Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73914828_73914841delCA2659641889ACTG2c.762_775del (p.Glu254AspfsTer2)
c.633_646del (p.Glu211AspfsTer2)
c.*827_*840del (n.*827_*840del)
gnomAD v4
2g.73914836G>ACA204921ACTG2c.770G>A (p.Arg257His)
c.641G>A (p.Arg214His)
c.*835G>A (n.*835G>A)
ClinVar dbSNP gnomAD v4
2g.73914836G>CCA347304439ACTG2c.770G>C (p.Arg257Pro)
c.641G>C (p.Arg214Pro)
c.*835G>C (n.*835G>C)
2g.73914836G=CA1261181376ACTG2c.770G= (p.Arg257=)
c.641G= (p.Arg214=)
c.*835G= (n.*835G=)
2g.73914836G>TCA347304440ACTG2c.770G>T (p.Arg257Leu)
c.641G>T (p.Arg214Leu)
c.*835G>T (n.*835G>T)
COSMIC
2g.73914837C>ACA426798943ACTG2c.771C>A (p.Arg257=)
c.642C>A (p.Arg214=)
c.*836C>A (n.*836C>A)
2g.73914837C=CA1261181377ACTG2c.771C= (p.Arg257=)
c.642C= (p.Arg214=)
c.*836C= (n.*836C=)
2g.73914837C>GCA426798945ACTG2c.771C>G (p.Arg257=)
c.642C>G (p.Arg214=)
c.*836C>G (n.*836C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73914837C>TCA426798947ACTG2c.771C>T (p.Arg257=)
c.642C>T (p.Arg214=)
c.*836C>T (n.*836C>T)
2g.73914838T>ACA347304441ACTG2c.772T>A (p.Cys258Ser)
c.643T>A (p.Cys215Ser)
c.*837T>A (n.*837T>A)
2g.73914838T>CCA347304442ACTG2c.772T>C (p.Cys258Arg)
c.643T>C (p.Cys215Arg)
c.*837T>C (n.*837T>C)
2g.73914838T>GCA347304443ACTG2c.772T>G (p.Cys258Gly)
c.643T>G (p.Cys215Gly)
c.*837T>G (n.*837T>G)
2g.73914839G>ACA347304444ACTG2c.773G>A (p.Cys258Tyr)
c.644G>A (p.Cys215Tyr)
c.*838G>A (n.*838G>A)
2g.73914839G>CCA347304446ACTG2c.773G>C (p.Cys258Ser)
c.644G>C (p.Cys215Ser)
c.*838G>C (n.*838G>C)
2g.73914839G>TCA347304445ACTG2c.773G>T (p.Cys258Phe)
c.644G>T (p.Cys215Phe)
c.*838G>T (n.*838G>T)
2g.73914840C>ACA347304447ACTG2c.774C>A (p.Cys258Ter)
c.645C>A (p.Cys215Ter)
c.*839C>A (n.*839C>A)
2g.73914840C=CA1261181378ACTG2c.774C= (p.Cys258=)
c.645C= (p.Cys215=)
c.*839C= (n.*839C=)
2g.73914840C>GCA347304448ACTG2c.774C>G (p.Cys258Trp)
c.645C>G (p.Cys215Trp)
c.*839C>G (n.*839C>G)
2g.73914840C>TCA1718024ACTG2c.774C>T (p.Cys258=)
c.645C>T (p.Cys215=)
c.*839C>T (n.*839C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73914841C>ACA347304449ACTG2c.775C>A (p.Pro259Thr)
c.646C>A (p.Pro216Thr)
c.*840C>A (n.*840C>A)
2g.73914841C=CA1261181379ACTG2c.775C= (p.Pro259=)
c.646C= (p.Pro216=)
c.*840C= (n.*840C=)
2g.73914841C>GCA347304450ACTG2c.775C>G (p.Pro259Ala)
c.646C>G (p.Pro216Ala)
c.*840C>G (n.*840C>G)
2g.73914841C>TCA347304451ACTG2c.775C>T (p.Pro259Ser)
c.646C>T (p.Pro216Ser)
c.*840C>T (n.*840C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73914842C>ACA347304452ACTG2c.776C>A (p.Pro259His)
c.647C>A (p.Pro216His)
c.*841C>A (n.*841C>A)
gnomAD v4
