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.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 |
| 5 | g.151259846T>A | CA361805919 | GM2A | c.173T>A (p.Ile58Asn) c.48T>A c.218T>A (p.Ile73Asn) | |
| 5 | g.151259846T>C | CA3517882 | GM2A | c.173T>C (p.Ile58Thr) c.48T>C c.218T>C (p.Ile73Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259846T>G | CA361805920 | GM2A | c.173T>G (p.Ile58Ser) c.48T>G c.218T>G (p.Ile73Ser) | gnomAD v4 |
| 5 | g.151259846T= | CA1591312103 | GM2A | c.173T= (p.Ile58=) c.48T= c.218T= (p.Ile73=) | |
| 5 | g.151259847C>A | CA447179883 | GM2A | c.174C>A (p.Ile58=) c.49C>A c.219C>A (p.Ile73=) | |
| 5 | g.151259847C= | CA1591312104 | GM2A | c.174C= (p.Ile58=) c.49C= c.219C= (p.Ile73=) | |
| 5 | g.151259847C>G | CA361805921 | GM2A | c.174C>G (p.Ile58Met) c.49C>G c.219C>G (p.Ile73Met) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259847C>T | CA3517883 | GM2A | c.174C>T (p.Ile58=) c.49C>T c.219C>T (p.Ile73=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259848A= | CA1591312105 | GM2A | c.175A= (p.Ile59=) c.50A= c.220A= (p.Ile74=) | |
| 5 | g.151259848A>C | CA361805922 | GM2A | c.175A>C (p.Ile59Leu) c.50A>C c.220A>C (p.Ile74Leu) | |
| 5 | g.151259848A>G | CA180085 | GM2A | c.175A>G (p.Ile59Val) c.50A>G c.220A>G (p.Ile74Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259848A>T | CA361805923 | GM2A | c.175A>T (p.Ile59Phe) c.50A>T c.220A>T (p.Ile74Phe) | |
| 5 | g.151259848_151259849insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG | CA1082939611 | GM2A | c.175_176insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG (p.Ile59LysfsTer24) c.50_51insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG c.220_221insAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCACATCG (p.Ile74LysfsTer24) | gnomAD v3 gnomAD v4 |
| 5 | g.151259849T>A | CA361805925 | GM2A | c.176T>A (p.Ile59Asn) c.51T>A c.221T>A (p.Ile74Asn) | |
| 5 | g.151259849T>C | CA3517884 | GM2A | c.176T>C (p.Ile59Thr) c.51T>C c.221T>C (p.Ile74Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259849T>G | CA361805924 | GM2A | c.176T>G (p.Ile59Ser) c.51T>G c.221T>G (p.Ile74Ser) | |
| 5 | g.151259849T= | CA1591312106 | GM2A | c.176T= (p.Ile59=) c.51T= c.221T= (p.Ile74=) | |
| 5 | g.151259850C>A | CA447179884 | GM2A | c.177C>A (p.Ile59=) c.52C>A c.222C>A (p.Ile74=) | |
| 5 | g.151259850C= | CA1591312107 | GM2A | c.177C= (p.Ile59=) c.52C= c.222C= (p.Ile74=) | |
| 5 | g.151259850C>G | CA361805926 | GM2A | c.177C>G (p.Ile59Met) c.52C>G c.222C>G (p.Ile74Met) | |
| 5 | g.151259850C>T | CA3517885 | GM2A | c.177C>T (p.Ile59=) c.52C>T c.222C>T (p.Ile74=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.151259851G>A | CA3517886 | GM2A | c.178G>A (p.Val60Ile) c.53G>A c.223G>A (p.Val75Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259851G>C | CA361805927 | GM2A | c.178G>C (p.Val60Leu) c.53G>C c.223G>C (p.Val75Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.151259851G= | CA1591312108 | GM2A | c.178G= (p.Val60=) c.53G= c.223G= (p.Val75=) | |
| 5 | g.151259851G>T | CA3517887 | GM2A | c.178G>T (p.Val60Phe) c.53G>T c.223G>T (p.Val75Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259852T>A | CA129894989 | GM2A | c.179T>A (p.Val60Asp) c.54T>A c.224T>A (p.Val75Asp) | dbSNP gnomAD v4 |
| 5 | g.151259852T>C | CA361805928 | GM2A | c.179T>C (p.Val60Ala) c.54T>C c.224T>C (p.Val75Ala) | gnomAD v4 |
| 5 | g.151259852T>G | CA361805929 | GM2A | c.179T>G (p.Val60Gly) c.54T>G c.224T>G (p.Val75Gly) | |
| 5 | g.151259852T= | CA1591312109 | GM2A | c.179T= (p.Val60=) c.54T= c.224T= (p.Val75=) | |
| 5 | g.151259853T>A | CA447179885 | GM2A | c.180T>A (p.Val60=) c.55T>A c.225T>A (p.Val75=) | |
| 5 | g.151259853T>C | CA447179886 | GM2A | c.180T>C (p.Val60=) c.55T>C c.225T>C (p.Val75=) | |
| 5 | g.151259853T>G | CA447179887 | GM2A | c.180T>G (p.Val60=) c.55T>G c.225T>G (p.Val75=) | |
| 5 | g.151259854C>A | CA361805930 | GM2A | c.181C>A (p.Pro61Thr) c.56C>A c.226C>A (p.Pro76Thr) | gnomAD v4 |
| 5 | g.151259854C= | CA1591312110 | GM2A | c.181C= (p.Pro61=) c.56C= c.226C= (p.Pro76=) | |
| 5 | g.151259854C>G | CA361805931 | GM2A | c.181C>G (p.Pro61Ala) c.56C>G c.226C>G (p.Pro76Ala) | |
| 5 | g.151259854C>T | CA361805932 | GM2A | c.181C>T (p.Pro61Ser) c.56C>T c.226C>T (p.Pro76Ser) | dbSNP gnomAD v4 |
