Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99428512C>ACA357498596ADH7c.239G>T (p.Gly80Val)
c.275G>T (p.Gly92Val)
c.68G>T (p.Gly23Val)
c.299G>T (p.Gly100Val)
gnomAD v4
4g.99428512C=CA1480005262ADH7c.239G= (p.Gly80=)
c.275G= (p.Gly92=)
c.68G= (p.Gly23=)
c.299G= (p.Gly100=)
4g.99428512C>GCA3020900ADH7c.239G>C (p.Gly80Ala)
c.275G>C (p.Gly92Ala)
c.68G>C (p.Gly23Ala)
c.299G>C (p.Gly100Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428512C>TCA357498597ADH7c.239G>A (p.Gly80Glu)
c.275G>A (p.Gly92Glu)
c.68G>A (p.Gly23Glu)
c.299G>A (p.Gly100Glu)
4g.99428512_99428515delinsCCTTCA1480005260ADH7c.236_239delinsAAGG (p.Glu79=)
c.272_275delinsAAGG (p.Glu91=)
c.65_68delinsAAGG (p.Glu22=)
c.296_299delinsAAGG (p.Glu99=)
4g.99428513C>ACA357498598ADH7c.238G>T (p.Gly80Ter)
c.274G>T (p.Gly92Ter)
c.67G>T (p.Gly23Ter)
c.298G>T (p.Gly100Ter)
4g.99428513C=CA1480005270ADH7c.238G= (p.Gly80=)
c.274G= (p.Gly92=)
c.67G= (p.Gly23=)
c.298G= (p.Gly100=)
4g.99428513C>GCA357498599ADH7c.238G>C (p.Gly80Arg)
c.274G>C (p.Gly92Arg)
c.67G>C (p.Gly23Arg)
c.298G>C (p.Gly100Arg)
4g.99428513C>TCA102654159ADH7c.238G>A (p.Gly80Arg)
c.274G>A (p.Gly92Arg)
c.67G>A (p.Gly23Arg)
c.298G>A (p.Gly100Arg)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.99428513_99428515delinsGCA917262550ADH7c.236_238delinsC (p.Glu79AlafsTer9)
c.272_274delinsC (p.Glu91AlafsTer9)
c.65_67delinsC (p.Glu22AlafsTer9)
c.296_298delinsC (p.Glu99AlafsTer9)
dbSNP
4g.99428515_99428517delCA3020901ADH7c.236_238del (p.Glu79del)
c.272_274del (p.Glu91del)
c.65_67del (p.Glu22del)
c.296_298del (p.Glu99del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428514T>ACA357498600ADH7c.237A>T (p.Glu79Asp)
c.273A>T (p.Glu91Asp)
c.66A>T (p.Glu22Asp)
c.297A>T (p.Glu99Asp)
4g.99428514T>CCA440318611ADH7c.237A>G (p.Glu79=)
c.273A>G (p.Glu91=)
c.66A>G (p.Glu22=)
c.297A>G (p.Glu99=)
4g.99428514T>GCA357498601ADH7c.237A>C (p.Glu79Asp)
c.273A>C (p.Glu91Asp)
c.66A>C (p.Glu22Asp)
c.297A>C (p.Glu99Asp)
4g.99428515T>ACA357498602ADH7c.236A>T (p.Glu79Val)
c.272A>T (p.Glu91Val)
c.65A>T (p.Glu22Val)
c.296A>T (p.Glu99Val)
4g.99428515T>CCA357498603ADH7c.236A>G (p.Glu79Gly)
c.272A>G (p.Glu91Gly)
c.65A>G (p.Glu22Gly)
c.296A>G (p.Glu99Gly)
4g.99428515T>GCA357498604ADH7c.236A>C (p.Glu79Ala)
c.272A>C (p.Glu91Ala)
c.65A>C (p.Glu22Ala)
c.296A>C (p.Glu99Ala)
4g.99428516C>ACA357498607ADH7c.235G>T (p.Glu79Ter)
c.271G>T (p.Glu91Ter)
c.64G>T (p.Glu22Ter)
c.295G>T (p.Glu99Ter)
4g.99428516C>GCA357498606ADH7c.235G>C (p.Glu79Gln)
c.271G>C (p.Glu91Gln)
c.64G>C (p.Glu22Gln)
c.295G>C (p.Glu99Gln)
4g.99428516C>TCA357498605ADH7c.235G>A (p.Glu79Lys)
c.271G>A (p.Glu91Lys)
c.64G>A (p.Glu22Lys)
c.295G>A (p.Glu99Lys)
gnomAD v4
4g.99428517T>ACA440318626ADH7c.234A>T (p.Gly78=)
c.270A>T (p.Gly90=)
c.63A>T (p.Gly21=)
c.294A>T (p.Gly98=)
4g.99428517T>CCA440318630ADH7c.234A>G (p.Gly78=)
c.270A>G (p.Gly90=)
c.63A>G (p.Gly21=)
c.294A>G (p.Gly98=)
dbSNP gnomAD v3 gnomAD v4
4g.99428517T>GCA440318627ADH7c.234A>C (p.Gly78=)
c.270A>C (p.Gly90=)
c.63A>C (p.Gly21=)
c.294A>C (p.Gly98=)
4g.99428517T=CA1480005272ADH7c.234A= (p.Gly78=)
c.270A= (p.Gly90=)
c.63A= (p.Gly21=)
c.294A= (p.Gly98=)
