Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.78304900delCA2579362210PSAT1c.357del (p.Thr120LeufsTer2)
ClinVar
9g.78304900G>ACA194441161PSAT1c.357G>A (p.Gly119=)
ClinVar dbSNP gnomAD v4
9g.78304900G>CCA465542992PSAT1c.357G>C (p.Gly119=)
9g.78304900G=CA1857665750PSAT1c.357G= (p.Gly119=)
9g.78304900G>TCA465542993PSAT1c.357G>T (p.Gly119=)
9g.78304901A>CCA373872506PSAT1c.358A>C (p.Thr120Pro)
9g.78304901A>GCA373872507PSAT1c.358A>G (p.Thr120Ala)
ClinVar
9g.78304901A>TCA373872508PSAT1c.358A>T (p.Thr120Ser)
9g.78304902C>ACA373872509PSAT1c.359C>A (p.Thr120Asn)
9g.78304902C=CA1857665751PSAT1c.359C= (p.Thr120=)
9g.78304902C>GCA194441168PSAT1c.359C>G (p.Thr120Ser)
dbSNP
9g.78304902C>TCA373872510PSAT1c.359C>T (p.Thr120Ile)
9g.78304903T>ACA465542996PSAT1c.360T>A (p.Thr120=)
9g.78304903T>CCA465542995PSAT1c.360T>C (p.Thr120=)
9g.78304903T>GCA465542994PSAT1c.360T>G (p.Thr120=)
9g.78304904A=CA1857665752PSAT1c.361A= (p.Ile121=)
9g.78304904A>CCA373872511PSAT1c.361A>C (p.Ile121Leu)
9g.78304904A>GCA373872512PSAT1c.361A>G (p.Ile121Val)
dbSNP
9g.78304904A>TCA373872513PSAT1c.361A>T (p.Ile121Leu)
9g.78304905T>ACA373872515PSAT1c.362T>A (p.Ile121Lys)
9g.78304905T>CCA373872516PSAT1c.362T>C (p.Ile121Thr)
gnomAD v4
9g.78304905T>GCA373872514PSAT1c.362T>G (p.Ile121Arg)
9g.78304906A>CCA465542998PSAT1c.363A>C (p.Ile121=)
9g.78304906A>GCA373872517PSAT1c.363A>G (p.Ile121Met)
9g.78304906A>TCA465542997PSAT1c.363A>T (p.Ile121=)
9g.78304907A>CCA373872518PSAT1c.364A>C (p.Asn122His)
9g.78304907A>GCA373872519PSAT1c.364A>G (p.Asn122Asp)
9g.78304907A>TCA373872520PSAT1c.364A>T (p.Asn122Tyr)
9g.78304908A>CCA373872521PSAT1c.365A>C (p.Asn122Thr)
9g.78304908A>GCA373872522PSAT1c.365A>G (p.Asn122Ser)
9g.78304908A>TCA373872523PSAT1c.365A>T (p.Asn122Ile)
9g.78304909T>ACA373872524PSAT1c.366T>A (p.Asn122Lys)
9g.78304909T>CCA465542999PSAT1c.366T>C (p.Asn122=)
9g.78304909T>GCA373872525PSAT1c.366T>G (p.Asn122Lys)
9g.78304910A=CA1857665753PSAT1c.367A= (p.Ile123=)
9g.78304910A>CCA373872526PSAT1c.367A>C (p.Ile123Leu)
dbSNP
9g.78304910A>GCA5095589PSAT1c.367A>G (p.Ile123Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.78304910A>TCA373872527PSAT1c.367A>T (p.Ile123Phe)
9g.78304911T>ACA373872529PSAT1c.368T>A (p.Ile123Asn)
9g.78304911T>CCA5095590PSAT1c.368T>C (p.Ile123Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.78304911T>GCA373872528PSAT1c.368T>G (p.Ile123Ser)
9g.78304911T=CA1857665754PSAT1c.368T= (p.Ile123=)
9g.78304912C>ACA5095592PSAT1c.369C>A (p.Ile123=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.78304912C=CA1857665755PSAT1c.369C= (p.Ile123=)
9g.78304912C>GCA373872530PSAT1c.369C>G (p.Ile123Met)
9g.78304912C>TCA5095591PSAT1c.369C>T (p.Ile123=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.78304913G>ACA5095593PSAT1c.370G>A (p.Val124Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.78304913G>CCA373872531PSAT1c.370G>C (p.Val124Leu)
9g.78304913G=CA1857665756PSAT1c.370G= (p.Val124=)
9g.78304913G>TCA373872532PSAT1c.370G>T (p.Val124Phe)
gnomAD v4
9g.78304913_78304920delinsGTTCACCCCA1857665757PSAT1c.370_377delinsGTTCACCC (p.Val124=)
9g.78304914T>ACA373872535PSAT1c.371T>A (p.Val124Asp)
9g.78304914T>CCA373872533PSAT1c.371T>C (p.Val124Ala)
9g.78304914T>GCA373872534PSAT1c.371T>G (p.Val124Gly)
9g.78304915_78304921delCA588775340PSAT1c.372_378del (p.His125AsnfsTer?)
