| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.80105874del | CA2965196113 | GAA | c.672del (p.Gln225SerfsTer8) | |
| 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.80105878del | CA2965196192 | GAA | c.676del (p.Leu226TrpfsTer7) | |
| 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.80105878dup | CA2965196164 | GAA | c.676dup (p.Leu226ProfsTer?) | |
| 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.80105881del | CA2965196211 | GAA | c.679del (p.Asp227ThrfsTer6) | |
| 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) | |
| 17 | g.80105883C= | CA2277811293 | GAA | c.681C= (p.Asp227=) | |
| 17 | g.80105883C>G | CA401362575 | GAA | c.681C>G (p.Asp227Glu) | |
| 17 | g.80105883C>T | CA8814960 | GAA | c.681C>T (p.Asp227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105884G>A | CA8814961 | GAA | c.682G>A (p.Gly228Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105884G>C | CA401362580 | GAA | c.682G>C (p.Gly228Arg) | gnomAD v4 |
| 17 | g.80105884G= | CA2277811294 | GAA | c.682G= (p.Gly228=) | |
| 17 | g.80105884G>T | CA401362582 | GAA | c.682G>T (p.Gly228Cys) | gnomAD v4 |
| 17 | g.80105885dup | CA2499225000 | GAA | c.683dup (p.Arg229ProfsTer?) | ClinVar dbSNP |
| 17 | g.80105885G>A | CA401362586 | GAA | c.683G>A (p.Gly228Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |