Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.32140155_32140233delCA2664896506GPD1Lc.367-73_372del
c.226-73_231del
c.189-73_194del
c.250-73_255del
 gnomAD v4
3g.32140231A=CA1355573943GPD1Lc.370A= (p.Ile124=)
c.229A= (p.Ile77=)
c.192A= (p.Ala64=)
c.253A= (p.Ile85=)
3g.32140231A>CCA351974517GPD1Lc.370A>C (p.Ile124Leu)
c.229A>C (p.Ile77Leu)
c.192A>C (p.Ala64=)
c.253A>C (p.Ile85Leu)
3g.32140231A>GCA213881GPD1Lc.370A>G (p.Ile124Val)
c.229A>G (p.Ile77Val)
c.192A>G (p.Ala64=)
c.253A>G (p.Ile85Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140231A>TCA351974518GPD1Lc.370A>T (p.Ile124Leu)
c.229A>T (p.Ile77Leu)
c.192A>T (p.Ala64=)
c.253A>T (p.Ile85Leu)
3g.32140232T>ACA351974519GPD1Lc.371T>A (p.Ile124Lys)
c.230T>A (p.Ile77Lys)
c.193T>A (p.Ter65Lys)
c.254T>A (p.Ile85Lys)
3g.32140232T>CCA2296629GPD1Lc.371T>C (p.Ile124Thr)
c.230T>C (p.Ile77Thr)
c.193T>C (p.Ter65Gln)
c.254T>C (p.Ile85Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32140232T>GCA351974520GPD1Lc.371T>G (p.Ile124Arg)
c.230T>G (p.Ile77Arg)
c.193T>G (p.Ter65Glu)
c.254T>G (p.Ile85Arg)
3g.32140232T=CA1355573944GPD1Lc.371T= (p.Ile124=)
c.230T= (p.Ile77=)
c.193T= (p.Ter65=)
c.254T= (p.Ile85=)
3g.32140232_32140276dupCA2664896528GPD1Lc.371_415dup (p.Ile138_Arg139insLeuAspGluGlyProGluGlyLeuLysLeuIleSerAspIleIle)
c.230_274dup (p.Ile91_Arg92insLeuAspGluGlyProGluGlyLeuLysLeuIleSerAspIleIle)
c.193_*42dup (n.193_*42dup)
c.254_298dup (p.Ile99_Arg100insLeuAspGluGlyProGluGlyLeuLysLeuIleSerAspIleIle)
 gnomAD v4
3g.32140233A=CA1355573945GPD1Lc.372A= (p.Ile124=)
c.231A= (p.Ile77=)
c.194A= (p.Ter65=)
c.255A= (p.Ile85=)
3g.32140233A>CCA2296630GPD1Lc.372A>C (p.Ile124=)
c.231A>C (p.Ile77=)
c.194A>C (p.Ter65Ser)
c.255A>C (p.Ile85=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140233A>GCA2296631GPD1Lc.372A>G (p.Ile124Met)
c.231A>G (p.Ile77Met)
c.194A>G (p.Ter65Trp)
c.255A>G (p.Ile85Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140233A>TCA432931200GPD1Lc.372A>T (p.Ile124=)
c.231A>T (p.Ile77=)
c.194A>T (p.Ter65Leu)
c.255A>T (p.Ile85=)
3g.32140234G>ACA351974522GPD1Lc.373G>A (p.Asp125Asn)
c.232G>A (p.Asp78Asn)
c.195G>A (p.Ter65=)
c.256G>A (p.Asp86Asn)
3g.32140234G>CCA351974524GPD1Lc.373G>C (p.Asp125His)
c.232G>C (p.Asp78His)
c.195G>C (p.Ter65Tyr)
c.256G>C (p.Asp86His)
 dbSNP gnomAD v2
3g.32140234G=CA1355573946GPD1Lc.373G= (p.Asp125=)
c.232G= (p.Asp78=)
c.195G= (p.Ter65=)
c.256G= (p.Asp86=)
3g.32140234G>TCA351974525GPD1Lc.373G>T (p.Asp125Tyr)
c.232G>T (p.Asp78Tyr)
c.195G>T (p.Ter65Tyr)
c.256G>T (p.Asp86Tyr)
3g.32140235A=CA1355573947GPD1Lc.374A= (p.Asp125=)
c.233A= (p.Asp78=)
c.*1A= (n.*1A=)
c.257A= (p.Asp86=)
3g.32140235A>CCA2296632GPD1Lc.374A>C (p.Asp125Ala)
c.233A>C (p.Asp78Ala)
c.*1A>C (n.*1A>C)
c.257A>C (p.Asp86Ala)
 dbSNP ExAC
3g.32140235A>GCA351974527GPD1Lc.374A>G (p.Asp125Gly)
c.233A>G (p.Asp78Gly)
c.*1A>G (n.*1A>G)
c.257A>G (p.Asp86Gly)
3g.32140235A>TCA351974528GPD1Lc.374A>T (p.Asp125Val)
c.233A>T (p.Asp78Val)
c.*1A>T (n.*1A>T)
c.257A>T (p.Asp86Val)
3g.32140236C>ACA351974530GPD1Lc.375C>A (p.Asp125Glu)
c.234C>A (p.Asp78Glu)
c.*2C>A (n.*2C>A)
c.258C>A (p.Asp86Glu)
3g.32140236C=CA1355573949GPD1Lc.375C= (p.Asp125=)
c.234C= (p.Asp78=)
c.*2C= (n.*2C=)
c.258C= (p.Asp86=)
3g.32140236C>GCA351974532GPD1Lc.375C>G (p.Asp125Glu)
c.234C>G (p.Asp78Glu)
c.*2C>G (n.*2C>G)
c.258C>G (p.Asp86Glu)
3g.32140236C>TCA2296633GPD1Lc.375C>T (p.Asp125=)
c.234C>T (p.Asp78=)
c.*2C>T (n.*2C>T)
c.258C>T (p.Asp86=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32140236_32140237delinsCGCA1355573948GPD1Lc.375_376delinsCG (p.Asp125=)
c.234_235delinsCG (p.Asp78=)
c.*2_*3delinsCG (n.*2_*3delinsCG)
c.258_259delinsCG (p.Asp86=)
3g.32140237delCA2296634GPD1Lc.376del (p.Glu126ArgfsTer6)
c.235del (p.Glu79ArgfsTer6)
c.*3del (n.*3del)
c.259del (p.Glu87ArgfsTer6)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.32140237G>ACA351974535GPD1Lc.376G>A (p.Glu126Lys)
c.235G>A (p.Glu79Lys)
c.*3G>A (n.*3G>A)
c.259G>A (p.Glu87Lys)
 ClinVar dbSNP gnomAD v4
3g.32140237G>CCA351974537GPD1Lc.376G>C (p.Glu126Gln)
c.235G>C (p.Glu79Gln)
c.*3G>C (n.*3G>C)
c.259G>C (p.Glu87Gln)
3g.32140237G=CA1355573950GPD1Lc.376G= (p.Glu126=)
c.235G= (p.Glu79=)
c.*3G= (n.*3G=)
c.259G= (p.Glu87=)
3g.32140237G>TCA351974534GPD1Lc.376G>T (p.Glu126Ter)
c.235G>T (p.Glu79Ter)
c.*3G>T (n.*3G>T)
c.259G>T (p.Glu87Ter)
 gnomAD v4
3g.32140237dupCA2664896529GPD1Lc.376dup (p.Glu126GlyfsTer11)
c.235dup (p.Glu79GlyfsTer11)
c.*3dup (n.*3dup)
c.259dup (p.Glu87GlyfsTer11)
 gnomAD v4
3g.32140238delCA351974543GPD1Lc.377del (p.Glu126GlyfsTer6)
c.236del (p.Glu79GlyfsTer6)
c.*4del (n.*4del)
c.260del (p.Glu87GlyfsTer6)
3g.32140238A>CCA351974541GPD1Lc.377A>C (p.Glu126Ala)
c.236A>C (p.Glu79Ala)
c.*4A>C (n.*4A>C)
c.260A>C (p.Glu87Ala)
3g.32140238A>GCA351974539GPD1Lc.377A>G (p.Glu126Gly)
c.236A>G (p.Glu79Gly)
c.*4A>G (n.*4A>G)
c.260A>G (p.Glu87Gly)
3g.32140238A>TCA351974545GPD1Lc.377A>T (p.Glu126Val)
c.236A>T (p.Glu79Val)
c.*4A>T (n.*4A>T)
c.260A>T (p.Glu87Val)
3g.32140238_32140239delinsAGCA1355573951GPD1Lc.377_378delinsAG (p.Glu126=)
c.236_237delinsAG (p.Glu79=)
c.*4_*5delinsAG (n.*4_*5delinsAG)
c.260_261delinsAG (p.Glu87=)
3g.32140239G>ACA432931214GPD1Lc.378G>A (p.Glu126=)
c.237G>A (p.Glu79=)
c.*5G>A (n.*5G>A)
c.261G>A (p.Glu87=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32140239G>CCA351974546GPD1Lc.378G>C (p.Glu126Asp)
c.237G>C (p.Glu79Asp)
c.*5G>C (n.*5G>C)
c.261G>C (p.Glu87Asp)
3g.32140239G=CA1355573952GPD1Lc.378G= (p.Glu126=)
c.237G= (p.Glu79=)
c.*5G= (n.*5G=)
c.261G= (p.Glu87=)
3g.32140239G>TCA351974547GPD1Lc.378G>T (p.Glu126Asp)
c.237G>T (p.Glu79Asp)
c.*5G>T (n.*5G>T)
c.261G>T (p.Glu87Asp)
3g.32140241delCA2296635GPD1Lc.380del (p.Gly127AlafsTer5)
c.239del (p.Gly80AlafsTer5)
c.*7del (n.*7del)
