.792G>C (p.Glu264Asp)
c.570G>C (p.Glu190Asp)
c.231G>C (p.Glu77Asp)
c.969G>C (p.Glu323Asp)
c.864G>C (p.Glu288Asp)
11g.64598579G=CA1978798786SLC22A12c.894G= (p.Glu298=)
c.792G= (p.Glu264=)
c.570G= (p.Glu190=)
c.231G= (p.Glu77=)
c.969G= (p.Glu323=)
c.864G= (p.Glu288=)
11g.64598579G>TCA116315SLC22A12c.894G>T (p.Glu298Asp)
c.792G>T (p.Glu264Asp)
c.570G>T (p.Glu190Asp)
c.231G>T (p.Glu77Asp)
c.969G>T (p.Glu323Asp)
c.864G>T (p.Glu288Asp)
 ClinVar dbSNP
11g.64598580C>ACA381125962SLC22A12c.895C>A (p.Leu299Met)
c.793C>A (p.Leu265Met)
c.571C>A (p.Leu191Met)
c.232C>A (p.Leu78Met)
c.970C>A (p.Leu324Met)
c.865C>A (p.Leu289Met)
 gnomAD v4
11g.64598580C=CA1978798790SLC22A12c.895C= (p.Leu299=)
c.793C= (p.Leu265=)
c.571C= (p.Leu191=)
c.232C= (p.Leu78=)
c.970C= (p.Leu324=)
c.865C= (p.Leu289=)
11g.64598580C>GCA381125964SLC22A12c.895C>G (p.Leu299Val)
c.793C>G (p.Leu265Val)
c.571C>G (p.Leu191Val)
c.232C>G (p.Leu78Val)
c.970C>G (p.Leu324Val)
c.865C>G (p.Leu289Val)
11g.64598580C>TCA6077222SLC22A12c.895C>T (p.Leu299=)
c.793C>T (p.Leu265=)
c.571C>T (p.Leu191=)
c.232C>T (p.Leu78=)
c.970C>T (p.Leu324=)
c.865C>T (p.Leu289=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.64598580_64598581delCA2569481180SLC22A12c.895_896del (p.Leu299ValfsTer19)
c.793_794del (p.Leu265ValfsTer19)
c.571_572del (p.Leu191ValfsTer19)
c.232_233del (p.Leu78ValfsTer19)
c.970_971del (p.Leu324ValfsTer19)
c.865_866del (p.Leu289ValfsTer19)
11g.64598581T>ACA381125971SLC22A12c.896T>A (p.Leu299Gln)
c.794T>A (p.Leu265Gln)
c.572T>A (p.Leu191Gln)
c.233T>A (p.Leu78Gln)
c.971T>A (p.Leu324Gln)
c.866T>A (p.Leu289Gln)
11g.64598581T>CCA381125972SLC22A12c.896T>C (p.Leu299Pro)
c.794T>C (p.Leu265Pro)
c.572T>C (p.Leu191Pro)
c.233T>C (p.Leu78Pro)
c.971T>C (p.Leu324Pro)
c.866T>C (p.Leu289Pro)
 dbSNP gnomAD v4
11g.64598581T>GCA381125977SLC22A12c.896T>G (p.Leu299Arg)
c.794T>G (p.Leu265Arg)
c.572T>G (p.Leu191Arg)
c.233T>G (p.Leu78Arg)
c.971T>G (p.Leu324Arg)
c.866T>G (p.Leu289Arg)
11g.64598582G>ACA474956161SLC22A12c.897G>A (p.Leu299=)
c.795G>A (p.Leu265=)
c.573G>A (p.Leu191=)
c.234G>A (p.Leu78=)
c.972G>A (p.Leu324=)
c.867G>A (p.Leu289=)
 gnomAD v4
11g.64598582G>CCA474956159SLC22A12c.897G>C (p.Leu299=)
c.795G>C (p.Leu265=)
c.573G>C (p.Leu191=)
c.234G>C (p.Leu78=)
c.972G>C (p.Leu324=)
c.867G>C (p.Leu289=)
11g.64598582G>TCA474956157SLC22A12c.897G>T (p.Leu299=)
c.795G>T (p.Leu265=)
c.573G>T (p.Leu191=)
c.234G>T (p.Leu78=)
c.972G>T (p.Leu324=)
c.867G>T (p.Leu289=)
11g.64598583T>ACA381125978SLC22A12c.898T>A (p.Trp300Arg)
c.796T>A (p.Trp266Arg)
c.574T>A (p.Trp192Arg)
c.235T>A (p.Trp79Arg)
c.973T>A (p.Trp325Arg)
c.868T>A (p.Trp290Arg)
11g.64598583T>CCA381125979SLC22A12c.898T>C (p.Trp300Arg)
c.796T>C (p.Trp266Arg)
c.574T>C (p.Trp192Arg)
c.235T>C (p.Trp79Arg)
c.973T>C (p.Trp325Arg)
c.868T>C (p.Trp290Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.64598583T>GCA381125982SLC22A12c.898T>G (p.Trp300Gly)
