Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.63623586_63623607del | CA2646031089 | PGM1 | c.247-5839_247-5818del (n.247-5839_247-5818del) c.126_147del (p.Lys43SerfsTer16) c.-345-5839_-345-5818del (n.-345-5839_-345-5818del) | gnomAD v4 |
1 | g.63623602G>A | CA340643547 | PGM1 | c.247-5823G>A (n.247-5823G>A) c.142G>A (p.Glu48Lys) c.-345-5823G>A (n.-345-5823G>A) | |
1 | g.63623602G>C | CA340643542 | PGM1 | c.247-5823G>C (n.247-5823G>C) c.142G>C (p.Glu48Gln) c.-345-5823G>C (n.-345-5823G>C) | |
1 | g.63623602G>T | CA340643544 | PGM1 | c.247-5823G>T (n.247-5823G>T) c.142G>T (p.Glu48Ter) c.-345-5823G>T (n.-345-5823G>T) | |
1 | g.63623603A>C | CA340643548 | PGM1 | c.247-5822A>C (n.247-5822A>C) c.143A>C (p.Glu48Ala) c.-345-5822A>C (n.-345-5822A>C) | |
1 | g.63623603A>G | CA340643551 | PGM1 | c.247-5822A>G (n.247-5822A>G) c.143A>G (p.Glu48Gly) c.-345-5822A>G (n.-345-5822A>G) | |
1 | g.63623603A>T | CA340643552 | PGM1 | c.247-5822A>T (n.247-5822A>T) c.143A>T (p.Glu48Val) c.-345-5822A>T (n.-345-5822A>T) | |
1 | g.63623604G>A | CA889448 | PGM1 | c.247-5821G>A (n.247-5821G>A) c.144G>A (p.Glu48=) c.-345-5821G>A (n.-345-5821G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63623604G>C | CA340643553 | PGM1 | c.247-5821G>C (n.247-5821G>C) c.144G>C (p.Glu48Asp) c.-345-5821G>C (n.-345-5821G>C) | |
1 | g.63623604G= | CA1171568742 | PGM1 | c.247-5821G= (n.247-5821G=) c.144G= (p.Glu48=) c.-345-5821G= (n.-345-5821G=) | |
1 | g.63623604G>T | CA340643554 | PGM1 | c.247-5821G>T (n.247-5821G>T) c.144G>T (p.Glu48Asp) c.-345-5821G>T (n.-345-5821G>T) | |
1 | g.63623605G>A | CA340643555 | PGM1 | c.247-5820G>A (n.247-5820G>A) c.145G>A (p.Glu49Lys) c.-345-5820G>A (n.-345-5820G>A) | |
1 | g.63623605G>C | CA340643556 | PGM1 | c.247-5820G>C (n.247-5820G>C) c.145G>C (p.Glu49Gln) c.-345-5820G>C (n.-345-5820G>C) | |
1 | g.63623605G>T | CA340643558 | PGM1 | c.247-5820G>T (n.247-5820G>T) c.145G>T (p.Glu49Ter) c.-345-5820G>T (n.-345-5820G>T) | |
1 | g.63623606A>C | CA340643562 | PGM1 | c.247-5819A>C (n.247-5819A>C) c.146A>C (p.Glu49Ala) c.-345-5819A>C (n.-345-5819A>C) | |
1 | g.63623606A>G | CA340643565 | PGM1 | c.247-5819A>G (n.247-5819A>G) c.146A>G (p.Glu49Gly) c.-345-5819A>G (n.-345-5819A>G) | |
1 | g.63623606A>T | CA340643567 | PGM1 | c.247-5819A>T (n.247-5819A>T) c.146A>T (p.Glu49Val) c.-345-5819A>T (n.-345-5819A>T) | |
1 | g.63623607A= | CA1171568743 | PGM1 | c.247-5818A= (n.247-5818A=) c.147A= (p.Glu49=) c.-345-5818A= (n.-345-5818A=) | |
1 | g.63623607A>C | CA340643571 | PGM1 | c.247-5818A>C (n.247-5818A>C) c.147A>C (p.Glu49Asp) c.-345-5818A>C (n.-345-5818A>C) | |
1 | g.63623607A>G | CA418205762 | PGM1 | c.247-5818A>G (n.247-5818A>G) c.147A>G (p.Glu49=) c.-345-5818A>G (n.-345-5818A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63623607A>T | CA340643570 | PGM1 | c.247-5818A>T (n.247-5818A>T) c.147A>T (p.Glu49Asp) c.-345-5818A>T (n.-345-5818A>T) | |
1 | g.63623608A>C | CA340643574 | PGM1 | c.247-5817A>C (n.247-5817A>C) c.148A>C (p.Lys50Gln) c.-345-5817A>C (n.-345-5817A>C) | |
1 | g.63623608A>G | CA340643576 | PGM1 | c.247-5817A>G (n.247-5817A>G) c.148A>G (p.Lys50Glu) c.-345-5817A>G (n.-345-5817A>G) | |
1 | g.63623608A>T | CA340643575 | PGM1 | c.247-5817A>T (n.247-5817A>T) c.148A>T (p.Lys50Ter) c.-345-5817A>T (n.-345-5817A>T) | |
1 | g.63623609A= | CA1171568744 | PGM1 | c.247-5816A= (n.247-5816A=) c.149A= (p.Lys50=) c.-345-5816A= (n.-345-5816A=) | |
1 | g.63623609A>C | CA340643577 | PGM1 | c.247-5816A>C (n.247-5816A>C) c.149A>C (p.Lys50Thr) c.-345-5816A>C (n.-345-5816A>C) | |
1 | g.63623609A>G | CA889449 | PGM1 | c.247-5816A>G (n.247-5816A>G) c.149A>G (p.Lys50Arg) c.-345-5816A>G (n.-345-5816A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63623609A>T | CA340643579 | PGM1 | c.247-5816A>T (n.247-5816A>T) c.149A>T (p.Lys50Met) c.-345-5816A>T (n.-345-5816A>T) | |
1 | g.63623610G>A | CA418205770 | PGM1 | c.247-5815G>A (n.247-5815G>A) c.150G>A (p.Lys50=) c.-345-5815G>A (n.-345-5815G>A) | |
1 | g.63623610G>C | CA340643581 | PGM1 | c.247-5815G>C (n.247-5815G>C) c.150G>C (p.Lys50Asn) c.-345-5815G>C (n.-345-5815G>C) | |
1 | g.63623610G>T | CA340643583 | PGM1 | c.247-5815G>T (n.247-5815G>T) c.150G>T (p.Lys50Asn) c.-345-5815G>T (n.-345-5815G>T) | |
1 | g.63623611C>A | CA340643586 | PGM1 | c.247-5814C>A (n.247-5814C>A) c.151C>A (p.Pro51Thr) c.-345-5814C>A (n.-345-5814C>A) | |
1 | g.63623611C= | CA1171568745 | PGM1 | c.247-5814C= (n.247-5814C=) c.151C= (p.Pro51=) c.-345-5814C= (n.-345-5814C=) | |
1 | g.63623611C>G | CA889450 | PGM1 | c.247-5814C>G (n.247-5814C>G) c.151C>G (p.Pro51Ala) c.-345-5814C>G (n.-345-5814C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63623611C>T | CA340643590 | PGM1 | c.247-5814C>T (n.247-5814C>T) c.151C>T (p.Pro51Ser) c.-345-5814C>T (n.-345-5814C>T) | |
1 | g.63623612C>A | CA340643592 | PGM1 | c.247-5813C>A (n.247-5813C>A) c.152C>A (p.Pro51Gln) c.-345-5813C>A (n.-345-5813C>A) | |
1 | g.63623612C>G | CA340643594 | PGM1 | c.247-5813C>G (n.247-5813C>G) c.152C>G (p.Pro51Arg) c.-345-5813C>G (n.-345-5813C>G) | |
1 | g.63623612C>T | CA340643598 | PGM1 | c.247-5813C>T (n.247-5813C>T) c.152C>T (p.Pro51Leu) c.-345-5813C>T (n.-345-5813C>T) | |
1 | g.63623613A= | CA1171568746 | PGM1 | c.247-5812A= (n.247-5812A=) c.153A= (p.Pro51=) c.-345-5812A= (n.-345-5812A=) | |
1 | g.63623613A>C | CA418205791 | PGM1 | c.247-5812A>C (n.247-5812A>C) c.153A>C (p.Pro51=) c.-345-5812A>C (n.-345-5812A>C) | |
1 | g.63623613A>G | CA418205794 | PGM1 | c.247-5812A>G (n.247-5812A>G) c.153A>G (p.Pro51=) c.-345-5812A>G (n.-345-5812A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63623613A>T | CA418205792 | PGM1 | c.247-5812A>T (n.247-5812A>T) c.153A>T (p.Pro51=) c.-345-5812A>T (n.-345-5812A>T) | |