c.263del (p.Gly88AlafsTer5)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32140240G>ACA351974548GPD1Lc.379G>A (p.Gly127Ser)
c.238G>A (p.Gly80Ser)
c.*6G>A (n.*6G>A)
c.262G>A (p.Gly88Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.32140240G>CCA351974549GPD1Lc.379G>C (p.Gly127Arg)
c.238G>C (p.Gly80Arg)
c.*6G>C (n.*6G>C)
c.262G>C (p.Gly88Arg)
3g.32140240G=CA1355573953GPD1Lc.379G= (p.Gly127=)
c.238G= (p.Gly80=)
c.*6G= (n.*6G=)
c.262G= (p.Gly88=)
3g.32140240G>TCA351974550GPD1Lc.379G>T (p.Gly127Cys)
c.238G>T (p.Gly80Cys)
c.*6G>T (n.*6G>T)
c.262G>T (p.Gly88Cys)
3g.32140241G>ACA351974552GPD1Lc.380G>A (p.Gly127Asp)
c.239G>A (p.Gly80Asp)
c.*7G>A (n.*7G>A)
c.263G>A (p.Gly88Asp)
3g.32140241G>CCA351974553GPD1Lc.380G>C (p.Gly127Ala)
c.239G>C (p.Gly80Ala)
c.*7G>C (n.*7G>C)
c.263G>C (p.Gly88Ala)
3g.32140241G>TCA351974554GPD1Lc.380G>T (p.Gly127Val)
c.239G>T (p.Gly80Val)
c.*7G>T (n.*7G>T)
c.263G>T (p.Gly88Val)
3g.32140242C>ACA432931224GPD1Lc.381C>A (p.Gly127=)
c.240C>A (p.Gly80=)
c.*8C>A (n.*8C>A)
c.264C>A (p.Gly88=)
3g.32140242C=CA1355573954GPD1Lc.381C= (p.Gly127=)
c.240C= (p.Gly80=)
c.*8C= (n.*8C=)
c.264C= (p.Gly88=)
3g.32140242C>GCA432931222GPD1Lc.381C>G (p.Gly127=)
c.240C>G (p.Gly80=)
c.*8C>G (n.*8C>G)
c.264C>G (p.Gly88=)
 dbSNP gnomAD v2 gnomAD v4
3g.32140242C>TCA432931223GPD1Lc.381C>T (p.Gly127=)
c.240C>T (p.Gly80=)
c.*8C>T (n.*8C>T)
c.264C>T (p.Gly88=)
 gnomAD v4
3g.32140245delCA2664896530GPD1Lc.384del (p.Glu129ArgfsTer3)
c.243del (p.Glu82ArgfsTer3)
c.*11del (n.*11del)
c.267del (p.Glu90ArgfsTer3)
 gnomAD v4
3g.32140243C>ACA351974556GPD1Lc.382C>A (p.Pro128Thr)
c.241C>A (p.Pro81Thr)
c.*9C>A (n.*9C>A)
c.265C>A (p.Pro89Thr)
 dbSNP gnomAD v3 gnomAD v4
3g.32140243C=CA1355573955GPD1Lc.382C= (p.Pro128=)
c.241C= (p.Pro81=)
c.*9C= (n.*9C=)
c.265C= (p.Pro89=)
3g.32140243C>GCA351974557GPD1Lc.382C>G (p.Pro128Ala)
c.241C>G (p.Pro81Ala)
c.*9C>G (n.*9C>G)
c.265C>G (p.Pro89Ala)
3g.32140243C>TCA351974559GPD1Lc.382C>T (p.Pro128Ser)
c.241C>T (p.Pro81Ser)
c.*9C>T (n.*9C>T)
c.265C>T (p.Pro89Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.32140244C>ACA351974561GPD1Lc.383C>A (p.Pro128His)
c.242C>A (p.Pro81His)
c.*10C>A (n.*10C>A)
c.266C>A (p.Pro89His)
 gnomAD v4
3g.32140244C=CA1355573956GPD1Lc.383C= (p.Pro128=)
c.242C= (p.Pro81=)
c.*10C= (n.*10C=)
c.266C= (p.Pro89=)
3g.32140244C>GCA351974563GPD1Lc.383C>G (p.Pro128Arg)
c.242C>G (p.Pro81Arg)
c.*10C>G (n.*10C>G)
c.266C>G (p.Pro89Arg)
3g.32140244C>TCA236683GPD1Lc.383C>T (p.Pro128Leu)
c.242C>T (p.Pro81Leu)
c.*10C>T (n.*10C>T)
c.266C>T (p.Pro89Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140245C>ACA432931231GPD1Lc.384C>A (p.Pro128=)
c.243C>A (p.Pro81=)
c.*11C>A (n.*11C>A)
c.267C>A (p.Pro89=)
3g.32140245C=CA1355573957GPD1Lc.384C= (p.Pro128=)
c.243C= (p.Pro81=)
c.*11C= (n.*11C=)
c.267C= (p.Pro89=)
3g.32140245C>GCA432931232GPD1Lc.384C>G (p.Pro128=)
c.243C>G (p.Pro81=)
c.*11C>G (n.*11C>G)
c.267C>G (p.Pro89=)
3g.32140245C>TCA2296636GPD1Lc.384C>T (p.Pro128=)
c.243C>T (p.Pro81=)
c.*11C>T (n.*11C>T)
c.267C>T (p.Pro89=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140246G>ACA2296637GPD1Lc.385G>A (p.Glu129Lys)
c.244G>A (p.Glu82Lys)
c.*12G>A (n.*12G>A)
c.268G>A (p.Glu90Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140246G>CCA351974567GPD1Lc.385G>C (p.Glu129Gln)
c.244G>C (p.Glu82Gln)
c.*12G>C (n.*12G>C)
c.268G>C (p.Glu90Gln)
3g.32140246G=CA1355573958GPD1Lc.385G= (p.Glu129=)
c.244G= (p.Glu82=)
c.*12G= (n.*12G=)
c.268G= (p.Glu90=)
3g.32140246G>TCA351974568GPD1Lc.385G>T (p.Glu129Ter)
c.244G>T (p.Glu82Ter)
c.*12G>T (n.*12G>T)
c.268G>T (p.Glu90Ter)
3g.32140247A>CCA351974570GPD1Lc.386A>C (p.Glu129Ala)
c.245A>C (p.Glu82Ala)
c.*13A>C (n.*13A>C)
c.269A>C (p.Glu90Ala)
3g.32140247A>GCA351974572GPD1Lc.386A>G (p.Glu129Gly)
c.245A>G (p.Glu82Gly)
c.*13A>G (n.*13A>G)
c.269A>G (p.Glu90Gly)
 gnomAD v4
3g.32140247A>TCA351974573GPD1Lc.386A>T (p.Glu129Val)
c.245A>T (p.Glu82Val)
c.*13A>T (n.*13A>T)
c.269A>T (p.Glu90Val)
3g.32140248G>ACA432931238GPD1Lc.387G>A (p.Glu129=)
c.246G>A (p.Glu82=)
c.*14G>A (n.*14G>A)
c.270G>A (p.Glu90=)
 gnomAD v4
3g.32140248G>CCA351974575GPD1Lc.387G>C (p.Glu129Asp)
c.246G>C (p.Glu82Asp)
c.*14G>C (n.*14G>C)
c.270G>C (p.Glu90Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.32140248G=CA1355573959GPD1Lc.387G= (p.Glu129=)
c.246G= (p.Glu82=)
c.*14G= (n.*14G=)
c.270G= (p.Glu90=)
3g.32140248G>TCA351974580GPD1Lc.387G>T (p.Glu129Asp)
c.246G>T (p.Glu82Asp)
c.*14G>T (n.*14G>T)
c.270G>T (p.Glu90Asp)
3g.32140249G>ACA351974589GPD1Lc.388G>A (p.Gly130Arg)
c.247G>A (p.Gly83Arg)
c.*15G>A (n.*15G>A)
c.271G>A (p.Gly91Arg)
3g.32140249G>CCA351974591GPD1Lc.388G>C (p.Gly130Arg)
c.247G>C (p.Gly83Arg)
c.*15G>C (n.*15G>C)
c.271G>C (p.Gly91Arg)
3g.32140249G>TCA351974585GPD1Lc.388G>T (p.Gly130Trp)
c.247G>T (p.Gly83Trp)
c.*15G>T (n.*15G>T)
c.271G>T (p.Gly91Trp)
3g.32140250G>ACA351974592GPD1Lc.389G>A (p.Gly130Glu)
c.248G>A (p.Gly83Glu)
c.*16G>A (n.*16G>A)
c.272G>A (p.Gly91Glu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.32140250G>CCA351974594GPD1Lc.389G>C (p.Gly130Ala)
c.248G>C (p.Gly83Ala)
c.*16G>C (n.*16G>C)
c.272G>C (p.Gly91Ala)
3g.32140250G=CA1355573960GPD1Lc.389G= (p.Gly130=)
c.248G= (p.Gly83=)
c.*16G= (n.*16G=)
c.272G= (p.Gly91=)
3g.32140250G>TCA351974595GPD1Lc.389G>T (p.Gly130Val)
c.248G>T (p.Gly83Val)
c.*16G>T (n.*16G>T)
c.272G>T (p.Gly91Val)
3g.32140251G>ACA432931245GPD1Lc.390G>A (p.Gly130=)
c.249G>A (p.Gly83=)
c.*17G>A (n.*17G>A)
c.273G>A (p.Gly91=)
 gnomAD v4
3g.32140251G>CCA72568464GPD1Lc.390G>C (p.Gly130=)
c.249G>C (p.Gly83=)
c.*17G>C (n.*17G>C)
c.273G>C (p.Gly91=)
 dbSNP gnomAD v4
3g.32140251G=CA1355573961GPD1Lc.390G= (p.Gly130=)
c.249G= (p.Gly83=)
c.*17G= (n.*17G=)
c.273G= (p.Gly91=)
3g.32140251G>TCA432931247GPD1Lc.390G>T (p.Gly130=)
c.249G>T (p.Gly83=)
