Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del | ClinVar |
17 | g.80105869_80105870delinsTA | CA2499224999 | GAA | c.667_668delinsTA (p.Arg223Tyr) | ClinVar dbSNP |
17 | g.80105870G>A | CA145791 | GAA | c.668G>A (p.Arg223His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105870G>C | CA401362510 | GAA | c.668G>C (p.Arg223Pro) | dbSNP gnomAD v4 |
17 | g.80105870G= | CA2277811286 | GAA | c.668G= (p.Arg223=) | |
17 | g.80105870G>T | CA401362512 | GAA | c.668G>T (p.Arg223Leu) | gnomAD v4 |
17 | g.80105871C>A | CA502177657 | GAA | c.669C>A (p.Arg223=) | |
17 | g.80105871C>G | CA502177658 | GAA | c.669C>G (p.Arg223=) | |
17 | g.80105871C>T | CA502177659 | GAA | c.669C>T (p.Arg223=) | gnomAD v4 |
17 | g.80105872C>A | CA502177660 | GAA | c.670C>A (p.Arg224=) | |
17 | g.80105872C= | CA2277811287 | GAA | c.670C= (p.Arg224=) | |
17 | g.80105872C>G | CA401362516 | GAA | c.670C>G (p.Arg224Gly) | gnomAD v4 |
17 | g.80105872C>T | CA274477 | GAA | c.670C>T (p.Arg224Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105873G>A | CA8814958 | GAA | c.671G>A (p.Arg224Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105873G>C | CA401362527 | GAA | c.671G>C (p.Arg224Pro) | ClinVar dbSNP gnomAD v2 |
17 | g.80105873G= | CA2277811288 | GAA | c.671G= (p.Arg224=) | |
17 | g.80105873G>T | CA401362528 | GAA | c.671G>T (p.Arg224Leu) | ClinVar |
17 | g.80105874G>A | CA502177661 | GAA | c.672G>A (p.Arg224=) | gnomAD v4 |
17 | g.80105874G>C | CA502177663 | GAA | c.672G>C (p.Arg224=) | |
17 | g.80105874G>T | CA502177662 | GAA | c.672G>T (p.Arg224=) | gnomAD v4 |
17 | g.80105875C>A | CA401362531 | GAA | c.673C>A (p.Gln225Lys) | gnomAD v4 |
17 | g.80105875C>G | CA401362532 | GAA | c.673C>G (p.Gln225Glu) | |
17 | g.80105875C>T | CA401362533 | GAA | c.673C>T (p.Gln225Ter) | gnomAD v4 |
17 | g.80105876A>C | CA401362534 | GAA | c.674A>C (p.Gln225Pro) | |
17 | g.80105876A>G | CA401362535 | GAA | c.674A>G (p.Gln225Arg) | |
17 | g.80105876A>T | CA401362536 | GAA | c.674A>T (p.Gln225Leu) | |
17 | g.80105877G>A | CA502177664 | GAA | c.675G>A (p.Gln225=) | |
17 | g.80105877G>C | CA401362538 | GAA | c.675G>C (p.Gln225His) | |
17 | g.80105877G>T | CA401362539 | GAA | c.675G>T (p.Gln225His) | gnomAD v4 |
17 | g.80105878C>A | CA401362541 | GAA | c.676C>A (p.Leu226Met) | gnomAD v4 |
17 | g.80105878C= | CA2277811289 | GAA | c.676C= (p.Leu226=) | |
17 | g.80105878C>G | CA198772 | GAA | c.676C>G (p.Leu226Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105878C>T | CA502177665 | GAA | c.676C>T (p.Leu226=) | gnomAD v4 |
17 | g.80105879T>A | CA401362557 | GAA | c.677T>A (p.Leu226Gln) | |
17 | g.80105879T>C | CA8814959 | GAA | c.677T>C (p.Leu226Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105879T>G | CA401362545 | GAA | c.677T>G (p.Leu226Arg) | |
17 | g.80105879T= | CA2277811290 | GAA | c.677T= (p.Leu226=) | |
17 | g.80105880G>A | CA502177666 | GAA | c.678G>A (p.Leu226=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105880G>C | CA502177667 | GAA | c.678G>C (p.Leu226=) | |
17 | g.80105880G= | CA2277811291 | GAA | c.678G= (p.Leu226=) | |
17 | g.80105880G>T | CA502177668 | GAA | c.678G>T (p.Leu226=) | ClinVar gnomAD v4 |
17 | g.80105881G>A | CA401362563 | GAA | c.679G>A (p.Asp227Asn) | gnomAD v4 |
17 | g.80105881G>C | CA401362559 | GAA | c.679G>C (p.Asp227His) | |
17 | g.80105881G= | CA2277811292 | GAA | c.679G= (p.Asp227=) | |
17 | g.80105881G>T | CA401362561 | GAA | c.679G>T (p.Asp227Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105882A>C | CA401362565 | GAA | c.680A>C (p.Asp227Ala) | |
17 | g.80105882A>G | CA401362568 | GAA | c.680A>G (p.Asp227Gly) | gnomAD v4 |
17 | g.80105882A>T | CA401362571 | GAA | c.680A>T (p.Asp227Val) | |
17 | g.80105883del | CA2640278262 | GAA | c.681del (p.Asp227GlufsTer6) | gnomAD v4 |
17 | g.80105883C>A | CA401362576 | GAA | c.681C>A (p.Asp227Glu) |