| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80104542_80105903del | CA3267944104 | GAA | c.-32-13_692+9del | |
| 17 | g.80104542_80105914del | CA3260672447 | GAA | c.-32-13_692+20del | |
| 17 | g.80104620_80105905del | CA3267944116 | GAA | c.34_692+11del | |
| 17 | g.80104786_80105906del | CA3267944118 | GAA | c.200_692+12del | |
| 17 | g.80104893_80105903del | CA3267944126 | GAA | c.307_692+9del | |
| 17 | g.80105111_80105903del | CA3267944128 | GAA | c.525_692+9del | |
| 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= | CA3227603434 | GAA | c.675G= (p.Gln225=) | dbSNP |
| 17 | g.80105877G>T | CA401362539 | GAA | c.675G>T (p.Gln225His) | dbSNP 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=) | dbSNP |
| 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) | ClinVar |
| 17 | g.80105879T= | CA2277811290 | GAA | c.677T= (p.Leu226=) | dbSNP |
| 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=) | dbSNP |
| 17 | g.80105880G>T | CA502177668 | GAA | c.678G>T (p.Leu226=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80105881del | CA2965196211 | GAA | c.679del (p.Asp227ThrfsTer6) | ClinVar |
| 17 | g.80105881G>A | CA401362563 | GAA | c.679G>A (p.Asp227Asn) | dbSNP gnomAD v4 |
| 17 | g.80105881G>C | CA401362559 | GAA | c.679G>C (p.Asp227His) | |
| 17 | g.80105881G= | CA2277811292 | GAA | c.679G= (p.Asp227=) | dbSNP |
| 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) | dbSNP gnomAD v4 |
| 17 | g.80105883C>A | CA401362576 | GAA | c.681C>A (p.Asp227Glu) | |
| 17 | g.80105883C= | CA2277811293 | GAA | c.681C= (p.Asp227=) | dbSNP dbSNP |
| 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) | dbSNP gnomAD v4 |
| 17 | g.80105884G= | CA2277811294 | GAA | c.682G= (p.Gly228=) | dbSNP |
| 17 | g.80105884G>T | CA401362582 | GAA | c.682G>T (p.Gly228Cys) | dbSNP 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=) | dbSNP |
| 17 | g.80105885G>T | CA401362593 | GAA | c.683G>T (p.Gly228Val) | gnomAD v4 |
| 17 | g.80105886C>A | CA502177669 | GAA | c.684C>A (p.Gly228=) |