c.*17G>T (n.*17G>T)
c.273G>T (p.Gly91=)
3g.32140252C>ACA351974598GPD1Lc.391C>A (p.Leu131Met)
c.250C>A (p.Leu84Met)
c.*18C>A (n.*18C>A)
c.274C>A (p.Leu92Met)
 ClinVar dbSNP gnomAD v4
3g.32140252C=CA1355573962GPD1Lc.391C= (p.Leu131=)
c.250C= (p.Leu84=)
c.*18C= (n.*18C=)
c.274C= (p.Leu92=)
3g.32140252C>GCA351974600GPD1Lc.391C>G (p.Leu131Val)
c.250C>G (p.Leu84Val)
c.*18C>G (n.*18C>G)
c.274C>G (p.Leu92Val)
3g.32140252C>TCA432931250GPD1Lc.391C>T (p.Leu131=)
c.250C>T (p.Leu84=)
c.*18C>T (n.*18C>T)
c.274C>T (p.Leu92=)
3g.32140253T>ACA351974604GPD1Lc.392T>A (p.Leu131Gln)
c.251T>A (p.Leu84Gln)
c.*19T>A (n.*19T>A)
c.275T>A (p.Leu92Gln)
3g.32140253T>CCA351974607GPD1Lc.392T>C (p.Leu131Pro)
c.251T>C (p.Leu84Pro)
c.*19T>C (n.*19T>C)
c.275T>C (p.Leu92Pro)
3g.32140253T>GCA72568468GPD1Lc.392T>G (p.Leu131Arg)
c.251T>G (p.Leu84Arg)
c.*19T>G (n.*19T>G)
c.275T>G (p.Leu92Arg)
 dbSNP
3g.32140253T=CA1355573963GPD1Lc.392T= (p.Leu131=)
c.251T= (p.Leu84=)
c.*19T= (n.*19T=)
c.275T= (p.Leu92=)
3g.32140254G>ACA2296638GPD1Lc.393G>A (p.Leu131=)
c.252G>A (p.Leu84=)
c.*20G>A (n.*20G>A)
c.276G>A (p.Leu92=)
 dbSNP ExAC gnomAD v2 COSMIC
3g.32140254G>CCA432931255GPD1Lc.393G>C (p.Leu131=)
c.252G>C (p.Leu84=)
c.*20G>C (n.*20G>C)
c.276G>C (p.Leu92=)
3g.32140254G=CA1355573964GPD1Lc.393G= (p.Leu131=)
c.252G= (p.Leu84=)
c.*20G= (n.*20G=)
c.276G= (p.Leu92=)
3g.32140254G>TCA432931256GPD1Lc.393G>T (p.Leu131=)
c.252G>T (p.Leu84=)
c.*20G>T (n.*20G>T)
c.276G>T (p.Leu92=)
3g.32140255A>CCA351974608GPD1Lc.394A>C (p.Lys132Gln)
c.253A>C (p.Lys85Gln)
c.*21A>C (n.*21A>C)
c.277A>C (p.Lys93Gln)
3g.32140255A>GCA351974609GPD1Lc.394A>G (p.Lys132Glu)
c.253A>G (p.Lys85Glu)
c.*21A>G (n.*21A>G)
c.277A>G (p.Lys93Glu)
3g.32140255A>TCA351974610GPD1Lc.394A>T (p.Lys132Ter)
c.253A>T (p.Lys85Ter)
c.*21A>T (n.*21A>T)
c.277A>T (p.Lys93Ter)
3g.32140256delCA2664896531GPD1Lc.395del (p.Lys132SerfsTer18)
c.254del (p.Lys85SerfsTer18)
c.*22del (n.*22del)
c.278del (p.Lys93SerfsTer18)
 gnomAD v4
3g.32140256A>CCA351974611GPD1Lc.395A>C (p.Lys132Thr)
c.254A>C (p.Lys85Thr)
c.*22A>C (n.*22A>C)
c.278A>C (p.Lys93Thr)
3g.32140256A>GCA351974615GPD1Lc.395A>G (p.Lys132Arg)
c.254A>G (p.Lys85Arg)
c.*22A>G (n.*22A>G)
c.278A>G (p.Lys93Arg)
 gnomAD v4
3g.32140256A>TCA351974612GPD1Lc.395A>T (p.Lys132Met)
c.254A>T (p.Lys85Met)
c.*22A>T (n.*22A>T)
c.278A>T (p.Lys93Met)
3g.32140257G>ACA334807GPD1Lc.396G>A (p.Lys132=)
c.255G>A (p.Lys85=)
c.*23G>A (n.*23G>A)
c.279G>A (p.Lys93=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140257G>CCA351974617GPD1Lc.396G>C (p.Lys132Asn)
c.255G>C (p.Lys85Asn)
c.*23G>C (n.*23G>C)
c.279G>C (p.Lys93Asn)
3g.32140257G=CA1355573965GPD1Lc.396G= (p.Lys132=)
c.255G= (p.Lys85=)
c.*23G= (n.*23G=)
c.279G= (p.Lys93=)
3g.32140257G>TCA351974620GPD1Lc.396G>T (p.Lys132Asn)
c.255G>T (p.Lys85Asn)
c.*23G>T (n.*23G>T)
c.279G>T (p.Lys93Asn)
3g.32140258C>ACA351974622GPD1Lc.397C>A (p.Leu133Ile)
c.256C>A (p.Leu86Ile)
c.*24C>A (n.*24C>A)
c.280C>A (p.Leu94Ile)
3g.32140258C>GCA351974627GPD1Lc.397C>G (p.Leu133Val)
c.256C>G (p.Leu86Val)
c.*24C>G (n.*24C>G)
c.280C>G (p.Leu94Val)
3g.32140258C>TCA351974629GPD1Lc.397C>T (p.Leu133Phe)
c.256C>T (p.Leu86Phe)
c.*24C>T (n.*24C>T)
c.280C>T (p.Leu94Phe)
3g.32140259T>ACA351974631GPD1Lc.398T>A (p.Leu133His)
c.257T>A (p.Leu86His)
c.*25T>A (n.*25T>A)
c.281T>A (p.Leu94His)
3g.32140259T>CCA351974633GPD1Lc.398T>C (p.Leu133Pro)
c.257T>C (p.Leu86Pro)
c.*25T>C (n.*25T>C)
c.281T>C (p.Leu94Pro)
3g.32140259T>GCA351974635GPD1Lc.398T>G (p.Leu133Arg)
c.257T>G (p.Leu86Arg)
c.*25T>G (n.*25T>G)
c.281T>G (p.Leu94Arg)
3g.32140260C>ACA432931268GPD1Lc.399C>A (p.Leu133=)
c.258C>A (p.Leu86=)
c.*26C>A (n.*26C>A)
c.282C>A (p.Leu94=)
3g.32140260C>GCA432931272GPD1Lc.399C>G (p.Leu133=)
c.258C>G (p.Leu86=)
c.*26C>G (n.*26C>G)
c.282C>G (p.Leu94=)
3g.32140260C>TCA432931269GPD1Lc.399C>T (p.Leu133=)
c.258C>T (p.Leu86=)
c.*26C>T (n.*26C>T)
c.282C>T (p.Leu94=)
 COSMIC
3g.32140261A=CA1355573966GPD1Lc.400A= (p.Ile134=)
c.259A= (p.Ile87=)
c.*27A= (n.*27A=)
c.283A= (p.Ile95=)
3g.32140261A>CCA351974637GPD1Lc.400A>C (p.Ile134Leu)
c.259A>C (p.Ile87Leu)
c.*27A>C (n.*27A>C)
c.283A>C (p.Ile95Leu)
3g.32140261A>GCA351974639GPD1Lc.400A>G (p.Ile134Val)
c.259A>G (p.Ile87Val)
c.*27A>G (n.*27A>G)
c.283A>G (p.Ile95Val)
 ClinVar gnomAD v4 COSMIC
3g.32140261A>TCA2296639GPD1Lc.400A>T (p.Ile134Phe)
c.259A>T (p.Ile87Phe)
c.*27A>T (n.*27A>T)
c.283A>T (p.Ile95Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140262T>ACA351974645GPD1Lc.401T>A (p.Ile134Asn)
c.260T>A (p.Ile87Asn)
c.*28T>A (n.*28T>A)
c.284T>A (p.Ile95Asn)
3g.32140262T>CCA351974646GPD1Lc.401T>C (p.Ile134Thr)
c.260T>C (p.Ile87Thr)
c.*28T>C (n.*28T>C)
c.284T>C (p.Ile95Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32140262T>GCA351974643GPD1Lc.401T>G (p.Ile134Ser)
c.260T>G (p.Ile87Ser)
c.*28T>G (n.*28T>G)
c.284T>G (p.Ile95Ser)
3g.32140262T=CA1355573967GPD1Lc.401T= (p.Ile134=)
c.260T= (p.Ile87=)
c.*28T= (n.*28T=)
c.284T= (p.Ile95=)
3g.32140263T>ACA432931280GPD1Lc.402T>A (p.Ile134=)
c.261T>A (p.Ile87=)
c.*29T>A (n.*29T>A)
c.285T>A (p.Ile95=)
3g.32140263T>CCA432931278GPD1Lc.402T>C (p.Ile134=)
c.261T>C (p.Ile87=)
c.*29T>C (n.*29T>C)
c.285T>C (p.Ile95=)
3g.32140263T>GCA351974648GPD1Lc.402T>G (p.Ile134Met)
c.261T>G (p.Ile87Met)
c.*29T>G (n.*29T>G)
c.285T>G (p.Ile95Met)
3g.32140264T>ACA351974649GPD1Lc.403T>A (p.Ser135Thr)
c.262T>A (p.Ser88Thr)
c.*30T>A (n.*30T>A)
c.286T>A (p.Ser96Thr)
3g.32140264T>CCA351974650GPD1Lc.403T>C (p.Ser135Pro)
c.262T>C (p.Ser88Pro)
c.*30T>C (n.*30T>C)
c.286T>C (p.Ser96Pro)
3g.32140264T>GCA351974652GPD1Lc.403T>G (p.Ser135Ala)
c.262T>G (p.Ser88Ala)
c.*30T>G (n.*30T>G)
c.286T>G (p.Ser96Ala)
3g.32140265C>ACA351974654GPD1Lc.404C>A (p.Ser135Tyr)
c.263C>A (p.Ser88Tyr)
c.*31C>A (n.*31C>A)
c.287C>A (p.Ser96Tyr)