dbSNP gnomAD v2 gnomAD v4
9g.78304915T>ACA465543001PSAT1c.372T>A (p.Val124=)
9g.78304915T>CCA465543000PSAT1c.372T>C (p.Val124=)
9g.78304915T>GCA465543002PSAT1c.372T>G (p.Val124=)
9g.78304916C>ACA373872536PSAT1c.373C>A (p.His125Asn)
COSMIC
9g.78304916C=CA1857665758PSAT1c.373C= (p.His125=)
9g.78304916C>GCA373872537PSAT1c.373C>G (p.His125Asp)
9g.78304916C>TCA194441178PSAT1c.373C>T (p.His125Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.78304917A>CCA373872538PSAT1c.374A>C (p.His125Pro)
9g.78304917A>GCA373872539PSAT1c.374A>G (p.His125Arg)
9g.78304917A>TCA373872540PSAT1c.374A>T (p.His125Leu)
9g.78304917dupCA2690397190PSAT1c.374dup (p.His125GlnfsTer3)
gnomAD v4
9g.78304918C>ACA373872541PSAT1c.375C>A (p.His125Gln)
9g.78304918C>GCA373872542PSAT1c.375C>G (p.His125Gln)
9g.78304918C>TCA465543003PSAT1c.375C>T (p.His125=)
9g.78304920delCA2690397191PSAT1c.377del (p.Pro126LeufsTer?)
gnomAD v4
9g.78304919C>ACA373872543PSAT1c.376C>A (p.Pro126Thr)
dbSNP gnomAD v3 gnomAD v4
9g.78304919C=CA1857665759PSAT1c.376C= (p.Pro126=)
9g.78304919C>GCA373872544PSAT1c.376C>G (p.Pro126Ala)
9g.78304919C>TCA194441182PSAT1c.376C>T (p.Pro126Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.78304920C>ACA373872545PSAT1c.377C>A (p.Pro126His)
9g.78304920C>GCA373872546PSAT1c.377C>G (p.Pro126Arg)
9g.78304920C>TCA373872547PSAT1c.377C>T (p.Pro126Leu)
9g.78304921T>ACA465543004PSAT1c.378T>A (p.Pro126=)
9g.78304921T>CCA465543006PSAT1c.378T>C (p.Pro126=)
9g.78304921T>GCA465543005PSAT1c.378T>G (p.Pro126=)
9g.78304922A>CCA373872550PSAT1c.379A>C (p.Lys127Gln)
9g.78304922A>GCA373872548PSAT1c.379A>G (p.Lys127Glu)
9g.78304922A>TCA373872549PSAT1c.379A>T (p.Lys127Ter)
9g.78304923A>CCA373872551PSAT1c.380A>C (p.Lys127Thr)
9g.78304923A>GCA373872552PSAT1c.380A>G (p.Lys127Arg)
gnomAD v4
9g.78304923A>TCA373872553PSAT1c.380A>T (p.Lys127Ile)
9g.78304924A>CCA373872554PSAT1c.381A>C (p.Lys127Asn)
9g.78304924A>GCA465543007PSAT1c.381A>G (p.Lys127=)
COSMIC
9g.78304924A>TCA373872555PSAT1c.381A>T (p.Lys127Asn)
9g.78304925C>ACA373872557PSAT1c.382C>A (p.Leu128Ile)
9g.78304925C=CA1857665760PSAT1c.382C= (p.Leu128=)
9g.78304925C>GCA373872556PSAT1c.382C>G (p.Leu128Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.78304925C>TCA5095594PSAT1c.382C>T (p.Leu128Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.78304926T>ACA373872558PSAT1c.383T>A (p.Leu128His)
9g.78304926T>CCA373872559PSAT1c.383T>C (p.Leu128Pro)
dbSNP
9g.78304926T>GCA373872560PSAT1c.383T>G (p.Leu128Arg)
9g.78304926T=CA1857665761PSAT1c.383T= (p.Leu128=)
9g.78304927T>ACA465543008PSAT1c.384T>A (p.Leu128=)
9g.78304927T>CCA465543009PSAT1c.384T>C (p.Leu128=)
gnomAD v4
9g.78304927T>GCA465543010PSAT1c.384T>G (p.Leu128=)
9g.78304927T=CA1857665762PSAT1c.384T= (p.Leu128=)
9g.78304928G>ACA373872561PSAT1c.385G>A (p.Gly129Arg)
