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.151266706C>A | CA2578457882 | GM2A | c.244-25C>A (n.244-25C>A) c.119-25C>A c.289-25C>A (n.289-25C>A) | gnomAD v4 |
| 5 | g.151266706C>T | CA2676067265 | GM2A | c.244-25C>T (n.244-25C>T) c.119-25C>T c.289-25C>T (n.289-25C>T) | gnomAD v4 |
| 5 | g.151266707C>A | CA2676067266 | GM2A | c.244-24C>A (n.244-24C>A) c.119-24C>A c.289-24C>A (n.289-24C>A) | gnomAD v4 |
| 5 | g.151266708T>A | CA563606945 | GM2A | c.244-23T>A (n.244-23T>A) c.119-23T>A c.289-23T>A (n.289-23T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151266708T>C | CA2676067269 | GM2A | c.244-23T>C (n.244-23T>C) c.119-23T>C c.289-23T>C (n.289-23T>C) | gnomAD v4 |
| 5 | g.151266708T= | CA1591314907 | GM2A | c.244-23T= (n.244-23T=) c.119-23T= c.289-23T= (n.289-23T=) | |
| 5 | g.151266710del | CA2676067267 | GM2A | c.244-21del (n.244-21del) c.119-21del c.289-21del (n.289-21del) | gnomAD v4 |
| 5 | g.151266711_151266715del | CA2676067268 | GM2A | c.244-20_244-16del (n.244-20_244-16del) c.119-20_119-16del c.289-20_289-16del (n.289-20_289-16del) | gnomAD v4 |
| 5 | g.151266709T>G | CA2676067270 | GM2A | c.244-22T>G (n.244-22T>G) c.119-22T>G c.289-22T>G (n.289-22T>G) | gnomAD v4 |
| 5 | g.151266713T>C | CA2676067271 | GM2A | c.244-18T>C (n.244-18T>C) c.119-18T>C c.289-18T>C (n.289-18T>C) | gnomAD v4 |
| 5 | g.151266715T>C | CA650659051 | GM2A | c.244-16T>C (n.244-16T>C) c.119-16T>C c.289-16T>C (n.289-16T>C) | COSMIC |
| 5 | g.151266715_151266716delinsTA | CA1591314908 | GM2A | c.244-16_244-15delinsTA (n.244-16_244-15delinsTA) c.119-16_119-15delinsTA c.289-16_289-15delinsTA (n.289-16_289-15delinsTA) | |
| 5 | g.151266716del | CA1082941977 | GM2A | c.244-15del (n.244-15del) c.119-15del c.289-15del (n.289-15del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151266716A= | CA1591314910 | GM2A | c.244-15A= (n.244-15A=) c.119-15A= c.289-15A= (n.289-15A=) | |
| 5 | g.151266716A>G | CA3517912 | GM2A | c.244-15A>G (n.244-15A>G) c.119-15A>G c.289-15A>G (n.289-15A>G) | dbSNP ExAC gnomAD v4 |
| 5 | g.151266716A>T | CA3517909 | GM2A | c.244-15A>T (n.244-15A>T) c.119-15A>T c.289-15A>T (n.289-15A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151266716_151266717delinsAT | CA1591314909 | GM2A | c.244-15_244-14delinsAT (n.244-15_244-14delinsAT) c.119-15_119-14delinsAT c.289-15_289-14delinsAT (n.289-15_289-14delinsAT) | |
| 5 | g.151266716_151266717insCTT | CA2710308652 | GM2A | c.244-15_244-14insCTT (n.244-15_244-14insCTT) c.119-15_119-14insCTT c.289-15_289-14insCTT (n.289-15_289-14insCTT) | dbSNP |
| 5 | g.151266725dup | CA3517911 | GM2A | c.244-6dup (n.244-6dup) c.119-6dup c.289-6dup (n.289-6dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.151266724_151266725dup | CA2676067273 | GM2A | c.244-7_244-6dup (n.244-7_244-6dup) c.119-7_119-6dup c.289-7_289-6dup (n.289-7_289-6dup) | gnomAD v4 |