3g.32140265C>GCA351974655GPD1Lc.404C>G (p.Ser135Cys)
c.263C>G (p.Ser88Cys)
c.*31C>G (n.*31C>G)
c.287C>G (p.Ser96Cys)
3g.32140265C>TCA351974657GPD1Lc.404C>T (p.Ser135Phe)
c.263C>T (p.Ser88Phe)
c.*31C>T (n.*31C>T)
c.287C>T (p.Ser96Phe)
3g.32140266T>ACA432931283GPD1Lc.405T>A (p.Ser135=)
c.264T>A (p.Ser88=)
c.*32T>A (n.*32T>A)
c.288T>A (p.Ser96=)
3g.32140266T>CCA432931287GPD1Lc.405T>C (p.Ser135=)
c.264T>C (p.Ser88=)
c.*32T>C (n.*32T>C)
c.288T>C (p.Ser96=)
3g.32140266T>GCA432931285GPD1Lc.405T>G (p.Ser135=)
c.264T>G (p.Ser88=)
c.*32T>G (n.*32T>G)
c.288T>G (p.Ser96=)
3g.32140267G>ACA2296640GPD1Lc.406G>A (p.Asp136Asn)
c.265G>A (p.Asp89Asn)
c.*33G>A (n.*33G>A)
c.289G>A (p.Asp97Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32140267G>CCA351974658GPD1Lc.406G>C (p.Asp136His)
c.265G>C (p.Asp89His)
c.*33G>C (n.*33G>C)
c.289G>C (p.Asp97His)
3g.32140267G=CA1355573968GPD1Lc.406G= (p.Asp136=)
c.265G= (p.Asp89=)
c.*33G= (n.*33G=)
c.289G= (p.Asp97=)
3g.32140267G>TCA351974659GPD1Lc.406G>T (p.Asp136Tyr)
c.265G>T (p.Asp89Tyr)
c.*33G>T (n.*33G>T)
c.289G>T (p.Asp97Tyr)
3g.32140268A>CCA351974661GPD1Lc.407A>C (p.Asp136Ala)
c.266A>C (p.Asp89Ala)
c.*34A>C (n.*34A>C)
c.290A>C (p.Asp97Ala)
3g.32140268A>GCA351974664GPD1Lc.407A>G (p.Asp136Gly)
c.266A>G (p.Asp89Gly)
c.*34A>G (n.*34A>G)
c.290A>G (p.Asp97Gly)
 gnomAD v4
3g.32140268A>TCA351974666GPD1Lc.407A>T (p.Asp136Val)
c.266A>T (p.Asp89Val)
c.*34A>T (n.*34A>T)
c.290A>T (p.Asp97Val)
3g.32140269C>ACA351974670GPD1Lc.408C>A (p.Asp136Glu)
c.267C>A (p.Asp89Glu)
c.*35C>A (n.*35C>A)
c.291C>A (p.Asp97Glu)
3g.32140269C=CA1355573969GPD1Lc.408C= (p.Asp136=)
c.267C= (p.Asp89=)
c.*35C= (n.*35C=)
c.291C= (p.Asp97=)
3g.32140269C>GCA351974669GPD1Lc.408C>G (p.Asp136Glu)
c.267C>G (p.Asp89Glu)
c.*35C>G (n.*35C>G)
c.291C>G (p.Asp97Glu)
3g.32140269C>TCA2296641GPD1Lc.408C>T (p.Asp136=)
c.267C>T (p.Asp89=)
c.*35C>T (n.*35C>T)
c.291C>T (p.Asp97=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140270A=CA1355573970GPD1Lc.409A= (p.Ile137=)
c.268A= (p.Ile90=)
c.*36A= (n.*36A=)
c.292A= (p.Ile98=)
3g.32140270A>CCA351974671GPD1Lc.409A>C (p.Ile137Leu)
c.268A>C (p.Ile90Leu)
c.*36A>C (n.*36A>C)
c.292A>C (p.Ile98Leu)
3g.32140270A>GCA351974672GPD1Lc.409A>G (p.Ile137Val)
c.268A>G (p.Ile90Val)
c.*36A>G (n.*36A>G)
c.292A>G (p.Ile98Val)
3g.32140270A>TCA2296642GPD1Lc.409A>T (p.Ile137Phe)
c.268A>T (p.Ile90Phe)
c.*36A>T (n.*36A>T)
c.292A>T (p.Ile98Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32140271T>ACA351974673GPD1Lc.410T>A (p.Ile137Asn)
c.269T>A (p.Ile90Asn)
c.*37T>A (n.*37T>A)
c.293T>A (p.Ile98Asn)
3g.32140271T>CCA351974675GPD1Lc.410T>C (p.Ile137Thr)
c.269T>C (p.Ile90Thr)
c.*37T>C (n.*37T>C)
c.293T>C (p.Ile98Thr)
3g.32140271T>GCA351974676GPD1Lc.410T>G (p.Ile137Ser)
c.269T>G (p.Ile90Ser)
c.*37T>G (n.*37T>G)
c.293T>G (p.Ile98Ser)
3g.32140272C>ACA432931296GPD1Lc.411C>A (p.Ile137=)
c.270C>A (p.Ile90=)
c.*38C>A (n.*38C>A)
c.294C>A (p.Ile98=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.32140272C=CA1355573971GPD1Lc.411C= (p.Ile137=)
c.270C= (p.Ile90=)
c.*38C= (n.*38C=)
c.294C= (p.Ile98=)
3g.32140272C>GCA351974680GPD1Lc.411C>G (p.Ile137Met)
c.270C>G (p.Ile90Met)
c.*38C>G (n.*38C>G)
c.294C>G (p.Ile98Met)
3g.32140272C>TCA432931298GPD1Lc.411C>T (p.Ile137=)
c.270C>T (p.Ile90=)
c.*38C>T (n.*38C>T)
c.294C>T (p.Ile98=)
 dbSNP gnomAD v2 gnomAD v4
3g.32140273A>CCA351974682GPD1Lc.412A>C (p.Ile138Leu)
c.271A>C (p.Ile91Leu)
c.*39A>C (n.*39A>C)
c.295A>C (p.Ile99Leu)
3g.32140273A>GCA351974683GPD1Lc.412A>G (p.Ile138Val)
c.271A>G (p.Ile91Val)
c.*39A>G (n.*39A>G)
c.295A>G (p.Ile99Val)
3g.32140273A>TCA351974684GPD1Lc.412A>T (p.Ile138Phe)
c.271A>T (p.Ile91Phe)
c.*39A>T (n.*39A>T)
c.295A>T (p.Ile99Phe)
3g.32140274T>ACA351974686GPD1Lc.413T>A (p.Ile138Asn)
c.272T>A (p.Ile91Asn)
c.*40T>A (n.*40T>A)
c.296T>A (p.Ile99Asn)
3g.32140274T>CCA351974689GPD1Lc.413T>C (p.Ile138Thr)
c.272T>C (p.Ile91Thr)
c.*40T>C (n.*40T>C)
c.296T>C (p.Ile99Thr)
3g.32140274T>GCA351974691GPD1Lc.413T>G (p.Ile138Ser)
c.272T>G (p.Ile91Ser)
c.*40T>G (n.*40T>G)
c.296T>G (p.Ile99Ser)
3g.32140275C>ACA432931304GPD1Lc.414C>A (p.Ile138=)
c.273C>A (p.Ile91=)
c.*41C>A (n.*41C>A)
c.297C>A (p.Ile99=)
3g.32140275C>GCA351974693GPD1Lc.414C>G (p.Ile138Met)
c.273C>G (p.Ile91Met)
c.*41C>G (n.*41C>G)
c.297C>G (p.Ile99Met)
 ClinVar
3g.32140275C>TCA432931305GPD1Lc.414C>T (p.Ile138=)
c.273C>T (p.Ile91=)
c.*41C>T (n.*41C>T)
c.297C>T (p.Ile99=)
 COSMIC
3g.32140276C>ACA351974696GPD1Lc.415C>A (p.Arg139Ser)
c.274C>A (p.Arg92Ser)
c.*42C>A (n.*42C>A)
c.298C>A (p.Arg100Ser)
3g.32140276C=CA1355573972GPD1Lc.415C= (p.Arg139=)
c.274C= (p.Arg92=)
c.*42C= (n.*42C=)
c.298C= (p.Arg100=)
3g.32140276C>GCA351974698GPD1Lc.415C>G (p.Arg139Gly)
c.274C>G (p.Arg92Gly)
c.*42C>G (n.*42C>G)
c.298C>G (p.Arg100Gly)
3g.32140276C>TCA236686GPD1Lc.415C>T (p.Arg139Cys)
c.274C>T (p.Arg92Cys)
c.*42C>T (n.*42C>T)
c.298C>T (p.Arg100Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140277G>ACA2296643GPD1Lc.416G>A (p.Arg139His)
c.275G>A (p.Arg92His)
c.*43G>A (n.*43G>A)
c.299G>A (p.Arg100His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.32140277G>CCA351974700GPD1Lc.416G>C (p.Arg139Pro)
c.275G>C (p.Arg92Pro)
c.*43G>C (n.*43G>C)
c.299G>C (p.Arg100Pro)
3g.32140277G=CA1355573973GPD1Lc.416G= (p.Arg139=)
c.275G= (p.Arg92=)
c.*43G= (n.*43G=)
c.299G= (p.Arg100=)
3g.32140277G>TCA351974702GPD1Lc.416G>T (p.Arg139Leu)
c.275G>T (p.Arg92Leu)
c.*43G>T (n.*43G>T)
c.299G>T (p.Arg100Leu)
 ClinVar gnomAD v4
3g.32140278T>ACA432931311GPD1Lc.417T>A (p.Arg139=)
c.276T>A (p.Arg92=)
c.*44T>A (n.*44T>A)
c.300T>A (p.Arg100=)
3g.32140278T>CCA432931312GPD1Lc.417T>C (p.Arg139=)
c.276T>C (p.Arg92=)
c.*44T>C (n.*44T>C)
c.300T>C (p.Arg100=)
 dbSNP gnomAD v4
3g.32140278T>GCA432931313GPD1Lc.417T>G (p.Arg139=)
c.276T>G (p.Arg92=)
c.*44T>G (n.*44T>G)
c.300T>G (p.Arg100=)
 gnomAD v4
3g.32140278T=CA1355573974GPD1Lc.417T= (p.Arg139=)
c.276T= (p.Arg92=)
c.*44T= (n.*44T=)
c.300T= (p.Arg100=)
3g.32140279G>ACA351974704GPD1Lc.418G>A (p.Glu140Lys)
c.277G>A (p.Glu93Lys)
c.*45G>A (n.*45G>A)
c.301G>A (p.Glu101Lys)
3g.32140279G>CCA351974705GPD1Lc.418G>C (p.Glu140Gln)
c.277G>C (p.Glu93Gln)
c.*45G>C (n.*45G>C)
c.301G>C (p.Glu101Gln)
3g.32140279G>TCA351974707GPD1Lc.418G>T (p.Glu140Ter)
c.277G>T (p.Glu93Ter)
c.*45G>T (n.*45G>T)
c.301G>T (p.Glu101Ter)
3g.32140280A>CCA351974711GPD1Lc.419A>C (p.Glu140Ala)
c.278A>C (p.Glu93Ala)
c.*46A>C (n.*46A>C)
c.302A>C (p.Glu101Ala)
3g.32140280A>GCA351974709GPD1Lc.419A>G (p.Glu140Gly)
c.278A>G (p.Glu93Gly)
c.*46A>G (n.*46A>G)
c.302A>G (p.Glu101Gly)
3g.32140280A>TCA351974710GPD1Lc.419A>T (p.Glu140Val)
c.278A>T (p.Glu93Val)
c.*46A>T (n.*46A>T)
c.302A>T (p.Glu101Val)
3g.32140281G>ACA432931319GPD1Lc.420G>A (p.Glu140=)
c.279G>A (p.Glu93=)
c.*47G>A (n.*47G>A)
c.303G>A (p.Glu101=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32140281G>CCA351974712GPD1Lc.420G>C (p.Glu140Asp)
c.279G>C (p.Glu93Asp)
c.*47G>C (n.*47G>C)
c.303G>C (p.Glu101Asp)
3g.32140281G=CA1355573975GPD1Lc.420G= (p.Glu140=)
c.279G= (p.Glu93=)
c.*47G= (n.*47G=)
c.303G= (p.Glu101=)
3g.32140281G>TCA351974714GPD1Lc.420G>T (p.Glu140Asp)
c.279G>T (p.Glu93Asp)
c.*47G>T (n.*47G>T)
c.303G>T (p.Glu101Asp)
3g.32140281_32140289delCA2664896532GPD1Lc.420_428del (p.Glu140_Gly143delinsAsp)
c.279_287del (p.Glu93_Gly96delinsAsp)
c.*47_*55del (n.*47_*55del)
c.303_311del (p.Glu101_Gly104delinsAsp)
 gnomAD v4
3g.32140282A>CCA351974717GPD1Lc.421A>C (p.Lys141Gln)
c.280A>C (p.Lys94Gln)
c.*48A>C (n.*48A>C)
c.304A>C (p.Lys102Gln)
3g.32140282A>GCA351974719GPD1Lc.421A>G (p.Lys141Glu)
c.280A>G (p.Lys94Glu)
c.*48A>G (n.*48A>G)
c.304A>G (p.Lys102Glu)
3g.32140282A>TCA351974720GPD1Lc.421A>T (p.Lys141Ter)
c.280A>T (p.Lys94Ter)
c.*48A>T (n.*48A>T)
c.304A>T (p.Lys102Ter)
3g.32140282_32140284delinsAAGCA1355573976GPD1Lc.421_423delinsAAG (p.Lys141=)
c.280_282delinsAAG (p.Lys94=)
c.*48_*50delinsAAG (n.*48_*50delinsAAG)
c.304_306delinsAAG (p.Lys102=)
3g.32140283A>CCA351974721GPD1Lc.422A>C (p.Lys141Thr)
c.281A>C (p.Lys94Thr)
c.*49A>C (n.*49A>C)
c.305A>C (p.Lys102Thr)
3g.32140283A>GCA351974727GPD1Lc.422A>G (p.Lys141Arg)
c.281A>G (p.Lys94Arg)
c.*49A>G (n.*49A>G)
c.305A>G (p.Lys102Arg)
3g.32140283A>TCA351974723GPD1Lc.422A>T (p.Lys141Met)
c.281A>T (p.Lys94Met)
c.*49A>T (n.*49A>T)
c.305A>T (p.Lys102Met)
3g.32140284_32140285delCA1355573977GPD1Lc.423_424del (p.Lys141AsnfsTer4)
c.282_283del (p.Lys94AsnfsTer4)
c.*50_*51del (n.*50_*51del)
c.306_307del (p.Lys102AsnfsTer4)
 dbSNP
3g.32140284G>ACA432931327GPD1Lc.423G>A (p.Lys141=)
c.282G>A (p.Lys94=)
c.*50G>A (n.*50G>A)
c.306G>A (p.Lys102=)
 dbSNP
3g.32140284G>CCA351974729GPD1Lc.423G>C (p.Lys141Asn)
c.282G>C (p.Lys94Asn)
c.*50G>C (n.*50G>C)
c.306G>C (p.Lys102Asn)
3g.32140284G=CA1355573978GPD1Lc.423G= (p.Lys141=)
c.282G= (p.Lys94=)
c.*50G= (n.*50G=)
c.306G= (p.Lys102=)
3g.32140284G>TCA351974730GPD1Lc.423G>T (p.Lys141Asn)
c.282G>T (p.Lys94Asn)
c.*50G>T (n.*50G>T)
c.306G>T (p.Lys102Asn)
3g.32140285A>CCA351974731GPD1Lc.424A>C (p.Met142Leu)
c.283A>C (p.Met95Leu)
c.*51A>C (n.*51A>C)
c.307A>C (p.Met103Leu)
3g.32140285A>GCA351974732GPD1Lc.424A>G (p.Met142Val)
c.283A>G (p.Met95Val)
c.*51A>G (n.*51A>G)
c.307A>G (p.Met103Val)
 gnomAD v4
3g.32140285A>TCA351974734GPD1Lc.424A>T (p.Met142Leu)
c.283A>T (p.Met95Leu)
c.*51A>T (n.*51A>T)
c.307A>T (p.Met103Leu)
3g.32140286T>ACA351974735GPD1Lc.425T>A (p.Met142Lys)
c.284T>A (p.Met95Lys)
c.*52T>A (n.*52T>A)
c.308T>A (p.Met103Lys)
3g.32140286T>CCA351974737GPD1Lc.425T>C (p.Met142Thr)
c.284T>C (p.Met95Thr)
c.*52T>C (n.*52T>C)
c.308T>C (p.Met103Thr)
 dbSNP
3g.32140286T>GCA351974739GPD1Lc.425T>G (p.Met142Arg)
c.284T>G (p.Met95Arg)
c.*52T>G (n.*52T>G)
c.308T>G (p.Met103Arg)
3g.32140286T=CA1355573979GPD1Lc.425T= (p.Met142=)
c.284T= (p.Met95=)
c.*52T= (n.*52T=)
c.308T= (p.Met103=)
3g.32140287G>ACA351974745GPD1Lc.426G>A (p.Met142Ile)
c.285G>A (p.Met95Ile)
c.*53G>A (n.*53G>A)
c.309G>A (p.Met103Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32140287G>CCA351974749GPD1Lc.426G>C (p.Met142Ile)
c.285G>C (p.Met95Ile)
c.*53G>C (n.*53G>C)
c.309G>C (p.Met103Ile)
3g.32140287G=CA1355573980GPD1Lc.426G= (p.Met142=)
c.285G= (p.Met95=)
c.*53G= (n.*53G=)
c.309G= (p.Met103=)
3g.32140287G>TCA351974750GPD1Lc.426G>T (p.Met142Ile)
c.285G>T (p.Met95Ile)
c.*53G>T (n.*53G>T)
c.309G>T (p.Met103Ile)
3g.32140288G>ACA351974753GPD1Lc.427G>A (p.Gly143Ser)
c.286G>A (p.Gly96Ser)
c.*54G>A (n.*54G>A)
c.310G>A (p.Gly104Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.32140288G>CCA2296644GPD1Lc.427G>C (p.Gly143Arg)
c.286G>C (p.Gly96Arg)
c.*54G>C (n.*54G>C)
c.310G>C (p.Gly104Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32140288G=CA1355573981GPD1Lc.427G= (p.Gly143=)
c.286G= (p.Gly96=)
c.*54G= (n.*54G=)
c.310G= (p.Gly104=)
3g.32140288G>TCA351974751GPD1Lc.427G>T (p.Gly143Cys)
c.286G>T (p.Gly96Cys)
c.*54G>T (n.*54G>T)
c.310G>T (p.Gly104Cys)
3g.32140289G>ACA351974754GPD1Lc.428G>A (p.Gly143Asp)
c.287G>A (p.Gly96Asp)
c.*55G>A (n.*55G>A)
c.311G>A (p.Gly104Asp)
 gnomAD v4
3g.32140289G>CCA351974755GPD1Lc.428G>C (p.Gly143Ala)
c.287G>C (p.Gly96Ala)
c.*55G>C (n.*55G>C)
c.311G>C (p.Gly104Ala)
 ClinVar dbSNP
3g.32140289G=CA1355573982GPD1Lc.428G= (p.Gly143=)
c.287G= (p.Gly96=)
c.*55G= (n.*55G=)
c.311G= (p.Gly104=)
3g.32140289G>TCA72568496GPD1Lc.428G>T (p.Gly143Val)
c.287G>T (p.Gly96Val)
c.*55G>T (n.*55G>T)
c.311G>T (p.Gly104Val)
 dbSNP gnomAD v4
3g.32140290T>ACA432931337GPD1Lc.429T>A (p.Gly143=)
c.288T>A (p.Gly96=)
c.*56T>A (n.*56T>A)
c.312T>A (p.Gly104=)
3g.32140290T>CCA432931338GPD1Lc.429T>C (p.Gly143=)
c.288T>C (p.Gly96=)
c.*56T>C (n.*56T>C)