1 | g.63623614T>A | CA889451 | PGM1 | c.247-5811T>A (n.247-5811T>A) c.154T>A (p.Cys52Ser) c.-345-5811T>A (n.-345-5811T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63623614T>C | CA340643601 | PGM1 | c.247-5811T>C (n.247-5811T>C) c.154T>C (p.Cys52Arg) c.-345-5811T>C (n.-345-5811T>C) | |
1 | g.63623614T>G | CA23828066 | PGM1 | c.247-5811T>G (n.247-5811T>G) c.154T>G (p.Cys52Gly) c.-345-5811T>G (n.-345-5811T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63623614T= | CA1171568747 | PGM1 | c.247-5811T= (n.247-5811T=) c.154T= (p.Cys52=) c.-345-5811T= (n.-345-5811T=) | |
1 | g.63623615G>A | CA889452 | PGM1 | c.247-5810G>A (n.247-5810G>A) c.155G>A (p.Cys52Tyr) c.-345-5810G>A (n.-345-5810G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63623615G>C | CA340643608 | PGM1 | c.247-5810G>C (n.247-5810G>C) c.155G>C (p.Cys52Ser) c.-345-5810G>C (n.-345-5810G>C) | |
1 | g.63623615G= | CA1141761438 | PGM1 | c.247-5810G= (n.247-5810G=) c.155G= (p.Cys52=) c.-345-5810G= (n.-345-5810G=) | |
1 | g.63623615G>T | CA340643611 | PGM1 | c.247-5810G>T (n.247-5810G>T) c.155G>T (p.Cys52Phe) c.-345-5810G>T (n.-345-5810G>T) | |
1 | g.63623616C>A | CA340643613 | PGM1 | c.247-5809C>A (n.247-5809C>A) c.156C>A (p.Cys52Ter) c.-345-5809C>A (n.-345-5809C>A) | |
1 | g.63623616C>G | CA340643616 | PGM1 | c.247-5809C>G (n.247-5809C>G) c.156C>G (p.Cys52Trp) c.-345-5809C>G (n.-345-5809C>G) | |
1 | g.63623616C>T | CA418205806 | PGM1 | c.247-5809C>T (n.247-5809C>T) c.156C>T (p.Cys52=) c.-345-5809C>T (n.-345-5809C>T) | |
1 | g.63623617T>A | CA340643619 | PGM1 | c.247-5808T>A (n.247-5808T>A) c.157T>A (p.Tyr53Asn) c.-345-5808T>A (n.-345-5808T>A) | |
1 | g.63623617T>C | CA340643626 | PGM1 | c.247-5808T>C (n.247-5808T>C) c.157T>C (p.Tyr53His) c.-345-5808T>C (n.-345-5808T>C) | |
1 | g.63623617T>G | CA340643628 | PGM1 | c.247-5808T>G (n.247-5808T>G) c.157T>G (p.Tyr53Asp) c.-345-5808T>G (n.-345-5808T>G) | gnomAD v4 |
1 | g.63623618A= | CA1171568748 | PGM1 | c.247-5807A= (n.247-5807A=) c.158A= (p.Tyr53=) c.-345-5807A= (n.-345-5807A=) | |
1 | g.63623618A>C | CA340643630 | PGM1 | c.247-5807A>C (n.247-5807A>C) c.158A>C (p.Tyr53Ser) c.-345-5807A>C (n.-345-5807A>C) | gnomAD v4 |
1 | g.63623618A>G | CA340643633 | PGM1 | c.247-5807A>G (n.247-5807A>G) c.158A>G (p.Tyr53Cys) c.-345-5807A>G (n.-345-5807A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63623618A>T | CA340643634 | PGM1 | c.247-5807A>T (n.247-5807A>T) c.158A>T (p.Tyr53Phe) c.-345-5807A>T (n.-345-5807A>T) | |
1 | g.63623619T>A | CA340643638 | PGM1 | c.247-5806T>A (n.247-5806T>A) c.159T>A (p.Tyr53Ter) c.-345-5806T>A (n.-345-5806T>A) | |
1 | g.63623619T>C | CA418205816 | PGM1 | c.247-5806T>C (n.247-5806T>C) c.159T>C (p.Tyr53=) c.-345-5806T>C (n.-345-5806T>C) | |
1 | g.63623619T>G | CA340643641 | PGM1 | c.247-5806T>G (n.247-5806T>G) c.159T>G (p.Tyr53Ter) c.-345-5806T>G (n.-345-5806T>G) | |
1 | g.63623620C>A | CA340643649 | PGM1 | c.247-5805C>A (n.247-5805C>A) c.160C>A (p.Leu54Met) c.-345-5805C>A (n.-345-5805C>A) | |
1 | g.63623620C>G | CA340643651 | PGM1 | c.247-5805C>G (n.247-5805C>G) c.160C>G (p.Leu54Val) c.-345-5805C>G (n.-345-5805C>G) | |
1 | g.63623620C>T | CA418205821 | PGM1 | c.247-5805C>T (n.247-5805C>T) c.160C>T (p.Leu54=) c.-345-5805C>T (n.-345-5805C>T) | |
1 | g.63623621T>A | CA340643655 | PGM1 | c.247-5804T>A (n.247-5804T>A) c.161T>A (p.Leu54Gln) c.-345-5804T>A (n.-345-5804T>A) | |
1 | g.63623621T>C | CA340643663 | PGM1 | c.247-5804T>C (n.247-5804T>C) c.161T>C (p.Leu54Pro) c.-345-5804T>C (n.-345-5804T>C) | dbSNP |
1 | g.63623621T>G | CA340643657 | PGM1 | c.247-5804T>G (n.247-5804T>G) c.161T>G (p.Leu54Arg) c.-345-5804T>G (n.-345-5804T>G) | |
1 | g.63623621T= | CA1171568749 | PGM1 | c.247-5804T= (n.247-5804T=) c.161T= (p.Leu54=) c.-345-5804T= (n.-345-5804T=) | |
1 | g.63623622G>A | CA418205828 | PGM1 | c.247-5803G>A (n.247-5803G>A) c.162G>A (p.Leu54=) c.-345-5803G>A (n.-345-5803G>A) | dbSNP gnomAD v4 |
1 | g.63623622G>C | CA418205826 | PGM1 | c.247-5803G>C (n.247-5803G>C) c.162G>C (p.Leu54=) c.-345-5803G>C (n.-345-5803G>C) | |
1 | g.63623622G= | CA1171568750 | PGM1 | c.247-5803G= (n.247-5803G=) c.162G= (p.Leu54=) c.-345-5803G= (n.-345-5803G=) | |
1 | g.63623622G>T | CA418205827 | PGM1 | c.247-5803G>T (n.247-5803G>T) c.162G>T (p.Leu54=) c.-345-5803G>T (n.-345-5803G>T) | |
1 | g.63623623G>A | CA340643666 | PGM1 | c.247-5802G>A (n.247-5802G>A) c.163G>A (p.Glu55Lys) c.-345-5802G>A (n.-345-5802G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63623623G>C | CA340643668 | PGM1 | c.247-5802G>C (n.247-5802G>C) c.163G>C (p.Glu55Gln) c.-345-5802G>C (n.-345-5802G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63623623G= | CA1171568751 | PGM1 | c.247-5802G= (n.247-5802G=) c.163G= (p.Glu55=) c.-345-5802G= (n.-345-5802G=) | |
1 | g.63623623G>T | CA340643671 | PGM1 | c.247-5802G>T (n.247-5802G>T) c.163G>T (p.Glu55Ter) c.-345-5802G>T (n.-345-5802G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63623624A= | CA1171568752 | PGM1 | c.247-5801A= (n.247-5801A=) c.164A= (p.Glu55=) c.-345-5801A= (n.-345-5801A=) | |
1 | g.63623624A>C | CA340643673 | PGM1 | c.247-5801A>C (n.247-5801A>C) c.164A>C (p.Glu55Ala) c.-345-5801A>C (n.-345-5801A>C) | |
1 | g.63623624A>G | CA889453 | PGM1 | c.247-5801A>G (n.247-5801A>G) c.164A>G (p.Glu55Gly) c.-345-5801A>G (n.-345-5801A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63623624A>T | CA340643681 | PGM1 | c.247-5801A>T (n.247-5801A>T) c.164A>T (p.Glu55Val) c.-345-5801A>T (n.-345-5801A>T) | |
1 | g.63623625G>A | CA418205837 | PGM1 | c.247-5800G>A (n.247-5800G>A) c.165G>A (p.Glu55=) c.-345-5800G>A (n.-345-5800G>A) | gnomAD v4 |
1 | g.63623625G>C | CA340643683 | PGM1 | c.247-5800G>C (n.247-5800G>C) c.165G>C (p.Glu55Asp) c.-345-5800G>C (n.-345-5800G>C) | |
1 | g.63623625G>T | CA340643685 | PGM1 | c.247-5800G>T (n.247-5800G>T) c.165G>T (p.Glu55Asp) c.-345-5800G>T (n.-345-5800G>T) | gnomAD v4 |