| 5 | g.151266723_151266725dup | CA2676067274 | GM2A | c.244-8_244-6dup (n.244-8_244-6dup) c.119-8_119-6dup c.289-8_289-6dup (n.289-8_289-6dup) | gnomAD v4 |
| 5 | g.151266725del | CA3517910 | GM2A | c.244-6del (n.244-6del) c.119-6del c.289-6del (n.289-6del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.151266724_151266725del | CA2676067275 | GM2A | c.244-7_244-6del (n.244-7_244-6del) c.119-7_119-6del c.289-7_289-6del (n.289-7_289-6del) | gnomAD v4 |
| 5 | g.151266718T>G | CA3517913 | GM2A | c.244-13T>G (n.244-13T>G) c.119-13T>G c.289-13T>G (n.289-13T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151266718T= | CA1591314911 | GM2A | c.244-13T= (n.244-13T=) c.119-13T= c.289-13T= (n.289-13T=) | |
| 5 | g.151266720T>C | CA2676067276 | GM2A | c.244-11T>C (n.244-11T>C) c.119-11T>C c.289-11T>C (n.289-11T>C) | gnomAD v4 |
| 5 | g.151266723T>C | CA2537170025 | GM2A | c.244-8T>C (n.244-8T>C) c.119-8T>C c.289-8T>C (n.289-8T>C) | |
| 5 | g.151266725T>A | CA2676067278 | GM2A | c.244-6T>A (n.244-6T>A) c.119-6T>A c.289-6T>A (n.289-6T>A) | gnomAD v4 |
| 5 | g.151266725T>C | CA2573139323 | GM2A | c.244-6T>C (n.244-6T>C) c.119-6T>C c.289-6T>C (n.289-6T>C) | ClinVar dbSNP |
| 5 | g.151266725T= | CA1591314912 | GM2A | c.244-6T= (n.244-6T=) c.119-6T= c.289-6T= (n.289-6T=) | |
| 5 | g.151266726A= | CA1591314913 | GM2A | c.244-5A= (n.244-5A=) c.119-5A= c.289-5A= (n.289-5A=) | |
| 5 | g.151266726A>G | CA3517914 | GM2A | c.244-5A>G (n.244-5A>G) c.119-5A>G c.289-5A>G (n.289-5A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151266726A>T | CA2676067279 | GM2A | c.244-5A>T (n.244-5A>T) c.119-5A>T c.289-5A>T (n.289-5A>T) | gnomAD v4 |
| 5 | g.151266726dup | CA361807191 | GM2A | c.244-5dup (n.244-5dup) c.119-5dup c.289-5dup (n.289-5dup) | dbSNP |
| 5 | g.151266728del | CA2676067281 | GM2A | c.244-3del (n.244-3del) c.119-3del c.289-3del (n.289-3del) | gnomAD v4 |
| 5 | g.151266728C= | CA1591314914 | GM2A | c.244-3C= (n.244-3C=) c.119-3C= c.289-3C= (n.289-3C=) | |
| 5 | g.151266728C>T | CA645542346 | GM2A | c.244-3C>T (n.244-3C>T) c.119-3C>T c.289-3C>T (n.289-3C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.151266729A= | CA1591314915 | GM2A | c.244-2A= (n.244-2A=) c.119-2A= c.289-2A= (n.289-2A=) | |
| 5 | g.151266729A>C | CA361807193 | GM2A | c.244-2A>C (n.244-2A>C) c.119-2A>C c.289-2A>C (n.289-2A>C) | |
| 5 | g.151266729A>G | CA361807192 | GM2A | c.244-2A>G (n.244-2A>G) c.119-2A>G c.289-2A>G (n.289-2A>G) | gnomAD v4 |
| 5 | g.151266729A>T | CA16044025 | GM2A | c.244-2A>T (n.244-2A>T) c.119-2A>T c.289-2A>T (n.289-2A>T) | ClinVar dbSNP |
| 5 | g.151266730G>A | CA361807194 | GM2A | c.244-1G>A (n.244-1G>A) c.119-1G>A c.289-1G>A (n.289-1G>A) | |
| 5 | g.151266730G>C | CA361807195 | GM2A | c.244-1G>C (n.244-1G>C) c.119-1G>C c.289-1G>C (n.289-1G>C) | |
