Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240874028G>ACA275728AGXTc.646G>A (p.Gly216Arg)
n.332+979G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.240874028G>CCA351316956AGXTc.646G>C (p.Gly216Arg)
n.332+979G>C
2g.240874028G=CA1339333580AGXTc.646G= (p.Gly216=)
n.332+979G=
2g.240874028G>TCA351316958AGXTc.646G>T (p.Gly216Trp)
n.332+979G>T
2g.240874029G>ACA2209180AGXTc.647G>A (p.Gly216Glu)
n.332+980G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.240874029G>CCA351316960AGXTc.647G>C (p.Gly216Ala)
n.332+980G>C
2g.240874029G=CA1339333581AGXTc.647G= (p.Gly216=)
n.332+980G=
2g.240874029G>TCA351316962AGXTc.647G>T (p.Gly216Val)
n.332+980G>T
2g.240874029_240874030delinsAACA645538649AGXTc.647_648delinsAA (p.Gly216Glu)
n.332+980_332+981delinsAA
COSMIC
2g.240874030G>ACA432024194AGXTc.648G>A (p.Gly216=)
n.332+981G>A
2g.240874030G>CCA2209181AGXTc.648G>C (p.Gly216=)
n.332+981G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240874030G=CA1339333582AGXTc.648G= (p.Gly216=)
n.332+981G=
2g.240874030G>TCA432024195AGXTc.648G>T (p.Gly216=)
n.332+981G>T
2g.240874031A>CCA351316966AGXTc.649A>C (p.Thr217Pro)
n.332+982A>C
2g.240874031A>GCA351316968AGXTc.649A>G (p.Thr217Ala)
n.332+982A>G
2g.240874031A>TCA351316970AGXTc.649A>T (p.Thr217Ser)
n.332+982A>T
2g.240874032C>ACA351316972AGXTc.650C>A (p.Thr217Asn)
n.332+983C>A
2g.240874032C>GCA351316974AGXTc.650C>G (p.Thr217Ser)
n.332+983C>G
2g.240874032C>TCA351316978AGXTc.650C>T (p.Thr217Ile)
n.332+983C>T
2g.240874033C>ACA432024205AGXTc.651C>A (p.Thr217=)
n.332+984C>A
2g.240874033C=CA1339333583AGXTc.651C= (p.Thr217=)
n.332+984C=
2g.240874033C>GCA432024206AGXTc.651C>G (p.Thr217=)
n.332+984C>G
2g.240874033C>TCA2209182AGXTc.651C>T (p.Thr217=)
n.332+984C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240874034T>ACA351316983AGXTc.652T>A (p.Ser218Thr)
n.332+985T>A
2g.240874034T>CCA351316980AGXTc.652T>C (p.Ser218Pro)
n.332+985T>C
2g.240874034T>GCA351316981AGXTc.652T>G (p.Ser218Ala)
n.332+985T>G
2g.240874035C>ACA351316985AGXTc.653C>A (p.Ser218Ter)
n.332+986C>A
ClinVar dbSNP
2g.240874035C=CA1339333584AGXTc.653C= (p.Ser218=)
n.332+986C=
2g.240874035C>GCA351316987AGXTc.653C>G (p.Ser218Trp)
n.332+986C>G
2g.240874035C>TCA274210AGXTc.653C>T (p.Ser218Leu)
n.332+986C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240874036G>ACA203191AGXTc.654G>A (p.Ser218=)
n.332+987G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240874036G>CCA432024210AGXTc.654G>C (p.Ser218=)
n.332+987G>C
2g.240874036G=CA1339333585AGXTc.654G= (p.Ser218=)
n.332+987G=
2g.240874036G>TCA432024211AGXTc.654G>T (p.Ser218=)
n.332+987G>T
2g.240874037C>ACA351316992AGXTc.655C>A (p.Leu219Ile)
n.332+988C>A
2g.240874037C=CA1339333586AGXTc.655C= (p.Leu219=)
n.332+988C=
2g.240874037C>GCA351316993AGXTc.655C>G (p.Leu219Val)
n.332+988C>G
2g.240874037C>TCA351316999AGXTc.655C>T (p.Leu219Phe)
n.332+988C>T
dbSNP gnomAD v2 gnomAD v4
2g.240874038T>ACA351317001AGXTc.656T>A (p.Leu219His)
n.332+989T>A
2g.240874038T>CCA351317003AGXTc.656T>C (p.Leu219Pro)
n.332+989T>C
2g.240874038T>GCA351317004AGXTc.656T>G (p.Leu219Arg)
n.332+989T>G
2g.240874039C>ACA432024216AGXTc.657C>A (p.Leu219=)
n.332+990C>A
COSMIC
2g.240874039C>GCA432024217AGXTc.657C>G (p.Leu219=)
n.332+990C>G
2g.240874039C>TCA432024219AGXTc.657C>T (p.Leu219=)
n.332+990C>T
gnomAD v4 COSMIC
2g.240874040A>CCA351317011AGXTc.658A>C (p.Ile220Leu)
n.332+991A>C
gnomAD v4
2g.240874040A>GCA351317009AGXTc.658A>G (p.Ile220Val)
n.332+991A>G
gnomAD v4
2g.240874040A>TCA351317007AGXTc.658A>T (p.Ile220Phe)
n.332+991A>T
ClinVar
2g.240874041T>ACA351317013AGXTc.659T>A (p.Ile220Asn)
n.332+992T>A
2g.240874041T>CCA68179282AGXTc.659T>C (p.Ile220Thr)
n.332+992T>C
dbSNP
2g.240874041T>GCA351317015AGXTc.659T>G (p.Ile220Ser)
n.332+992T>G

Number of alleles fetched