Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.77918189G>ACA142155NEXNc.363G>A (p.Thr121=)
c.171G>A (p.Thr57=)
c.62G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918189G>CCA418709201NEXNc.363G>C (p.Thr121=)
c.171G>C (p.Thr57=)
c.62G>C
1g.77918189G=CA1140555170NEXNc.363G= (p.Thr121=)
c.171G= (p.Thr57=)
c.62G=
1g.77918189G>TCA418709204NEXNc.363G>T (p.Thr121=)
c.171G>T (p.Thr57=)
c.62G>T
1g.77918190G>ACA340886561NEXNc.364G>A (p.Glu122Lys)
c.172G>A (p.Glu58Lys)
c.63G>A
1g.77918190G>CCA918625NEXNc.364G>C (p.Glu122Gln)
c.172G>C (p.Glu58Gln)
c.63G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918190G=CA1148888718NEXNc.364G= (p.Glu122=)
c.172G= (p.Glu58=)
c.63G=
1g.77918190G>TCA340886562NEXNc.364G>T (p.Glu122Ter)
c.172G>T (p.Glu58Ter)
c.63G>T
1g.77918191A>CCA340886564NEXNc.365A>C (p.Glu122Ala)
c.173A>C (p.Glu58Ala)
c.64A>C
1g.77918191A>GCA340886565NEXNc.365A>G (p.Glu122Gly)
c.173A>G (p.Glu58Gly)
c.64A>G
1g.77918191A>TCA340886563NEXNc.365A>T (p.Glu122Val)
c.173A>T (p.Glu58Val)
c.64A>T
1g.77918192G>ACA418709205NEXNc.366G>A (p.Glu122=)
c.174G>A (p.Glu58=)
c.65G>A
1g.77918192G>CCA340886567NEXNc.366G>C (p.Glu122Asp)
c.174G>C (p.Glu58Asp)
c.65G>C
1g.77918192G>TCA340886566NEXNc.366G>T (p.Glu122Asp)
c.174G>T (p.Glu58Asp)
c.65G>T
1g.77918193G>ACA340886568NEXNc.367G>A (p.Glu123Lys)
c.175G>A (p.Glu59Lys)
c.66G>A
gnomAD v4 COSMIC COSMIC
1g.77918193G>CCA340886569NEXNc.367G>C (p.Glu123Gln)
c.175G>C (p.Glu59Gln)
c.66G>C
1g.77918193G>TCA340886570NEXNc.367G>T (p.Glu123Ter)
c.175G>T (p.Glu59Ter)
c.66G>T
1g.77918194A=CA1177620344NEXNc.368A= (p.Glu123=)
c.176A= (p.Glu59=)
c.67A=
1g.77918194A>CCA340886571NEXNc.368A>C (p.Glu123Ala)
c.176A>C (p.Glu59Ala)
c.67A>C
1g.77918194A>GCA340886572NEXNc.368A>G (p.Glu123Gly)
c.176A>G (p.Glu59Gly)
c.67A>G
1g.77918194A>TCA24705420NEXNc.368A>T (p.Glu123Val)
c.176A>T (p.Glu59Val)
c.67A>T
dbSNP
1g.77918195G>ACA418709211NEXNc.369G>A (p.Glu123=)
c.177G>A (p.Glu59=)
c.68G>A
1g.77918195G>CCA340886573NEXNc.369G>C (p.Glu123Asp)
c.177G>C (p.Glu59Asp)
c.68G>C
1g.77918195G>TCA340886574NEXNc.369G>T (p.Glu123Asp)
c.177G>T (p.Glu59Asp)
c.68G>T
1g.77918196G>ACA918626NEXNc.370G>A (p.Glu124Lys)
c.178G>A (p.Glu60Lys)
c.69G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918196G>CCA340886575NEXNc.370G>C (p.Glu124Gln)
c.178G>C (p.Glu60Gln)
c.69G>C
1g.77918196G=CA1143882862NEXNc.370G= (p.Glu124=)
c.178G= (p.Glu60=)
c.69G=
1g.77918196G>TCA340886576NEXNc.370G>T (p.Glu124Ter)
c.178G>T (p.Glu60Ter)
c.69G>T
1g.77918197A>CCA340886578NEXNc.371A>C (p.Glu124Ala)
c.179A>C (p.Glu60Ala)
c.70A>C
1g.77918197A>GCA340886579NEXNc.371A>G (p.Glu124Gly)
c.179A>G (p.Glu60Gly)
c.70A>G
1g.77918197A>TCA340886577NEXNc.371A>T (p.Glu124Val)
c.179A>T (p.Glu60Val)
c.70A>T
1g.77918198delCA2646303703NEXNc.372del (p.Glu124AspfsTer11)
c.180del (p.Glu60AspfsTer11)
c.71del
gnomAD v4
1g.77918198A>CCA340886580NEXNc.372A>C (p.Glu124Asp)
c.180A>C (p.Glu60Asp)
c.71A>C
1g.77918198A>GCA418709217NEXNc.372A>G (p.Glu124=)
c.180A>G (p.Glu60=)
c.71A>G
1g.77918198A>TCA340886581NEXNc.372A>T (p.Glu124Asp)
c.180A>T (p.Glu60Asp)
c.71A>T
1g.77918199C>ACA918627NEXNc.373C>A (p.Arg125=)
c.181C>A (p.Arg61=)
c.72C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77918199C=CA1177620345NEXNc.373C= (p.Arg125=)
c.181C= (p.Arg61=)
c.72C=
1g.77918199C>GCA340886582NEXNc.373C>G (p.Arg125Gly)
c.181C>G (p.Arg61Gly)
c.72C>G
1g.77918199C>TCA340886583NEXNc.373C>T (p.Arg125Ter)
c.181C>T (p.Arg61Ter)
c.72C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77918200G>ACA918628NEXNc.374G>A (p.Arg125Gln)
c.182G>A (p.Arg61Gln)
c.73G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.77918200G>CCA340886584NEXNc.374G>C (p.Arg125Pro)
c.182G>C (p.Arg61Pro)
c.73G>C
1g.77918200G=CA1148448917NEXNc.374G= (p.Arg125=)
c.182G= (p.Arg61=)
c.73G=
1g.77918200G>TCA340886585NEXNc.374G>T (p.Arg125Leu)
c.182G>T (p.Arg61Leu)
c.73G>T
1g.77918201A>CCA418709228NEXNc.375A>C (p.Arg125=)
c.183A>C (p.Arg61=)
c.74A>C
1g.77918201A>GCA418709229NEXNc.375A>G (p.Arg125=)
c.183A>G (p.Arg61=)
c.74A>G
1g.77918201A>TCA418709230NEXNc.375A>T (p.Arg125=)
c.183A>T (p.Arg61=)
c.74A>T
1g.77918202A=CA1177620346NEXNc.376A= (p.Lys126=)
c.184A= (p.Lys62=)
c.75A=
1g.77918202A>CCA24705428NEXNc.376A>C (p.Lys126Gln)
c.184A>C (p.Lys62Gln)
c.75A>C
dbSNP gnomAD v4
1g.77918202A>GCA340886586NEXNc.376A>G (p.Lys126Glu)
c.184A>G (p.Lys62Glu)
c.75A>G
dbSNP gnomAD v2 gnomAD v4
1g.77918202A>TCA340886587NEXNc.376A>T (p.Lys126Ter)
c.184A>T (p.Lys62Ter)
c.75A>T

Number of alleles fetched