| 5 | g.151259855C>A | CA361805934 | GM2A | c.182C>A (p.Pro61His) c.57C>A c.227C>A (p.Pro76His) | |
| 5 | g.151259855C= | CA1591312111 | GM2A | c.182C= (p.Pro61=) c.57C= c.227C= (p.Pro76=) | |
| 5 | g.151259855C>G | CA3517888 | GM2A | c.182C>G (p.Pro61Arg) c.57C>G c.227C>G (p.Pro76Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259855C>T | CA361805933 | GM2A | c.182C>T (p.Pro61Leu) c.57C>T c.227C>T (p.Pro76Leu) | |
| 5 | g.151259856T>A | CA447179888 | GM2A | c.183T>A (p.Pro61=) c.58T>A c.228T>A (p.Pro76=) | |
| 5 | g.151259856T>C | CA447179889 | GM2A | c.183T>C (p.Pro61=) c.58T>C c.228T>C (p.Pro76=) | |
| 5 | g.151259856T>G | CA447179890 | GM2A | c.183T>G (p.Pro61=) c.58T>G c.228T>G (p.Pro76=) | |
| 5 | g.151259857G>A | CA361805935 | GM2A | c.184G>A (p.Gly62Arg) c.59G>A c.229G>A (p.Gly77Arg) | ClinVar |
| 5 | g.151259857G>C | CA361805936 | GM2A | c.184G>C (p.Gly62Arg) c.59G>C c.229G>C (p.Gly77Arg) | |
| 5 | g.151259857G>T | CA361805937 | GM2A | c.184G>T (p.Gly62Ter) c.59G>T c.229G>T (p.Gly77Ter) | |
| 5 | g.151259858G>A | CA361805938 | GM2A | c.185G>A (p.Gly62Glu) c.60G>A c.230G>A (p.Gly77Glu) | |
| 5 | g.151259858G>C | CA361805939 | GM2A | c.185G>C (p.Gly62Ala) c.60G>C c.230G>C (p.Gly77Ala) | |
| 5 | g.151259858G>T | CA361805940 | GM2A | c.185G>T (p.Gly62Val) c.60G>T c.230G>T (p.Gly77Val) | |
| 5 | g.151259859A>C | CA447179892 | GM2A | c.186A>C (p.Gly62=) c.61A>C c.231A>C (p.Gly77=) | |
| 5 | g.151259859A>G | CA447179893 | GM2A | c.186A>G (p.Gly62=) c.61A>G c.231A>G (p.Gly77=) | dbSNP |
| 5 | g.151259859A>T | CA447179894 | GM2A | c.186A>T (p.Gly62=) c.61A>T c.231A>T (p.Gly77=) | |
| 5 | g.151259860A>C | CA361805941 | GM2A | c.187A>C (p.Asn63His) c.62A>C c.232A>C (p.Asn78His) | |
| 5 | g.151259860A>G | CA361805942 | GM2A | c.187A>G (p.Asn63Asp) c.62A>G c.232A>G (p.Asn78Asp) | |
| 5 | g.151259860A>T | CA361805943 | GM2A | c.187A>T (p.Asn63Tyr) c.62A>T c.232A>T (p.Asn78Tyr) | |
| 5 | g.151259861A>C | CA361805944 | GM2A | c.188A>C (p.Asn63Thr) c.63A>C c.233A>C (p.Asn78Thr) | |
| 5 | g.151259861A>G | CA361805945 | GM2A | c.188A>G (p.Asn63Ser) c.63A>G c.233A>G (p.Asn78Ser) | |
| 5 | g.151259861A>T | CA361805946 | GM2A | c.188A>T (p.Asn63Ile) c.63A>T c.233A>T (p.Asn78Ile) | |
| 5 | g.151259862T>A | CA361805948 | GM2A | c.189T>A (p.Asn63Lys) c.64T>A c.234T>A (p.Asn78Lys) | |
| 5 | g.151259862T>C | CA447179895 | GM2A | c.189T>C (p.Asn63=) c.64T>C c.234T>C (p.Asn78=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259862T>G | CA361805947 | GM2A | c.189T>G (p.Asn63Lys) c.64T>G c.234T>G (p.Asn78Lys) | |
| 5 | g.151259862T= | CA1591312112 | GM2A | c.189T= (p.Asn63=) c.64T= c.234T= (p.Asn78=) | |
| 5 | g.151259863G>A | CA361805949 | GM2A | c.190G>A (p.Val64Met) c.65G>A c.235G>A (p.Val79Met) | |
| 5 | g.151259863G>C | CA361805950 | GM2A | c.190G>C (p.Val64Leu) c.65G>C c.235G>C (p.Val79Leu) | |
| 5 | g.151259863G>T | CA361805951 | GM2A | c.190G>T (p.Val64Leu) c.65G>T c.235G>T (p.Val79Leu) | |
| 5 | g.151259864T>A | CA361805952 | GM2A | c.191T>A (p.Val64Glu) c.66T>A c.236T>A (p.Val79Glu) | |
| 5 | g.151259864T>C | CA361805953 | GM2A | c.191T>C (p.Val64Ala) c.66T>C c.236T>C (p.Val79Ala) | |
| 5 | g.151259864T>G | CA361805954 | GM2A | c.191T>G (p.Val64Gly) c.66T>G c.236T>G (p.Val79Gly) | |
| 5 | g.151259864_151259866dup | CA2676067255 | GM2A | c.191_193dup (p.Val64_Thr65insMet) c.66_68dup c.236_238dup (p.Val79_Thr80insMet) | gnomAD v4 |
| 5 | g.151259865G>A | CA447179896 | GM2A | c.192G>A (p.Val64=) c.67G>A c.237G>A (p.Val79=) | gnomAD v4 |
| 5 | g.151259865G>C | CA447179897 | GM2A | c.192G>C (p.Val64=) c.67G>C c.237G>C (p.Val79=) | |
| 5 | g.151259865G>T | CA447179898 | GM2A | c.192G>T (p.Val64=) c.67G>T c.237G>T (p.Val79=) | |
| 5 | g.151259866A>C | CA361805955 | GM2A | c.193A>C (p.Thr65Pro) c.68A>C c.238A>C (p.Thr80Pro) | |
| 5 | g.151259866A>G | CA361805956 | GM2A | c.193A>G (p.Thr65Ala) c.68A>G c.238A>G (p.Thr80Ala) | |
| 5 | g.151259866A>T | CA361805957 | GM2A | c.193A>T (p.Thr65Ser) c.68A>T c.238A>T (p.Thr80Ser) | |
| 5 | g.151259867C>A | CA361805958 | GM2A | c.194C>A (p.Thr65Asn) c.69C>A c.239C>A (p.Thr80Asn) | |
| 5 | g.151259867C>G | CA361805959 | GM2A | c.194C>G (p.Thr65Ser) c.69C>G c.239C>G (p.Thr80Ser) | |
| 5 | g.151259867C>T | CA361805960 | GM2A | c.194C>T (p.Thr65Ile) c.69C>T c.239C>T (p.Thr80Ile) | |
| 5 | g.151259868C>A | CA3517889 | GM2A | c.195C>A (p.Thr65=) c.70C>A c.240C>A (p.Thr80=) | dbSNP ExAC gnomAD v2 |
| 5 | g.151259868C= | CA1591312113 | GM2A | c.195C= (p.Thr65=) c.70C= c.240C= (p.Thr80=) | |
| 5 | g.151259868C>G | CA447179900 | GM2A | c.195C>G (p.Thr65=) c.70C>G c.240C>G (p.Thr80=) | |
| 5 | g.151259868C>T | CA447179899 | GM2A | c.195C>T (p.Thr65=) c.70C>T c.240C>T (p.Thr80=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259869C>A | CA361805963 | GM2A | c.196C>A (p.Leu66Ile) c.71C>A c.241C>A (p.Leu81Ile) | |
| 5 | g.151259869C= | CA1591312114 | GM2A | c.196C= (p.Leu66=) c.71C= c.241C= (p.Leu81=) | |
| 5 | g.151259869C>G | CA361805962 | GM2A | c.196C>G (p.Leu66Val) c.71C>G c.241C>G (p.Leu81Val) | dbSNP |
| 5 | g.151259869C>T | CA361805961 | GM2A | c.196C>T (p.Leu66Phe) c.71C>T c.241C>T (p.Leu81Phe) | |
| 5 | g.151259870T>A | CA361805965 | GM2A | c.197T>A (p.Leu66His) c.72T>A c.242T>A (p.Leu81His) | |
| 5 | g.151259870T>C | CA361805964 | GM2A | c.197T>C (p.Leu66Pro) c.72T>C c.242T>C (p.Leu81Pro) | gnomAD v4 |
| 5 | g.151259870T>G | CA361805966 | GM2A | c.197T>G (p.Leu66Arg) c.72T>G c.242T>G (p.Leu81Arg) | |
| 5 | g.151259871C>A | CA447179902 | GM2A | c.198C>A (p.Leu66=) c.73C>A c.243C>A (p.Leu81=) | |
| 5 | g.151259871C>G | CA447179903 | GM2A | c.198C>G (p.Leu66=) c.73C>G c.243C>G (p.Leu81=) | |
| 5 | g.151259871C>T | CA447179904 | GM2A | c.198C>T (p.Leu66=) c.73C>T c.243C>T (p.Leu81=) | |
| 5 | g.151259872A>C | CA361805967 | GM2A | c.199A>C (p.Ser67Arg) c.74A>C c.244A>C (p.Ser82Arg) | |
| 5 | g.151259872A>G | CA361805968 | GM2A | c.199A>G (p.Ser67Gly) c.74A>G c.244A>G (p.Ser82Gly) | |
| 5 | g.151259872A>T | CA361805969 | GM2A | c.199A>T (p.Ser67Cys) c.74A>T c.244A>T (p.Ser82Cys) | |
| 5 | g.151259873G>A | CA361805970 | GM2A | c.200G>A (p.Ser67Asn) c.75G>A c.245G>A (p.Ser82Asn) | |
| 5 | g.151259873G>C | CA361805971 | GM2A | c.200G>C (p.Ser67Thr) c.75G>C c.245G>C (p.Ser82Thr) | |
| 5 | g.151259873G>T | CA361805972 | GM2A | c.200G>T (p.Ser67Ile) c.75G>T c.245G>T (p.Ser82Ile) | |
| 5 | g.151259874T>A | CA361805973 | GM2A | c.201T>A (p.Ser67Arg) c.76T>A c.246T>A (p.Ser82Arg) | |
| 5 | g.151259874T>C | CA447179906 | GM2A | c.201T>C (p.Ser67=) c.76T>C c.246T>C (p.Ser82=) | |
| 5 | g.151259874T>G | CA361805974 | GM2A | c.201T>G (p.Ser67Arg) c.76T>G c.246T>G (p.Ser82Arg) | |
| 5 | g.151259875G>A | CA361805975 | GM2A | c.202G>A (p.Val68Ile) c.77G>A c.247G>A (p.Val83Ile) | |
| 5 | g.151259875G>C | CA361805976 | GM2A | c.202G>C (p.Val68Leu) c.77G>C c.247G>C (p.Val83Leu) | |
| 5 | g.151259875G>T | CA361805977 | GM2A | c.202G>T (p.Val68Phe) c.77G>T c.247G>T (p.Val83Phe) | |
| 5 | g.151259876T>A | CA361805978 | GM2A | c.203T>A (p.Val68Asp) c.78T>A c.248T>A (p.Val83Asp) | |
| 5 | g.151259876T>C | CA129894996 | GM2A | c.203T>C (p.Val68Ala) c.78T>C c.248T>C (p.Val83Ala) | ClinVar dbSNP |
| 5 | g.151259876T>G | CA361805979 | GM2A | c.203T>G (p.Val68Gly) c.78T>G c.248T>G (p.Val83Gly) | |
| 5 | g.151259876T= | CA1591312115 | GM2A | c.203T= (p.Val68=) c.78T= c.248T= (p.Val83=) | |
| 5 | g.151259877C>A | CA3517890 | GM2A | c.204C>A (p.Val68=) c.79C>A c.249C>A (p.Val83=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259877C= | CA1591312116 | GM2A | c.204C= (p.Val68=) c.79C= c.249C= (p.Val83=) | |
| 5 | g.151259877C>G | CA447179910 | GM2A | c.204C>G (p.Val68=) c.79C>G c.249C>G (p.Val83=) | |
| 5 | g.151259877C>T | CA447179911 | GM2A | c.204C>T (p.Val68=) c.79C>T c.249C>T (p.Val83=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259877_151259878delinsTG | CA2580073923 | GM2A | c.204_205delinsTG (p.Met69Val) c.79_80delinsTG c.249_250delinsTG (p.Met84Val) | ClinVar |
| 5 | g.151259878A= | CA1591312117 | GM2A | c.205A= (p.Met69=) c.80A= c.250A= (p.Met84=) | |
| 5 | g.151259878A>C | CA361805980 | GM2A | c.205A>C (p.Met69Leu) c.80A>C c.250A>C (p.Met84Leu) | |
| 5 | g.151259878A>G | CA180087 | GM2A | c.205A>G (p.Met69Val) c.80A>G c.250A>G (p.Met84Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259878A>T | CA361805981 | GM2A | c.205A>T (p.Met69Leu) c.80A>T c.250A>T (p.Met84Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259878_151259879delinsGC | CA2580073924 | GM2A | c.205_206delinsGC (p.Met69Ala) c.80_81delinsGC c.250_251delinsGC (p.Met84Ala) | ClinVar |
| 5 | g.151259879T>A | CA361805982 | GM2A | c.206T>A (p.Met69Lys) c.81T>A c.251T>A (p.Met84Lys) | |
| 5 | g.151259879T>C | CA3517891 | GM2A | c.206T>C (p.Met69Thr) c.81T>C c.251T>C (p.Met84Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259879T>G | CA361805983 | GM2A | c.206T>G (p.Met69Arg) c.81T>G c.251T>G (p.Met84Arg) | |
| 5 | g.151259879T= | CA1591312118 | GM2A | c.206T= (p.Met69=) c.81T= c.251T= (p.Met84=) | |
| 5 | g.151259880G>A | CA361805984 | GM2A | c.207G>A (p.Met69Ile) c.82G>A c.252G>A (p.Met84Ile) | ClinVar dbSNP |
| 5 | g.151259880G>C | CA361805985 | GM2A | c.207G>C (p.Met69Ile) c.82G>C c.252G>C (p.Met84Ile) | ClinVar |
| 5 | g.151259880G>T | CA361805986 | GM2A | c.207G>T (p.Met69Ile) c.82G>T c.252G>T (p.Met84Ile) | |
| 5 | g.151259882del | CA2573131734 | GM2A | c.209del (p.Gly70AlafsTer7) c.84del c.254del (p.Gly85AlafsTer7) | ClinVar dbSNP |
| 5 | g.151259881G>A | CA361805987 | GM2A | c.208G>A (p.Gly70Ser) c.83G>A c.253G>A (p.Gly85Ser) | gnomAD v4 |
| 5 | g.151259881G>C | CA361805988 | GM2A | c.208G>C (p.Gly70Arg) c.83G>C c.253G>C (p.Gly85Arg) | dbSNP |
| 5 | g.151259881G= | CA1591312119 | GM2A | c.208G= (p.Gly70=) c.83G= c.253G= (p.Gly85=) | |
| 5 | g.151259881G>T | CA361805989 | GM2A | c.208G>T (p.Gly70Cys) c.83G>T c.253G>T (p.Gly85Cys) | |
| 5 | g.151259882G>A | CA361805992 | GM2A | c.209G>A (p.Gly70Asp) c.84G>A c.254G>A (p.Gly85Asp) | |
| 5 | g.151259882G>C | CA361805991 | GM2A | c.209G>C (p.Gly70Ala) c.84G>C c.254G>C (p.Gly85Ala) | |
| 5 | g.151259882G>T | CA361805990 | GM2A | c.209G>T (p.Gly70Val) c.84G>T c.254G>T (p.Gly85Val) | |
| 5 | g.151259883C>A | CA447179917 | GM2A | c.210C>A (p.Gly70=) c.85C>A c.255C>A (p.Gly85=) | |
| 5 | g.151259883C= | CA1591312120 | GM2A | c.210C= (p.Gly70=) c.85C= c.255C= (p.Gly85=) | |
| 5 | g.151259883C>G | CA447179916 | GM2A | c.210C>G (p.Gly70=) c.85C>G c.255C>G (p.Gly85=) | |
| 5 | g.151259883C>T | CA447179918 | GM2A | c.210C>T (p.Gly70=) c.85C>T c.255C>T (p.Gly85=) | dbSNP gnomAD v4 |
| 5 | g.151259884A= | CA1591312121 | GM2A | c.211A= (p.Ser71=) c.86A= c.256A= (p.Ser86=) | |
| 5 | g.151259884A>C | CA361805993 | GM2A | c.211A>C (p.Ser71Arg) c.86A>C c.256A>C (p.Ser86Arg) | |
| 5 | g.151259884A>G | CA361805994 | GM2A | c.211A>G (p.Ser71Gly) c.86A>G c.256A>G (p.Ser86Gly) | dbSNP gnomAD v4 |
| 5 | g.151259884A>T | CA361805995 | GM2A | c.211A>T (p.Ser71Cys) c.86A>T c.256A>T (p.Ser86Cys) | |
| 5 | g.151259885G>A | CA361805996 | GM2A | c.212G>A (p.Ser71Asn) c.87G>A c.257G>A (p.Ser86Asn) | |
| 5 | g.151259885G>C | CA361805997 | GM2A | c.212G>C (p.Ser71Thr) c.87G>C c.257G>C (p.Ser86Thr) | |
| 5 | g.151259885G>T | CA361805998 | GM2A | c.212G>T (p.Ser71Ile) c.87G>T c.257G>T (p.Ser86Ile) | |
| 5 | g.151259886C>A | CA361806000 | GM2A | c.213C>A (p.Ser71Arg) c.88C>A c.258C>A (p.Ser86Arg) | |
| 5 | g.151259886C>G | CA361805999 | GM2A | c.213C>G (p.Ser71Arg) c.88C>G c.258C>G (p.Ser86Arg) | |
| 5 | g.151259886C>T | CA447179923 | GM2A | c.213C>T (p.Ser71=) c.88C>T c.258C>T (p.Ser86=) | |
| 5 | g.151259887A= | CA1591312122 | GM2A | c.214A= (p.Thr72=) c.89A= c.259A= (p.Thr87=) | |
| 5 | g.151259887A>C | CA361806001 | GM2A | c.214A>C (p.Thr72Pro) c.89A>C c.259A>C (p.Thr87Pro) | |
| 5 | g.151259887A>G | CA361806002 | GM2A | c.214A>G (p.Thr72Ala) c.89A>G c.259A>G (p.Thr87Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259887A>T | CA361806003 | GM2A | c.214A>T (p.Thr72Ser) c.89A>T c.259A>T (p.Thr87Ser) | dbSNP |
| 5 | g.151259888C>A | CA361806004 | GM2A | c.215C>A (p.Thr72Asn) c.90C>A c.260C>A (p.Thr87Asn) | |
| 5 | g.151259888C>G | CA361806005 | GM2A | c.215C>G (p.Thr72Ser) c.90C>G c.260C>G (p.Thr87Ser) | |
| 5 | g.151259888C>T | CA361806006 | GM2A | c.215C>T (p.Thr72Ile) c.90C>T c.260C>T (p.Thr87Ile) | |
| 5 | g.151259889C>A | CA447179924 | GM2A | c.216C>A (p.Thr72=) c.91C>A c.261C>A (p.Thr87=) | |
| 5 | g.151259889C= | CA1591312123 | GM2A | c.216C= (p.Thr72=) c.91C= c.261C= (p.Thr87=) | |
| 5 | g.151259889C>G | CA447179926 | GM2A | c.216C>G (p.Thr72=) c.91C>G c.261C>G (p.Thr87=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259889C>T | CA447179927 | GM2A | c.216C>T (p.Thr72=) c.91C>T c.261C>T (p.Thr87=) | gnomAD v4 |
