Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240878050_240878051delCA275862AGXTc.971_972del (p.Val324GlyfsTer7)
n.749_750del
dbSNP
2g.240878050_240878051delinsTGCA1339335763AGXTc.971_972delinsTG (p.Val324=)
n.749_750delinsTG
2g.240878051G>ACA432026199AGXTc.972G>A (p.Val324=)
n.750G>A
2g.240878051G>CCA432026195AGXTc.972G>C (p.Val324=)
n.750G>C
2g.240878051G>TCA432026198AGXTc.972G>T (p.Val324=)
n.750G>T
2g.240878052delCA1139655794AGXTc.973del (p.Ala325LeufsTer16)
n.751del
ClinVar dbSNP
2g.240878052G>ACA2209365AGXTc.973G>A (p.Ala325Thr)
n.751G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240878052G>CCA351319510AGXTc.973G>C (p.Ala325Pro)
n.751G>C
2g.240878052G=CA1339335764AGXTc.973G= (p.Ala325=)
n.751G=
2g.240878052G>TCA351319511AGXTc.973G>T (p.Ala325Ser)
n.751G>T
2g.240878053C>ACA351319512AGXTc.974C>A (p.Ala325Asp)
n.752C>A
2g.240878053C>GCA351319513AGXTc.974C>G (p.Ala325Gly)
n.752C>G
2g.240878053C>TCA351319514AGXTc.974C>T (p.Ala325Val)
n.752C>T
gnomAD v4
2g.240878054T>ACA432026201AGXTc.975T>A (p.Ala325=)
n.753T>A
2g.240878054T>CCA432026202AGXTc.975T>C (p.Ala325=)
n.753T>C
2g.240878054T>GCA432026203AGXTc.975T>G (p.Ala325=)
n.753T>G
2g.240878054_240878055delinsTGCA1339335765AGXTc.975_976delinsTG (p.Ala325=)
n.753_754delinsTG
2g.240878055delCA274440AGXTc.976del (p.Val326TyrfsTer15)
n.754del
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.240878055G>ACA275602AGXTc.976G>A (p.Val326Ile)
n.754G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240878055G>CCA351319515AGXTc.976G>C (p.Val326Leu)
n.754G>C
2g.240878055G=CA1339335766AGXTc.976G= (p.Val326=)
n.754G=
2g.240878055G>TCA351319516AGXTc.976G>T (p.Val326Leu)
n.754G>T
gnomAD v4
2g.240878056delCA351319520AGXTc.977del (p.Val326AspfsTer15)
n.755del
2g.240878056T>ACA351319517AGXTc.977T>A (p.Val326Glu)
n.755T>A
2g.240878056T>CCA351319518AGXTc.977T>C (p.Val326Ala)
n.755T>C
dbSNP gnomAD v3 gnomAD v4
2g.240878056T>GCA351319519AGXTc.977T>G (p.Val326Gly)
n.755T>G
2g.240878056T=CA1339335767AGXTc.977T= (p.Val326=)
n.755T=
2g.240878057A>CCA432026213AGXTc.978A>C (p.Val326=)
n.756A>C
2g.240878057A>GCA432026215AGXTc.978A>G (p.Val326=)
n.756A>G
2g.240878057A>TCA432026216AGXTc.978A>T (p.Val326=)
n.756A>T
ClinVar dbSNP
2g.240878058C>ACA351319521AGXTc.979C>A (p.Pro327Thr)
n.757C>A
2g.240878058C=CA1339335768AGXTc.979C= (p.Pro327=)
n.757C=
2g.240878058C>GCA351319522AGXTc.979C>G (p.Pro327Ala)
n.757C>G
2g.240878058C>TCA351319523AGXTc.979C>T (p.Pro327Ser)
n.757C>T
dbSNP
2g.240878059C>ACA351319524AGXTc.980C>A (p.Pro327His)
n.758C>A
2g.240878059C>GCA351319525AGXTc.980C>G (p.Pro327Arg)
n.758C>G
2g.240878059C>TCA351319526AGXTc.980C>T (p.Pro327Leu)
n.758C>T
2g.240878060C>ACA432026222AGXTc.981C>A (p.Pro327=)
n.759C>A
gnomAD v4
2g.240878060C=CA1339335769AGXTc.981C= (p.Pro327=)
n.759C=
2g.240878060C>GCA432026224AGXTc.981C>G (p.Pro327=)
n.759C>G
2g.240878060C>TCA2209366AGXTc.981C>T (p.Pro327=)
n.759C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240878061G>ACA2209367AGXTc.982G>A (p.Ala328Thr)
n.760G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240878061G>CCA351319528AGXTc.982G>C (p.Ala328Pro)
n.760G>C
dbSNP
2g.240878061G=CA1339335771AGXTc.982G= (p.Ala328=)
n.760G=
2g.240878061G>TCA351319527AGXTc.982G>T (p.Ala328Ser)
n.760G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240878061_240878067delinsGCTGGCTCA1339335770AGXTc.982_988delinsGCTGGCT (p.Ala328=)
n.760_766delinsGCTGGCT
2g.240878062C>ACA351319529AGXTc.983C>A (p.Ala328Asp)
n.761C>A
2g.240878062C>GCA351319530AGXTc.983C>G (p.Ala328Gly)
n.761C>G
2g.240878062C>TCA351319531AGXTc.983C>T (p.Ala328Val)
n.761C>T
2g.240878062dupCA2580068044AGXTc.983dup (p.Gly329TrpfsTer3)
n.761dup
ClinVar

Number of alleles fetched