dbSNP gnomAD v3 gnomAD v4
9g.78304928G>CCA373872562PSAT1c.385G>C (p.Gly129Arg)
9g.78304928G=CA1857665763PSAT1c.385G= (p.Gly129=)
9g.78304928G>TCA373872563PSAT1c.385G>T (p.Gly129Trp)
ClinVar dbSNP gnomAD v2 gnomAD v4
9g.78304930dupCA194441189PSAT1c.387dup (p.Ser130GlufsTer26)
dbSNP
9g.78304929G>ACA5095595PSAT1c.386G>A (p.Gly129Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.78304929G>CCA373872564PSAT1c.386G>C (p.Gly129Ala)
9g.78304929G=CA1857665764PSAT1c.386G= (p.Gly129=)
9g.78304929G>TCA373872565PSAT1c.386G>T (p.Gly129Val)
9g.78304930G>ACA465543011PSAT1c.387G>A (p.Gly129=)
gnomAD v4
9g.78304930G>CCA465543012PSAT1c.387G>C (p.Gly129=)
9g.78304930G>TCA465543013PSAT1c.387G>T (p.Gly129=)
9g.78304931A>CCA373872566PSAT1c.388A>C (p.Ser130Arg)
9g.78304931A>GCA373872567PSAT1c.388A>G (p.Ser130Gly)
9g.78304931A>TCA373872568PSAT1c.388A>T (p.Ser130Cys)
9g.78304932G>ACA373872569PSAT1c.389G>A (p.Ser130Asn)
9g.78304932G>CCA373872571PSAT1c.389G>C (p.Ser130Thr)
9g.78304932G>TCA373872570PSAT1c.389G>T (p.Ser130Ile)
9g.78304933T>ACA373872572PSAT1c.390T>A (p.Ser130Arg)
9g.78304933T>CCA465543014PSAT1c.390T>C (p.Ser130=)
9g.78304933T>GCA373872573PSAT1c.390T>G (p.Ser130Arg)
gnomAD v4
9g.78304934T>ACA373872574PSAT1c.391T>A (p.Tyr131Asn)
9g.78304934T>CCA373872575PSAT1c.391T>C (p.Tyr131His)
9g.78304934T>GCA373872576PSAT1c.391T>G (p.Tyr131Asp)
9g.78304935A=CA1857665765PSAT1c.392A= (p.Tyr131=)
9g.78304935A>CCA373872579PSAT1c.392A>C (p.Tyr131Ser)
9g.78304935A>GCA373872578PSAT1c.392A>G (p.Tyr131Cys)
9g.78304935A>TCA373872577PSAT1c.392A>T (p.Tyr131Phe)
dbSNP
9g.78304936T>ACA373872580PSAT1c.393T>A (p.Tyr131Ter)
9g.78304936T>CCA5095596PSAT1c.393T>C (p.Tyr131=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.78304936T>GCA5095597PSAT1c.393T>G (p.Tyr131Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.78304936T=CA1857665766PSAT1c.393T= (p.Tyr131=)
9g.78304937A>CCA373872581PSAT1c.394A>C (p.Thr132Pro)
9g.78304937A>GCA373872582PSAT1c.394A>G (p.Thr132Ala)
9g.78304937A>TCA373872583PSAT1c.394A>T (p.Thr132Ser)
9g.78304938C>ACA373872584PSAT1c.395C>A (p.Thr132Lys)
9g.78304938C=CA1857665767PSAT1c.395C= (p.Thr132=)
9g.78304938C>GCA373872586PSAT1c.395C>G (p.Thr132Arg)
ClinVar dbSNP gnomAD v4
9g.78304938C>TCA373872585PSAT1c.395C>T (p.Thr132Ile)
9g.78304939A>CCA465543015PSAT1c.396A>C (p.Thr132=)
9g.78304939A>GCA465543016PSAT1c.396A>G (p.Thr132=)
9g.78304939A>TCA465543017PSAT1c.396A>T (p.Thr132=)
9g.78304940A=CA1857665768PSAT1c.397A= (p.Lys133=)
9g.78304940A>CCA373872587PSAT1c.397A>C (p.Lys133Gln)
9g.78304940A>GCA373872588PSAT1c.397A>G (p.Lys133Glu)
dbSNP gnomAD v4
9g.78304940A>TCA373872589PSAT1c.397A>T (p.Lys133Ter)
9g.78304941G>ACA373872590PSAT1c.397+1G>A (n.397+1G>A)
gnomAD v4