| 5 | g.151259890A= | CA1591312124 | GM2A | c.217A= (p.Ser73=) c.92A= c.262A= (p.Ser88=) | |
| 5 | g.151259890A>C | CA361806007 | GM2A | c.217A>C (p.Ser73Arg) c.92A>C c.262A>C (p.Ser88Arg) | |
| 5 | g.151259890A>G | CA361806009 | GM2A | c.217A>G (p.Ser73Gly) c.92A>G c.262A>G (p.Ser88Gly) | |
| 5 | g.151259890A>T | CA361806008 | GM2A | c.217A>T (p.Ser73Cys) c.92A>T c.262A>T (p.Ser88Cys) | |
| 5 | g.151259890_151259891insC | CA563957683 | GM2A | c.217_218insC (p.Ser73ThrfsTer?) c.92_93insC c.262_263insC (p.Ser88ThrfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259891G>A | CA361806010 | GM2A | c.218G>A (p.Ser73Asn) c.93G>A c.263G>A (p.Ser88Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259891G>C | CA361806011 | GM2A | c.218G>C (p.Ser73Thr) c.93G>C c.263G>C (p.Ser88Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259891G= | CA1591312125 | GM2A | c.218G= (p.Ser73=) c.93G= c.263G= (p.Ser88=) | |
| 5 | g.151259891G>T | CA361806012 | GM2A | c.218G>T (p.Ser73Ile) c.93G>T c.263G>T (p.Ser88Ile) | |
| 5 | g.151259892T>A | CA361806013 | GM2A | c.219T>A (p.Ser73Arg) c.94T>A c.264T>A (p.Ser88Arg) | |
| 5 | g.151259892T>C | CA447179931 | GM2A | c.219T>C (p.Ser73=) c.94T>C c.264T>C (p.Ser88=) | dbSNP |
| 5 | g.151259892T>G | CA361806014 | GM2A | c.219T>G (p.Ser73Arg) c.94T>G c.264T>G (p.Ser88Arg) | |
| 5 | g.151259892T= | CA1591312126 | GM2A | c.219T= (p.Ser73=) c.94T= c.264T= (p.Ser88=) | |
| 5 | g.151259893G>A | CA361806015 | GM2A | c.220G>A (p.Val74Ile) c.95G>A c.265G>A (p.Val89Ile) | dbSNP gnomAD v4 COSMIC |
| 5 | g.151259893G>C | CA361806016 | GM2A | c.220G>C (p.Val74Leu) c.95G>C c.265G>C (p.Val89Leu) | |
| 5 | g.151259893G= | CA1591312127 | GM2A | c.220G= (p.Val74=) c.95G= c.265G= (p.Val89=) | |
| 5 | g.151259893G>T | CA361806017 | GM2A | c.220G>T (p.Val74Phe) c.95G>T c.265G>T (p.Val89Phe) | |
| 5 | g.151259894T>A | CA361806018 | GM2A | c.221T>A (p.Val74Asp) c.96T>A c.266T>A (p.Val89Asp) | |
| 5 | g.151259894T>C | CA361806019 | GM2A | c.221T>C (p.Val74Ala) c.96T>C c.266T>C (p.Val89Ala) | |
| 5 | g.151259894T>G | CA361806020 | GM2A | c.221T>G (p.Val74Gly) c.96T>G c.266T>G (p.Val89Gly) | |
| 5 | g.151259895C>A | CA447179934 | GM2A | c.222C>A (p.Val74=) c.97C>A c.267C>A (p.Val89=) | gnomAD v4 |
| 5 | g.151259895C= | CA1591312128 | GM2A | c.222C= (p.Val74=) c.97C= c.267C= (p.Val89=) | |
| 5 | g.151259895C>G | CA447179935 | GM2A | c.222C>G (p.Val74=) c.97C>G c.267C>G (p.Val89=) | |
| 5 | g.151259895C>T | CA3517892 | GM2A | c.222C>T (p.Val74=) c.97C>T c.267C>T (p.Val89=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259899dup | CA2676067272 | GM2A | c.226dup (p.Leu76ProfsTer?) c.101dup c.271dup (p.Leu91ProfsTer?) | gnomAD v4 |
| 5 | g.151259896C>A | CA361806022 | GM2A | c.223C>A (p.Pro75Thr) c.98C>A c.268C>A (p.Pro90Thr) | |
| 5 | g.151259896C>G | CA361806023 | GM2A | c.223C>G (p.Pro75Ala) c.98C>G c.268C>G (p.Pro90Ala) | |
| 5 | g.151259896C>T | CA361806021 | GM2A | c.223C>T (p.Pro75Ser) c.98C>T c.268C>T (p.Pro90Ser) | |
| 5 | g.151259897C>A | CA361806024 | GM2A | c.224C>A (p.Pro75His) c.99C>A c.269C>A (p.Pro90His) | |
| 5 | g.151259897C>G | CA361806026 | GM2A | c.224C>G (p.Pro75Arg) c.99C>G c.269C>G (p.Pro90Arg) | |
| 5 | g.151259897C>T | CA361806025 | GM2A | c.224C>T (p.Pro75Leu) c.99C>T c.269C>T (p.Pro90Leu) | |
| 5 | g.151259898C>A | CA447179941 | GM2A | c.225C>A (p.Pro75=) c.100C>A c.270C>A (p.Pro90=) | |
| 5 | g.151259898C>G | CA447179940 | GM2A | c.225C>G (p.Pro75=) c.100C>G c.270C>G (p.Pro90=) | |
| 5 | g.151259898C>T | CA447179938 | GM2A | c.225C>T (p.Pro75=) c.100C>T c.270C>T (p.Pro90=) | |
| 5 | g.151259898_151259900delinsCCT | CA1591312129 | GM2A | c.225_227delinsCCT (p.Pro75=) c.100_102delinsCCT c.270_272delinsCCT (p.Pro90=) | |
| 5 | g.151259899C>A | CA3517893 | GM2A | c.226C>A (p.Leu76Met) c.101C>A c.271C>A (p.Leu91Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259899C= | CA1591312131 | GM2A | c.226C= (p.Leu76=) c.101C= c.271C= (p.Leu91=) | |
| 5 | g.151259899C>G | CA361806027 | GM2A | c.226C>G (p.Leu76Val) c.101C>G c.271C>G (p.Leu91Val) | |
| 5 | g.151259899C>T | CA447179942 | GM2A | c.226C>T (p.Leu76=) c.101C>T c.271C>T (p.Leu91=) | |
| 5 | g.151259899_151259900del | CA1591312130 | GM2A | c.226_227del (p.Leu76GlufsTer?) c.101_102del c.271_272del (p.Leu91GlufsTer?) | dbSNP |