| 5 | g.151266730G>T | CA361807196 | GM2A | c.244-1G>T (n.244-1G>T) c.119-1G>T c.289-1G>T (n.289-1G>T) | |
| 5 | g.151266731G>A | CA3517916 | GM2A | c.244G>A (p.Val82Met) c.119G>A c.289G>A (p.Val97Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151266731G>C | CA3517915 | GM2A | c.244G>C (p.Val82Leu) c.119G>C c.289G>C (p.Val97Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151266731G= | CA1591314916 | GM2A | c.244G= (p.Val82=) c.119G= c.289G= (p.Val97=) | |
| 5 | g.151266731G>T | CA361807197 | GM2A | c.244G>T (p.Val82Leu) c.119G>T c.289G>T (p.Val97Leu) | |
| 5 | g.151266732T>A | CA361807198 | GM2A | c.245T>A (p.Val82Glu) c.120T>A c.290T>A (p.Val97Glu) | |
| 5 | g.151266732T>C | CA361807199 | GM2A | c.245T>C (p.Val82Ala) c.120T>C c.290T>C (p.Val97Ala) | gnomAD v4 |
| 5 | g.151266732T>G | CA361807200 | GM2A | c.245T>G (p.Val82Gly) c.120T>G c.290T>G (p.Val97Gly) | |
| 5 | g.151266733G>A | CA447180016 | GM2A | c.246G>A (p.Val82=) c.121G>A c.291G>A (p.Val97=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151266733G>C | CA447180017 | GM2A | c.246G>C (p.Val82=) c.121G>C c.291G>C (p.Val97=) | |
| 5 | g.151266733G= | CA1591314917 | GM2A | c.246G= (p.Val82=) c.121G= c.291G= (p.Val97=) | |
| 5 | g.151266733G>T | CA447180018 | GM2A | c.246G>T (p.Val82=) c.121G>T c.291G>T (p.Val97=) | |
| 5 | g.151266734G>A | CA361807201 | GM2A | c.247G>A (p.Asp83Asn) c.122G>A c.292G>A (p.Asp98Asn) | |
| 5 | g.151266734G>C | CA361807202 | GM2A | c.247G>C (p.Asp83His) c.122G>C c.292G>C (p.Asp98His) | |
| 5 | g.151266734G>T | CA361807203 | GM2A | c.247G>T (p.Asp83Tyr) c.122G>T c.292G>T (p.Asp98Tyr) | gnomAD v2 gnomAD v4 |
| 5 | g.151266735A>C | CA361807206 | GM2A | c.248A>C (p.Asp83Ala) c.123A>C c.293A>C (p.Asp98Ala) | |
| 5 | g.151266735A>G | CA361807205 | GM2A | c.248A>G (p.Asp83Gly) c.123A>G c.293A>G (p.Asp98Gly) | gnomAD v4 |
| 5 | g.151266735A>T | CA361807204 | GM2A | c.248A>T (p.Asp83Val) c.123A>T c.293A>T (p.Asp98Val) | |
| 5 | g.151266736T>A | CA361807475 | GM2A | c.249T>A (p.Asp83Glu) c.124T>A c.294T>A (p.Asp98Glu) | |
| 5 | g.151266736T>C | CA447180116 | GM2A | c.249T>C (p.Asp83=) c.124T>C c.294T>C (p.Asp98=) | |
| 5 | g.151266736T>G | CA361807476 | GM2A | c.249T>G (p.Asp83Glu) c.124T>G c.294T>G (p.Asp98Glu) | |
| 5 | g.151266737T>A | CA361807479 | GM2A | c.250T>A (p.Leu84Ile) c.125T>A c.295T>A (p.Leu99Ile) | |
| 5 | g.151266737T>C | CA447180123 | GM2A | c.250T>C (p.Leu84=) c.125T>C c.295T>C (p.Leu99=) | |
| 5 | g.151266737T>G | CA361807481 | GM2A | c.250T>G (p.Leu84Val) c.125T>G c.295T>G (p.Leu99Val) | |
| 5 | g.151266738T>A | CA361807483 | GM2A | c.251T>A (p.Leu84Ter) c.126T>A c.296T>A (p.Leu99Ter) | |
| 5 | g.151266738T>C | CA361807485 | GM2A | c.251T>C (p.Leu84Ser) c.126T>C c.296T>C (p.Leu99Ser) | |
| 5 | g.151266738T>G | CA361807484 | GM2A | c.251T>G (p.Leu84Ter) c.126T>G c.296T>G (p.Leu99Ter) | |
| 5 | g.151266739A>C | CA361807486 | GM2A | c.252A>C (p.Leu84Phe) c.127A>C c.297A>C (p.Leu99Phe) | COSMIC |
| 5 | g.151266739A>G | CA447180134 | GM2A | c.252A>G (p.Leu84=) c.127A>G c.297A>G (p.Leu99=) | |
| 5 | g.151266739A>T | CA361807487 | GM2A | c.252A>T (p.Leu84Phe) c.127A>T c.297A>T (p.Leu99Phe) | |
| 5 | g.151266740G>A | CA129899278 | GM2A | c.253G>A (p.Val85Ile) c.128G>A c.298G>A (p.Val100Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151266740G>C | CA361807488 | GM2A | c.253G>C (p.Val85Leu) c.128G>C c.298G>C (p.Val100Leu) | dbSNP |
| 5 | g.151266740G= | CA1591314918 | GM2A | c.253G= (p.Val85=) c.128G= c.298G= (p.Val100=) | |
| 5 | g.151266740G>T | CA361807490 | GM2A | c.253G>T (p.Val85Phe) c.128G>T c.298G>T (p.Val100Phe) | |
| 5 | g.151266741T>A | CA361807492 | GM2A | c.254T>A (p.Val85Asp) c.129T>A c.299T>A (p.Val100Asp) | |
| 5 | g.151266741T>C | CA361807493 | GM2A | c.254T>C (p.Val85Ala) c.129T>C c.299T>C (p.Val100Ala) | |
| 5 | g.151266741T>G | CA3517917 | GM2A | c.254T>G (p.Val85Gly) c.129T>G c.299T>G (p.Val100Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151266741T= | CA1591314919 | GM2A | c.254T= (p.Val85=) c.129T= c.299T= (p.Val100=) | |
| 5 | g.151266742T>A | CA447180152 | GM2A | c.255T>A (p.Val85=) c.130T>A c.300T>A (p.Val100=) | |
| 5 | g.151266742T>C | CA447180153 | GM2A | c.255T>C (p.Val85=) c.130T>C c.300T>C (p.Val100=) | |
| 5 | g.151266742T>G | CA447180155 | GM2A | c.255T>G (p.Val85=) c.130T>G c.300T>G (p.Val100=) | |
| 5 | g.151266743T>A | CA361807497 | GM2A | c.256T>A (p.Leu86Met) c.131T>A c.301T>A (p.Leu101Met) | |
| 5 | g.151266743T>C | CA447180160 | GM2A | c.256T>C (p.Leu86=) c.131T>C c.301T>C (p.Leu101=) | |
| 5 | g.151266743T>G | CA361807500 | GM2A | c.256T>G (p.Leu86Val) c.131T>G c.301T>G (p.Leu101Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151266743T= | CA1591314920 | GM2A | c.256T= (p.Leu86=) c.131T= c.301T= (p.Leu101=) | |
| 5 | g.151266744T>A | CA361807507 | GM2A | c.257T>A (p.Leu86Ter) c.132T>A c.302T>A (p.Leu101Ter) | |
| 5 | g.151266744T>C | CA3517918 | GM2A | c.257T>C (p.Leu86Ser) c.132T>C c.302T>C (p.Leu101Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151266744T>G | CA361807504 | GM2A | c.257T>G (p.Leu86Trp) c.132T>G c.302T>G (p.Leu101Trp) | |
| 5 | g.151266744T= | CA1591314921 | GM2A | c.257T= (p.Leu86=) c.132T= c.302T= (p.Leu101=) | |
| 5 | g.151266745G>A | CA447180168 | GM2A | c.258G>A (p.Leu86=) c.133G>A c.303G>A (p.Leu101=) | |
| 5 | g.151266745G>C | CA361807510 | GM2A | c.258G>C (p.Leu86Phe) c.133G>C c.303G>C (p.Leu101Phe) | |
| 5 | g.151266745G>T | CA361807513 | GM2A | c.258G>T (p.Leu86Phe) c.133G>T c.303G>T (p.Leu101Phe) | |
| 5 | g.151266746G>A | CA361807516 | GM2A | c.259G>A (p.Glu87Lys) c.134G>A c.304G>A (p.Glu102Lys) | gnomAD v4 |
| 5 | g.151266746G>C | CA361807519 | GM2A | c.259G>C (p.Glu87Gln) c.134G>C c.304G>C (p.Glu102Gln) | |
| 5 | g.151266746G= | CA1591314923 | GM2A | c.259G= (p.Glu87=) c.134G= c.304G= (p.Glu102=) | |
| 5 | g.151266746G>T | CA361807522 | GM2A | c.259G>T (p.Glu87Ter) c.134G>T c.304G>T (p.Glu102Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151266746_151266749delinsGAGA | CA1591314922 | GM2A | c.259_262delinsGAGA (p.Glu87=) c.134_137delinsGAGA c.304_307delinsGAGA (p.Glu102=) | |
| 5 | g.151266747A>C | CA361807526 | GM2A | c.260A>C (p.Glu87Ala) c.135A>C c.305A>C (p.Glu102Ala) | |
| 5 | g.151266747A>G | CA361807529 | GM2A | c.260A>G (p.Glu87Gly) c.135A>G c.305A>G (p.Glu102Gly) | |
| 5 | g.151266747A>T | CA361807531 | GM2A | c.260A>T (p.Glu87Val) c.135A>T c.305A>T (p.Glu102Val) | |
| 5 | g.151266749_151266751del | CA1139659201 | GM2A | c.262_264del (p.Lys88del) c.137_139del c.307_309del (p.Lys103del) | ClinVar dbSNP |
| 5 | g.151266748G>A | CA3517919 | GM2A | c.261G>A (p.Glu87=) c.136G>A c.306G>A (p.Glu102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151266748G>C | CA361807537 | GM2A | c.261G>C (p.Glu87Asp) c.136G>C c.306G>C (p.Glu102Asp) | |
| 5 | g.151266748G= | CA1591314924 | GM2A | c.261G= (p.Glu87=) c.136G= c.306G= (p.Glu102=) | |
| 5 | g.151266748G>T | CA361807540 | GM2A | c.261G>T (p.Glu87Asp) c.136G>T c.306G>T (p.Glu102Asp) | |
| 5 | g.151266749A>C | CA361807548 | GM2A | c.262A>C (p.Lys88Gln) c.137A>C c.307A>C (p.Lys103Gln) | |
| 5 | g.151266749A>G | CA361807551 | GM2A | c.262A>G (p.Lys88Glu) c.137A>G c.307A>G (p.Lys103Glu) | |
| 5 | g.151266749A>T | CA361807543 | GM2A | c.262A>T (p.Lys88Ter) c.137A>T c.307A>T (p.Lys103Ter) | |
| 5 | g.151266750A>C | CA361807555 | GM2A | c.263A>C (p.Lys88Thr) c.138A>C c.308A>C (p.Lys103Thr) | |
| 5 | g.151266750A>G | CA361807557 | GM2A | c.263A>G (p.Lys88Arg) c.138A>G c.308A>G (p.Lys103Arg) | |
| 5 | g.151266750A>T | CA361807560 | GM2A | c.263A>T (p.Lys88Met) c.138A>T c.308A>T (p.Lys103Met) | |
| 5 | g.151266751G>A | CA447180212 | GM2A | c.264G>A (p.Lys88=) c.139G>A c.309G>A (p.Lys103=) | |
| 5 | g.151266751G>C | CA361807569 | GM2A | c.264G>C (p.Lys88Asn) c.139G>C c.309G>C (p.Lys103Asn) | |
| 5 | g.151266751G>T | CA361807571 | GM2A | c.264G>T (p.Lys88Asn) c.139G>T c.309G>T (p.Lys103Asn) | |
| 5 | g.151266752G>A | CA361807579 | GM2A | c.265G>A (p.Glu89Lys) c.140G>A c.310G>A (p.Glu104Lys) | |
| 5 | g.151266752G>C | CA361807590 | GM2A | c.265G>C (p.Glu89Gln) c.140G>C c.310G>C (p.Glu104Gln) | |
| 5 | g.151266752G>T | CA361807594 | GM2A | c.265G>T (p.Glu89Ter) c.140G>T c.310G>T (p.Glu104Ter) | |
| 5 | g.151266753A>C | CA361807598 | GM2A | c.266A>C (p.Glu89Ala) c.141A>C c.311A>C (p.Glu104Ala) | |
| 5 | g.151266753A>G | CA361807599 | GM2A | c.266A>G (p.Glu89Gly) c.141A>G c.311A>G (p.Glu104Gly) | |
| 5 | g.151266753A>T | CA361807600 | GM2A | c.266A>T (p.Glu89Val) c.141A>T c.311A>T (p.Glu104Val) | gnomAD v4 |