9g.78304941G>CCA373872591PSAT1c.397+1G>C (n.397+1G>C)
9g.78304941G>TCA373872592PSAT1c.397+1G>T (n.397+1G>T)
gnomAD v4
9g.78304942T>ACA373872593PSAT1c.397+2T>A (n.397+2T>A)
9g.78304942T>CCA373872594PSAT1c.397+2T>C (n.397+2T>C)
COSMIC
9g.78304942T>GCA373872595PSAT1c.397+2T>G (n.397+2T>G)
9g.78304945G>ACA2690397192PSAT1c.397+5G>A (n.397+5G>A)
gnomAD v4
9g.78304946T>CCA2690397193PSAT1c.397+6T>C (n.397+6T>C)
gnomAD v4
9g.78304948C>TCA2690397194PSAT1c.397+8C>T (n.397+8C>T)
gnomAD v4
9g.78304952G>ACA588775341PSAT1c.397+12G>A (n.397+12G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.78304952G=CA1857665769PSAT1c.397+12G= (n.397+12G=)
9g.78304954G>ACA5095598PSAT1c.397+14G>A (n.397+14G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.78304954G>CCA2784747470PSAT1c.397+14G>C (n.397+14G>C)
9g.78304954G=CA1857665770PSAT1c.397+14G= (n.397+14G=)
9g.78304955C>TCA2690397195PSAT1c.397+15C>T (n.397+15C>T)
gnomAD v4
9g.78304959G>ACA194441236PSAT1c.397+19G>A (n.397+19G>A)
dbSNP gnomAD v4
9g.78304959G=CA1857665771PSAT1c.397+19G= (n.397+19G=)
9g.78304959G>TCA2784747471PSAT1c.397+19G>T (n.397+19G>T)
9g.78304960C>GCA2579362211PSAT1c.397+20C>G (n.397+20C>G)
9g.78304961T>CCA194441237PSAT1c.397+21T>C (n.397+21T>C)
dbSNP
9g.78304961T=CA1857665772PSAT1c.397+21T= (n.397+21T=)
9g.78304962G>ACA588775342PSAT1c.397+22G>A (n.397+22G>A)
dbSNP gnomAD v2 gnomAD v4
9g.78304962G=CA1857665773PSAT1c.397+22G= (n.397+22G=)
9g.78304963G>ACA5095599PSAT1c.397+23G>A (n.397+23G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.78304963G>CCA5095600PSAT1c.397+23G>C (n.397+23G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.78304963G=CA1857665774PSAT1c.397+23G= (n.397+23G=)
9g.78304964G>ACA2690397196PSAT1c.397+24G>A (n.397+24G>A)
gnomAD v4
9g.78304965T>GCA2690397197PSAT1c.397+25T>G (n.397+25T>G)
gnomAD v4
9g.78304966G>ACA2690397198PSAT1c.397+26G>A (n.397+26G>A)
gnomAD v4
9g.78304968T>GCA2690397199PSAT1c.397+28T>G (n.397+28T>G)
gnomAD v4
9g.78304969G=CA1857665775PSAT1c.397+29G= (n.397+29G=)
9g.78304969G>TCA588775343PSAT1c.397+29G>T (n.397+29G>T)
dbSNP gnomAD v2 gnomAD v4
9g.78304970A>GCA2690397200PSAT1c.397+30A>G (n.397+30A>G)
gnomAD v4
9g.78304971C>ACA2690397201PSAT1c.397+31C>A (n.397+31C>A)
gnomAD v4
9g.78304971C=CA1857665776PSAT1c.397+31C= (n.397+31C=)
9g.78304971C>GCA194441245PSAT1c.397+31C>G (n.397+31C>G)
dbSNP
9g.78304971C>TCA588775344PSAT1c.397+31C>T (n.397+31C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.78304972G>ACA5095601PSAT1c.397+32G>A (n.397+32G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.78304972G=CA1857665777PSAT1c.397+32G= (n.397+32G=)
9g.78304974G>ACA194441251PSAT1c.397+34G>A (n.397+34G>A)
dbSNP
9g.78304974G=CA1857665778PSAT1c.397+34G= (n.397+34G=)
9g.78304977C>ACA867185468PSAT1c.397+37C>A (n.397+37C>A)
dbSNP