c.796T>G (p.Trp266Gly)
c.574T>G (p.Trp192Gly)
c.235T>G (p.Trp79Gly)
c.973T>G (p.Trp325Gly)
c.868T>G (p.Trp290Gly)
11g.64598583T=CA1978798794SLC22A12c.898T= (p.Trp300=)
c.796T= (p.Trp266=)
c.574T= (p.Trp192=)
c.235T= (p.Trp79=)
c.973T= (p.Trp325=)
c.868T= (p.Trp290=)
11g.64598584G>ACA381125985SLC22A12c.899G>A (p.Trp300Ter)
c.797G>A (p.Trp266Ter)
c.575G>A (p.Trp192Ter)
c.236G>A (p.Trp79Ter)
c.974G>A (p.Trp325Ter)
c.869G>A (p.Trp290Ter)
11g.64598584G>CCA381125998SLC22A12c.899G>C (p.Trp300Ser)
c.797G>C (p.Trp266Ser)
c.575G>C (p.Trp192Ser)
c.236G>C (p.Trp79Ser)
c.974G>C (p.Trp325Ser)
c.869G>C (p.Trp290Ser)
11g.64598584G>TCA381125989SLC22A12c.899G>T (p.Trp300Leu)
c.797G>T (p.Trp266Leu)
c.575G>T (p.Trp192Leu)
c.236G>T (p.Trp79Leu)
c.974G>T (p.Trp325Leu)
c.869G>T (p.Trp290Leu)
 gnomAD v4
11g.64598585G>ACA381126000SLC22A12c.900G>A (p.Trp300Ter)
c.798G>A (p.Trp266Ter)
c.576G>A (p.Trp192Ter)
c.237G>A (p.Trp79Ter)
c.975G>A (p.Trp325Ter)
c.870G>A (p.Trp290Ter)
11g.64598585G>CCA381126003SLC22A12c.900G>C (p.Trp300Cys)
c.798G>C (p.Trp266Cys)
c.576G>C (p.Trp192Cys)
c.237G>C (p.Trp79Cys)
c.975G>C (p.Trp325Cys)
c.870G>C (p.Trp290Cys)
11g.64598585G>TCA381126008SLC22A12c.900G>T (p.Trp300Cys)
c.798G>T (p.Trp266Cys)
c.576G>T (p.Trp192Cys)
c.237G>T (p.Trp79Cys)
c.975G>T (p.Trp325Cys)
c.870G>T (p.Trp290Cys)
11g.64598586A>CCA474956166SLC22A12c.901A>C (p.Arg301=)
c.799A>C (p.Arg267=)
c.577A>C (p.Arg193=)
c.238A>C (p.Arg80=)
c.976A>C (p.Arg326=)
c.871A>C (p.Arg291=)
11g.64598586A>GCA381126016SLC22A12c.901A>G (p.Arg301Gly)
c.799A>G (p.Arg267Gly)
c.577A>G (p.Arg193Gly)
c.238A>G (p.Arg80Gly)
c.976A>G (p.Arg326Gly)
c.871A>G (p.Arg291Gly)
 gnomAD v4
11g.64598586A>TCA381126017SLC22A12c.901A>T (p.Arg301Trp)
c.799A>T (p.Arg267Trp)
c.577A>T (p.Arg193Trp)
c.238A>T (p.Arg80Trp)
c.976A>T (p.Arg326Trp)
c.871A>T (p.Arg291Trp)
11g.64598587G>ACA381126018SLC22A12c.902G>A (p.Arg301Lys)
c.800G>A (p.Arg267Lys)
c.578G>A (p.Arg193Lys)
c.239G>A (p.Arg80Lys)
c.977G>A (p.Arg326Lys)
c.872G>A (p.Arg291Lys)
11g.64598587G>CCA381126019SLC22A12c.902G>C (p.Arg301Thr)
c.800G>C (p.Arg267Thr)
c.578G>C (p.Arg193Thr)
c.239G>C (p.Arg80Thr)
c.977G>C (p.Arg326Thr)
c.872G>C (p.Arg291Thr)
 gnomAD v4
11g.64598587G>TCA381126020SLC22A12c.902G>T (p.Arg301Met)
c.800G>T (p.Arg267Met)
c.578G>T (p.Arg193Met)
c.239G>T (p.Arg80Met)
c.977G>T (p.Arg326Met)
c.872G>T (p.Arg291Met)
 gnomAD v4
11g.64598589delCA645581810SLC22A12c.904del (p.Val302TrpfsTer14)
c.802del (p.Val268TrpfsTer14)
c.580del (p.Val194TrpfsTer14)
c.241del (p.Val81TrpfsTer14)
c.979del (p.Val327TrpfsTer14)
c.874del (p.Val292TrpfsTer14)
 COSMIC
11g.64598588G>ACA223870888SLC22A12c.903G>A (p.Arg301=)
c.801G>A (p.Arg267=)
c.579G>A (p.Arg193=)
c.240G>A (p.Arg80=)
c.978G>A (p.Arg326=)
c.873G>A (p.Arg291=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.64598588G>CCA381126023SLC22A12c.903G>C (p.Arg301Ser)
c.801G>C (p.Arg267Ser)
c.579G>C (p.Arg193Ser)
c.240G>C (p.Arg80Ser)
c.978G>C (p.Arg326Ser)
c.873G>C (p.Arg291Ser)
11g.64598588G=CA1978798803SLC22A12c.903G= (p.Arg301=)
c.801G= (p.Arg267=)
c.579G= (p.Arg193=)
c.240G= (p.Arg80=)
c.978G= (p.Arg326=)
c.873G= (p.Arg291=)
11g.64598588G>TCA381126025SLC22A12c.903G>T (p.Arg301Ser)
c.801G>T (p.Arg267Ser)
c.579G>T (p.Arg193Ser)
c.240G>T (p.Arg80Ser)
c.978G>T (p.Arg326Ser)
c.873G>T (p.Arg291Ser)
11g.64598589G>ACA381126029SLC22A12c.904G>A (p.Val302Met)
c.802G>A (p.Val268Met)
c.580G>A (p.Val194Met)
c.241G>A (p.Val81Met)
c.979G>A (p.Val327Met)
c.874G>A (p.Val292Met)
11g.64598589G>CCA381126032SLC22A12c.904G>C (p.Val302Leu)
c.802G>C (p.Val268Leu)
c.580G>C (p.Val194Leu)
c.241G>C (p.Val81Leu)
c.979G>C (p.Val327Leu)
c.874G>C (p.Val292Leu)
11g.64598589G>TCA381126035SLC22A12c.904G>T (p.Val302Leu)
c.802G>T (p.Val268Leu)
c.580G>T (p.Val194Leu)
c.241G>T (p.Val81Leu)
c.979G>T (p.Val327Leu)
c.874G>T (p.Val292Leu)
11g.64598590T>ACA381126051SLC22A12c.905T>A (p.Val302Glu)
c.803T>A (p.Val268Glu)
c.581T>A (p.Val194Glu)
c.242T>A (p.Val81Glu)
c.980T>A (p.Val327Glu)
c.875T>A (p.Val292Glu)
11g.64598590T>CCA381126050SLC22A12c.905T>C (p.Val302Ala)
c.803T>C (p.Val268Ala)
c.581T>C (p.Val194Ala)
c.242T>C (p.Val81Ala)
c.980T>C (p.Val327Ala)
c.875T>C (p.Val292Ala)
11g.64598590T>GCA223870891SLC22A12c.905T>G (p.Val302Gly)
c.803T>G (p.Val268Gly)
c.581T>G (p.Val194Gly)
c.242T>G (p.Val81Gly)
c.980T>G (p.Val327Gly)
c.875T>G (p.Val292Gly)
 dbSNP gnomAD v4
11g.64598590T=CA1978798806SLC22A12c.905T= (p.Val302=)
c.803T= (p.Val268=)
c.581T= (p.Val194=)
c.242T= (p.Val81=)
c.980T= (p.Val327=)
c.875T= (p.Val292=)
11g.64598591G>ACA474956172SLC22A12c.906G>A (p.Val302=)
c.804G>A (p.Val268=)
c.582G>A (p.Val194=)
c.243G>A (p.Val81=)
c.981G>A (p.Val327=)
c.876G>A (p.Val292=)
 gnomAD v4
11g.64598591G>CCA474956174SLC22A12c.906G>C (p.Val302=)
c.804G>C (p.Val268=)
c.582G>C (p.Val194=)
c.243G>C (p.Val81=)
c.981G>C (p.Val327=)
c.876G>C (p.Val292=)
11g.64598591G>TCA474956175SLC22A12c.906G>T (p.Val302=)
c.804G>T (p.Val268=)
c.582G>T (p.Val194=)
c.243G>T (p.Val81=)
c.981G>T (p.Val327=)
c.876G>T (p.Val292=)
11g.64598592G>ACA381126052SLC22A12c.907G>A (p.Ala303Thr)
c.805G>A (p.Ala269Thr)
c.583G>A (p.Ala195Thr)
c.244G>A (p.Ala82Thr)
c.982G>A (p.Ala328Thr)
c.877G>A (p.Ala293Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.64598592G>CCA381126055SLC22A12c.907G>C (p.Ala303Pro)
c.805G>C (p.Ala269Pro)
c.583G>C (p.Ala195Pro)
c.244G>C (p.Ala82Pro)
c.982G>C (p.Ala328Pro)
c.877G>C (p.Ala293Pro)
11g.64598592G=CA1978798809SLC22A12c.907G= (p.Ala303=)
c.805G= (p.Ala269=)
c.583G= (p.Ala195=)
c.244G= (p.Ala82=)
c.982G= (p.Ala328=)
c.877G= (p.Ala293=)
11g.64598592G>TCA381126059SLC22A12c.907G>T (p.Ala303Ser)
c.805G>T (p.Ala269Ser)
c.583G>T (p.Ala195Ser)
c.244G>T (p.Ala82Ser)
c.982G>T (p.Ala328Ser)
c.877G>T (p.Ala293Ser)

Number of alleles fetched