Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73914828_73914841del | CA2659641889 | ACTG2 | c.762_775del (p.Glu254AspfsTer2) c.633_646del (p.Glu211AspfsTer2) c.*827_*840del (n.*827_*840del) | gnomAD v4 |
2 | g.73914836G>A | CA204921 | ACTG2 | c.770G>A (p.Arg257His) c.641G>A (p.Arg214His) c.*835G>A (n.*835G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.73914836G>C | CA347304439 | ACTG2 | c.770G>C (p.Arg257Pro) c.641G>C (p.Arg214Pro) c.*835G>C (n.*835G>C) | |
2 | g.73914836G= | CA1261181376 | ACTG2 | c.770G= (p.Arg257=) c.641G= (p.Arg214=) c.*835G= (n.*835G=) | |
2 | g.73914836G>T | CA347304440 | ACTG2 | c.770G>T (p.Arg257Leu) c.641G>T (p.Arg214Leu) c.*835G>T (n.*835G>T) | COSMIC |
2 | g.73914837C>A | CA426798943 | ACTG2 | c.771C>A (p.Arg257=) c.642C>A (p.Arg214=) c.*836C>A (n.*836C>A) | |
2 | g.73914837C= | CA1261181377 | ACTG2 | c.771C= (p.Arg257=) c.642C= (p.Arg214=) c.*836C= (n.*836C=) | |
2 | g.73914837C>G | CA426798945 | ACTG2 | c.771C>G (p.Arg257=) c.642C>G (p.Arg214=) c.*836C>G (n.*836C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73914837C>T | CA426798947 | ACTG2 | c.771C>T (p.Arg257=) c.642C>T (p.Arg214=) c.*836C>T (n.*836C>T) | |
2 | g.73914838T>A | CA347304441 | ACTG2 | c.772T>A (p.Cys258Ser) c.643T>A (p.Cys215Ser) c.*837T>A (n.*837T>A) | |
2 | g.73914838T>C | CA347304442 | ACTG2 | c.772T>C (p.Cys258Arg) c.643T>C (p.Cys215Arg) c.*837T>C (n.*837T>C) | |
2 | g.73914838T>G | CA347304443 | ACTG2 | c.772T>G (p.Cys258Gly) c.643T>G (p.Cys215Gly) c.*837T>G (n.*837T>G) | |
2 | g.73914839G>A | CA347304444 | ACTG2 | c.773G>A (p.Cys258Tyr) c.644G>A (p.Cys215Tyr) c.*838G>A (n.*838G>A) | |
2 | g.73914839G>C | CA347304446 | ACTG2 | c.773G>C (p.Cys258Ser) c.644G>C (p.Cys215Ser) c.*838G>C (n.*838G>C) | |
2 | g.73914839G>T | CA347304445 | ACTG2 | c.773G>T (p.Cys258Phe) c.644G>T (p.Cys215Phe) c.*838G>T (n.*838G>T) | |
2 | g.73914840C>A | CA347304447 | ACTG2 | c.774C>A (p.Cys258Ter) c.645C>A (p.Cys215Ter) c.*839C>A (n.*839C>A) | |
2 | g.73914840C= | CA1261181378 | ACTG2 | c.774C= (p.Cys258=) c.645C= (p.Cys215=) c.*839C= (n.*839C=) | |
2 | g.73914840C>G | CA347304448 | ACTG2 | c.774C>G (p.Cys258Trp) c.645C>G (p.Cys215Trp) c.*839C>G (n.*839C>G) | |
2 | g.73914840C>T | CA1718024 | ACTG2 | c.774C>T (p.Cys258=) c.645C>T (p.Cys215=) c.*839C>T (n.*839C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73914841C>A | CA347304449 | ACTG2 | c.775C>A (p.Pro259Thr) c.646C>A (p.Pro216Thr) c.*840C>A (n.*840C>A) | |
2 | g.73914841C= | CA1261181379 | ACTG2 | c.775C= (p.Pro259=) c.646C= (p.Pro216=) c.*840C= (n.*840C=) | |
2 | g.73914841C>G | CA347304450 | ACTG2 | c.775C>G (p.Pro259Ala) c.646C>G (p.Pro216Ala) c.*840C>G (n.*840C>G) | |
2 | g.73914841C>T | CA347304451 | ACTG2 | c.775C>T (p.Pro259Ser) c.646C>T (p.Pro216Ser) c.*840C>T (n.*840C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73914842C>A | CA347304452 | ACTG2 | c.776C>A (p.Pro259His) c.647C>A (p.Pro216His) c.*841C>A (n.*841C>A) | gnomAD v4 |