4g.99428518C>ACA357498608ADH7c.233G>T (p.Gly78Val)
c.269G>T (p.Gly90Val)
c.62G>T (p.Gly21Val)
c.293G>T (p.Gly98Val)
4g.99428518C>GCA357498609ADH7c.233G>C (p.Gly78Ala)
c.269G>C (p.Gly90Ala)
c.62G>C (p.Gly21Ala)
c.293G>C (p.Gly98Ala)
4g.99428518C>TCA357498610ADH7c.233G>A (p.Gly78Glu)
c.269G>A (p.Gly90Glu)
c.62G>A (p.Gly21Glu)
c.293G>A (p.Gly98Glu)
4g.99428519C>ACA357498611ADH7c.232G>T (p.Gly78Ter)
c.268G>T (p.Gly90Ter)
c.61G>T (p.Gly21Ter)
c.292G>T (p.Gly98Ter)
4g.99428519C>GCA357498612ADH7c.232G>C (p.Gly78Arg)
c.268G>C (p.Gly90Arg)
c.61G>C (p.Gly21Arg)
c.292G>C (p.Gly98Arg)
4g.99428519C>TCA357498613ADH7c.232G>A (p.Gly78Arg)
c.268G>A (p.Gly90Arg)
c.61G>A (p.Gly21Arg)
c.292G>A (p.Gly98Arg)
gnomAD v4
4g.99428520A=CA1480005276ADH7c.231T= (p.Ile77=)
c.267T= (p.Ile89=)
c.60T= (p.Ile20=)
c.291T= (p.Ile97=)
4g.99428520A>CCA357498614ADH7c.231T>G (p.Ile77Met)
c.267T>G (p.Ile89Met)
c.60T>G (p.Ile20Met)
c.291T>G (p.Ile97Met)
4g.99428520A>GCA440318645ADH7c.231T>C (p.Ile77=)
c.267T>C (p.Ile89=)
c.60T>C (p.Ile20=)
c.291T>C (p.Ile97=)
dbSNP
4g.99428520A>TCA440318647ADH7c.231T>A (p.Ile77=)
c.267T>A (p.Ile89=)
c.60T>A (p.Ile20=)
c.291T>A (p.Ile97=)
gnomAD v4
4g.99428521A=CA1480005280ADH7c.230T= (p.Ile77=)
c.266T= (p.Ile89=)
c.59T= (p.Ile20=)
c.290T= (p.Ile97=)
4g.99428521A>CCA357498615ADH7c.230T>G (p.Ile77Ser)
c.266T>G (p.Ile89Ser)
c.59T>G (p.Ile20Ser)
c.290T>G (p.Ile97Ser)
4g.99428521A>GCA3020902ADH7c.230T>C (p.Ile77Thr)
c.266T>C (p.Ile89Thr)
c.59T>C (p.Ile20Thr)
c.290T>C (p.Ile97Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428521A>TCA357498616ADH7c.230T>A (p.Ile77Asn)
c.266T>A (p.Ile89Asn)
c.59T>A (p.Ile20Asn)
c.290T>A (p.Ile97Asn)
4g.99428522T>ACA357498617ADH7c.229A>T (p.Ile77Phe)
c.265A>T (p.Ile89Phe)
c.58A>T (p.Ile20Phe)
c.289A>T (p.Ile97Phe)
gnomAD v4
4g.99428522T>CCA357498618ADH7c.229A>G (p.Ile77Val)
c.265A>G (p.Ile89Val)
c.58A>G (p.Ile20Val)
c.289A>G (p.Ile97Val)
COSMIC COSMIC
4g.99428522T>GCA357498619ADH7c.229A>C (p.Ile77Leu)
c.265A>C (p.Ile89Leu)
c.58A>C (p.Ile20Leu)
c.289A>C (p.Ile97Leu)
4g.99428523G>ACA440318662ADH7c.228C>T (p.Ser76=)
c.264C>T (p.Ser88=)
c.57C>T (p.Ser19=)
c.288C>T (p.Ser96=)
dbSNP gnomAD v3 gnomAD v4
4g.99428523G>CCA357498621ADH7c.228C>G (p.Ser76Arg)
c.264C>G (p.Ser88Arg)
c.57C>G (p.Ser19Arg)
c.288C>G (p.Ser96Arg)
4g.99428523G=CA1480005282ADH7c.228C= (p.Ser76=)
c.264C= (p.Ser88=)
c.57C= (p.Ser19=)
c.288C= (p.Ser96=)
4g.99428523G>TCA357498620ADH7c.228C>A (p.Ser76Arg)
c.264C>A (p.Ser88Arg)
c.57C>A (p.Ser19Arg)
c.288C>A (p.Ser96Arg)
4g.99428524C>ACA357498622ADH7c.227G>T (p.Ser76Ile)
c.263G>T (p.Ser88Ile)
c.56G>T (p.Ser19Ile)
c.287G>T (p.Ser96Ile)
4g.99428524C=CA1480005284ADH7c.227G= (p.Ser76=)
c.263G= (p.Ser88=)
c.56G= (p.Ser19=)
c.287G= (p.Ser96=)
4g.99428524C>GCA357498623ADH7c.227G>C (p.Ser76Thr)
c.263G>C (p.Ser88Thr)
c.56G>C (p.Ser19Thr)
c.287G>C (p.Ser96Thr)
4g.99428524C>TCA357498624ADH7c.227G>A (p.Ser76Asn)
c.263G>A (p.Ser88Asn)
c.56G>A (p.Ser19Asn)
c.287G>A (p.Ser96Asn)
dbSNP gnomAD v4
4g.99428525T>ACA357498625ADH7c.226A>T (p.Ser76Cys)
c.262A>T (p.Ser88Cys)
c.55A>T (p.Ser19Cys)
c.286A>T (p.Ser96Cys)

Number of alleles fetched