1 | g.63623626A>C | CA340643687 | PGM1 | c.247-5799A>C (n.247-5799A>C) c.166A>C (p.Asn56His) c.-345-5799A>C (n.-345-5799A>C) | |
1 | g.63623626A>G | CA340643691 | PGM1 | c.247-5799A>G (n.247-5799A>G) c.166A>G (p.Asn56Asp) c.-345-5799A>G (n.-345-5799A>G) | |
1 | g.63623626A>T | CA340643689 | PGM1 | c.247-5799A>T (n.247-5799A>T) c.166A>T (p.Asn56Tyr) c.-345-5799A>T (n.-345-5799A>T) | |
1 | g.63623627A>C | CA340643694 | PGM1 | c.247-5798A>C (n.247-5798A>C) c.167A>C (p.Asn56Thr) c.-345-5798A>C (n.-345-5798A>C) | |
1 | g.63623627A>G | CA340643695 | PGM1 | c.247-5798A>G (n.247-5798A>G) c.167A>G (p.Asn56Ser) c.-345-5798A>G (n.-345-5798A>G) | |
1 | g.63623627A>T | CA340643697 | PGM1 | c.247-5798A>T (n.247-5798A>T) c.167A>T (p.Asn56Ile) c.-345-5798A>T (n.-345-5798A>T) | |
1 | g.63623628T>A | CA340643698 | PGM1 | c.247-5797T>A (n.247-5797T>A) c.168T>A (p.Asn56Lys) c.-345-5797T>A (n.-345-5797T>A) | |
1 | g.63623628T>C | CA418205848 | PGM1 | c.247-5797T>C (n.247-5797T>C) c.168T>C (p.Asn56=) c.-345-5797T>C (n.-345-5797T>C) | |
1 | g.63623628T>G | CA340643699 | PGM1 | c.247-5797T>G (n.247-5797T>G) c.168T>G (p.Asn56Lys) c.-345-5797T>G (n.-345-5797T>G) | |
1 | g.63623629T>A | CA340643700 | PGM1 | c.247-5796T>A (n.247-5796T>A) c.169T>A (p.Phe57Ile) c.-345-5796T>A (n.-345-5796T>A) | |
1 | g.63623629T>C | CA340643702 | PGM1 | c.247-5796T>C (n.247-5796T>C) c.169T>C (p.Phe57Leu) c.-345-5796T>C (n.-345-5796T>C) | |
1 | g.63623629T>G | CA340643701 | PGM1 | c.247-5796T>G (n.247-5796T>G) c.169T>G (p.Phe57Val) c.-345-5796T>G (n.-345-5796T>G) | |
1 | g.63623630T>A | CA340643704 | PGM1 | c.247-5795T>A (n.247-5795T>A) c.170T>A (p.Phe57Tyr) c.-345-5795T>A (n.-345-5795T>A) | |
1 | g.63623630T>C | CA340643705 | PGM1 | c.247-5795T>C (n.247-5795T>C) c.170T>C (p.Phe57Ser) c.-345-5795T>C (n.-345-5795T>C) | |
1 | g.63623630T>G | CA340643706 | PGM1 | c.247-5795T>G (n.247-5795T>G) c.170T>G (p.Phe57Cys) c.-345-5795T>G (n.-345-5795T>G) | |
1 | g.63623631C>A | CA340643707 | PGM1 | c.247-5794C>A (n.247-5794C>A) c.171C>A (p.Phe57Leu) c.-345-5794C>A (n.-345-5794C>A) | |
1 | g.63623631C>G | CA340643710 | PGM1 | c.247-5794C>G (n.247-5794C>G) c.171C>G (p.Phe57Leu) c.-345-5794C>G (n.-345-5794C>G) | |
1 | g.63623631C>T | CA418205864 | PGM1 | c.247-5794C>T (n.247-5794C>T) c.171C>T (p.Phe57=) c.-345-5794C>T (n.-345-5794C>T) | gnomAD v4 |
1 | g.63623632A>C | CA340643711 | PGM1 | c.247-5793A>C (n.247-5793A>C) c.172A>C (p.Ile58Leu) c.-345-5793A>C (n.-345-5793A>C) | gnomAD v4 |
1 | g.63623632A>G | CA340643712 | PGM1 | c.247-5793A>G (n.247-5793A>G) c.172A>G (p.Ile58Val) c.-345-5793A>G (n.-345-5793A>G) | |
1 | g.63623632A>T | CA340643713 | PGM1 | c.247-5793A>T (n.247-5793A>T) c.172A>T (p.Ile58Phe) c.-345-5793A>T (n.-345-5793A>T) | |
1 | g.63623633T>A | CA340643714 | PGM1 | c.247-5792T>A (n.247-5792T>A) c.173T>A (p.Ile58Asn) c.-345-5792T>A (n.-345-5792T>A) | |
1 | g.63623633T>C | CA340643715 | PGM1 | c.247-5792T>C (n.247-5792T>C) c.173T>C (p.Ile58Thr) c.-345-5792T>C (n.-345-5792T>C) | |
1 | g.63623633T>G | CA340643716 | PGM1 | c.247-5792T>G (n.247-5792T>G) c.173T>G (p.Ile58Ser) c.-345-5792T>G (n.-345-5792T>G) | |
1 | g.63623634C>A | CA418205873 | PGM1 | c.247-5791C>A (n.247-5791C>A) c.174C>A (p.Ile58=) c.-345-5791C>A (n.-345-5791C>A) | |
1 | g.63623634C= | CA1171568753 | PGM1 | c.247-5791C= (n.247-5791C=) c.174C= (p.Ile58=) c.-345-5791C= (n.-345-5791C=) | |
1 | g.63623634C>G | CA340643718 | PGM1 | c.247-5791C>G (n.247-5791C>G) c.174C>G (p.Ile58Met) c.-345-5791C>G (n.-345-5791C>G) | gnomAD v4 |
1 | g.63623634C>T | CA418205877 | PGM1 | c.247-5791C>T (n.247-5791C>T) c.174C>T (p.Ile58=) c.-345-5791C>T (n.-345-5791C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63623635C>A | CA340643721 | PGM1 | c.247-5790C>A (n.247-5790C>A) c.175C>A (p.Gln59Lys) c.-345-5790C>A (n.-345-5790C>A) | |
1 | g.63623635C>G | CA340643725 | PGM1 | c.247-5790C>G (n.247-5790C>G) c.175C>G (p.Gln59Glu) c.-345-5790C>G (n.-345-5790C>G) | |
1 | g.63623635C>T | CA340643723 | PGM1 | c.247-5790C>T (n.247-5790C>T) c.175C>T (p.Gln59Ter) c.-345-5790C>T (n.-345-5790C>T) | |
1 | g.63623636A= | CA1171568754 | PGM1 | c.247-5789A= (n.247-5789A=) c.176A= (p.Gln59=) c.-345-5789A= (n.-345-5789A=) | |
1 | g.63623636A>C | CA340643728 | PGM1 | c.247-5789A>C (n.247-5789A>C) c.176A>C (p.Gln59Pro) c.-345-5789A>C (n.-345-5789A>C) | |
1 | g.63623636A>G | CA340643731 | PGM1 | c.247-5789A>G (n.247-5789A>G) c.176A>G (p.Gln59Arg) c.-345-5789A>G (n.-345-5789A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63623636A>T | CA340643733 | PGM1 | c.247-5789A>T (n.247-5789A>T) c.176A>T (p.Gln59Leu) c.-345-5789A>T (n.-345-5789A>T) | |
1 | g.63623637G>A | CA418205888 | PGM1 | c.247-5788G>A (n.247-5788G>A) c.177G>A (p.Gln59=) c.-345-5788G>A (n.-345-5788G>A) | |
1 | g.63623637G>C | CA340643734 | PGM1 | c.247-5788G>C (n.247-5788G>C) c.177G>C (p.Gln59His) c.-345-5788G>C (n.-345-5788G>C) | |
1 | g.63623637G>T | CA340643736 | PGM1 | c.247-5788G>T (n.247-5788G>T) c.177G>T (p.Gln59His) c.-345-5788G>T (n.-345-5788G>T) | |
1 | g.63623638A>C | CA340643739 | PGM1 | c.247-5787A>C (n.247-5787A>C) c.178A>C (p.Ser60Arg) c.-345-5787A>C (n.-345-5787A>C) | |
1 | g.63623638A>G | CA340643741 | PGM1 | c.247-5787A>G (n.247-5787A>G) c.178A>G (p.Ser60Gly) c.-345-5787A>G (n.-345-5787A>G) | |
1 | g.63623638A>T | CA340643743 | PGM1 | c.247-5787A>T (n.247-5787A>T) c.178A>T (p.Ser60Cys) c.-345-5787A>T (n.-345-5787A>T) | |
1 | g.63623639G>A | CA889454 | PGM1 | c.247-5786G>A (n.247-5786G>A) c.179G>A (p.Ser60Asn) c.-345-5786G>A (n.-345-5786G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63623639G>C | CA340643745 | PGM1 | c.247-5786G>C (n.247-5786G>C) c.179G>C (p.Ser60Thr) c.-345-5786G>C (n.-345-5786G>C) | |
1 | g.63623639G= | CA1171568755 | PGM1 | c.247-5786G= (n.247-5786G=) c.179G= (p.Ser60=) c.-345-5786G= (n.-345-5786G=) | |