2g.73914842C>GCA347304453ACTG2c.776C>G (p.Pro259Arg)
c.647C>G (p.Pro216Arg)
c.*841C>G (n.*841C>G)
2g.73914842C>TCA347304454ACTG2c.776C>T (p.Pro259Leu)
c.647C>T (p.Pro216Leu)
c.*841C>T (n.*841C>T)
2g.73914843T>ACA426798974ACTG2c.777T>A (p.Pro259=)
c.648T>A (p.Pro216=)
c.*842T>A (n.*842T>A)
gnomAD v4
2g.73914843T>CCA50423477ACTG2c.777T>C (p.Pro259=)
c.648T>C (p.Pro216=)
c.*842T>C (n.*842T>C)
dbSNP gnomAD v4
2g.73914843T>GCA426798977ACTG2c.777T>G (p.Pro259=)
c.648T>G (p.Pro216=)
c.*842T>G (n.*842T>G)
gnomAD v4
2g.73914843T=CA1261181380ACTG2c.777T= (p.Pro259=)
c.648T= (p.Pro216=)
c.*842T= (n.*842T=)
2g.73914844G>ACA347304455ACTG2c.778G>A (p.Glu260Lys)
c.649G>A (p.Glu217Lys)
c.*843G>A (n.*843G>A)
2g.73914844G>CCA347304456ACTG2c.778G>C (p.Glu260Gln)
c.649G>C (p.Glu217Gln)
c.*843G>C (n.*843G>C)
2g.73914844G>TCA347304457ACTG2c.778G>T (p.Glu260Ter)
c.649G>T (p.Glu217Ter)
c.*843G>T (n.*843G>T)
2g.73914845A>CCA347304460ACTG2c.779A>C (p.Glu260Ala)
c.650A>C (p.Glu217Ala)
c.*844A>C (n.*844A>C)
2g.73914845A>GCA347304459ACTG2c.779A>G (p.Glu260Gly)
c.650A>G (p.Glu217Gly)
c.*844A>G (n.*844A>G)
2g.73914845A>TCA347304458ACTG2c.779A>T (p.Glu260Val)
c.650A>T (p.Glu217Val)
c.*844A>T (n.*844A>T)
2g.73914846G>ACA426798990ACTG2c.780G>A (p.Glu260=)
c.651G>A (p.Glu217=)
c.*845G>A (n.*845G>A)
gnomAD v4
2g.73914846G>CCA347304461ACTG2c.780G>C (p.Glu260Asp)
c.651G>C (p.Glu217Asp)
c.*845G>C (n.*845G>C)
2g.73914846G>TCA347304462ACTG2c.780G>T (p.Glu260Asp)
c.651G>T (p.Glu217Asp)
c.*845G>T (n.*845G>T)
2g.73914847A=CA1261181381ACTG2c.781A= (p.Thr261=)
c.652A= (p.Thr218=)
c.*846A= (n.*846A=)
2g.73914847A>CCA347304463ACTG2c.781A>C (p.Thr261Pro)
c.652A>C (p.Thr218Pro)
c.*846A>C (n.*846A>C)
dbSNP
2g.73914847A>GCA347304464ACTG2c.781A>G (p.Thr261Ala)
c.652A>G (p.Thr218Ala)
c.*846A>G (n.*846A>G)
2g.73914847A>TCA347304465ACTG2c.781A>T (p.Thr261Ser)
c.652A>T (p.Thr218Ser)
c.*846A>T (n.*846A>T)
2g.73914848C>ACA347304466ACTG2c.782C>A (p.Thr261Asn)
c.653C>A (p.Thr218Asn)
c.*847C>A (n.*847C>A)
2g.73914848C=CA1261181382ACTG2c.782C= (p.Thr261=)
c.653C= (p.Thr218=)
c.*847C= (n.*847C=)
2g.73914848C>GCA347304467ACTG2c.782C>G (p.Thr261Ser)
c.653C>G (p.Thr218Ser)
c.*847C>G (n.*847C>G)
2g.73914848C>TCA50423482ACTG2c.782C>T (p.Thr261Ile)
c.653C>T (p.Thr218Ile)
c.*847C>T (n.*847C>T)
dbSNP
2g.73914849C>ACA426799010ACTG2c.783C>A (p.Thr261=)
c.654C>A (p.Thr218=)
c.*848C>A (n.*848C>A)
gnomAD v4
2g.73914849C=CA1261181383ACTG2c.783C= (p.Thr261=)
c.654C= (p.Thr218=)
c.*848C= (n.*848C=)
2g.73914849C>GCA426799012ACTG2c.783C>G (p.Thr261=)
c.654C>G (p.Thr218=)
c.*848C>G (n.*848C>G)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched