UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151259740_151259747del | CA2768914047 | GM2A | c.82-15_82-8del (n.82-15_82-8del) c.127-15_127-8del (n.127-15_127-8del) | |
| 5 | g.151259746T>A | CA3517865 | GM2A | c.82-9T>A (n.82-9T>A) c.127-9T>A (n.127-9T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259746T= | CA1591312062 | GM2A | c.82-9T= (n.82-9T=) c.127-9T= (n.127-9T=) | |
| 5 | g.151259747G>A | CA129894815 | GM2A | c.82-8G>A (n.82-8G>A) c.127-8G>A (n.127-8G>A) | dbSNP gnomAD v4 |
| 5 | g.151259747G>C | CA3517866 | GM2A | c.82-8G>C (n.82-8G>C) c.127-8G>C (n.127-8G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259747G= | CA1591312063 | GM2A | c.82-8G= (n.82-8G=) c.127-8G= (n.127-8G=) | |
| 5 | g.151259749C>A | CA2676067199 | GM2A | c.82-6C>A (n.82-6C>A) c.127-6C>A (n.127-6C>A) | gnomAD v4 |
| 5 | g.151259749C= | CA1591312064 | GM2A | c.82-6C= (n.82-6C=) c.127-6C= (n.127-6C=) | |
| 5 | g.151259749C>T | CA805653595 | GM2A | c.82-6C>T (n.82-6C>T) c.127-6C>T (n.127-6C>T) | dbSNP gnomAD v4 |
| 5 | g.151259750C>A | CA563957653 | GM2A | c.82-5C>A (n.82-5C>A) c.127-5C>A (n.127-5C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259750C= | CA1591312065 | GM2A | c.82-5C= (n.82-5C=) c.127-5C= (n.127-5C=) | |
| 5 | g.151259750C>T | CA563957654 | GM2A | c.82-5C>T (n.82-5C>T) c.127-5C>T (n.127-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259751C>T | CA2676067200 | GM2A | c.82-4C>T (n.82-4C>T) c.127-4C>T (n.127-4C>T) | gnomAD v4 |
| 5 | g.151259752C= | CA1591312066 | GM2A | c.82-3C= (n.82-3C=) c.127-3C= (n.127-3C=) | |
| 5 | g.151259752C>T | CA563957655 | GM2A | c.82-3C>T (n.82-3C>T) c.127-3C>T (n.127-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259753A>C | CA361805703 | GM2A | c.82-2A>C (n.82-2A>C) c.127-2A>C (n.127-2A>C) | |
| 5 | g.151259753A>G | CA361805705 | GM2A | c.82-2A>G (n.82-2A>G) c.127-2A>G (n.127-2A>G) | |
| 5 | g.151259753A>T | CA361805708 | GM2A | c.82-2A>T (n.82-2A>T) c.127-2A>T (n.127-2A>T) | |
| 5 | g.151259754G>A | CA361805710 | GM2A | c.82-1G>A (n.82-1G>A) c.127-1G>A (n.127-1G>A) | dbSNP |
| 5 | g.151259754G>C | CA361805712 | GM2A | c.82-1G>C (n.82-1G>C) c.127-1G>C (n.127-1G>C) | |
| 5 | g.151259754G= | CA1591312067 | GM2A | c.82-1G= (n.82-1G=) c.127-1G= (n.127-1G=) | |
| 5 | g.151259754G>T | CA361805714 | GM2A | c.82-1G>T (n.82-1G>T) c.127-1G>T (n.127-1G>T) | |
| 5 | g.151259755C>A | CA361805717 | GM2A | c.82C>A (p.Pro28Thr) c.127C>A (p.Pro43Thr) | |
| 5 | g.151259755C>G | CA361805718 | GM2A | c.82C>G (p.Pro28Ala) c.127C>G (p.Pro43Ala) | |
| 5 | g.151259755C>T | CA361805720 | GM2A | c.82C>T (p.Pro28Ser) c.127C>T (p.Pro43Ser) | |
| 5 | g.151259756C>A | CA361805723 | GM2A | c.83C>A (p.Pro28Gln) c.128C>A (p.Pro43Gln) | |
| 5 | g.151259756C>G | CA361805721 | GM2A | c.83C>G (p.Pro28Arg) c.128C>G (p.Pro43Arg) | |
| 5 | g.151259756C>T | CA361805722 | GM2A | c.83C>T (p.Pro28Leu) c.128C>T (p.Pro43Leu) | |
| 5 | g.151259757A>C | CA447179826 | GM2A | c.84A>C (p.Pro28=) c.129A>C (p.Pro43=) | |
| 5 | g.151259757A>G | CA447179827 | GM2A | c.84A>G (p.Pro28=) c.129A>G (p.Pro43=) | ClinVar |
| 5 | g.151259757A>T | CA447179828 | GM2A | c.84A>T (p.Pro28=) c.129A>T (p.Pro43=) | |
| 5 | g.151259758T>A | CA361805724 | GM2A | c.85T>A (p.Ser29Thr) c.130T>A (p.Ser44Thr) | |
| 5 | g.151259758T>C | CA361805725 | GM2A | c.85T>C (p.Ser29Pro) c.130T>C (p.Ser44Pro) | ClinVar dbSNP |
| 5 | g.151259758T>G | CA361805726 | GM2A | c.85T>G (p.Ser29Ala) c.130T>G (p.Ser44Ala) | |
| 5 | g.151259758T= | CA1591312068 | GM2A | c.85T= (p.Ser29=) c.130T= (p.Ser44=) | |
| 5 | g.151259759C>A | CA361805727 | GM2A | c.86C>A (p.Ser29Tyr) c.131C>A (p.Ser44Tyr) | |
| 5 | g.151259759C= | CA1591312069 | GM2A | c.86C= (p.Ser29=) c.131C= (p.Ser44=) | |
| 5 | g.151259759C>G | CA361805728 | GM2A | c.86C>G (p.Ser29Cys) c.131C>G (p.Ser44Cys) | |
| 5 | g.151259759C>T | CA3517867 | GM2A | c.86C>T (p.Ser29Phe) c.131C>T (p.Ser44Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259760C>A | CA447179831 | GM2A | c.87C>A (p.Ser29=) c.132C>A (p.Ser44=) | |
| 5 | g.151259760C>G | CA447179829 | GM2A | c.87C>G (p.Ser29=) c.132C>G (p.Ser44=) | |
| 5 | g.151259760C>T | CA447179830 | GM2A | c.87C>T (p.Ser29=) c.132C>T (p.Ser44=) | |
| 5 | g.151259761C>A | CA361805729 | GM2A | c.88C>A (p.Gln30Lys) c.133C>A (p.Gln45Lys) | |
| 5 | g.151259761C>G | CA361805730 | GM2A | c.88C>G (p.Gln30Glu) c.133C>G (p.Gln45Glu) | |
| 5 | g.151259761C>T | CA361805731 | GM2A | c.88C>T (p.Gln30Ter) c.133C>T (p.Gln45Ter) | gnomAD v4 |
| 5 | g.151259762A>C | CA361805732 | GM2A | c.89A>C (p.Gln30Pro) c.134A>C (p.Gln45Pro) | |
| 5 | g.151259762A>G | CA361805733 | GM2A | c.89A>G (p.Gln30Arg) c.134A>G (p.Gln45Arg) | |
| 5 | g.151259762A>T | CA361805734 | GM2A | c.89A>T (p.Gln30Leu) c.134A>T (p.Gln45Leu) | |
| 5 | g.151259763G>A | CA447179832 | GM2A | c.90G>A (p.Gln30=) c.135G>A (p.Gln45=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259763G>C | CA361805735 | GM2A | c.90G>C (p.Gln30His) c.135G>C (p.Gln45His) | |
| 5 | g.151259763G= | CA1591312070 | GM2A | c.90G= (p.Gln30=) c.135G= (p.Gln45=) | |
| 5 | g.151259763G>T | CA3517868 | GM2A | c.90G>T (p.Gln30His) c.135G>T (p.Gln45His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259764C>A | CA361805736 | GM2A | c.91C>A (p.Leu31Ile) c.136C>A (p.Leu46Ile) | |
| 5 | g.151259764C= | CA1591312071 | GM2A | c.91C= (p.Leu31=) c.136C= (p.Leu46=) | |
| 5 | g.151259764C>G | CA361805737 | GM2A | c.91C>G (p.Leu31Val) c.136C>G (p.Leu46Val) | dbSNP gnomAD v4 |
| 5 | g.151259764C>T | CA361805738 | GM2A | c.91C>T (p.Leu31Phe) c.136C>T (p.Leu46Phe) | |
| 5 | g.151259765T>A | CA361805739 | GM2A | c.92T>A (p.Leu31His) c.137T>A (p.Leu46His) | |
| 5 | g.151259765T>C | CA3517869 | GM2A | c.92T>C (p.Leu31Pro) c.137T>C (p.Leu46Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259765T>G | CA361805740 | GM2A | c.92T>G (p.Leu31Arg) c.137T>G (p.Leu46Arg) | |
| 5 | g.151259765T= | CA1591312072 | GM2A | c.92T= (p.Leu31=) c.137T= (p.Leu46=) | |
| 5 | g.151259766C>A | CA447179835 | GM2A | c.93C>A (p.Leu31=) c.138C>A (p.Leu46=) | |
| 5 | g.151259766C= | CA1591312073 | GM2A | c.93C= (p.Leu31=) c.138C= (p.Leu46=) | |
| 5 | g.151259766C>G | CA447179833 | GM2A | c.93C>G (p.Leu31=) c.138C>G (p.Leu46=) | |
| 5 | g.151259766C>T | CA447179834 | GM2A | c.93C>T (p.Leu31=) c.138C>T (p.Leu46=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259767A= | CA1591312074 | GM2A | c.94A= (p.Ser32=) c.139A= (p.Ser47=) | |
| 5 | g.151259767A>C | CA361805743 | GM2A | c.94A>C (p.Ser32Arg) c.139A>C (p.Ser47Arg) | dbSNP gnomAD v4 |
| 5 | g.151259767A>G | CA361805741 | GM2A | c.94A>G (p.Ser32Gly) c.139A>G (p.Ser47Gly) | |
| 5 | g.151259767A>T | CA361805742 | GM2A | c.94A>T (p.Ser32Cys) c.139A>T (p.Ser47Cys) | |
| 5 | g.151259768G>A | CA3517870 | GM2A | c.95G>A (p.Ser32Asn) c.140G>A (p.Ser47Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259768G>C | CA361805744 | GM2A | c.95G>C (p.Ser32Thr) c.140G>C (p.Ser47Thr) | |
| 5 | g.151259768G= | CA1591312075 | GM2A | c.95G= (p.Ser32=) c.140G= (p.Ser47=) | |
| 5 | g.151259768G>T | CA361805745 | GM2A | c.95G>T (p.Ser32Ile) c.140G>T (p.Ser47Ile) | |
| 5 | g.151259769T>A | CA361805746 | GM2A | c.96T>A (p.Ser32Arg) c.141T>A (p.Ser47Arg) | |
| 5 | g.151259769T>C | CA447179836 | GM2A | c.96T>C (p.Ser32=) c.141T>C (p.Ser47=) | gnomAD v4 |
| 5 | g.151259769T>G | CA361805747 | GM2A | c.96T>G (p.Ser32Arg) c.141T>G (p.Ser47Arg) | |
| 5 | g.151259770A>C | CA361805750 | GM2A | c.97A>C (p.Ser33Arg) c.142A>C (p.Ser48Arg) | |
| 5 | g.151259770A>G | CA361805748 | GM2A | c.97A>G (p.Ser33Gly) c.142A>G (p.Ser48Gly) | |
| 5 | g.151259770A>T | CA361805749 | GM2A | c.97A>T (p.Ser33Cys) c.142A>T (p.Ser48Cys) | |
| 5 | g.151259771del | CA2578457852 | GM2A | c.98del (p.Ser33ThrfsTer15) c.143del (p.Ser48ThrfsTer15) | |
| 5 | g.151259771G>A | CA361805751 | GM2A | c.98G>A (p.Ser33Asn) c.143G>A (p.Ser48Asn) | ClinVar dbSNP |
| 5 | g.151259771G>C | CA361805752 | GM2A | c.98G>C (p.Ser33Thr) c.143G>C (p.Ser48Thr) | |
| 5 | g.151259771G= | CA1591312076 | GM2A | c.98G= (p.Ser33=) c.143G= (p.Ser48=) | |
| 5 | g.151259771G>T | CA361805753 | GM2A | c.98G>T (p.Ser33Ile) c.143G>T (p.Ser48Ile) | |
| 5 | g.151259772C>A | CA361805754 | GM2A | c.99C>A (p.Ser33Arg) c.144C>A (p.Ser48Arg) | |
| 5 | g.151259772C= | CA1591312077 | GM2A | c.99C= (p.Ser33=) c.144C= (p.Ser48=) | |
| 5 | g.151259772C>G | CA361805755 | GM2A | c.99C>G (p.Ser33Arg) c.144C>G (p.Ser48Arg) | dbSNP |
| 5 | g.151259772C>T | CA447179837 | GM2A | c.99C>T (p.Ser33=) c.144C>T (p.Ser48=) | |
| 5 | g.151259773T>A | CA361805756 | GM2A | c.100T>A (p.Phe34Ile) c.145T>A (p.Phe49Ile) | |
| 5 | g.151259773T>C | CA3517871 | GM2A | c.100T>C (p.Phe34Leu) c.145T>C (p.Phe49Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259773T>G | CA361805757 | GM2A | c.100T>G (p.Phe34Val) c.145T>G (p.Phe49Val) | |
| 5 | g.151259773T= | CA1591312078 | GM2A | c.100T= (p.Phe34=) c.145T= (p.Phe49=) | |
| 5 | g.151259774T>A | CA361805758 | GM2A | c.101T>A (p.Phe34Tyr) c.146T>A (p.Phe49Tyr) | |
| 5 | g.151259774T>C | CA361805759 | GM2A | c.101T>C (p.Phe34Ser) c.146T>C (p.Phe49Ser) | |
| 5 | g.151259774T>G | CA361805760 | GM2A | c.101T>G (p.Phe34Cys) c.146T>G (p.Phe49Cys) | |
| 5 | g.151259775T>A | CA361805761 | GM2A | c.102T>A (p.Phe34Leu) c.147T>A (p.Phe49Leu) | |
| 5 | g.151259775T>C | CA447179838 | GM2A | c.102T>C (p.Phe34=) c.147T>C (p.Phe49=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259775T>G | CA361805762 | GM2A | c.102T>G (p.Phe34Leu) c.147T>G (p.Phe49Leu) | |
| 5 | g.151259775T= | CA1591312079 | GM2A | c.102T= (p.Phe34=) c.147T= (p.Phe49=) | |
| 5 | g.151259776T>A | CA361805763 | GM2A | c.103T>A (p.Ser35Thr) c.148T>A (p.Ser50Thr) | |
| 5 | g.151259776T>C | CA361805765 | GM2A | c.103T>C (p.Ser35Pro) c.148T>C (p.Ser50Pro) | |
| 5 | g.151259776T>G | CA361805764 | GM2A | c.103T>G (p.Ser35Ala) c.148T>G (p.Ser50Ala) | gnomAD v4 |
| 5 | g.151259777C>A | CA361805766 | GM2A | c.104C>A (p.Ser35Tyr) c.149C>A (p.Ser50Tyr) | |
| 5 | g.151259777C>G | CA361805767 | GM2A | c.104C>G (p.Ser35Cys) c.149C>G (p.Ser50Cys) | |
| 5 | g.151259777C>T | CA361805768 | GM2A | c.104C>T (p.Ser35Phe) c.149C>T (p.Ser50Phe) | |
| 5 | g.151259778C>A | CA447179839 | GM2A | c.105C>A (p.Ser35=) c.150C>A (p.Ser50=) | |
| 5 | g.151259778C>G | CA447179840 | GM2A | c.105C>G (p.Ser35=) c.150C>G (p.Ser50=) | gnomAD v4 |
| 5 | g.151259778C>T | CA447179841 | GM2A | c.105C>T (p.Ser35=) c.150C>T (p.Ser50=) | gnomAD v4 |
| 5 | g.151259779T>A | CA361805769 | GM2A | c.106T>A (p.Trp36Arg) c.151T>A (p.Trp51Arg) | |
| 5 | g.151259779T>C | CA361805770 | GM2A | c.106T>C (p.Trp36Arg) c.151T>C (p.Trp51Arg) | |
| 5 | g.151259779T>G | CA361805771 | GM2A | c.106T>G (p.Trp36Gly) c.151T>G (p.Trp51Gly) | |
| 5 | g.151259780G>A | CA361805772 | GM2A | c.107G>A (p.Trp36Ter) c.152G>A (p.Trp51Ter) | |
| 5 | g.151259780G>C | CA361805773 | GM2A | c.107G>C (p.Trp36Ser) c.152G>C (p.Trp51Ser) | |
| 5 | g.151259780G>T | CA361805774 | GM2A | c.107G>T (p.Trp36Leu) c.152G>T (p.Trp51Leu) | |
| 5 | g.151259781G>A | CA361805775 | GM2A | c.108G>A (p.Trp36Ter) c.153G>A (p.Trp51Ter) | |
| 5 | g.151259781G>C | CA361805776 | GM2A | c.108G>C (p.Trp36Cys) c.153G>C (p.Trp51Cys) | |
| 5 | g.151259781G>T | CA361805777 | GM2A | c.108G>T (p.Trp36Cys) c.153G>T (p.Trp51Cys) | |
| 5 | g.151259782G>A | CA361805780 | GM2A | c.109G>A (p.Asp37Asn) c.154G>A (p.Asp52Asn) | |
| 5 | g.151259782G>C | CA361805778 | GM2A | c.109G>C (p.Asp37His) c.154G>C (p.Asp52His) | |
| 5 | g.151259782G>T | CA361805779 | GM2A | c.109G>T (p.Asp37Tyr) c.154G>T (p.Asp52Tyr) | gnomAD v4 |
| 5 | g.151259783A= | CA1591312080 | GM2A | c.110A= (p.Asp37=) c.155A= (p.Asp52=) | |
| 5 | g.151259783A>C | CA361805781 | GM2A | c.110A>C (p.Asp37Ala) c.155A>C (p.Asp52Ala) | |
| 5 | g.151259783A>G | CA3517872 | GM2A | c.110A>G (p.Asp37Gly) c.155A>G (p.Asp52Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259783A>T | CA361805782 | GM2A | c.110A>T (p.Asp37Val) c.155A>T (p.Asp52Val) | dbSNP gnomAD v4 |
| 5 | g.151259784T>A | CA361805783 | GM2A | c.111T>A (p.Asp37Glu) c.156T>A (p.Asp52Glu) | gnomAD v4 |
| 5 | g.151259784T>C | CA447179842 | GM2A | c.111T>C (p.Asp37=) c.156T>C (p.Asp52=) | |
| 5 | g.151259784T>G | CA361805784 | GM2A | c.111T>G (p.Asp37Glu) c.156T>G (p.Asp52Glu) | |
| 5 | g.151259784dup | CA3517873 | GM2A | c.111dup (p.Asn38Ter) c.156dup (p.Asn53Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259785A>C | CA361805785 | GM2A | c.112A>C (p.Asn38His) c.157A>C (p.Asn53His) | |
| 5 | g.151259785A>G | CA361805786 | GM2A | c.112A>G (p.Asn38Asp) c.157A>G (p.Asn53Asp) | |
| 5 | g.151259785A>T | CA361805787 | GM2A | c.112A>T (p.Asn38Tyr) c.157A>T (p.Asn53Tyr) | |
| 5 | g.151259786A>C | CA361805788 | GM2A | c.113A>C (p.Asn38Thr) c.158A>C (p.Asn53Thr) | |
| 5 | g.151259786A>G | CA361805789 | GM2A | c.113A>G (p.Asn38Ser) c.158A>G (p.Asn53Ser) | |
| 5 | g.151259786A>T | CA361805790 | GM2A | c.113A>T (p.Asn38Ile) c.158A>T (p.Asn53Ile) | |
| 5 | g.151259787del | CA447179843 | GM2A | c.114del (p.Cys39ValfsTer9) c.159del (p.Cys54ValfsTer9) | COSMIC |
| 5 | g.151259787C>A | CA361805792 | GM2A | c.114C>A (p.Asn38Lys) c.159C>A (p.Asn53Lys) | |
| 5 | g.151259787C= | CA1591312081 | GM2A | c.114C= (p.Asn38=) c.159C= (p.Asn53=) | |
| 5 | g.151259787C>G | CA361805791 | GM2A | c.114C>G (p.Asn38Lys) c.159C>G (p.Asn53Lys) | |
| 5 | g.151259787C>T | CA129894879 | GM2A | c.114C>T (p.Asn38=) c.159C>T (p.Asn53=) | dbSNP gnomAD v4 |
| 5 | g.151259788T>A | CA361805793 | GM2A | c.115T>A (p.Cys39Ser) c.160T>A (p.Cys54Ser) | |
| 5 | g.151259788T>C | CA361805795 | GM2A | c.115T>C (p.Cys39Arg) c.160T>C (p.Cys54Arg) | |
| 5 | g.151259788T>G | CA361805794 | GM2A | c.115T>G (p.Cys39Gly) c.160T>G (p.Cys54Gly) | |
| 5 | g.151259789G>A | CA361805796 | GM2A | c.116G>A (p.Cys39Tyr) c.161G>A (p.Cys54Tyr) | |
| 5 | g.151259789G>C | CA361805797 | GM2A | c.116G>C (p.Cys39Ser) c.161G>C (p.Cys54Ser) | |
| 5 | g.151259789G>T | CA361805798 | GM2A | c.116G>T (p.Cys39Phe) c.161G>T (p.Cys54Phe) | |
| 5 | g.151259790T>A | CA361805799 | GM2A | c.117T>A (p.Cys39Ter) c.162T>A (p.Cys54Ter) | |
| 5 | g.151259790T>C | CA447179844 | GM2A | c.117T>C (p.Cys39=) c.162T>C (p.Cys54=) | |
| 5 | g.151259790T>G | CA361805800 | GM2A | c.117T>G (p.Cys39Trp) c.162T>G (p.Cys54Trp) | |
| 5 | g.151259791G>A | CA361805801 | GM2A | c.118G>A (p.Asp40Asn) c.163G>A (p.Asp55Asn) | |
| 5 | g.151259791G>C | CA361805802 | GM2A | c.118G>C (p.Asp40His) c.163G>C (p.Asp55His) | |
| 5 | g.151259791G>T | CA361805803 | GM2A | c.118G>T (p.Asp40Tyr) c.163G>T (p.Asp55Tyr) | |
| 5 | g.151259792A>C | CA361805804 | GM2A | c.119A>C (p.Asp40Ala) c.164A>C (p.Asp55Ala) | |
| 5 | g.151259792A>G | CA361805805 | GM2A | c.119A>G (p.Asp40Gly) c.164A>G (p.Asp55Gly) | |
| 5 | g.151259792A>T | CA361805806 | GM2A | c.119A>T (p.Asp40Val) c.164A>T (p.Asp55Val) | |
| 5 | g.151259793T>A | CA361805807 | GM2A | c.120T>A (p.Asp40Glu) c.165T>A (p.Asp55Glu) | |
| 5 | g.151259793T>C | CA447179845 | GM2A | c.120T>C (p.Asp40=) c.165T>C (p.Asp55=) | |
| 5 | g.151259793T>G | CA361805808 | GM2A | c.120T>G (p.Asp40Glu) c.165T>G (p.Asp55Glu) | gnomAD v4 |
| 5 | g.151259794G>A | CA361805811 | GM2A | c.121G>A (p.Glu41Lys) c.166G>A (p.Glu56Lys) | |
| 5 | g.151259794G>C | CA361805809 | GM2A | c.121G>C (p.Glu41Gln) c.166G>C (p.Glu56Gln) | |
| 5 | g.151259794G>T | CA361805810 | GM2A | c.121G>T (p.Glu41Ter) c.166G>T (p.Glu56Ter) | |
| 5 | g.151259795A>C | CA361805812 | GM2A | c.122A>C (p.Glu41Ala) c.167A>C (p.Glu56Ala) | |
| 5 | g.151259795A>G | CA361805813 | GM2A | c.122A>G (p.Glu41Gly) c.167A>G (p.Glu56Gly) | |
| 5 | g.151259795A>T | CA361805814 | GM2A | c.122A>T (p.Glu41Val) c.167A>T (p.Glu56Val) | COSMIC |
| 5 | g.151259796A= | CA1591312082 | GM2A | c.123A= (p.Glu41=) c.168A= (p.Glu56=) | |
| 5 | g.151259796A>C | CA361805815 | GM2A | c.123A>C (p.Glu41Asp) c.168A>C (p.Glu56Asp) | |
| 5 | g.151259796A>G | CA447179846 | GM2A | c.123A>G (p.Glu41=) c.168A>G (p.Glu56=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259796A>T | CA361805816 | GM2A | c.123A>T (p.Glu41Asp) c.168A>T (p.Glu56Asp) | |
| 5 | g.151259797G>A | CA361805817 | GM2A | c.124G>A (p.Gly42Arg) c.169G>A (p.Gly57Arg) | |
| 5 | g.151259797G>C | CA361805818 | GM2A | c.124G>C (p.Gly42Arg) c.169G>C (p.Gly57Arg) | gnomAD v4 |
| 5 | g.151259797G>T | CA361805819 | GM2A | c.124G>T (p.Gly42Trp) c.169G>T (p.Gly57Trp) | |
| 5 | g.151259798G>A | CA361805820 | GM2A | c.125G>A (p.Gly42Glu) c.170G>A (p.Gly57Glu) | dbSNP gnomAD v4 |
| 5 | g.151259798G>C | CA361805821 | GM2A | c.125G>C (p.Gly42Ala) c.170G>C (p.Gly57Ala) | |
| 5 | g.151259798G= | CA1591312083 | GM2A | c.125G= (p.Gly42=) c.170G= (p.Gly57=) | |
| 5 | g.151259798G>T | CA361805822 | GM2A | c.125G>T (p.Gly42Val) c.170G>T (p.Gly57Val) | |