| 5 | g.151259900T>A | CA361806028 | GM2A | c.227T>A (p.Leu76Gln) c.102T>A c.272T>A (p.Leu91Gln) | |
| 5 | g.151259900T>C | CA361806029 | GM2A | c.227T>C (p.Leu76Pro) c.102T>C c.272T>C (p.Leu91Pro) | gnomAD v4 COSMIC |
| 5 | g.151259900T>G | CA361806030 | GM2A | c.227T>G (p.Leu76Arg) c.102T>G c.272T>G (p.Leu91Arg) | |
| 5 | g.151259901G>A | CA447179944 | GM2A | c.228G>A (p.Leu76=) c.103G>A c.273G>A (p.Leu91=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259901G>C | CA447179945 | GM2A | c.228G>C (p.Leu76=) c.103G>C c.273G>C (p.Leu91=) | |
| 5 | g.151259901G= | CA1591312132 | GM2A | c.228G= (p.Leu76=) c.103G= c.273G= (p.Leu91=) | |
| 5 | g.151259901G>T | CA447179946 | GM2A | c.228G>T (p.Leu76=) c.103G>T c.273G>T (p.Leu91=) | |
| 5 | g.151259902A>C | CA361806031 | GM2A | c.229A>C (p.Ser77Arg) c.104A>C c.274A>C (p.Ser92Arg) | |
| 5 | g.151259902A>G | CA361806032 | GM2A | c.229A>G (p.Ser77Gly) c.104A>G c.274A>G (p.Ser92Gly) | |
| 5 | g.151259902A>T | CA361806033 | GM2A | c.229A>T (p.Ser77Cys) c.104A>T c.274A>T (p.Ser92Cys) | |
| 5 | g.151259903del | CA2578457853 | GM2A | c.230del (p.Ser77IlefsTer4) c.105del c.275del (p.Ser92IlefsTer4) | |
| 5 | g.151259903G>A | CA129895038 | GM2A | c.230G>A (p.Ser77Asn) c.105G>A c.275G>A (p.Ser92Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259903G>C | CA361806034 | GM2A | c.230G>C (p.Ser77Thr) c.105G>C c.275G>C (p.Ser92Thr) | |
| 5 | g.151259903G= | CA1591312133 | GM2A | c.230G= (p.Ser77=) c.105G= c.275G= (p.Ser92=) | |
| 5 | g.151259903G>T | CA361806035 | GM2A | c.230G>T (p.Ser77Ile) c.105G>T c.275G>T (p.Ser92Ile) | |
| 5 | g.151259904T>A | CA361806036 | GM2A | c.231T>A (p.Ser77Arg) c.106T>A c.276T>A (p.Ser92Arg) | |
| 5 | g.151259904T>C | CA447179950 | GM2A | c.231T>C (p.Ser77=) c.106T>C c.276T>C (p.Ser92=) | |
| 5 | g.151259904T>G | CA361806037 | GM2A | c.231T>G (p.Ser77Arg) c.106T>G c.276T>G (p.Ser92Arg) | dbSNP |
| 5 | g.151259905T>A | CA361806040 | GM2A | c.232T>A (p.Ser78Thr) c.107T>A c.277T>A (p.Ser93Thr) | |
| 5 | g.151259905T>C | CA361806039 | GM2A | c.232T>C (p.Ser78Pro) c.107T>C c.277T>C (p.Ser93Pro) | |
| 5 | g.151259905T>G | CA361806038 | GM2A | c.232T>G (p.Ser78Ala) c.107T>G c.277T>G (p.Ser93Ala) | dbSNP |
| 5 | g.151259905_151259908delinsTCTC | CA1591312134 | GM2A | c.232_235delinsTCTC (p.Ser78=) c.107_110delinsTCTC c.277_280delinsTCTC (p.Ser93=) | |
| 5 | g.151259906C>A | CA361806041 | GM2A | c.233C>A (p.Ser78Tyr) c.108C>A c.278C>A (p.Ser93Tyr) | |
| 5 | g.151259906C= | CA1591312135 | GM2A | c.233C= (p.Ser78=) c.108C= c.278C= (p.Ser93=) | |
| 5 | g.151259906C>G | CA361806042 | GM2A | c.233C>G (p.Ser78Cys) c.108C>G c.278C>G (p.Ser93Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259906C>T | CA361806043 | GM2A | c.233C>T (p.Ser78Phe) c.108C>T c.278C>T (p.Ser93Phe) | gnomAD v4 |
| 5 | g.151259909_151259911del | CA3517894 | GM2A | c.236_238del (p.Pro79del) c.111_113del c.281_283del (p.Pro94del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259907T>A | CA447179953 | GM2A | c.234T>A (p.Ser78=) c.109T>A c.279T>A (p.Ser93=) | |
| 5 | g.151259907T>C | CA447179955 | GM2A | c.234T>C (p.Ser78=) c.109T>C c.279T>C (p.Ser93=) | |
| 5 | g.151259907T>G | CA447179956 | GM2A | c.234T>G (p.Ser78=) c.109T>G c.279T>G (p.Ser93=) | |
| 5 | g.151259908C>A | CA361806044 | GM2A | c.235C>A (p.Pro79Thr) c.110C>A c.280C>A (p.Pro94Thr) | |
| 5 | g.151259908C= | CA1591312136 | GM2A | c.235C= (p.Pro79=) c.110C= c.280C= (p.Pro94=) | |
| 5 | g.151259908C>G | CA361806045 | GM2A | c.235C>G (p.Pro79Ala) c.110C>G c.280C>G (p.Pro94Ala) | |
| 5 | g.151259908C>T | CA361806046 | GM2A | c.235C>T (p.Pro79Ser) c.110C>T c.280C>T (p.Pro94Ser) | dbSNP |
| 5 | g.151259909C>A | CA361806047 | GM2A | c.236C>A (p.Pro79His) c.111C>A c.281C>A (p.Pro94His) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259909C= | CA1591312137 | GM2A | c.236C= (p.Pro79=) c.111C= c.281C= (p.Pro94=) | |
| 5 | g.151259909C>G | CA361806048 | GM2A | c.236C>G (p.Pro79Arg) c.111C>G c.281C>G (p.Pro94Arg) | |
| 5 | g.151259909C>T | CA361806049 | GM2A | c.236C>T (p.Pro79Leu) c.111C>T c.281C>T (p.Pro94Leu) | |
| 5 | g.151259910T>A | CA447179959 | GM2A | c.237T>A (p.Pro79=) c.112T>A c.282T>A (p.Pro94=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259910T>C | CA447179961 | GM2A | c.237T>C (p.Pro79=) c.112T>C c.282T>C (p.Pro94=) | |