c.312T>C (p.Gly104=)
3g.32140290T>GCA432931339GPD1Lc.429T>G (p.Gly143=)
c.288T>G (p.Gly96=)
c.*56T>G (n.*56T>G)
c.312T>G (p.Gly104=)
3g.32140291A>CCA351974756GPD1Lc.430A>C (p.Ile144Leu)
c.289A>C (p.Ile97Leu)
c.*57A>C (n.*57A>C)
c.313A>C (p.Ile105Leu)
3g.32140291A>GCA351974757GPD1Lc.430A>G (p.Ile144Val)
c.289A>G (p.Ile97Val)
c.*57A>G (n.*57A>G)
c.313A>G (p.Ile105Val)
 gnomAD v4
3g.32140291A>TCA351974758GPD1Lc.430A>T (p.Ile144Phe)
c.289A>T (p.Ile97Phe)
c.*57A>T (n.*57A>T)
c.313A>T (p.Ile105Phe)
 gnomAD v4
3g.32140292T>ACA351974760GPD1Lc.431T>A (p.Ile144Asn)
c.290T>A (p.Ile97Asn)
c.*58T>A (n.*58T>A)
c.314T>A (p.Ile105Asn)
3g.32140292T>CCA351974761GPD1Lc.431T>C (p.Ile144Thr)
c.290T>C (p.Ile97Thr)
c.*58T>C (n.*58T>C)
c.314T>C (p.Ile105Thr)
3g.32140292T>GCA351974763GPD1Lc.431T>G (p.Ile144Ser)
c.290T>G (p.Ile97Ser)
c.*58T>G (n.*58T>G)
c.314T>G (p.Ile105Ser)
3g.32140292_32140293insCCA2664896533GPD1Lc.431_432insC (p.Asp145Ter)
c.290_291insC (p.Asp98Ter)
c.*58_*59insC (n.*58_*59insC)
c.314_315insC (p.Asp106Ter)
 gnomAD v4
3g.32140293T>ACA432931340GPD1Lc.432T>A (p.Ile144=)
c.291T>A (p.Ile97=)
c.*59T>A (n.*59T>A)
c.315T>A (p.Ile105=)
3g.32140293T>CCA432931341GPD1Lc.432T>C (p.Ile144=)
c.291T>C (p.Ile97=)
c.*59T>C (n.*59T>C)
c.315T>C (p.Ile105=)
3g.32140293T>GCA2296645GPD1Lc.432T>G (p.Ile144Met)
c.291T>G (p.Ile97Met)
c.*59T>G (n.*59T>G)
c.315T>G (p.Ile105Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140293T=CA1355573983GPD1Lc.432T= (p.Ile144=)
c.291T= (p.Ile97=)
c.*59T= (n.*59T=)
c.315T= (p.Ile105=)
3g.32140294G>ACA351974764GPD1Lc.433G>A (p.Asp145Asn)
c.292G>A (p.Asp98Asn)
c.*60G>A (n.*60G>A)
c.316G>A (p.Asp106Asn)
 dbSNP gnomAD v4
3g.32140294G>CCA351974765GPD1Lc.433G>C (p.Asp145His)
c.292G>C (p.Asp98His)
c.*60G>C (n.*60G>C)
c.316G>C (p.Asp106His)
3g.32140294G=CA1355573984GPD1Lc.433G= (p.Asp145=)
c.292G= (p.Asp98=)
c.*60G= (n.*60G=)
c.316G= (p.Asp106=)
3g.32140294G>TCA351974766GPD1Lc.433G>T (p.Asp145Tyr)
c.292G>T (p.Asp98Tyr)
c.*60G>T (n.*60G>T)
c.316G>T (p.Asp106Tyr)
3g.32140295A>CCA351974767GPD1Lc.434A>C (p.Asp145Ala)
c.293A>C (p.Asp98Ala)
c.*61A>C (n.*61A>C)
c.317A>C (p.Asp106Ala)
 gnomAD v4
3g.32140295A>GCA351974768GPD1Lc.434A>G (p.Asp145Gly)
c.293A>G (p.Asp98Gly)
c.*61A>G (n.*61A>G)
c.317A>G (p.Asp106Gly)
3g.32140295A>TCA351974770GPD1Lc.434A>T (p.Asp145Val)
c.293A>T (p.Asp98Val)
c.*61A>T (n.*61A>T)
c.317A>T (p.Asp106Val)
3g.32140296C>ACA351974774GPD1Lc.435C>A (p.Asp145Glu)
c.294C>A (p.Asp98Glu)
c.*62C>A (n.*62C>A)
c.318C>A (p.Asp106Glu)
3g.32140296C=CA1355573985GPD1Lc.435C= (p.Asp145=)
c.294C= (p.Asp98=)
c.*62C= (n.*62C=)
c.318C= (p.Asp106=)
3g.32140296C>GCA351974772GPD1Lc.435C>G (p.Asp145Glu)
c.294C>G (p.Asp98Glu)
c.*62C>G (n.*62C>G)
c.318C>G (p.Asp106Glu)
3g.32140296C>TCA432931342GPD1Lc.435C>T (p.Asp145=)
c.294C>T (p.Asp98=)
c.*62C>T (n.*62C>T)
c.318C>T (p.Asp106=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.32140297A=CA1355573986GPD1Lc.436A= (p.Ile146=)
c.295A= (p.Ile99=)
c.*63A= (n.*63A=)
c.319A= (p.Ile107=)
3g.32140297A>CCA351974775GPD1Lc.436A>C (p.Ile146Leu)
c.295A>C (p.Ile99Leu)
c.*63A>C (n.*63A>C)
c.319A>C (p.Ile107Leu)
3g.32140297A>GCA351974777GPD1Lc.436A>G (p.Ile146Val)
c.295A>G (p.Ile99Val)
c.*63A>G (n.*63A>G)
c.319A>G (p.Ile107Val)
 dbSNP gnomAD v4
3g.32140297A>TCA351974779GPD1Lc.436A>T (p.Ile146Phe)
c.295A>T (p.Ile99Phe)
c.*63A>T (n.*63A>T)
c.319A>T (p.Ile107Phe)
3g.32140298T>ACA351974781GPD1Lc.437T>A (p.Ile146Asn)
c.296T>A (p.Ile99Asn)
c.*64T>A (n.*64T>A)
c.320T>A (p.Ile107Asn)
3g.32140298T>CCA351974783GPD1Lc.437T>C (p.Ile146Thr)
c.296T>C (p.Ile99Thr)
c.*64T>C (n.*64T>C)
c.320T>C (p.Ile107Thr)
 dbSNP gnomAD v4
3g.32140298T>GCA351974784GPD1Lc.437T>G (p.Ile146Ser)
c.296T>G (p.Ile99Ser)
c.*64T>G (n.*64T>G)
c.320T>G (p.Ile107Ser)
3g.32140298T=CA1355573987GPD1Lc.437T= (p.Ile146=)
c.296T= (p.Ile99=)
c.*64T= (n.*64T=)
c.320T= (p.Ile107=)
3g.32140299C>ACA432931343GPD1Lc.438C>A (p.Ile146=)
c.297C>A (p.Ile99=)
c.*65C>A (n.*65C>A)
c.321C>A (p.Ile107=)
3g.32140299C>GCA351974786GPD1Lc.438C>G (p.Ile146Met)
c.297C>G (p.Ile99Met)
c.*65C>G (n.*65C>G)
c.321C>G (p.Ile107Met)
3g.32140299C>TCA432931344GPD1Lc.438C>T (p.Ile146=)
c.297C>T (p.Ile99=)
c.*65C>T (n.*65C>T)
c.321C>T (p.Ile107=)
3g.32140300A>CCA351974787GPD1Lc.439A>C (p.Ser147Arg)
c.298A>C (p.Ser100Arg)
c.*66A>C (n.*66A>C)
c.322A>C (p.Ser108Arg)
 gnomAD v4
3g.32140300A>GCA351974788GPD1Lc.439A>G (p.Ser147Gly)
c.298A>G (p.Ser100Gly)
c.*66A>G (n.*66A>G)
c.322A>G (p.Ser108Gly)
3g.32140300A>TCA351974789GPD1Lc.439A>T (p.Ser147Cys)
c.298A>T (p.Ser100Cys)
c.*66A>T (n.*66A>T)
c.322A>T (p.Ser108Cys)
3g.32140301G>ACA351974790GPD1Lc.440G>A (p.Ser147Asn)
c.299G>A (p.Ser100Asn)
c.*67G>A (n.*67G>A)
c.323G>A (p.Ser108Asn)
3g.32140301G>CCA351974791GPD1Lc.440G>C (p.Ser147Thr)
c.299G>C (p.Ser100Thr)
c.*67G>C (n.*67G>C)
c.323G>C (p.Ser108Thr)
3g.32140301G>TCA351974792GPD1Lc.440G>T (p.Ser147Ile)
c.299G>T (p.Ser100Ile)
c.*67G>T (n.*67G>T)
c.323G>T (p.Ser108Ile)
3g.32140302T>ACA351974794GPD1Lc.441T>A (p.Ser147Arg)
c.300T>A (p.Ser100Arg)
c.*68T>A (n.*68T>A)
c.324T>A (p.Ser108Arg)
3g.32140302T>CCA432931345GPD1Lc.441T>C (p.Ser147=)
c.300T>C (p.Ser100=)
c.*68T>C (n.*68T>C)
c.324T>C (p.Ser108=)
 gnomAD v4
3g.32140302T>GCA351974793GPD1Lc.441T>G (p.Ser147Arg)
c.300T>G (p.Ser100Arg)
c.*68T>G (n.*68T>G)
c.324T>G (p.Ser108Arg)
3g.32140303G>ACA351974795GPD1Lc.442G>A (p.Val148Met)
c.301G>A (p.Val101Met)
c.*69G>A (n.*69G>A)
c.325G>A (p.Val109Met)
 gnomAD v4
3g.32140303G>CCA351974796GPD1Lc.442G>C (p.Val148Leu)
c.301G>C (p.Val101Leu)
c.*69G>C (n.*69G>C)
c.325G>C (p.Val109Leu)
3g.32140303G>TCA351974798GPD1Lc.442G>T (p.Val148Leu)
c.301G>T (p.Val101Leu)
c.*69G>T (n.*69G>T)
c.325G>T (p.Val109Leu)
3g.32140304T>ACA351974800GPD1Lc.443T>A (p.Val148Glu)
c.302T>A (p.Val101Glu)