| 5 | g.151259799G>A | CA3517874 | GM2A | c.126G>A (p.Gly42=) c.1G>A c.171G>A (p.Gly57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259799G>C | CA447179847 | GM2A | c.126G>C (p.Gly42=) c.1G>C c.171G>C (p.Gly57=) | |
| 5 | g.151259799G= | CA1591312084 | GM2A | c.126G= (p.Gly42=) c.1G= c.171G= (p.Gly57=) | |
| 5 | g.151259799G>T | CA447179848 | GM2A | c.126G>T (p.Gly42=) c.1G>T c.171G>T (p.Gly57=) | |
| 5 | g.151259800A= | CA1591312085 | GM2A | c.127A= (p.Lys43=) c.2A= c.172A= (p.Lys58=) | |
| 5 | g.151259800A>C | CA361805823 | GM2A | c.127A>C (p.Lys43Gln) c.2A>C c.172A>C (p.Lys58Gln) | |
| 5 | g.151259800A>G | CA361805825 | GM2A | c.127A>G (p.Lys43Glu) c.2A>G c.172A>G (p.Lys58Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259800A>T | CA361805824 | GM2A | c.127A>T (p.Lys43Ter) c.2A>T c.172A>T (p.Lys58Ter) | |
| 5 | g.151259801A>C | CA361805826 | GM2A | c.128A>C (p.Lys43Thr) c.3A>C c.173A>C (p.Lys58Thr) | |
| 5 | g.151259801A>G | CA361805827 | GM2A | c.128A>G (p.Lys43Arg) c.3A>G c.173A>G (p.Lys58Arg) | |
| 5 | g.151259801A>T | CA361805828 | GM2A | c.128A>T (p.Lys43Met) c.3A>T c.173A>T (p.Lys58Met) | |
| 5 | g.151259802G>A | CA447179849 | GM2A | c.129G>A (p.Lys43=) c.4G>A c.174G>A (p.Lys58=) | ClinVar dbSNP |
| 5 | g.151259802G>C | CA361805829 | GM2A | c.129G>C (p.Lys43Asn) c.4G>C c.174G>C (p.Lys58Asn) | |
| 5 | g.151259802G= | CA1591312086 | GM2A | c.129G= (p.Lys43=) c.4G= c.174G= (p.Lys58=) | |
| 5 | g.151259802G>T | CA361805830 | GM2A | c.129G>T (p.Lys43Asn) c.4G>T c.174G>T (p.Lys58Asn) | |
| 5 | g.151259803G>A | CA361805831 | GM2A | c.130G>A (p.Asp44Asn) c.5G>A c.175G>A (p.Asp59Asn) | |
| 5 | g.151259803G>C | CA361805832 | GM2A | c.130G>C (p.Asp44His) c.5G>C c.175G>C (p.Asp59His) | |
| 5 | g.151259803G>T | CA361805833 | GM2A | c.130G>T (p.Asp44Tyr) c.5G>T c.175G>T (p.Asp59Tyr) | gnomAD v4 |
| 5 | g.151259804A>C | CA361805834 | GM2A | c.131A>C (p.Asp44Ala) c.6A>C c.176A>C (p.Asp59Ala) | |
| 5 | g.151259804A>G | CA361805835 | GM2A | c.131A>G (p.Asp44Gly) c.6A>G c.176A>G (p.Asp59Gly) | |
| 5 | g.151259804A>T | CA361805836 | GM2A | c.131A>T (p.Asp44Val) c.6A>T c.176A>T (p.Asp59Val) | |
| 5 | g.151259805C>A | CA361805837 | GM2A | c.132C>A (p.Asp44Glu) c.7C>A c.177C>A (p.Asp59Glu) | |
| 5 | g.151259805C>G | CA361805838 | GM2A | c.132C>G (p.Asp44Glu) c.7C>G c.177C>G (p.Asp59Glu) | |
| 5 | g.151259805C>T | CA447179850 | GM2A | c.132C>T (p.Asp44=) c.7C>T c.177C>T (p.Asp59=) | |
| 5 | g.151259806C>A | CA3517875 | GM2A | c.133C>A (p.Pro45Thr) c.8C>A c.178C>A (p.Pro60Thr) | dbSNP ExAC gnomAD v2 |
| 5 | g.151259806C= | CA1591312087 | GM2A | c.133C= (p.Pro45=) c.8C= c.178C= (p.Pro60=) | |
| 5 | g.151259806C>G | CA361805840 | GM2A | c.133C>G (p.Pro45Ala) c.8C>G c.178C>G (p.Pro60Ala) | |
| 5 | g.151259806C>T | CA361805839 | GM2A | c.133C>T (p.Pro45Ser) c.8C>T c.178C>T (p.Pro60Ser) | |
| 5 | g.151259807C>A | CA361805841 | GM2A | c.134C>A (p.Pro45His) c.9C>A c.179C>A (p.Pro60His) | gnomAD v4 |
| 5 | g.151259807C>G | CA361805842 | GM2A | c.134C>G (p.Pro45Arg) c.9C>G c.179C>G (p.Pro60Arg) | |
| 5 | g.151259807C>T | CA361805843 | GM2A | c.134C>T (p.Pro45Leu) c.9C>T c.179C>T (p.Pro60Leu) | |
| 5 | g.151259808del | CA2676067221 | GM2A | c.135del (p.Ala46ArgfsTer2) c.10del c.180del (p.Ala61ArgfsTer2) | gnomAD v4 |
| 5 | g.151259808T>A | CA447179851 | GM2A | c.135T>A (p.Pro45=) c.10T>A c.180T>A (p.Pro60=) | |
| 5 | g.151259808T>C | CA447179852 | GM2A | c.135T>C (p.Pro45=) c.10T>C c.180T>C (p.Pro60=) | gnomAD v4 |
| 5 | g.151259808T>G | CA447179853 | GM2A | c.135T>G (p.Pro45=) c.10T>G c.180T>G (p.Pro60=) | |
| 5 | g.151259809G>A | CA361805844 | GM2A | c.136G>A (p.Ala46Thr) c.11G>A c.181G>A (p.Ala61Thr) | |
| 5 | g.151259809G>C | CA361805845 | GM2A | c.136G>C (p.Ala46Pro) c.11G>C c.181G>C (p.Ala61Pro) | |
| 5 | g.151259809G>T | CA361805846 | GM2A | c.136G>T (p.Ala46Ser) c.11G>T c.181G>T (p.Ala61Ser) | |
| 5 | g.151259810C>A | CA361805847 | GM2A | c.137C>A (p.Ala46Glu) c.12C>A c.182C>A (p.Ala61Glu) | ClinVar gnomAD v4 |
| 5 | g.151259810C= | CA1591312088 | GM2A | c.137C= (p.Ala46=) c.12C= c.182C= (p.Ala61=) | |
| 5 | g.151259810C>G | CA361805848 | GM2A | c.137C>G (p.Ala46Gly) c.12C>G c.182C>G (p.Ala61Gly) | gnomAD v4 |