| 5 | g.151259910T>G | CA447179962 | GM2A | c.237T>G (p.Pro79=) c.112T>G c.282T>G (p.Pro94=) | |
| 5 | g.151259910T= | CA1591312138 | GM2A | c.237T= (p.Pro79=) c.112T= c.282T= (p.Pro94=) | |
| 5 | g.151259911C>A | CA361806050 | GM2A | c.238C>A (p.Leu80Met) c.113C>A c.283C>A (p.Leu95Met) | |
| 5 | g.151259911C>G | CA361806051 | GM2A | c.238C>G (p.Leu80Val) c.113C>G c.283C>G (p.Leu95Val) | |
| 5 | g.151259911C>T | CA447179963 | GM2A | c.238C>T (p.Leu80=) c.113C>T c.283C>T (p.Leu95=) | |
| 5 | g.151259912T>A | CA361806054 | GM2A | c.239T>A (p.Leu80Gln) c.114T>A c.284T>A (p.Leu95Gln) | |
| 5 | g.151259912T>C | CA361806053 | GM2A | c.239T>C (p.Leu80Pro) c.114T>C c.284T>C (p.Leu95Pro) | gnomAD v4 |
| 5 | g.151259912T>G | CA361806052 | GM2A | c.239T>G (p.Leu80Arg) c.114T>G c.284T>G (p.Leu95Arg) | |
| 5 | g.151259913G>A | CA447179965 | GM2A | c.240G>A (p.Leu80=) c.115G>A c.285G>A (p.Leu95=) | |
| 5 | g.151259913G>C | CA447179967 | GM2A | c.240G>C (p.Leu80=) c.115G>C c.285G>C (p.Leu95=) | |
| 5 | g.151259913G>T | CA447179964 | GM2A | c.240G>T (p.Leu80=) c.115G>T c.285G>T (p.Leu95=) | |
| 5 | g.151259914A= | CA1591312139 | GM2A | c.241A= (p.Lys81=) c.116A= c.286A= (p.Lys96=) | |
| 5 | g.151259914A>C | CA361806055 | GM2A | c.241A>C (p.Lys81Gln) c.116A>C c.286A>C (p.Lys96Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259914A>G | CA361806056 | GM2A | c.241A>G (p.Lys81Glu) c.116A>G c.286A>G (p.Lys96Glu) | |
| 5 | g.151259914A>T | CA361806057 | GM2A | c.241A>T (p.Lys81Ter) c.116A>T c.286A>T (p.Lys96Ter) | |
| 5 | g.151259915A= | CA1591312140 | GM2A | c.242A= (p.Lys81=) c.117A= c.287A= (p.Lys96=) | |
| 5 | g.151259915A>C | CA361806058 | GM2A | c.242A>C (p.Lys81Thr) c.117A>C c.287A>C (p.Lys96Thr) | |
| 5 | g.151259915A>G | CA361806059 | GM2A | c.242A>G (p.Lys81Arg) c.117A>G c.287A>G (p.Lys96Arg) | dbSNP |
| 5 | g.151259915A>T | CA361806060 | GM2A | c.242A>T (p.Lys81Met) c.117A>T c.287A>T (p.Lys96Met) | |
| 5 | g.151259916G>A | CA447179968 | GM2A | c.243G>A (p.Lys81=) c.118G>A c.288G>A (p.Lys96=) | dbSNP |
| 5 | g.151259916G>C | CA361806061 | GM2A | c.243G>C (p.Lys81Asn) c.118G>C c.288G>C (p.Lys96Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259916G= | CA1591312141 | GM2A | c.243G= (p.Lys81=) c.118G= c.288G= (p.Lys96=) | |
| 5 | g.151259916G>T | CA361806062 | GM2A | c.243G>T (p.Lys81Asn) c.118G>T c.288G>T (p.Lys96Asn) | |
| 5 | g.151259917G>A | CA361806063 | GM2A | c.243+1G>A (n.243+1G>A) c.118+1G>A c.288+1G>A (n.288+1G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259917G>C | CA361806064 | GM2A | c.243+1G>C (n.243+1G>C) c.118+1G>C c.288+1G>C (n.288+1G>C) | |
| 5 | g.151259917G= | CA1591312142 | GM2A | c.243+1G= (n.243+1G=) c.118+1G= c.288+1G= (n.288+1G=) | |
| 5 | g.151259917G>T | CA361806065 | GM2A | c.243+1G>T (n.243+1G>T) c.118+1G>T c.288+1G>T (n.288+1G>T) | |
| 5 | g.151259918T>A | CA361806068 | GM2A | c.243+2T>A (n.243+2T>A) c.118+2T>A c.288+2T>A (n.288+2T>A) | gnomAD v4 |
| 5 | g.151259918T>C | CA361806067 | GM2A | c.243+2T>C (n.243+2T>C) c.118+2T>C c.288+2T>C (n.288+2T>C) | |
| 5 | g.151259918T>G | CA361806066 | GM2A | c.243+2T>G (n.243+2T>G) c.118+2T>G c.288+2T>G (n.288+2T>G) | |
| 5 | g.151259920_151259921del | CA2676067277 | GM2A | c.243+4_243+5del (n.243+4_243+5del) c.118+4_118+5del c.288+4_288+5del (n.288+4_288+5del) | gnomAD v4 |
| 5 | g.151259920A>T | CA2768914055 | GM2A | c.243+4A>T (n.243+4A>T) c.118+4A>T c.288+4A>T (n.288+4A>T) | |
| 5 | g.151259921G>A | CA129895044 | GM2A | c.243+5G>A (n.243+5G>A) c.118+5G>A c.288+5G>A (n.288+5G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259921G= | CA1591312143 | GM2A | c.243+5G= (n.243+5G=) c.118+5G= c.288+5G= (n.288+5G=) | |
| 5 | g.151259921G>T | CA2578457854 | GM2A | c.243+5G>T (n.243+5G>T) c.118+5G>T c.288+5G>T (n.288+5G>T) | gnomAD v4 |
| 5 | g.151259922C>A | CA805653969 | GM2A | c.243+6C>A (n.243+6C>A) c.118+6C>A c.288+6C>A (n.288+6C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259922C= | CA1591312144 | GM2A | c.243+6C= (n.243+6C=) c.118+6C= c.288+6C= (n.288+6C=) | |
| 5 | g.151259922C>T | CA563957684 | GM2A | c.243+6C>T (n.243+6C>T) c.118+6C>T c.288+6C>T (n.288+6C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259924T>A | CA1591312147 | GM2A | c.243+8T>A (n.243+8T>A) c.118+8T>A c.288+8T>A (n.288+8T>A) | dbSNP |