c.*70T>A (n.*70T>A)
c.326T>A (p.Val109Glu)
3g.32140304T>CCA351974801GPD1Lc.443T>C (p.Val148Ala)
c.302T>C (p.Val101Ala)
c.*70T>C (n.*70T>C)
c.326T>C (p.Val109Ala)
3g.32140304T>GCA351974804GPD1Lc.443T>G (p.Val148Gly)
c.302T>G (p.Val101Gly)
c.*70T>G (n.*70T>G)
c.326T>G (p.Val109Gly)
3g.32140305G>ACA432931348GPD1Lc.444G>A (p.Val148=)
c.303G>A (p.Val101=)
c.*71G>A (n.*71G>A)
c.327G>A (p.Val109=)
 COSMIC
3g.32140305G>CCA432931349GPD1Lc.444G>C (p.Val148=)
c.303G>C (p.Val101=)
c.*71G>C (n.*71G>C)
c.327G>C (p.Val109=)
3g.32140305G>TCA432931350GPD1Lc.444G>T (p.Val148=)
c.303G>T (p.Val101=)
c.*71G>T (n.*71G>T)
c.327G>T (p.Val109=)
3g.32140306C>ACA351974809GPD1Lc.445C>A (p.Leu149Met)
c.304C>A (p.Leu102Met)
c.*72C>A (n.*72C>A)
c.328C>A (p.Leu110Met)
3g.32140306C=CA1355573988GPD1Lc.445C= (p.Leu149=)
c.304C= (p.Leu102=)
c.*72C= (n.*72C=)
c.328C= (p.Leu110=)
3g.32140306C>GCA351974807GPD1Lc.445C>G (p.Leu149Val)
c.304C>G (p.Leu102Val)
c.*72C>G (n.*72C>G)
c.328C>G (p.Leu110Val)
3g.32140306C>TCA2296646GPD1Lc.445C>T (p.Leu149=)
c.304C>T (p.Leu102=)
c.*72C>T (n.*72C>T)
c.328C>T (p.Leu110=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140307T>ACA351974811GPD1Lc.446T>A (p.Leu149Gln)
c.305T>A (p.Leu102Gln)
c.*73T>A (n.*73T>A)
c.329T>A (p.Leu110Gln)
3g.32140307T>CCA351974813GPD1Lc.446T>C (p.Leu149Pro)
c.305T>C (p.Leu102Pro)
c.*73T>C (n.*73T>C)
c.329T>C (p.Leu110Pro)
3g.32140307T>GCA351974815GPD1Lc.446T>G (p.Leu149Arg)
c.305T>G (p.Leu102Arg)
c.*73T>G (n.*73T>G)
c.329T>G (p.Leu110Arg)
3g.32140308G>ACA432931351GPD1Lc.447G>A (p.Leu149=)
c.306G>A (p.Leu102=)
c.*74G>A (n.*74G>A)
c.330G>A (p.Leu110=)
3g.32140308G>CCA432931352GPD1Lc.447G>C (p.Leu149=)
c.306G>C (p.Leu102=)
c.*74G>C (n.*74G>C)
c.330G>C (p.Leu110=)
3g.32140308G>TCA432931353GPD1Lc.447G>T (p.Leu149=)
c.306G>T (p.Leu102=)
c.*74G>T (n.*74G>T)
c.330G>T (p.Leu110=)
3g.32140309A>CCA351974819GPD1Lc.448A>C (p.Met150Leu)
c.307A>C (p.Met103Leu)
c.*75A>C (n.*75A>C)
c.331A>C (p.Met111Leu)
 gnomAD v4
3g.32140309A>GCA351974820GPD1Lc.448A>G (p.Met150Val)
c.307A>G (p.Met103Val)
c.*75A>G (n.*75A>G)
c.331A>G (p.Met111Val)
3g.32140309A>TCA351974823GPD1Lc.448A>T (p.Met150Leu)
c.307A>T (p.Met103Leu)
c.*75A>T (n.*75A>T)
c.331A>T (p.Met111Leu)
3g.32140310T>ACA351974825GPD1Lc.449T>A (p.Met150Lys)
c.308T>A (p.Met103Lys)
c.*76T>A (n.*76T>A)
c.332T>A (p.Met111Lys)
3g.32140310T>CCA351974827GPD1Lc.449T>C (p.Met150Thr)
c.308T>C (p.Met103Thr)
c.*76T>C (n.*76T>C)
c.332T>C (p.Met111Thr)
3g.32140310T>GCA351974826GPD1Lc.449T>G (p.Met150Arg)
c.308T>G (p.Met103Arg)
c.*76T>G (n.*76T>G)
c.332T>G (p.Met111Arg)
3g.32140311G>ACA351974828GPD1Lc.450G>A (p.Met150Ile)
c.309G>A (p.Met103Ile)
c.*77G>A (n.*77G>A)
c.333G>A (p.Met111Ile)
 dbSNP gnomAD v4
3g.32140311G>CCA351974829GPD1Lc.450G>C (p.Met150Ile)
c.309G>C (p.Met103Ile)
c.*77G>C (n.*77G>C)
c.333G>C (p.Met111Ile)
3g.32140311G=CA1355573989GPD1Lc.450G= (p.Met150=)
c.309G= (p.Met103=)
c.*77G= (n.*77G=)
c.333G= (p.Met111=)
3g.32140311G>TCA351974830GPD1Lc.450G>T (p.Met150Ile)
c.309G>T (p.Met103Ile)
c.*77G>T (n.*77G>T)
c.333G>T (p.Met111Ile)
3g.32140312G>ACA351974831GPD1Lc.451G>A (p.Gly151Arg)
c.310G>A (p.Gly104Arg)
c.*78G>A (n.*78G>A)
c.334G>A (p.Gly112Arg)
 ClinVar
3g.32140312G>CCA351974832GPD1Lc.451G>C (p.Gly151Arg)
c.310G>C (p.Gly104Arg)
c.*78G>C (n.*78G>C)
c.334G>C (p.Gly112Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.32140312G=CA1355573990GPD1Lc.451G= (p.Gly151=)
c.310G= (p.Gly104=)
c.*78G= (n.*78G=)
c.334G= (p.Gly112=)
3g.32140312G>TCA351974833GPD1Lc.451G>T (p.Gly151Ter)
c.310G>T (p.Gly104Ter)
c.*78G>T (n.*78G>T)
c.334G>T (p.Gly112Ter)
3g.32140313G>ACA351974834GPD1Lc.452G>A (p.Gly151Glu)
c.311G>A (p.Gly104Glu)
c.*79G>A (n.*79G>A)
c.335G>A (p.Gly112Glu)
3g.32140313G>CCA351974835GPD1Lc.452G>C (p.Gly151Ala)
c.311G>C (p.Gly104Ala)
c.*79G>C (n.*79G>C)
c.335G>C (p.Gly112Ala)
3g.32140313G>TCA351974836GPD1Lc.452G>T (p.Gly151Val)
c.311G>T (p.Gly104Val)
c.*79G>T (n.*79G>T)
c.335G>T (p.Gly112Val)
3g.32140314A>CCA432931354GPD1Lc.453A>C (p.Gly151=)
c.312A>C (p.Gly104=)
c.*80A>C (n.*80A>C)
c.336A>C (p.Gly112=)
3g.32140314A>GCA432931355GPD1Lc.453A>G (p.Gly151=)
c.312A>G (p.Gly104=)
c.*80A>G (n.*80A>G)
c.336A>G (p.Gly112=)
3g.32140314A>TCA432931356GPD1Lc.453A>T (p.Gly151=)
c.312A>T (p.Gly104=)
c.*80A>T (n.*80A>T)
c.336A>T (p.Gly112=)
3g.32140315G>ACA2296647GPD1Lc.454G>A (p.Ala152Thr)
c.313G>A (p.Ala105Thr)
c.*81G>A (n.*81G>A)
c.337G>A (p.Ala113Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140315G>CCA351974837GPD1Lc.454G>C (p.Ala152Pro)
c.313G>C (p.Ala105Pro)
c.*81G>C (n.*81G>C)
c.337G>C (p.Ala113Pro)
3g.32140315G=CA1355573991GPD1Lc.454G= (p.Ala152=)
c.313G= (p.Ala105=)
c.*81G= (n.*81G=)
c.337G= (p.Ala113=)
3g.32140315G>TCA351974838GPD1Lc.454G>T (p.Ala152Ser)
c.313G>T (p.Ala105Ser)
c.*81G>T (n.*81G>T)
c.337G>T (p.Ala113Ser)
3g.32140316C>ACA351974839GPD1Lc.455C>A (p.Ala152Asp)
c.314C>A (p.Ala105Asp)
c.*82C>A (n.*82C>A)
c.338C>A (p.Ala113Asp)
 gnomAD v4
3g.32140316C>GCA351974841GPD1Lc.455C>G (p.Ala152Gly)
c.314C>G (p.Ala105Gly)
c.*82C>G (n.*82C>G)
c.338C>G (p.Ala113Gly)
 gnomAD v4
3g.32140316C>TCA351974840GPD1Lc.455C>T (p.Ala152Val)
c.314C>T (p.Ala105Val)
c.*82C>T (n.*82C>T)
c.338C>T (p.Ala113Val)
3g.32140317C>ACA432931360GPD1Lc.456C>A (p.Ala152=)
c.315C>A (p.Ala105=)
c.*83C>A (n.*83C>A)
c.339C>A (p.Ala113=)
3g.32140317C>GCA432931359GPD1Lc.456C>G (p.Ala152=)
c.315C>G (p.Ala105=)
c.*83C>G (n.*83C>G)
c.339C>G (p.Ala113=)
3g.32140317C>TCA432931358GPD1Lc.456C>T (p.Ala152=)
c.315C>T (p.Ala105=)
c.*83C>T (n.*83C>T)
c.339C>T (p.Ala113=)
3g.32140318A>CCA351974842GPD1Lc.457A>C (p.Asn153His)
c.316A>C (p.Asn106His)
c.*84A>C (n.*84A>C)
c.340A>C (p.Asn114His)
3g.32140318A>GCA351974844GPD1Lc.457A>G (p.Asn153Asp)
c.316A>G (p.Asn106Asp)
c.*84A>G (n.*84A>G)