1 | g.63623639G>T | CA340643747 | PGM1 | c.247-5786G>T (n.247-5786G>T) c.179G>T (p.Ser60Ile) c.-345-5786G>T (n.-345-5786G>T) | gnomAD v4 |
1 | g.63623640T>A | CA340643748 | PGM1 | c.247-5785T>A (n.247-5785T>A) c.180T>A (p.Ser60Arg) c.-345-5785T>A (n.-345-5785T>A) | |
1 | g.63623640T>C | CA418205910 | PGM1 | c.247-5785T>C (n.247-5785T>C) c.180T>C (p.Ser60=) c.-345-5785T>C (n.-345-5785T>C) | dbSNP |
1 | g.63623640T>G | CA340643750 | PGM1 | c.247-5785T>G (n.247-5785T>G) c.180T>G (p.Ser60Arg) c.-345-5785T>G (n.-345-5785T>G) | |
1 | g.63623640T= | CA1171568756 | PGM1 | c.247-5785T= (n.247-5785T=) c.180T= (p.Ser60=) c.-345-5785T= (n.-345-5785T=) | |
1 | g.63623641A>C | CA340643764 | PGM1 | c.247-5784A>C (n.247-5784A>C) c.181A>C (p.Ile61Leu) c.-345-5784A>C (n.-345-5784A>C) | |
1 | g.63623641A>G | CA340643752 | PGM1 | c.247-5784A>G (n.247-5784A>G) c.181A>G (p.Ile61Val) c.-345-5784A>G (n.-345-5784A>G) | gnomAD v4 |
1 | g.63623641A>T | CA340643760 | PGM1 | c.247-5784A>T (n.247-5784A>T) c.181A>T (p.Ile61Leu) c.-345-5784A>T (n.-345-5784A>T) | |
1 | g.63623642T>A | CA340643767 | PGM1 | c.247-5783T>A (n.247-5783T>A) c.182T>A (p.Ile61Lys) c.-345-5783T>A (n.-345-5783T>A) | |
1 | g.63623642T>C | CA340643770 | PGM1 | c.247-5783T>C (n.247-5783T>C) c.182T>C (p.Ile61Thr) c.-345-5783T>C (n.-345-5783T>C) | |
1 | g.63623642T>G | CA340643774 | PGM1 | c.247-5783T>G (n.247-5783T>G) c.182T>G (p.Ile61Arg) c.-345-5783T>G (n.-345-5783T>G) | |
1 | g.63623643A= | CA1171568757 | PGM1 | c.247-5782A= (n.247-5782A=) c.183A= (p.Ile61=) c.-345-5782A= (n.-345-5782A=) | |
1 | g.63623643A>C | CA418205919 | PGM1 | c.247-5782A>C (n.247-5782A>C) c.183A>C (p.Ile61=) c.-345-5782A>C (n.-345-5782A>C) | |
1 | g.63623643A>G | CA340643775 | PGM1 | c.247-5782A>G (n.247-5782A>G) c.183A>G (p.Ile61Met) c.-345-5782A>G (n.-345-5782A>G) | dbSNP gnomAD v4 |
1 | g.63623643A>T | CA418205918 | PGM1 | c.247-5782A>T (n.247-5782A>T) c.183A>T (p.Ile61=) c.-345-5782A>T (n.-345-5782A>T) | |
1 | g.63623644T>A | CA340643779 | PGM1 | c.247-5781T>A (n.247-5781T>A) c.184T>A (p.Phe62Ile) c.-345-5781T>A (n.-345-5781T>A) | |
1 | g.63623644T>C | CA340643780 | PGM1 | c.247-5781T>C (n.247-5781T>C) c.184T>C (p.Phe62Leu) c.-345-5781T>C (n.-345-5781T>C) | |
1 | g.63623644T>G | CA340643782 | PGM1 | c.247-5781T>G (n.247-5781T>G) c.184T>G (p.Phe62Val) c.-345-5781T>G (n.-345-5781T>G) | |
1 | g.63623645T>A | CA340643786 | PGM1 | c.247-5780T>A (n.247-5780T>A) c.185T>A (p.Phe62Tyr) c.-345-5780T>A (n.-345-5780T>A) | |
1 | g.63623645T>C | CA340643789 | PGM1 | c.247-5780T>C (n.247-5780T>C) c.185T>C (p.Phe62Ser) c.-345-5780T>C (n.-345-5780T>C) | |
1 | g.63623645T>G | CA340643801 | PGM1 | c.247-5780T>G (n.247-5780T>G) c.185T>G (p.Phe62Cys) c.-345-5780T>G (n.-345-5780T>G) | |
1 | g.63623646C>A | CA340643805 | PGM1 | c.247-5779C>A (n.247-5779C>A) c.186C>A (p.Phe62Leu) c.-345-5779C>A (n.-345-5779C>A) | gnomAD v4 |
1 | g.63623646C>G | CA340643811 | PGM1 | c.247-5779C>G (n.247-5779C>G) c.186C>G (p.Phe62Leu) c.-345-5779C>G (n.-345-5779C>G) | |
1 | g.63623646C>T | CA418205928 | PGM1 | c.247-5779C>T (n.247-5779C>T) c.186C>T (p.Phe62=) c.-345-5779C>T (n.-345-5779C>T) | |
1 | g.63623647T>A | CA340643819 | PGM1 | c.247-5778T>A (n.247-5778T>A) c.187T>A (p.Phe63Ile) c.-345-5778T>A (n.-345-5778T>A) | |
1 | g.63623647T>C | CA889455 | PGM1 | c.247-5778T>C (n.247-5778T>C) c.187T>C (p.Phe63Leu) c.-345-5778T>C (n.-345-5778T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63623647T>G | CA340643820 | PGM1 | c.247-5778T>G (n.247-5778T>G) c.187T>G (p.Phe63Val) c.-345-5778T>G (n.-345-5778T>G) | |
1 | g.63623647T= | CA1171568758 | PGM1 | c.247-5778T= (n.247-5778T=) c.187T= (p.Phe63=) c.-345-5778T= (n.-345-5778T=) | |
1 | g.63623648T>A | CA340643823 | PGM1 | c.247-5777T>A (n.247-5777T>A) c.188T>A (p.Phe63Tyr) c.-345-5777T>A (n.-345-5777T>A) | |
1 | g.63623648T>C | CA889456 | PGM1 | c.247-5777T>C (n.247-5777T>C) c.188T>C (p.Phe63Ser) c.-345-5777T>C (n.-345-5777T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63623648T>G | CA340643824 | PGM1 | c.247-5777T>G (n.247-5777T>G) c.188T>G (p.Phe63Cys) c.-345-5777T>G (n.-345-5777T>G) | dbSNP gnomAD v4 |
1 | g.63623648T= | CA1171568759 | PGM1 | c.247-5777T= (n.247-5777T=) c.188T= (p.Phe63=) c.-345-5777T= (n.-345-5777T=) | |
1 | g.63623649T>A | CA340643826 | PGM1 | c.247-5776T>A (n.247-5776T>A) c.189T>A (p.Phe63Leu) c.-345-5776T>A (n.-345-5776T>A) | COSMIC |
1 | g.63623649T>C | CA418205936 | PGM1 | c.247-5776T>C (n.247-5776T>C) c.189T>C (p.Phe63=) c.-345-5776T>C (n.-345-5776T>C) | |
1 | g.63623649T>G | CA340643829 | PGM1 | c.247-5776T>G (n.247-5776T>G) c.189T>G (p.Phe63Leu) c.-345-5776T>G (n.-345-5776T>G) | |
1 | g.63623650T>A | CA340643831 | PGM1 | c.247-5775T>A (n.247-5775T>A) c.190T>A (p.Ser64Thr) c.-345-5775T>A (n.-345-5775T>A) | |
1 | g.63623650T>C | CA340643835 | PGM1 | c.247-5775T>C (n.247-5775T>C) c.190T>C (p.Ser64Pro) c.-345-5775T>C (n.-345-5775T>C) | |
1 | g.63623650T>G | CA340643838 | PGM1 | c.247-5775T>G (n.247-5775T>G) c.190T>G (p.Ser64Ala) c.-345-5775T>G (n.-345-5775T>G) | |
1 | g.63623651C>A | CA340643840 | PGM1 | c.247-5774C>A (n.247-5774C>A) c.191C>A (p.Ser64Tyr) c.-345-5774C>A (n.-345-5774C>A) | |
1 | g.63623651C>G | CA340643841 | PGM1 | c.247-5774C>G (n.247-5774C>G) c.191C>G (p.Ser64Cys) c.-345-5774C>G (n.-345-5774C>G) | |
1 | g.63623651C>T | CA340643844 | PGM1 | c.247-5774C>T (n.247-5774C>T) c.191C>T (p.Ser64Phe) c.-345-5774C>T (n.-345-5774C>T) | |
1 | g.63623652C>A | CA418205945 | PGM1 | c.247-5773C>A (n.247-5773C>A) c.192C>A (p.Ser64=) c.-345-5773C>A (n.-345-5773C>A) | |
1 | g.63623652C>G | CA418205947 | PGM1 | c.247-5773C>G (n.247-5773C>G) c.192C>G (p.Ser64=) c.-345-5773C>G (n.-345-5773C>G) | |
1 | g.63623652C>T | CA418205948 | PGM1 | c.247-5773C>T (n.247-5773C>T) c.192C>T (p.Ser64=) c.-345-5773C>T (n.-345-5773C>T) | gnomAD v4 |