9g.78304977C=CA1857665779PSAT1c.397+37C= (n.397+37C=)
9g.78304977C>GCA2690397202PSAT1c.397+37C>G (n.397+37C>G)
gnomAD v4
9g.78304977C>TCA1857665780PSAT1c.397+37C>T (n.397+37C>T)
dbSNP
9g.78304979A=CA1857665781PSAT1c.397+39A= (n.397+39A=)
9g.78304979A>GCA5095602PSAT1c.397+39A>G (n.397+39A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.78304982G>ACA2690397203PSAT1c.397+42G>A (n.397+42G>A)
gnomAD v4
9g.78304982G=CA1857665782PSAT1c.397+42G= (n.397+42G=)
9g.78304982G>TCA5095603PSAT1c.397+42G>T (n.397+42G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.78304984G>ACA1857665784PSAT1c.397+44G>A (n.397+44G>A)
dbSNP
9g.78304984G>CCA588775345PSAT1c.397+44G>C (n.397+44G>C)
dbSNP gnomAD v2 gnomAD v4
9g.78304984G=CA1857665783PSAT1c.397+44G= (n.397+44G=)
9g.78304985G>ACA5095604PSAT1c.397+45G>A (n.397+45G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.78304985G=CA1857665785PSAT1c.397+45G= (n.397+45G=)
9g.78304986G>ACA2579362212PSAT1c.397+46G>A (n.397+46G>A)
9g.78304990C>ACA5095606PSAT1c.397+50C>A (n.397+50C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.78304990C=CA1857665786PSAT1c.397+50C= (n.397+50C=)
9g.78304990C>TCA5095605PSAT1c.397+50C>T (n.397+50C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.78304992C>ACA2690397204PSAT1c.397+52C>A (n.397+52C>A)
gnomAD v4
9g.78304993C>ACA2579362213PSAT1c.397+53C>A (n.397+53C>A)
gnomAD v4
9g.78304993C=CA1857665787PSAT1c.397+53C= (n.397+53C=)
9g.78304993C>TCA194441293PSAT1c.397+53C>T (n.397+53C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.78304994G>ACA1857665789PSAT1c.397+54G>A (n.397+54G>A)
dbSNP gnomAD v4
9g.78304994G>CCA1125768715PSAT1c.397+54G>C (n.397+54G>C)
dbSNP gnomAD v3 gnomAD v4
9g.78304994G=CA1857665788PSAT1c.397+54G= (n.397+54G=)
9g.78304995A>GCA2690397205PSAT1c.397+55A>G (n.397+55A>G)
gnomAD v4
9g.78304996C>ACA2690397207PSAT1c.397+56C>A (n.397+56C>A)
gnomAD v4
9g.78304998delCA2690397206PSAT1c.397+58del (n.397+58del)
gnomAD v4
9g.78304997C>ACA2690397208PSAT1c.397+57C>A (n.397+57C>A)
gnomAD v4
9g.78304997C=CA1857665790PSAT1c.397+57C= (n.397+57C=)
9g.78304997C>GCA194441300PSAT1c.397+57C>G (n.397+57C>G)
dbSNP gnomAD v3 gnomAD v4
9g.78304998C>ACA2579362214PSAT1c.397+58C>A (n.397+58C>A)
gnomAD v4
9g.78304998C=CA1857665791PSAT1c.397+58C= (n.397+58C=)
9g.78304998C>GCA1857665792PSAT1c.397+58C>G (n.397+58C>G)
dbSNP
9g.78304998C>TCA2719694750PSAT1c.397+58C>T (n.397+58C>T)
dbSNP
9g.78304999A=CA1857665793PSAT1c.397+59A= (n.397+59A=)
9g.78304999A>GCA867185478PSAT1c.397+59A>G (n.397+59A>G)
dbSNP gnomAD v3 gnomAD v4
9g.78305000G>ACA1125768733PSAT1c.397+60G>A (n.397+60G>A)
dbSNP gnomAD v3 gnomAD v4
9g.78305000G=CA1857665794PSAT1c.397+60G= (n.397+60G=)
9g.78305000G>TCA2690397209PSAT1c.397+60G>T (n.397+60G>T)
gnomAD v4

Number of alleles fetched