c.340A>G (p.Asn114Asp)
3g.32140318A>TCA351974843GPD1Lc.457A>T (p.Asn153Tyr)
c.316A>T (p.Asn106Tyr)
c.*84A>T (n.*84A>T)
c.340A>T (p.Asn114Tyr)
3g.32140319A>CCA351974845GPD1Lc.458A>C (p.Asn153Thr)
c.317A>C (p.Asn106Thr)
c.*85A>C (n.*85A>C)
c.341A>C (p.Asn114Thr)
3g.32140319A>GCA351974846GPD1Lc.458A>G (p.Asn153Ser)
c.317A>G (p.Asn106Ser)
c.*85A>G (n.*85A>G)
c.341A>G (p.Asn114Ser)
3g.32140319A>TCA351974847GPD1Lc.458A>T (p.Asn153Ile)
c.317A>T (p.Asn106Ile)
c.*85A>T (n.*85A>T)
c.341A>T (p.Asn114Ile)
3g.32140320C>ACA351974848GPD1Lc.459C>A (p.Asn153Lys)
c.318C>A (p.Asn106Lys)
c.*86C>A (n.*86C>A)
c.342C>A (p.Asn114Lys)
 gnomAD v4
3g.32140320C=CA1355573992GPD1Lc.459C= (p.Asn153=)
c.318C= (p.Asn106=)
c.*86C= (n.*86C=)
c.342C= (p.Asn114=)
3g.32140320C>GCA351974849GPD1Lc.459C>G (p.Asn153Lys)
c.318C>G (p.Asn106Lys)
c.*86C>G (n.*86C>G)
c.342C>G (p.Asn114Lys)
3g.32140320C>TCA2296648GPD1Lc.459C>T (p.Asn153=)
c.318C>T (p.Asn106=)
c.*86C>T (n.*86C>T)
c.342C>T (p.Asn114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140321A=CA1355573993GPD1Lc.460A= (p.Ile154=)
c.319A= (p.Ile107=)
c.*87A= (n.*87A=)
c.343A= (p.Ile115=)
3g.32140321A>CCA351974850GPD1Lc.460A>C (p.Ile154Leu)
c.319A>C (p.Ile107Leu)
c.*87A>C (n.*87A>C)
c.343A>C (p.Ile115Leu)
3g.32140321A>GCA351974851GPD1Lc.460A>G (p.Ile154Val)
c.319A>G (p.Ile107Val)
c.*87A>G (n.*87A>G)
c.343A>G (p.Ile115Val)
 gnomAD v4
3g.32140321A>TCA351974852GPD1Lc.460A>T (p.Ile154Phe)
c.319A>T (p.Ile107Phe)
c.*87A>T (n.*87A>T)
c.343A>T (p.Ile115Phe)
 dbSNP
3g.32140322T>ACA351974853GPD1Lc.461T>A (p.Ile154Asn)
c.320T>A (p.Ile107Asn)
c.*88T>A (n.*88T>A)
c.344T>A (p.Ile115Asn)
3g.32140322T>CCA2296649GPD1Lc.461T>C (p.Ile154Thr)
c.320T>C (p.Ile107Thr)
c.*88T>C (n.*88T>C)
c.344T>C (p.Ile115Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.32140322T>GCA351974854GPD1Lc.461T>G (p.Ile154Ser)
c.320T>G (p.Ile107Ser)
c.*88T>G (n.*88T>G)
c.344T>G (p.Ile115Ser)
3g.32140322T=CA1355573994GPD1Lc.461T= (p.Ile154=)
c.320T= (p.Ile107=)
c.*88T= (n.*88T=)
c.344T= (p.Ile115=)
3g.32140323T>ACA432931361GPD1Lc.462T>A (p.Ile154=)
c.321T>A (p.Ile107=)
c.*89T>A (n.*89T>A)
c.345T>A (p.Ile115=)
3g.32140323T>CCA432931362GPD1Lc.462T>C (p.Ile154=)
c.321T>C (p.Ile107=)
c.*89T>C (n.*89T>C)
c.345T>C (p.Ile115=)
3g.32140323T>GCA351974855GPD1Lc.462T>G (p.Ile154Met)
c.321T>G (p.Ile107Met)
c.*89T>G (n.*89T>G)
c.345T>G (p.Ile115Met)
 gnomAD v4
3g.32140324G>ACA351974856GPD1Lc.463G>A (p.Ala155Thr)
c.322G>A (p.Ala108Thr)
c.*90G>A (n.*90G>A)
c.346G>A (p.Ala116Thr)
3g.32140324G>CCA351974858GPD1Lc.463G>C (p.Ala155Pro)
c.322G>C (p.Ala108Pro)
c.*90G>C (n.*90G>C)
c.346G>C (p.Ala116Pro)
3g.32140324G>TCA351974857GPD1Lc.463G>T (p.Ala155Ser)
c.322G>T (p.Ala108Ser)
c.*90G>T (n.*90G>T)
c.346G>T (p.Ala116Ser)
3g.32140325C>ACA351974859GPD1Lc.464C>A (p.Ala155Asp)
c.323C>A (p.Ala108Asp)
c.*91C>A (n.*91C>A)
c.347C>A (p.Ala116Asp)
3g.32140325C>GCA351974860GPD1Lc.464C>G (p.Ala155Gly)
c.323C>G (p.Ala108Gly)
c.*91C>G (n.*91C>G)
c.347C>G (p.Ala116Gly)
3g.32140325C>TCA351974861GPD1Lc.464C>T (p.Ala155Val)
c.323C>T (p.Ala108Val)
c.*91C>T (n.*91C>T)
c.347C>T (p.Ala116Val)
3g.32140326C>ACA432931363GPD1Lc.465C>A (p.Ala155=)
c.324C>A (p.Ala108=)
c.*92C>A (n.*92C>A)
c.348C>A (p.Ala116=)
3g.32140326C=CA1355573995GPD1Lc.465C= (p.Ala155=)
c.324C= (p.Ala108=)
c.*92C= (n.*92C=)
c.348C= (p.Ala116=)
3g.32140326C>GCA432931364GPD1Lc.465C>G (p.Ala155=)
c.324C>G (p.Ala108=)
c.*92C>G (n.*92C>G)
c.348C>G (p.Ala116=)
 gnomAD v4
3g.32140326C>TCA2296650GPD1Lc.465C>T (p.Ala155=)
c.324C>T (p.Ala108=)
c.*92C>T (n.*92C>T)
c.348C>T (p.Ala116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140327A>CCA351974862GPD1Lc.466A>C (p.Asn156His)
c.325A>C (p.Asn109His)
c.*93A>C (n.*93A>C)
c.349A>C (p.Asn117His)
3g.32140327A>GCA351974863GPD1Lc.466A>G (p.Asn156Asp)
c.325A>G (p.Asn109Asp)
c.*93A>G (n.*93A>G)
c.349A>G (p.Asn117Asp)
3g.32140327A>TCA351974864GPD1Lc.466A>T (p.Asn156Tyr)
c.325A>T (p.Asn109Tyr)
c.*93A>T (n.*93A>T)
c.349A>T (p.Asn117Tyr)
3g.32140328A=CA1355573996GPD1Lc.467A= (p.Asn156=)
c.326A= (p.Asn109=)
c.*94A= (n.*94A=)
c.350A= (p.Asn117=)
3g.32140328A>CCA351974865GPD1Lc.467A>C (p.Asn156Thr)
c.326A>C (p.Asn109Thr)
c.*94A>C (n.*94A>C)
c.350A>C (p.Asn117Thr)
 dbSNP gnomAD v2
3g.32140328A>GCA2296651GPD1Lc.467A>G (p.Asn156Ser)
c.326A>G (p.Asn109Ser)
c.*94A>G (n.*94A>G)
c.350A>G (p.Asn117Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.32140328A>TCA351974866GPD1Lc.467A>T (p.Asn156Ile)
c.326A>T (p.Asn109Ile)
c.*94A>T (n.*94A>T)
c.350A>T (p.Asn117Ile)
3g.32140329T>ACA351974868GPD1Lc.468T>A (p.Asn156Lys)
c.327T>A (p.Asn109Lys)
c.*95T>A (n.*95T>A)
c.351T>A (p.Asn117Lys)
3g.32140329T>CCA432931365GPD1Lc.468T>C (p.Asn156=)
c.327T>C (p.Asn109=)
c.*95T>C (n.*95T>C)
c.351T>C (p.Asn117=)
 dbSNP gnomAD v4
3g.32140329T>GCA351974867GPD1Lc.468T>G (p.Asn156Lys)
c.327T>G (p.Asn109Lys)
c.*95T>G (n.*95T>G)
c.351T>G (p.Asn117Lys)
3g.32140329T=CA1355573997GPD1Lc.468T= (p.Asn156=)
c.327T= (p.Asn109=)
c.*95T= (n.*95T=)
c.351T= (p.Asn117=)
3g.32140330G>ACA351974869GPD1Lc.469G>A (p.Glu157Lys)
c.328G>A (p.Glu110Lys)
c.*96G>A (n.*96G>A)
c.352G>A (p.Glu118Lys)
 gnomAD v4
3g.32140330G>CCA351974871GPD1Lc.469G>C (p.Glu157Gln)
c.328G>C (p.Glu110Gln)
c.*96G>C (n.*96G>C)
c.352G>C (p.Glu118Gln)
3g.32140330G>TCA351974870GPD1Lc.469G>T (p.Glu157Ter)
c.328G>T (p.Glu110Ter)
c.*96G>T (n.*96G>T)
c.352G>T (p.Glu118Ter)
3g.32140331A>CCA351974872GPD1Lc.470A>C (p.Glu157Ala)
c.329A>C (p.Glu110Ala)
c.*97A>C (n.*97A>C)
c.353A>C (p.Glu118Ala)
3g.32140331A>GCA351974873GPD1Lc.470A>G (p.Glu157Gly)
c.329A>G (p.Glu110Gly)
c.*97A>G (n.*97A>G)
c.353A>G (p.Glu118Gly)
3g.32140331A>TCA351974874GPD1Lc.470A>T (p.Glu157Val)
c.329A>T (p.Glu110Val)
c.*97A>T (n.*97A>T)
c.353A>T (p.Glu118Val)

Number of alleles fetched