| 5 | g.151259810C>T | CA3517876 | GM2A | c.137C>T (p.Ala46Val) c.12C>T c.182C>T (p.Ala61Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.151259811G>A | CA3517877 | GM2A | c.138G>A (p.Ala46=) c.13G>A c.183G>A (p.Ala61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259811G>C | CA447179854 | GM2A | c.138G>C (p.Ala46=) c.13G>C c.183G>C (p.Ala61=) | |
| 5 | g.151259811G= | CA1591312089 | GM2A | c.138G= (p.Ala46=) c.13G= c.183G= (p.Ala61=) | |
| 5 | g.151259811G>T | CA447179855 | GM2A | c.138G>T (p.Ala46=) c.13G>T c.183G>T (p.Ala61=) | |
| 5 | g.151259812G>A | CA361805850 | GM2A | c.139G>A (p.Val47Met) c.14G>A c.184G>A (p.Val62Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259812G>C | CA361805851 | GM2A | c.139G>C (p.Val47Leu) c.14G>C c.184G>C (p.Val62Leu) | |
| 5 | g.151259812G= | CA1591312090 | GM2A | c.139G= (p.Val47=) c.14G= c.184G= (p.Val62=) | |
| 5 | g.151259812G>T | CA361805849 | GM2A | c.139G>T (p.Val47Leu) c.14G>T c.184G>T (p.Val62Leu) | |
| 5 | g.151259813T>A | CA361805854 | GM2A | c.140T>A (p.Val47Glu) c.15T>A c.185T>A (p.Val62Glu) | |
| 5 | g.151259813T>C | CA361805852 | GM2A | c.140T>C (p.Val47Ala) c.15T>C c.185T>C (p.Val62Ala) | |
| 5 | g.151259813T>G | CA361805853 | GM2A | c.140T>G (p.Val47Gly) c.15T>G c.185T>G (p.Val62Gly) | |
| 5 | g.151259814G>A | CA447179856 | GM2A | c.141G>A (p.Val47=) c.16G>A c.186G>A (p.Val62=) | |
| 5 | g.151259814G>C | CA447179857 | GM2A | c.141G>C (p.Val47=) c.16G>C c.186G>C (p.Val62=) | |
| 5 | g.151259814G>T | CA447179858 | GM2A | c.141G>T (p.Val47=) c.16G>T c.186G>T (p.Val62=) | |
| 5 | g.151259815A= | CA1591312091 | GM2A | c.142A= (p.Ile48=) c.17A= c.187A= (p.Ile63=) | |
| 5 | g.151259815A>C | CA361805855 | GM2A | c.142A>C (p.Ile48Leu) c.17A>C c.187A>C (p.Ile63Leu) | |
| 5 | g.151259815A>G | CA361805856 | GM2A | c.142A>G (p.Ile48Val) c.17A>G c.187A>G (p.Ile63Val) | |
| 5 | g.151259815A>T | CA3517878 | GM2A | c.142A>T (p.Ile48Phe) c.17A>T c.187A>T (p.Ile63Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259816T>A | CA361805857 | GM2A | c.143T>A (p.Ile48Asn) c.18T>A c.188T>A (p.Ile63Asn) | gnomAD v4 |
| 5 | g.151259816T>C | CA361805858 | GM2A | c.143T>C (p.Ile48Thr) c.18T>C c.188T>C (p.Ile63Thr) | |
| 5 | g.151259816T>G | CA361805859 | GM2A | c.143T>G (p.Ile48Ser) c.18T>G c.188T>G (p.Ile63Ser) | |
| 5 | g.151259817C>A | CA447179860 | GM2A | c.144C>A (p.Ile48=) c.19C>A c.189C>A (p.Ile63=) | |
| 5 | g.151259817C>G | CA361805860 | GM2A | c.144C>G (p.Ile48Met) c.19C>G c.189C>G (p.Ile63Met) | |
| 5 | g.151259817C>T | CA447179859 | GM2A | c.144C>T (p.Ile48=) c.19C>T c.189C>T (p.Ile63=) | |
| 5 | g.151259818A>C | CA447179861 | GM2A | c.145A>C (p.Arg49=) c.20A>C c.190A>C (p.Arg64=) | |
| 5 | g.151259818A>G | CA361805861 | GM2A | c.145A>G (p.Arg49Gly) c.20A>G c.190A>G (p.Arg64Gly) | |
| 5 | g.151259818A>T | CA361805862 | GM2A | c.145A>T (p.Arg49Ter) c.20A>T c.190A>T (p.Arg64Ter) | |
| 5 | g.151259819G>A | CA361805863 | GM2A | c.146G>A (p.Arg49Lys) c.21G>A c.191G>A (p.Arg64Lys) | dbSNP |
| 5 | g.151259819G>C | CA361805864 | GM2A | c.146G>C (p.Arg49Thr) c.21G>C c.191G>C (p.Arg64Thr) | |
| 5 | g.151259819G= | CA1591312092 | GM2A | c.146G= (p.Arg49=) c.21G= c.191G= (p.Arg64=) | |
| 5 | g.151259819G>T | CA361805865 | GM2A | c.146G>T (p.Arg49Ile) c.21G>T c.191G>T (p.Arg64Ile) | |
| 5 | g.151259820A>C | CA361805866 | GM2A | c.147A>C (p.Arg49Ser) c.22A>C c.192A>C (p.Arg64Ser) | |
| 5 | g.151259820A>G | CA447179862 | GM2A | c.147A>G (p.Arg49=) c.22A>G c.192A>G (p.Arg64=) | |
| 5 | g.151259820A>T | CA361805867 | GM2A | c.147A>T (p.Arg49Ser) c.22A>T c.192A>T (p.Arg64Ser) | |
| 5 | g.151259821A>C | CA361805868 | GM2A | c.148A>C (p.Ser50Arg) c.23A>C c.193A>C (p.Ser65Arg) | gnomAD v4 |
| 5 | g.151259821A>G | CA361805869 | GM2A | c.148A>G (p.Ser50Gly) c.23A>G c.193A>G (p.Ser65Gly) | |
| 5 | g.151259821A>T | CA361805870 | GM2A | c.148A>T (p.Ser50Cys) c.23A>T c.193A>T (p.Ser65Cys) | |
| 5 | g.151259829_151259841del | CA2676067232 | GM2A | c.156_168del (p.Leu53ProfsTer8) c.31_43del c.201_213del (p.Leu68ProfsTer8) | gnomAD v4 |
| 5 | g.151259822G>A | CA3517879 | GM2A | c.149G>A (p.Ser50Asn) c.24G>A c.194G>A (p.Ser65Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259822G>C | CA361805871 | GM2A | c.149G>C (p.Ser50Thr) c.24G>C c.194G>C (p.Ser65Thr) | |
| 5 | g.151259822G= | CA1591312093 | GM2A | c.149G= (p.Ser50=) c.24G= c.194G= (p.Ser65=) | |
| 5 | g.151259822G>T | CA361805872 | GM2A | c.149G>T (p.Ser50Ile) c.24G>T c.194G>T (p.Ser65Ile) | gnomAD v4 |
| 5 | g.151259823C>A | CA361805873 | GM2A | c.150C>A (p.Ser50Arg) c.25C>A c.195C>A (p.Ser65Arg) | |
| 5 | g.151259823C>G | CA361805874 | GM2A | c.150C>G (p.Ser50Arg) c.25C>G c.195C>G (p.Ser65Arg) | |
| 5 | g.151259823C>T | CA447179863 | GM2A | c.150C>T (p.Ser50=) c.25C>T c.195C>T (p.Ser65=) | gnomAD v4 |
| 5 | g.151259824C>A | CA361805875 | GM2A | c.151C>A (p.Leu51Met) c.26C>A c.196C>A (p.Leu66Met) | |
| 5 | g.151259824C>G | CA361805876 | GM2A | c.151C>G (p.Leu51Val) c.26C>G c.196C>G (p.Leu66Val) | |
| 5 | g.151259824C>T | CA447179865 | GM2A | c.151C>T (p.Leu51=) c.26C>T c.196C>T (p.Leu66=) | gnomAD v4 |
| 5 | g.151259825T>A | CA361805877 | GM2A | c.152T>A (p.Leu51Gln) c.27T>A c.197T>A (p.Leu66Gln) | |
| 5 | g.151259825T>C | CA361805878 | GM2A | c.152T>C (p.Leu51Pro) c.27T>C c.197T>C (p.Leu66Pro) | |
| 5 | g.151259825T>G | CA361805879 | GM2A | c.152T>G (p.Leu51Arg) c.27T>G c.197T>G (p.Leu66Arg) | |
| 5 | g.151259826G>A | CA447179866 | GM2A | c.153G>A (p.Leu51=) c.28G>A c.198G>A (p.Leu66=) | |
| 5 | g.151259826G>C | CA3517880 | GM2A | c.153G>C (p.Leu51=) c.28G>C c.198G>C (p.Leu66=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259826G= | CA1591312094 | GM2A | c.153G= (p.Leu51=) c.28G= c.198G= (p.Leu66=) | |
| 5 | g.151259826G>T | CA447179867 | GM2A | c.153G>T (p.Leu51=) c.28G>T c.198G>T (p.Leu66=) | |
| 5 | g.151259827A>C | CA361805882 | GM2A | c.154A>C (p.Thr52Pro) c.29A>C c.199A>C (p.Thr67Pro) | |
| 5 | g.151259827A>G | CA361805880 | GM2A | c.154A>G (p.Thr52Ala) c.29A>G c.199A>G (p.Thr67Ala) | |
| 5 | g.151259827A>T | CA361805881 | GM2A | c.154A>T (p.Thr52Ser) c.29A>T c.199A>T (p.Thr67Ser) | gnomAD v4 |
| 5 | g.151259828C>A | CA361805883 | GM2A | c.155C>A (p.Thr52Asn) c.30C>A c.200C>A (p.Thr67Asn) | dbSNP |
| 5 | g.151259828C= | CA1591312095 | GM2A | c.155C= (p.Thr52=) c.30C= c.200C= (p.Thr67=) | |
| 5 | g.151259828C>G | CA361805884 | GM2A | c.155C>G (p.Thr52Ser) c.30C>G c.200C>G (p.Thr67Ser) | |
| 5 | g.151259828C>T | CA361805885 | GM2A | c.155C>T (p.Thr52Ile) c.30C>T c.200C>T (p.Thr67Ile) | |
| 5 | g.151259829T>A | CA447179868 | GM2A | c.156T>A (p.Thr52=) c.31T>A c.201T>A (p.Thr67=) | |
| 5 | g.151259829T>C | CA447179869 | GM2A | c.156T>C (p.Thr52=) c.31T>C c.201T>C (p.Thr67=) | |
| 5 | g.151259829T>G | CA447179870 | GM2A | c.156T>G (p.Thr52=) c.31T>G c.201T>G (p.Thr67=) | |
| 5 | g.151259830C>A | CA361805886 | GM2A | c.157C>A (p.Leu53Met) c.32C>A c.202C>A (p.Leu68Met) | |
| 5 | g.151259830C= | CA1591312096 | GM2A | c.157C= (p.Leu53=) c.32C= c.202C= (p.Leu68=) | |
| 5 | g.151259830C>G | CA361805887 | GM2A | c.157C>G (p.Leu53Val) c.32C>G c.202C>G (p.Leu68Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259830C>T | CA447179871 | GM2A | c.157C>T (p.Leu53=) c.32C>T c.202C>T (p.Leu68=) | dbSNP |
| 5 | g.151259831T>A | CA361805888 | GM2A | c.158T>A (p.Leu53Gln) c.33T>A c.203T>A (p.Leu68Gln) | |
| 5 | g.151259831T>C | CA361805889 | GM2A | c.158T>C (p.Leu53Pro) c.33T>C c.203T>C (p.Leu68Pro) | |
| 5 | g.151259831T>G | CA361805890 | GM2A | c.158T>G (p.Leu53Arg) c.33T>G c.203T>G (p.Leu68Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259831T= | CA1591312097 | GM2A | c.158T= (p.Leu53=) c.33T= c.203T= (p.Leu68=) | |
| 5 | g.151259832G>A | CA447179872 | GM2A | c.159G>A (p.Leu53=) c.34G>A c.204G>A (p.Leu68=) | |
| 5 | g.151259832G>C | CA447179873 | GM2A | c.159G>C (p.Leu53=) c.34G>C c.204G>C (p.Leu68=) | |
| 5 | g.151259832G>T | CA447179874 | GM2A | c.159G>T (p.Leu53=) c.34G>T c.204G>T (p.Leu68=) | |
| 5 | g.151259833G>A | CA361805891 | GM2A | c.160G>A (p.Glu54Lys) c.35G>A c.205G>A (p.Glu69Lys) | |
| 5 | g.151259833G>C | CA361805892 | GM2A | c.160G>C (p.Glu54Gln) c.35G>C c.205G>C (p.Glu69Gln) | |
| 5 | g.151259833G= | CA1591312098 | GM2A | c.160G= (p.Glu54=) c.35G= c.205G= (p.Glu69=) | |
| 5 | g.151259833G>T | CA114236 | GM2A | c.160G>T (p.Glu54Ter) c.35G>T c.205G>T (p.Glu69Ter) | ClinVar dbSNP |
| 5 | g.151259834A>C | CA361805894 | GM2A | c.161A>C (p.Glu54Ala) c.36A>C c.206A>C (p.Glu69Ala) | |