2 | g.73914842C>G | CA347304453 | ACTG2 | c.776C>G (p.Pro259Arg) c.647C>G (p.Pro216Arg) c.*841C>G (n.*841C>G) | |
2 | g.73914842C>T | CA347304454 | ACTG2 | c.776C>T (p.Pro259Leu) c.647C>T (p.Pro216Leu) c.*841C>T (n.*841C>T) | |
2 | g.73914843T>A | CA426798974 | ACTG2 | c.777T>A (p.Pro259=) c.648T>A (p.Pro216=) c.*842T>A (n.*842T>A) | gnomAD v4 |
2 | g.73914843T>C | CA50423477 | ACTG2 | c.777T>C (p.Pro259=) c.648T>C (p.Pro216=) c.*842T>C (n.*842T>C) | dbSNP gnomAD v4 |
2 | g.73914843T>G | CA426798977 | ACTG2 | c.777T>G (p.Pro259=) c.648T>G (p.Pro216=) c.*842T>G (n.*842T>G) | gnomAD v4 |
2 | g.73914843T= | CA1261181380 | ACTG2 | c.777T= (p.Pro259=) c.648T= (p.Pro216=) c.*842T= (n.*842T=) | |
2 | g.73914844G>A | CA347304455 | ACTG2 | c.778G>A (p.Glu260Lys) c.649G>A (p.Glu217Lys) c.*843G>A (n.*843G>A) | |
2 | g.73914844G>C | CA347304456 | ACTG2 | c.778G>C (p.Glu260Gln) c.649G>C (p.Glu217Gln) c.*843G>C (n.*843G>C) | |
2 | g.73914844G>T | CA347304457 | ACTG2 | c.778G>T (p.Glu260Ter) c.649G>T (p.Glu217Ter) c.*843G>T (n.*843G>T) | |
2 | g.73914845A>C | CA347304460 | ACTG2 | c.779A>C (p.Glu260Ala) c.650A>C (p.Glu217Ala) c.*844A>C (n.*844A>C) | |
2 | g.73914845A>G | CA347304459 | ACTG2 | c.779A>G (p.Glu260Gly) c.650A>G (p.Glu217Gly) c.*844A>G (n.*844A>G) | |
2 | g.73914845A>T | CA347304458 | ACTG2 | c.779A>T (p.Glu260Val) c.650A>T (p.Glu217Val) c.*844A>T (n.*844A>T) | |
2 | g.73914846G>A | CA426798990 | ACTG2 | c.780G>A (p.Glu260=) c.651G>A (p.Glu217=) c.*845G>A (n.*845G>A) | gnomAD v4 |
2 | g.73914846G>C | CA347304461 | ACTG2 | c.780G>C (p.Glu260Asp) c.651G>C (p.Glu217Asp) c.*845G>C (n.*845G>C) | |
2 | g.73914846G>T | CA347304462 | ACTG2 | c.780G>T (p.Glu260Asp) c.651G>T (p.Glu217Asp) c.*845G>T (n.*845G>T) | |
2 | g.73914847A= | CA1261181381 | ACTG2 | c.781A= (p.Thr261=) c.652A= (p.Thr218=) c.*846A= (n.*846A=) | |
2 | g.73914847A>C | CA347304463 | ACTG2 | c.781A>C (p.Thr261Pro) c.652A>C (p.Thr218Pro) c.*846A>C (n.*846A>C) | dbSNP |
2 | g.73914847A>G | CA347304464 | ACTG2 | c.781A>G (p.Thr261Ala) c.652A>G (p.Thr218Ala) c.*846A>G (n.*846A>G) | |
2 | g.73914847A>T | CA347304465 | ACTG2 | c.781A>T (p.Thr261Ser) c.652A>T (p.Thr218Ser) c.*846A>T (n.*846A>T) | |
2 | g.73914848C>A | CA347304466 | ACTG2 | c.782C>A (p.Thr261Asn) c.653C>A (p.Thr218Asn) c.*847C>A (n.*847C>A) | |
2 | g.73914848C= | CA1261181382 | ACTG2 | c.782C= (p.Thr261=) c.653C= (p.Thr218=) c.*847C= (n.*847C=) | |
2 | g.73914848C>G | CA347304467 | ACTG2 | c.782C>G (p.Thr261Ser) c.653C>G (p.Thr218Ser) c.*847C>G (n.*847C>G) | |
2 | g.73914848C>T | CA50423482 | ACTG2 | c.782C>T (p.Thr261Ile) c.653C>T (p.Thr218Ile) c.*847C>T (n.*847C>T) | dbSNP |
2 | g.73914849C>A | CA426799010 | ACTG2 | c.783C>A (p.Thr261=) c.654C>A (p.Thr218=) c.*848C>A (n.*848C>A) | gnomAD v4 |
2 | g.73914849C= | CA1261181383 | ACTG2 | c.783C= (p.Thr261=) c.654C= (p.Thr218=) c.*848C= (n.*848C=) | |
2 | g.73914849C>G | CA426799012 | ACTG2 | c.783C>G (p.Thr261=) c.654C>G (p.Thr218=) c.*848C>G (n.*848C>G) | dbSNP gnomAD v3 gnomAD v4 |