| 5 | g.151259924T= | CA1591312146 | GM2A | c.243+8T= (n.243+8T=) c.118+8T= c.288+8T= (n.288+8T=) | |
| 5 | g.151259924_151259925delinsTG | CA1591312145 | GM2A | c.243+8_243+9delinsTG (n.243+8_243+9delinsTG) c.118+8_118+9delinsTG c.288+8_288+9delinsTG (n.288+8_288+9delinsTG) | |
| 5 | g.151259925G>A | CA805653976 | GM2A | c.243+9G>A (n.243+9G>A) c.118+9G>A c.288+9G>A (n.288+9G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259925G>C | CA3517895 | GM2A | c.243+9G>C (n.243+9G>C) c.118+9G>C c.288+9G>C (n.288+9G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259925G= | CA1591312148 | GM2A | c.243+9G= (n.243+9G=) c.118+9G= c.288+9G= (n.288+9G=) | |
| 5 | g.151259929dup | CA2676067280 | GM2A | c.243+13dup (n.243+13dup) c.118+13dup c.288+13dup (n.288+13dup) | gnomAD v4 |
| 5 | g.151259929del | CA563957685 | GM2A | c.243+13del (n.243+13del) c.118+13del c.288+13del (n.288+13del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259926G>A | CA805653983 | GM2A | c.243+10G>A (n.243+10G>A) c.118+10G>A c.288+10G>A (n.288+10G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151259926G= | CA1591312149 | GM2A | c.243+10G= (n.243+10G=) c.118+10G= c.288+10G= (n.288+10G=) | |
| 5 | g.151259927G>A | CA2676067282 | GM2A | c.243+11G>A (n.243+11G>A) c.118+11G>A c.288+11G>A (n.288+11G>A) | gnomAD v4 |
| 5 | g.151259927G>T | CA2676067283 | GM2A | c.243+11G>T (n.243+11G>T) c.118+11G>T c.288+11G>T (n.288+11G>T) | gnomAD v4 |
| 5 | g.151259928G>A | CA563957686 | GM2A | c.243+12G>A (n.243+12G>A) c.118+12G>A c.288+12G>A (n.288+12G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151259928G>C | CA2676067285 | GM2A | c.243+12G>C (n.243+12G>C) c.118+12G>C c.288+12G>C (n.288+12G>C) | gnomAD v4 |
| 5 | g.151259928G= | CA1591312150 | GM2A | c.243+12G= (n.243+12G=) c.118+12G= c.288+12G= (n.288+12G=) | |
| 5 | g.151259928G>T | CA2676067284 | GM2A | c.243+12G>T (n.243+12G>T) c.118+12G>T c.288+12G>T (n.288+12G>T) | gnomAD v4 |
| 5 | g.151259929G>T | CA2676067286 | GM2A | c.243+13G>T (n.243+13G>T) c.118+13G>T c.288+13G>T (n.288+13G>T) | gnomAD v4 |
| 5 | g.151259930T>A | CA2565066338 | GM2A | c.243+14T>A (n.243+14T>A) c.118+14T>A c.288+14T>A (n.288+14T>A) | |
| 5 | g.151259932G>A | CA3517896 | GM2A | c.243+16G>A (n.243+16G>A) c.118+16G>A c.288+16G>A (n.288+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259932G= | CA1591312151 | GM2A | c.243+16G= (n.243+16G=) c.118+16G= c.288+16G= (n.288+16G=) | |
| 5 | g.151259933G>A | CA2676067287 | GM2A | c.243+17G>A (n.243+17G>A) c.118+17G>A c.288+17G>A (n.288+17G>A) | gnomAD v4 |
| 5 | g.151259936G>C | CA2676067288 | GM2A | c.243+20G>C (n.243+20G>C) c.118+20G>C c.288+20G>C (n.288+20G>C) | gnomAD v4 |
| 5 | g.151259937A= | CA1591312152 | GM2A | c.243+21A= (n.243+21A=) c.118+21A= c.288+21A= (n.288+21A=) | |
| 5 | g.151259937A>G | CA3517897 | GM2A | c.243+21A>G (n.243+21A>G) c.118+21A>G c.288+21A>G (n.288+21A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151259940A>G | CA2676067289 | GM2A | c.243+24A>G (n.243+24A>G) c.118+24A>G c.288+24A>G (n.288+24A>G) | gnomAD v4 |
| 5 | g.151259941G>A | CA3517898 | GM2A | c.243+25G>A (n.243+25G>A) c.118+25G>A c.288+25G>A (n.288+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259941G>C | CA1591312154 | GM2A | c.243+25G>C (n.243+25G>C) c.118+25G>C c.288+25G>C (n.288+25G>C) | dbSNP |
| 5 | g.151259941G= | CA1591312153 | GM2A | c.243+25G= (n.243+25G=) c.118+25G= c.288+25G= (n.288+25G=) | |
| 5 | g.151259943G>A | CA1591312156 | GM2A | c.243+27G>A (n.243+27G>A) c.118+27G>A c.288+27G>A (n.288+27G>A) | dbSNP gnomAD v4 |
| 5 | g.151259943G>C | CA563957687 | GM2A | c.243+27G>C (n.243+27G>C) c.118+27G>C c.288+27G>C (n.288+27G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259943G= | CA1591312155 | GM2A | c.243+27G= (n.243+27G=) c.118+27G= c.288+27G= (n.288+27G=) | |
| 5 | g.151259944G>A | CA3517899 | GM2A | c.243+28G>A (n.243+28G>A) c.118+28G>A c.288+28G>A (n.288+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151259944G= | CA1591312157 | GM2A | c.243+28G= (n.243+28G=) c.118+28G= c.288+28G= (n.288+28G=) | |
| 5 | g.151259945A>G | CA2676067290 | GM2A | c.243+29A>G (n.243+29A>G) c.118+29A>G c.288+29A>G (n.288+29A>G) | gnomAD v4 |