| 5 | g.151259834A>G | CA361805895 | GM2A | c.161A>G (p.Glu54Gly) c.36A>G c.206A>G (p.Glu69Gly) | |
| 5 | g.151259834A>T | CA361805893 | GM2A | c.161A>T (p.Glu54Val) c.36A>T c.206A>T (p.Glu69Val) | |
| 5 | g.151259835G>A | CA447179875 | GM2A | c.162G>A (p.Glu54=) c.37G>A c.207G>A (p.Glu69=) | gnomAD v4 |
| 5 | g.151259835G>C | CA361805896 | GM2A | c.162G>C (p.Glu54Asp) c.37G>C c.207G>C (p.Glu69Asp) | dbSNP gnomAD v4 |
| 5 | g.151259835G= | CA1591312099 | GM2A | c.162G= (p.Glu54=) c.37G= c.207G= (p.Glu69=) | |
| 5 | g.151259835G>T | CA361805897 | GM2A | c.162G>T (p.Glu54Asp) c.37G>T c.207G>T (p.Glu69Asp) | |
| 5 | g.151259836C>A | CA361805898 | GM2A | c.163C>A (p.Pro55Thr) c.38C>A c.208C>A (p.Pro70Thr) | gnomAD v4 |
| 5 | g.151259836C>G | CA361805899 | GM2A | c.163C>G (p.Pro55Ala) c.38C>G c.208C>G (p.Pro70Ala) | gnomAD v4 |
| 5 | g.151259836C>T | CA361805900 | GM2A | c.163C>T (p.Pro55Ser) c.38C>T c.208C>T (p.Pro70Ser) | gnomAD v4 |
| 5 | g.151259837C>A | CA361805902 | GM2A | c.164C>A (p.Pro55His) c.39C>A c.209C>A (p.Pro70His) | |
| 5 | g.151259837C= | CA1591312100 | GM2A | c.164C= (p.Pro55=) c.39C= c.209C= (p.Pro70=) | |
| 5 | g.151259837C>G | CA361805901 | GM2A | c.164C>G (p.Pro55Arg) c.39C>G c.209C>G (p.Pro70Arg) | dbSNP |
| 5 | g.151259837C>T | CA186039 | GM2A | c.164C>T (p.Pro55Leu) c.39C>T c.209C>T (p.Pro70Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259838T>A | CA447179877 | GM2A | c.165T>A (p.Pro55=) c.40T>A c.210T>A (p.Pro70=) | |
| 5 | g.151259838T>C | CA447179878 | GM2A | c.165T>C (p.Pro55=) c.40T>C c.210T>C (p.Pro70=) | |
| 5 | g.151259838T>G | CA447179876 | GM2A | c.165T>G (p.Pro55=) c.40T>G c.210T>G (p.Pro70=) | |
| 5 | g.151259839G>A | CA361805903 | GM2A | c.166G>A (p.Asp56Asn) c.41G>A c.211G>A (p.Asp71Asn) | |
| 5 | g.151259839G>C | CA361805904 | GM2A | c.166G>C (p.Asp56His) c.41G>C c.211G>C (p.Asp71His) | |
| 5 | g.151259839G>T | CA361805905 | GM2A | c.166G>T (p.Asp56Tyr) c.41G>T c.211G>T (p.Asp71Tyr) | |
| 5 | g.151259840A>C | CA361805906 | GM2A | c.167A>C (p.Asp56Ala) c.42A>C c.212A>C (p.Asp71Ala) | |
| 5 | g.151259840A>G | CA361805907 | GM2A | c.167A>G (p.Asp56Gly) c.42A>G c.212A>G (p.Asp71Gly) | |
| 5 | g.151259840A>T | CA361805908 | GM2A | c.167A>T (p.Asp56Val) c.42A>T c.212A>T (p.Asp71Val) | |
| 5 | g.151259841C>A | CA361805909 | GM2A | c.168C>A (p.Asp56Glu) c.43C>A c.213C>A (p.Asp71Glu) | gnomAD v4 |
| 5 | g.151259841C>G | CA361805910 | GM2A | c.168C>G (p.Asp56Glu) c.43C>G c.213C>G (p.Asp71Glu) | |
| 5 | g.151259841C>T | CA447179879 | GM2A | c.168C>T (p.Asp56=) c.43C>T c.213C>T (p.Asp71=) | gnomAD v4 |
| 5 | g.151259844del | CA2547721968 | GM2A | c.171del (p.Ile58SerfsTer7) c.46del c.216del (p.Ile73SerfsTer7) | |
| 5 | g.151259842C>A | CA361805911 | GM2A | c.169C>A (p.Pro57Thr) c.44C>A c.214C>A (p.Pro72Thr) | |
| 5 | g.151259842C>G | CA361805913 | GM2A | c.169C>G (p.Pro57Ala) c.44C>G c.214C>G (p.Pro72Ala) | gnomAD v4 |
| 5 | g.151259842C>T | CA361805912 | GM2A | c.169C>T (p.Pro57Ser) c.44C>T c.214C>T (p.Pro72Ser) | |
| 5 | g.151259843C>A | CA361805914 | GM2A | c.170C>A (p.Pro57His) c.45C>A c.215C>A (p.Pro72His) | |
| 5 | g.151259843C= | CA1591312101 | GM2A | c.170C= (p.Pro57=) c.45C= c.215C= (p.Pro72=) | |
| 5 | g.151259843C>G | CA361805916 | GM2A | c.170C>G (p.Pro57Arg) c.45C>G c.215C>G (p.Pro72Arg) | dbSNP gnomAD v4 |
| 5 | g.151259843C>T | CA361805915 | GM2A | c.170C>T (p.Pro57Leu) c.45C>T c.215C>T (p.Pro72Leu) | |
| 5 | g.151259844C>A | CA447179882 | GM2A | c.171C>A (p.Pro57=) c.46C>A c.216C>A (p.Pro72=) | |
| 5 | g.151259844C>G | CA447179881 | GM2A | c.171C>G (p.Pro57=) c.46C>G c.216C>G (p.Pro72=) | gnomAD v4 |
| 5 | g.151259844C>T | CA447179880 | GM2A | c.171C>T (p.Pro57=) c.46C>T c.216C>T (p.Pro72=) | |
| 5 | g.151259845A= | CA1591312102 | GM2A | c.172A= (p.Ile58=) c.47A= c.217A= (p.Ile73=) | |
| 5 | g.151259845A>C | CA361805917 | GM2A | c.172A>C (p.Ile58Leu) c.47A>C c.217A>C (p.Ile73Leu) | |
| 5 | g.151259845A>G | CA3517881 | GM2A | c.172A>G (p.Ile58Val) c.47A>G c.217A>G (p.Ile73Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259845A>T | CA361805918 | GM2A | c.172A>T (p.Ile58Phe) c.47A>T c.217A>T (p.Ile73Phe) | ClinVar dbSNP |