| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 17 | g.80105885G>C | CA401362589 | GAA | c.683G>C (p.Gly228Ala) | |
| 17 | g.80105885G= | CA2277811295 | GAA | c.683G= (p.Gly228=) | |
| 17 | g.80105885G>T | CA401362593 | GAA | c.683G>T (p.Gly228Val) | gnomAD v4 |
| 17 | g.80105886C>A | CA502177669 | GAA | c.684C>A (p.Gly228=) | |
| 17 | g.80105886C= | CA2277811297 | GAA | c.684C= (p.Gly228=) | |
| 17 | g.80105886C>G | CA502177671 | GAA | c.684C>G (p.Gly228=) | |
| 17 | g.80105886C>T | CA502177670 | GAA | c.684C>T (p.Gly228=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80105887dup | CA2965196322 | GAA | c.685dup (p.Arg229ProfsTer?) | |
| 17 | g.80105887del | CA2965196302 | GAA | c.685del (p.Arg229AlafsTer4) | |
| 17 | g.80105886_80105888delinsCCG | CA2277811296 | GAA | c.684_686delinsCCG (p.Gly228=) | |
| 17 | g.80105887C>A | CA401362596 | GAA | c.685C>A (p.Arg229Ser) | gnomAD v4 |
| 17 | g.80105887C= | CA2277811298 | GAA | c.685C= (p.Arg229=) | |
| 17 | g.80105887C>G | CA401362600 | GAA | c.685C>G (p.Arg229Gly) | |
| 17 | g.80105887C>T | CA8814962 | GAA | c.685C>T (p.Arg229Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105887_80105888insCGGC | CA658795233 | GAA | c.685_686insCGGC (p.Arg229ProfsTer?) | |
| 17 | g.80105889_80105890del | CA775509910 | GAA | c.687_688del (p.Val230AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80105888del | CA2838388729 | GAA | c.686del (p.Arg229ProfsTer4) | |
| 17 | g.80105888G>A | CA8814963 | GAA | c.686G>A (p.Arg229His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105888G>C | CA401362603 | GAA | c.686G>C (p.Arg229Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80105888G= | CA2277811299 | GAA | c.686G= (p.Arg229=) | |
| 17 | g.80105888G>T | CA401362606 | GAA | c.686G>T (p.Arg229Leu) | gnomAD v4 |
| 17 | g.80105889C>A | CA502177672 | GAA | c.687C>A (p.Arg229=) | gnomAD v4 |
| 17 | g.80105889C= | CA2277811300 | GAA | c.687C= (p.Arg229=) | |
| 17 | g.80105889C>G | CA502177673 | GAA | c.687C>G (p.Arg229=) | |
| 17 | g.80105889C>T | CA8814964 | GAA | c.687C>T (p.Arg229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80105889dup | CA2965196359 | GAA | c.687dup (p.Val230ArgfsTer?) | |
| 17 | g.80105890G>A | CA207869 | GAA | c.688G>A (p.Val230Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105890G>C | CA401362611 | GAA | c.688G>C (p.Val230Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105890G= | CA2277811301 | GAA | c.688G= (p.Val230=) | |
| 17 | g.80105890G>T | CA401362614 | GAA | c.688G>T (p.Val230Leu) | gnomAD v4 COSMIC |
| 17 | g.80105891T>A | CA401362615 | GAA | c.689T>A (p.Val230Glu) |