1 | g.63623653A>C | CA340643852 | PGM1 | c.247-5772A>C (n.247-5772A>C) c.193A>C (p.Ile65Leu) c.-345-5772A>C (n.-345-5772A>C) | |
1 | g.63623653A>G | CA340643855 | PGM1 | c.247-5772A>G (n.247-5772A>G) c.193A>G (p.Ile65Val) c.-345-5772A>G (n.-345-5772A>G) | gnomAD v4 |
1 | g.63623653A>T | CA340643857 | PGM1 | c.247-5772A>T (n.247-5772A>T) c.193A>T (p.Ile65Leu) c.-345-5772A>T (n.-345-5772A>T) | |
1 | g.63623654T>A | CA340643863 | PGM1 | c.247-5771T>A (n.247-5771T>A) c.194T>A (p.Ile65Lys) c.-345-5771T>A (n.-345-5771T>A) | |
1 | g.63623654T>C | CA340643861 | PGM1 | c.247-5771T>C (n.247-5771T>C) c.194T>C (p.Ile65Thr) c.-345-5771T>C (n.-345-5771T>C) | gnomAD v4 |
1 | g.63623654T>G | CA340643859 | PGM1 | c.247-5771T>G (n.247-5771T>G) c.194T>G (p.Ile65Arg) c.-345-5771T>G (n.-345-5771T>G) | |
1 | g.63623655A>C | CA418205958 | PGM1 | c.247-5770A>C (n.247-5770A>C) c.195A>C (p.Ile65=) c.-345-5770A>C (n.-345-5770A>C) | |
1 | g.63623655A>G | CA340643866 | PGM1 | c.247-5770A>G (n.247-5770A>G) c.195A>G (p.Ile65Met) c.-345-5770A>G (n.-345-5770A>G) | |
1 | g.63623655A>T | CA418205960 | PGM1 | c.247-5770A>T (n.247-5770A>T) c.195A>T (p.Ile65=) c.-345-5770A>T (n.-345-5770A>T) | |
1 | g.63623656G>A | CA340643868 | PGM1 | c.247-5769G>A (n.247-5769G>A) c.196G>A (p.Asp66Asn) c.-345-5769G>A (n.-345-5769G>A) | dbSNP gnomAD v4 |
1 | g.63623656G>C | CA340643870 | PGM1 | c.247-5769G>C (n.247-5769G>C) c.196G>C (p.Asp66His) c.-345-5769G>C (n.-345-5769G>C) | |
1 | g.63623656G= | CA1171568760 | PGM1 | c.247-5769G= (n.247-5769G=) c.196G= (p.Asp66=) c.-345-5769G= (n.-345-5769G=) | |
1 | g.63623656G>T | CA340643872 | PGM1 | c.247-5769G>T (n.247-5769G>T) c.196G>T (p.Asp66Tyr) c.-345-5769G>T (n.-345-5769G>T) | |
1 | g.63623657A>C | CA340643875 | PGM1 | c.247-5768A>C (n.247-5768A>C) c.197A>C (p.Asp66Ala) c.-345-5768A>C (n.-345-5768A>C) | |
1 | g.63623657A>G | CA340643877 | PGM1 | c.247-5768A>G (n.247-5768A>G) c.197A>G (p.Asp66Gly) c.-345-5768A>G (n.-345-5768A>G) | |
1 | g.63623657A>T | CA340643878 | PGM1 | c.247-5768A>T (n.247-5768A>T) c.197A>T (p.Asp66Val) c.-345-5768A>T (n.-345-5768A>T) | |
1 | g.63623658C>A | CA340643881 | PGM1 | c.247-5767C>A (n.247-5767C>A) c.198C>A (p.Asp66Glu) c.-345-5767C>A (n.-345-5767C>A) | |
1 | g.63623658C>G | CA340643883 | PGM1 | c.247-5767C>G (n.247-5767C>G) c.198C>G (p.Asp66Glu) c.-345-5767C>G (n.-345-5767C>G) | |
1 | g.63623658C>T | CA418205970 | PGM1 | c.247-5767C>T (n.247-5767C>T) c.198C>T (p.Asp66=) c.-345-5767C>T (n.-345-5767C>T) | gnomAD v4 |
1 | g.63623659C>A | CA340643886 | PGM1 | c.247-5766C>A (n.247-5766C>A) c.199C>A (p.Leu67Ile) c.-345-5766C>A (n.-345-5766C>A) | |
1 | g.63623659C>G | CA340643888 | PGM1 | c.247-5766C>G (n.247-5766C>G) c.199C>G (p.Leu67Val) c.-345-5766C>G (n.-345-5766C>G) | |
1 | g.63623659C>T | CA418205973 | PGM1 | c.247-5766C>T (n.247-5766C>T) c.199C>T (p.Leu67=) c.-345-5766C>T (n.-345-5766C>T) | |
1 | g.63623660T>A | CA340643895 | PGM1 | c.247-5765T>A (n.247-5765T>A) c.200T>A (p.Leu67Gln) c.-345-5765T>A (n.-345-5765T>A) | |
1 | g.63623660T>C | CA340643893 | PGM1 | c.247-5765T>C (n.247-5765T>C) c.200T>C (p.Leu67Pro) c.-345-5765T>C (n.-345-5765T>C) | |
1 | g.63623660T>G | CA340643891 | PGM1 | c.247-5765T>G (n.247-5765T>G) c.200T>G (p.Leu67Arg) c.-345-5765T>G (n.-345-5765T>G) | |
1 | g.63623661A= | CA1143685141 | PGM1 | c.247-5764A= (n.247-5764A=) c.201A= (p.Leu67=) c.-345-5764A= (n.-345-5764A=) | |
1 | g.63623661A>C | CA889457 | PGM1 | c.247-5764A>C (n.247-5764A>C) c.201A>C (p.Leu67=) c.-345-5764A>C (n.-345-5764A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63623661A>G | CA418205980 | PGM1 | c.247-5764A>G (n.247-5764A>G) c.201A>G (p.Leu67=) c.-345-5764A>G (n.-345-5764A>G) | dbSNP gnomAD v4 |
1 | g.63623661A>T | CA418205982 | PGM1 | c.247-5764A>T (n.247-5764A>T) c.201A>T (p.Leu67=) c.-345-5764A>T (n.-345-5764A>T) | |
1 | g.63623662A>C | CA340643899 | PGM1 | c.247-5763A>C (n.247-5763A>C) c.202A>C (p.Lys68Gln) c.-345-5763A>C (n.-345-5763A>C) | |
1 | g.63623662A>G | CA340643901 | PGM1 | c.247-5763A>G (n.247-5763A>G) c.202A>G (p.Lys68Glu) c.-345-5763A>G (n.-345-5763A>G) | |
1 | g.63623662A>T | CA340643903 | PGM1 | c.247-5763A>T (n.247-5763A>T) c.202A>T (p.Lys68Ter) c.-345-5763A>T (n.-345-5763A>T) | |
1 | g.63623663A>C | CA340643905 | PGM1 | c.247-5762A>C (n.247-5762A>C) c.203A>C (p.Lys68Thr) c.-345-5762A>C (n.-345-5762A>C) | |
1 | g.63623663A>G | CA340643908 | PGM1 | c.247-5762A>G (n.247-5762A>G) c.203A>G (p.Lys68Arg) c.-345-5762A>G (n.-345-5762A>G) | |
1 | g.63623663A>T | CA340643911 | PGM1 | c.247-5762A>T (n.247-5762A>T) c.203A>T (p.Lys68Ile) c.-345-5762A>T (n.-345-5762A>T) | |
1 | g.63623664A>C | CA340643914 | PGM1 | c.247-5761A>C (n.247-5761A>C) c.204A>C (p.Lys68Asn) c.-345-5761A>C (n.-345-5761A>C) | |
1 | g.63623664A>G | CA418205994 | PGM1 | c.247-5761A>G (n.247-5761A>G) c.204A>G (p.Lys68=) c.-345-5761A>G (n.-345-5761A>G) | |
1 | g.63623664A>T | CA340643916 | PGM1 | c.247-5761A>T (n.247-5761A>T) c.204A>T (p.Lys68Asn) c.-345-5761A>T (n.-345-5761A>T) | |
1 | g.63623664_63623665insAACCAAACACACCCAACACA | CA2743892595 | PGM1 | c.247-5761_247-5760insAACCAAACACACCCAACACA (n.247-5761_247-5760insAACCAAACACACCCAACACA) c.204_205insAACCAAACACACCCAACACA (p.Asp69AsnfsTer28) c.-345-5761_-345-5760insAACCAAACACACCCAACACA (n.-345-5761_-345-5760insAACCAAACACACCCAACACA) | |
1 | g.63623665del | CA2646031090 | PGM1 | c.247-5760del (n.247-5760del) c.205del (p.Asp69IlefsTer21) c.-345-5760del (n.-345-5760del) | gnomAD v4 |
1 | g.63623665G>A | CA340643919 | PGM1 | c.247-5760G>A (n.247-5760G>A) c.205G>A (p.Asp69Asn) c.-345-5760G>A (n.-345-5760G>A) | |
1 | g.63623665G>C | CA340643921 | PGM1 | c.247-5760G>C (n.247-5760G>C) c.205G>C (p.Asp69His) c.-345-5760G>C (n.-345-5760G>C) | |
1 | g.63623665G>T | CA340643922 | PGM1 | c.247-5760G>T (n.247-5760G>T) c.205G>T (p.Asp69Tyr) c.-345-5760G>T (n.-345-5760G>T) | |
1 | g.63623666A>C | CA340643934 | PGM1 | c.247-5759A>C (n.247-5759A>C) c.206A>C (p.Asp69Ala) c.-345-5759A>C (n.-345-5759A>C) | |
1 | g.63623666A>G | CA340643928 | PGM1 | c.247-5759A>G (n.247-5759A>G) c.206A>G (p.Asp69Gly) c.-345-5759A>G (n.-345-5759A>G) | |
1 | g.63623666A>T | CA340643925 | PGM1 | c.247-5759A>T (n.247-5759A>T) c.206A>T (p.Asp69Val) c.-345-5759A>T (n.-345-5759A>T) | |
1 | g.63623666_63623667delinsAT | CA1171568761 | PGM1 | c.247-5759_247-5758delinsAT (n.247-5759_247-5758delinsAT) c.206_207delinsAT (p.Asp69=) c.-345-5759_-345-5758delinsAT (n.-345-5759_-345-5758delinsAT) | |
1 | g.63623667del | CA889458 | PGM1 | c.247-5758del (n.247-5758del) c.207del (p.Arg70AlafsTer20) c.-345-5758del (n.-345-5758del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63623667T>A | CA340643937 | PGM1 | c.247-5758T>A (n.247-5758T>A) c.207T>A (p.Asp69Glu) c.-345-5758T>A (n.-345-5758T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63623667T>C | CA418206007 | PGM1 | c.247-5758T>C (n.247-5758T>C) c.207T>C (p.Asp69=) c.-345-5758T>C (n.-345-5758T>C) | |
1 | g.63623667T>G | CA340643938 | PGM1 | c.247-5758T>G (n.247-5758T>G) c.207T>G (p.Asp69Glu) c.-345-5758T>G (n.-345-5758T>G) | |
1 | g.63623667T= | CA1171568762 | PGM1 | c.247-5758T= (n.247-5758T=) c.207T= (p.Asp69=) c.-345-5758T= (n.-345-5758T=) | |
1 | g.63623668C>A | CA340643942 | PGM1 | c.247-5757C>A (n.247-5757C>A) c.208C>A (p.Arg70Ser) c.-345-5757C>A (n.-345-5757C>A) | |
1 | g.63623668C= | CA1171568763 | PGM1 | c.247-5757C= (n.247-5757C=) c.208C= (p.Arg70=) c.-345-5757C= (n.-345-5757C=) | |
1 | g.63623668C>G | CA340643944 | PGM1 | c.247-5757C>G (n.247-5757C>G) c.208C>G (p.Arg70Gly) c.-345-5757C>G (n.-345-5757C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63623668C>T | CA889459 | PGM1 | c.247-5757C>T (n.247-5757C>T) c.208C>T (p.Arg70Cys) c.-345-5757C>T (n.-345-5757C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.63623669G>A | CA889461 | PGM1 | c.247-5756G>A (n.247-5756G>A) c.209G>A (p.Arg70His) c.-345-5756G>A (n.-345-5756G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63623669G>C | CA340643950 | PGM1 | c.247-5756G>C (n.247-5756G>C) c.209G>C (p.Arg70Pro) c.-345-5756G>C (n.-345-5756G>C) | |
1 | g.63623669G= | CA1144850676 | PGM1 | c.247-5756G= (n.247-5756G=) c.209G= (p.Arg70=) c.-345-5756G= (n.-345-5756G=) | |
1 | g.63623669G>T | CA889460 | PGM1 | c.247-5756G>T (n.247-5756G>T) c.209G>T (p.Arg70Leu) c.-345-5756G>T (n.-345-5756G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63623670C>A | CA418206012 | PGM1 | c.247-5755C>A (n.247-5755C>A) c.210C>A (p.Arg70=) c.-345-5755C>A (n.-345-5755C>A) | |
1 | g.63623670C>G | CA418206015 | PGM1 | c.247-5755C>G (n.247-5755C>G) c.210C>G (p.Arg70=) c.-345-5755C>G (n.-345-5755C>G) | gnomAD v4 |
1 | g.63623670C>T | CA418206013 | PGM1 | c.247-5755C>T (n.247-5755C>T) c.210C>T (p.Arg70=) c.-345-5755C>T (n.-345-5755C>T) | |
1 | g.63623671C>A | CA340643953 | PGM1 | c.247-5754C>A (n.247-5754C>A) c.211C>A (p.Gln71Lys) c.-345-5754C>A (n.-345-5754C>A) | |
1 | g.63623671C>G | CA340643954 | PGM1 | c.247-5754C>G (n.247-5754C>G) c.211C>G (p.Gln71Glu) c.-345-5754C>G (n.-345-5754C>G) | |
1 | g.63623671C>T | CA340643957 | PGM1 | c.247-5754C>T (n.247-5754C>T) c.211C>T (p.Gln71Ter) c.-345-5754C>T (n.-345-5754C>T) | |
1 | g.63623672A>C | CA340643967 | PGM1 | c.247-5753A>C (n.247-5753A>C) c.212A>C (p.Gln71Pro) c.-345-5753A>C (n.-345-5753A>C) | |
1 | g.63623672A>G | CA340643964 | PGM1 | c.247-5753A>G (n.247-5753A>G) c.212A>G (p.Gln71Arg) c.-345-5753A>G (n.-345-5753A>G) | |
1 | g.63623672A>T | CA340643961 | PGM1 | c.247-5753A>T (n.247-5753A>T) c.212A>T (p.Gln71Leu) c.-345-5753A>T (n.-345-5753A>T) | |
1 | g.63623673G>A | CA418206022 | PGM1 | c.247-5752G>A (n.247-5752G>A) c.213G>A (p.Gln71=) c.-345-5752G>A (n.-345-5752G>A) | |
1 | g.63623673G>C | CA340643970 | PGM1 | c.247-5752G>C (n.247-5752G>C) c.213G>C (p.Gln71His) c.-345-5752G>C (n.-345-5752G>C) | |
1 | g.63623673G>T | CA340643973 | PGM1 | c.247-5752G>T (n.247-5752G>T) c.213G>T (p.Gln71His) c.-345-5752G>T (n.-345-5752G>T) | |
1 | g.63623674G>A | CA889462 | PGM1 | c.247-5751G>A (n.247-5751G>A) c.214G>A (p.Gly72Arg) c.-345-5751G>A (n.-345-5751G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63623674G>C | CA340643979 | PGM1 | c.247-5751G>C (n.247-5751G>C) c.214G>C (p.Gly72Arg) c.-345-5751G>C (n.-345-5751G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63623674G= | CA1171568764 | PGM1 | c.247-5751G= (n.247-5751G=) c.214G= (p.Gly72=) c.-345-5751G= (n.-345-5751G=) | |
1 | g.63623674G>T | CA340643977 | PGM1 | c.247-5751G>T (n.247-5751G>T) c.214G>T (p.Gly72Ter) c.-345-5751G>T (n.-345-5751G>T) | |
1 | g.63623675G>A | CA340643982 | PGM1 | c.247-5750G>A (n.247-5750G>A) c.215G>A (p.Gly72Glu) c.-345-5750G>A (n.-345-5750G>A) | |
1 | g.63623675G>C | CA340643985 | PGM1 | c.247-5750G>C (n.247-5750G>C) c.215G>C (p.Gly72Ala) c.-345-5750G>C (n.-345-5750G>C) | |
1 | g.63623675G= | CA1171568765 | PGM1 | c.247-5750G= (n.247-5750G=) c.215G= (p.Gly72=) c.-345-5750G= (n.-345-5750G=) | |
1 | g.63623675G>T | CA340643987 | PGM1 | c.247-5750G>T (n.247-5750G>T) c.215G>T (p.Gly72Val) c.-345-5750G>T (n.-345-5750G>T) | dbSNP gnomAD v4 |
1 | g.63623676A>C | CA418206034 | PGM1 | c.247-5749A>C (n.247-5749A>C) c.216A>C (p.Gly72=) c.-345-5749A>C (n.-345-5749A>C) | |
1 | g.63623676A>G | CA418206035 | PGM1 | c.247-5749A>G (n.247-5749A>G) c.216A>G (p.Gly72=) c.-345-5749A>G (n.-345-5749A>G) | |
1 | g.63623676A>T | CA418206037 | PGM1 | c.247-5749A>T (n.247-5749A>T) c.216A>T (p.Gly72=) c.-345-5749A>T (n.-345-5749A>T) | gnomAD v4 |
1 | g.63623677T>A | CA340643990 | PGM1 | c.247-5748T>A (n.247-5748T>A) c.217T>A (p.Ser73Thr) c.-345-5748T>A (n.-345-5748T>A) | |
1 | g.63623677T>C | CA340643992 | PGM1 | c.247-5748T>C (n.247-5748T>C) c.217T>C (p.Ser73Pro) c.-345-5748T>C (n.-345-5748T>C) | |
1 | g.63623677T>G | CA340643994 | PGM1 | c.247-5748T>G (n.247-5748T>G) c.217T>G (p.Ser73Ala) c.-345-5748T>G (n.-345-5748T>G) | |
1 | g.63623678C>A | CA340643996 | PGM1 | c.247-5747C>A (n.247-5747C>A) c.218C>A (p.Ser73Ter) c.-345-5747C>A (n.-345-5747C>A) | |
1 | g.63623678C>G | CA340643998 | PGM1 | c.247-5747C>G (n.247-5747C>G) c.218C>G (p.Ser73Ter) c.-345-5747C>G (n.-345-5747C>G) | |
1 | g.63623678C>T | CA340644001 | PGM1 | c.247-5747C>T (n.247-5747C>T) c.218C>T (p.Ser73Leu) c.-345-5747C>T (n.-345-5747C>T) | |
1 | g.63623679A= | CA1143873925 | PGM1 | c.247-5746A= (n.247-5746A=) c.219A= (p.Ser73=) c.-345-5746A= (n.-345-5746A=) | |
1 | g.63623679A>C | CA418206047 | PGM1 | c.247-5746A>C (n.247-5746A>C) c.219A>C (p.Ser73=) c.-345-5746A>C (n.-345-5746A>C) | |
1 | g.63623679A>G | CA889463 | PGM1 | c.247-5746A>G (n.247-5746A>G) c.219A>G (p.Ser73=) c.-345-5746A>G (n.-345-5746A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63623679A>T | CA418206050 | PGM1 | c.247-5746A>T (n.247-5746A>T) c.219A>T (p.Ser73=) c.-345-5746A>T (n.-345-5746A>T) | |
1 | g.63623680T>A | CA340644005 | PGM1 | c.247-5745T>A (n.247-5745T>A) c.220T>A (p.Ser74Thr) c.-345-5745T>A (n.-345-5745T>A) | |
1 | g.63623680T>C | CA340644006 | PGM1 | c.247-5745T>C (n.247-5745T>C) c.220T>C (p.Ser74Pro) c.-345-5745T>C (n.-345-5745T>C) | |
1 | g.63623680T>G | CA340644009 | PGM1 | c.247-5745T>G (n.247-5745T>G) c.220T>G (p.Ser74Ala) c.-345-5745T>G (n.-345-5745T>G) | |
1 | g.63623681C>A | CA340644013 | PGM1 | c.247-5744C>A (n.247-5744C>A) c.221C>A (p.Ser74Ter) c.-345-5744C>A (n.-345-5744C>A) | |
1 | g.63623681C= | CA1171568766 | PGM1 | c.247-5744C= (n.247-5744C=) c.221C= (p.Ser74=) c.-345-5744C= (n.-345-5744C=) | |
1 | g.63623681C>G | CA340644018 | PGM1 | c.247-5744C>G (n.247-5744C>G) c.221C>G (p.Ser74Ter) c.-345-5744C>G (n.-345-5744C>G) | |
1 | g.63623681C>T | CA340644015 | PGM1 | c.247-5744C>T (n.247-5744C>T) c.221C>T (p.Ser74Leu) c.-345-5744C>T (n.-345-5744C>T) | dbSNP |
1 | g.63623682A= | CA1171568767 | PGM1 | c.247-5743A= (n.247-5743A=) c.222A= (p.Ser74=) c.-345-5743A= (n.-345-5743A=) | |
1 | g.63623682A>C | CA418206223 | PGM1 | c.247-5743A>C (n.247-5743A>C) c.222A>C (p.Ser74=) c.-345-5743A>C (n.-345-5743A>C) | |
1 | g.63623682A>G | CA418206225 | PGM1 | c.247-5743A>G (n.247-5743A>G) c.222A>G (p.Ser74=) c.-345-5743A>G (n.-345-5743A>G) | |
1 | g.63623682A>T | CA418206230 | PGM1 | c.247-5743A>T (n.247-5743A>T) c.222A>T (p.Ser74=) c.-345-5743A>T (n.-345-5743A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63623683C>A | CA340644021 | PGM1 | c.247-5742C>A (n.247-5742C>A) c.223C>A (p.Leu75Met) c.-345-5742C>A (n.-345-5742C>A) | |
1 | g.63623683C>G | CA340644023 | PGM1 | c.247-5742C>G (n.247-5742C>G) c.223C>G (p.Leu75Val) c.-345-5742C>G (n.-345-5742C>G) | |
1 | g.63623683C>T | CA418206238 | PGM1 | c.247-5742C>T (n.247-5742C>T) c.223C>T (p.Leu75=) c.-345-5742C>T (n.-345-5742C>T) | gnomAD v4 |
1 | g.63623684T>A | CA340644028 | PGM1 | c.247-5741T>A (n.247-5741T>A) c.224T>A (p.Leu75Gln) c.-345-5741T>A (n.-345-5741T>A) | |
1 | g.63623684T>C | CA340644030 | PGM1 | c.247-5741T>C (n.247-5741T>C) c.224T>C (p.Leu75Pro) c.-345-5741T>C (n.-345-5741T>C) | |
1 | g.63623684T>G | CA340644033 | PGM1 | c.247-5741T>G (n.247-5741T>G) c.224T>G (p.Leu75Arg) c.-345-5741T>G (n.-345-5741T>G) | |
1 | g.63623685G>A | CA418206250 | PGM1 | c.247-5740G>A (n.247-5740G>A) c.225G>A (p.Leu75=) c.-345-5740G>A (n.-345-5740G>A) | |
1 | g.63623685G>C | CA418206253 | PGM1 | c.247-5740G>C (n.247-5740G>C) c.225G>C (p.Leu75=) c.-345-5740G>C (n.-345-5740G>C) | |
1 | g.63623685G>T | CA418206255 | PGM1 | c.247-5740G>T (n.247-5740G>T) c.225G>T (p.Leu75=) c.-345-5740G>T (n.-345-5740G>T) | gnomAD v4 |
1 | g.63623685_63623686insT | CA23828116 | PGM1 | c.247-5740_247-5739insT (n.247-5740_247-5739insT) c.225_226insT (p.Val76CysfsTer10) c.-345-5740_-345-5739insT (n.-345-5740_-345-5739insT) | |
1 | g.63623686G>A | CA340644039 | PGM1 | c.247-5739G>A (n.247-5739G>A) c.226G>A (p.Val76Met) c.-345-5739G>A (n.-345-5739G>A) | |
1 | g.63623686G>C | CA340644041 | PGM1 | c.247-5739G>C (n.247-5739G>C) c.226G>C (p.Val76Leu) c.-345-5739G>C (n.-345-5739G>C) | |
1 | g.63623686G= | CA1171568768 | PGM1 | c.247-5739G= (n.247-5739G=) c.226G= (p.Val76=) c.-345-5739G= (n.-345-5739G=) | |
1 | g.63623686G>T | CA340644043 | PGM1 | c.247-5739G>T (n.247-5739G>T) c.226G>T (p.Val76Leu) c.-345-5739G>T (n.-345-5739G>T) | |
1 | g.63623687T>A | CA340644055 | PGM1 | c.247-5738T>A (n.247-5738T>A) c.227T>A (p.Val76Glu) c.-345-5738T>A (n.-345-5738T>A) | |
1 | g.63623687T>C | CA340644051 | PGM1 | c.247-5738T>C (n.247-5738T>C) c.227T>C (p.Val76Ala) c.-345-5738T>C (n.-345-5738T>C) | |
1 | g.63623687T>G | CA340644047 | PGM1 | c.247-5738T>G (n.247-5738T>G) c.227T>G (p.Val76Gly) c.-345-5738T>G (n.-345-5738T>G) | |
1 | g.63623687dup | CA889464 | PGM1 | c.247-5738dup (n.247-5738dup) c.227dup (p.Val77GlyfsTer9) c.-345-5738dup (n.-345-5738dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63623688G>A | CA889465 | PGM1 | c.247-5737G>A (n.247-5737G>A) c.228G>A (p.Val76=) c.-345-5737G>A (n.-345-5737G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63623688G>C | CA418206285 | PGM1 | c.247-5737G>C (n.247-5737G>C) c.228G>C (p.Val76=) c.-345-5737G>C (n.-345-5737G>C) | |
1 | g.63623688G= | CA1144075489 | PGM1 | c.247-5737G= (n.247-5737G=) c.228G= (p.Val76=) c.-345-5737G= (n.-345-5737G=) | |
1 | g.63623688G>T | CA418206287 | PGM1 | c.247-5737G>T (n.247-5737G>T) c.228G>T (p.Val76=) c.-345-5737G>T (n.-345-5737G>T) | dbSNP gnomAD v4 |
1 | g.63623689G>A | CA340644058 | PGM1 | c.247-5736G>A (n.247-5736G>A) c.229G>A (p.Val77Ile) c.-345-5736G>A (n.-345-5736G>A) | |
1 | g.63623689G>C | CA340644061 | PGM1 | c.247-5736G>C (n.247-5736G>C) c.229G>C (p.Val77Leu) c.-345-5736G>C (n.-345-5736G>C) | |
1 | g.63623689G>T | CA340644064 | PGM1 | c.247-5736G>T (n.247-5736G>T) c.229G>T (p.Val77Phe) c.-345-5736G>T (n.-345-5736G>T) | |
1 | g.63623690T>A | CA340644069 | PGM1 | c.247-5735T>A (n.247-5735T>A) c.230T>A (p.Val77Asp) c.-345-5735T>A (n.-345-5735T>A) | |
1 | g.63623690T>C | CA340644067 | PGM1 | c.247-5735T>C (n.247-5735T>C) c.230T>C (p.Val77Ala) c.-345-5735T>C (n.-345-5735T>C) | |
1 | g.63623690T>G | CA340644066 | PGM1 | c.247-5735T>G (n.247-5735T>G) c.230T>G (p.Val77Gly) c.-345-5735T>G (n.-345-5735T>G) | |
1 | g.63623691T>A | CA418206320 | PGM1 | c.247-5734T>A (n.247-5734T>A) c.231T>A (p.Val77=) c.-345-5734T>A (n.-345-5734T>A) | |
1 | g.63623691T>C | CA418206300 | PGM1 | c.247-5734T>C (n.247-5734T>C) c.231T>C (p.Val77=) c.-345-5734T>C (n.-345-5734T>C) | |
1 | g.63623691T>G | CA418206303 | PGM1 | c.247-5734T>G (n.247-5734T>G) c.231T>G (p.Val77=) c.-345-5734T>G (n.-345-5734T>G) | |
1 | g.63623692G>A | CA340644072 | PGM1 | c.247-5733G>A (n.247-5733G>A) c.232G>A (p.Gly78Ser) c.-345-5733G>A (n.-345-5733G>A) | gnomAD v4 |
1 | g.63623692G>C | CA340644074 | PGM1 | c.247-5733G>C (n.247-5733G>C) c.232G>C (p.Gly78Arg) c.-345-5733G>C (n.-345-5733G>C) | |
1 | g.63623692G>T | CA340644076 | PGM1 | c.247-5733G>T (n.247-5733G>T) c.232G>T (p.Gly78Cys) c.-345-5733G>T (n.-345-5733G>T) | |
1 | g.63623693G>A | CA340644080 | PGM1 | c.247-5732G>A (n.247-5732G>A) c.233G>A (p.Gly78Asp) c.-345-5732G>A (n.-345-5732G>A) | dbSNP |
1 | g.63623693G>C | CA340644082 | PGM1 | c.247-5732G>C (n.247-5732G>C) c.233G>C (p.Gly78Ala) c.-345-5732G>C (n.-345-5732G>C) | |
1 | g.63623693G= | CA1171568769 | PGM1 | c.247-5732G= (n.247-5732G=) c.233G= (p.Gly78=) c.-345-5732G= (n.-345-5732G=) | |
1 | g.63623693G>T | CA340644083 | PGM1 | c.247-5732G>T (n.247-5732G>T) c.233G>T (p.Gly78Val) c.-345-5732G>T (n.-345-5732G>T) | |
1 | g.63623694T>A | CA418206358 | PGM1 | c.247-5731T>A (n.247-5731T>A) c.234T>A (p.Gly78=) c.-345-5731T>A (n.-345-5731T>A) | |
1 | g.63623694T>C | CA418206360 | PGM1 | c.247-5731T>C (n.247-5731T>C) c.234T>C (p.Gly78=) c.-345-5731T>C (n.-345-5731T>C) | |
1 | g.63623694T>G | CA418206361 | PGM1 | c.247-5731T>G (n.247-5731T>G) c.234T>G (p.Gly78=) c.-345-5731T>G (n.-345-5731T>G) | |
1 | g.63623695G>A | CA340644087 | PGM1 | c.247-5730G>A (n.247-5730G>A) c.235G>A (p.Gly79Arg) c.-345-5730G>A (n.-345-5730G>A) | gnomAD v4 |
1 | g.63623695G>C | CA340644090 | PGM1 | c.247-5730G>C (n.247-5730G>C) c.235G>C (p.Gly79Arg) c.-345-5730G>C (n.-345-5730G>C) | |
1 | g.63623695G>T | CA340644088 | PGM1 | c.247-5730G>T (n.247-5730G>T) c.235G>T (p.Gly79Ter) c.-345-5730G>T (n.-345-5730G>T) | |
1 | g.63623696G>A | CA340644093 | PGM1 | c.247-5729G>A (n.247-5729G>A) c.236G>A (p.Gly79Glu) c.-345-5729G>A (n.-345-5729G>A) | |
1 | g.63623696G>C | CA340644095 | PGM1 | c.247-5729G>C (n.247-5729G>C) c.236G>C (p.Gly79Ala) c.-345-5729G>C (n.-345-5729G>C) | |
1 | g.63623696G>T | CA340644098 | PGM1 | c.247-5729G>T (n.247-5729G>T) c.236G>T (p.Gly79Val) c.-345-5729G>T (n.-345-5729G>T) | |
1 | g.63623697A>C | CA418206390 | PGM1 | c.247-5728A>C (n.247-5728A>C) c.237A>C (p.Gly79=) c.-345-5728A>C (n.-345-5728A>C) | |
1 | g.63623697A>G | CA418206394 | PGM1 | c.247-5728A>G (n.247-5728A>G) c.237A>G (p.Gly79=) c.-345-5728A>G (n.-345-5728A>G) | |
1 | g.63623697A>T | CA418206397 | PGM1 | c.247-5728A>T (n.247-5728A>T) c.237A>T (p.Gly79=) c.-345-5728A>T (n.-345-5728A>T) | |
1 | g.63623698G>A | CA340644100 | PGM1 | c.247-5727G>A (n.247-5727G>A) c.238G>A (p.Asp80Asn) c.-345-5727G>A (n.-345-5727G>A) | |
1 | g.63623698G>C | CA340644102 | PGM1 | c.247-5727G>C (n.247-5727G>C) c.238G>C (p.Asp80His) c.-345-5727G>C (n.-345-5727G>C) | gnomAD v4 |
1 | g.63623698G>T | CA340644105 | PGM1 | c.247-5727G>T (n.247-5727G>T) c.238G>T (p.Asp80Tyr) c.-345-5727G>T (n.-345-5727G>T) | |
1 | g.63623699A>C | CA340644107 | PGM1 | c.247-5726A>C (n.247-5726A>C) c.239A>C (p.Asp80Ala) c.-345-5726A>C (n.-345-5726A>C) | |
1 | g.63623699A>G | CA340644110 | PGM1 | c.247-5726A>G (n.247-5726A>G) c.239A>G (p.Asp80Gly) c.-345-5726A>G (n.-345-5726A>G) | |
1 | g.63623699A>T | CA340644113 | PGM1 | c.247-5726A>T (n.247-5726A>T) c.239A>T (p.Asp80Val) c.-345-5726A>T (n.-345-5726A>T) | |
1 | g.63623700T>A | CA340644116 | PGM1 | c.247-5725T>A (n.247-5725T>A) c.240T>A (p.Asp80Glu) c.-345-5725T>A (n.-345-5725T>A) | |
1 | g.63623700T>C | CA418206423 | PGM1 | c.247-5725T>C (n.247-5725T>C) c.240T>C (p.Asp80=) c.-345-5725T>C (n.-345-5725T>C) | gnomAD v4 |
1 | g.63623700T>G | CA340644123 | PGM1 | c.247-5725T>G (n.247-5725T>G) c.240T>G (p.Asp80Glu) c.-345-5725T>G (n.-345-5725T>G) | |
1 | g.63623700_63623701delinsTG | CA1171568770 | PGM1 | c.247-5725_247-5724delinsTG (n.247-5725_247-5724delinsTG) c.240_241delinsTG (p.Asp80=) c.-345-5725_-345-5724delinsTG (n.-345-5725_-345-5724delinsTG) | |
1 | g.63623701G>A | CA340644130 | PGM1 | c.247-5724G>A (n.247-5724G>A) c.241G>A (p.Gly81Arg) c.-345-5724G>A (n.-345-5724G>A) | |
1 | g.63623701G>C | CA340644127 | PGM1 | c.247-5724G>C (n.247-5724G>C) c.241G>C (p.Gly81Arg) c.-345-5724G>C (n.-345-5724G>C) | |
1 | g.63623701G>T | CA340644125 | PGM1 | c.247-5724G>T (n.247-5724G>T) c.241G>T (p.Gly81Trp) c.-345-5724G>T (n.-345-5724G>T) | gnomAD v4 |
1 | g.63623703del | CA523565962 | PGM1 | c.247-5722del (n.247-5722del) c.243del (p.Arg82GlyfsTer8) c.-345-5722del (n.-345-5722del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63623702G>A | CA340644132 | PGM1 | c.247-5723G>A (n.247-5723G>A) c.242G>A (p.Gly81Glu) c.-345-5723G>A (n.-345-5723G>A) | |
1 | g.63623702G>C | CA340644136 | PGM1 | c.247-5723G>C (n.247-5723G>C) c.242G>C (p.Gly81Ala) c.-345-5723G>C (n.-345-5723G>C) | |
1 | g.63623702G>T | CA340644134 | PGM1 | c.247-5723G>T (n.247-5723G>T) c.242G>T (p.Gly81Val) c.-345-5723G>T (n.-345-5723G>T) |