| 5 | g.151266754G>A | CA447180232 | GM2A | c.267G>A (p.Glu89=) c.142G>A c.312G>A (p.Glu104=) | |
| 5 | g.151266754G>C | CA361807601 | GM2A | c.267G>C (p.Glu89Asp) c.142G>C c.312G>C (p.Glu104Asp) | |
| 5 | g.151266754G>T | CA361807602 | GM2A | c.267G>T (p.Glu89Asp) c.142G>T c.312G>T (p.Glu104Asp) | |
| 5 | g.151266755G>A | CA361807613 | GM2A | c.268G>A (p.Val90Met) c.143G>A c.313G>A (p.Val105Met) | |
| 5 | g.151266755G>C | CA129899288 | GM2A | c.268G>C (p.Val90Leu) c.143G>C c.313G>C (p.Val105Leu) | dbSNP |
| 5 | g.151266755G= | CA1591314925 | GM2A | c.268G= (p.Val90=) c.143G= c.313G= (p.Val105=) | |
| 5 | g.151266755G>T | CA361807606 | GM2A | c.268G>T (p.Val90Leu) c.143G>T c.313G>T (p.Val105Leu) | |
| 5 | g.151266756T>A | CA361807619 | GM2A | c.269T>A (p.Val90Glu) c.144T>A c.314T>A (p.Val105Glu) | |
| 5 | g.151266756T>C | CA361807620 | GM2A | c.269T>C (p.Val90Ala) c.144T>C c.314T>C (p.Val105Ala) | |
| 5 | g.151266756T>G | CA361807622 | GM2A | c.269T>G (p.Val90Gly) c.144T>G c.314T>G (p.Val105Gly) | |
| 5 | g.151266756_151266757insAGGAAGGAGAGGGAGGGAGGAAGGAGAGGGAGGGAGGAA | CA2512713385 | GM2A | c.269_270insAGGAAGGAGAGGGAGGGAGGAAGGAGAGGGAGGGAGGAA (p.Val90_Ala91insGlyArgArgGlyArgGluGluGlyGluGlyGlyArgLys) c.144_145insAGGAAGGAGAGGGAGGGAGGAAGGAGAGGGAGGGAGGAA c.314_315insAGGAAGGAGAGGGAGGGAGGAAGGAGAGGGAGGGAGGAA (p.Val105_Ala106insGlyArgArgGlyArgGluGluGlyGluGlyGlyArgLys) | |
| 5 | g.151266757G>A | CA447180251 | GM2A | c.270G>A (p.Val90=) c.145G>A c.315G>A (p.Val105=) | |
| 5 | g.151266757G>C | CA447180252 | GM2A | c.270G>C (p.Val90=) c.145G>C c.315G>C (p.Val105=) | |
| 5 | g.151266757G>T | CA447180255 | GM2A | c.270G>T (p.Val90=) c.145G>T c.315G>T (p.Val105=) | |
| 5 | g.151266758G>A | CA361807623 | GM2A | c.271G>A (p.Ala91Thr) c.146G>A c.316G>A (p.Ala106Thr) | |
| 5 | g.151266758G>C | CA361807625 | GM2A | c.271G>C (p.Ala91Pro) c.146G>C c.316G>C (p.Ala106Pro) | |
| 5 | g.151266758G>T | CA361807626 | GM2A | c.271G>T (p.Ala91Ser) c.146G>T c.316G>T (p.Ala106Ser) | |
| 5 | g.151266759C>A | CA361807627 | GM2A | c.272C>A (p.Ala91Asp) c.147C>A c.317C>A (p.Ala106Asp) | |
| 5 | g.151266759C= | CA1591314926 | GM2A | c.272C= (p.Ala91=) c.147C= c.317C= (p.Ala106=) | |
| 5 | g.151266759C>G | CA361807628 | GM2A | c.272C>G (p.Ala91Gly) c.147C>G c.317C>G (p.Ala106Gly) | |
| 5 | g.151266759C>T | CA3517920 | GM2A | c.272C>T (p.Ala91Val) c.147C>T c.317C>T (p.Ala106Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151266760T>A | CA447180270 | GM2A | c.273T>A (p.Ala91=) c.148T>A c.318T>A (p.Ala106=) | |
| 5 | g.151266760T>C | CA447180274 | GM2A | c.273T>C (p.Ala91=) c.148T>C c.318T>C (p.Ala106=) | |
| 5 | g.151266760T>G | CA447180272 | GM2A | c.273T>G (p.Ala91=) c.148T>G c.318T>G (p.Ala106=) | |
| 5 | g.151266761G>A | CA361807632 | GM2A | c.274G>A (p.Gly92Ser) c.149G>A c.319G>A (p.Gly107Ser) | |
| 5 | g.151266761G>C | CA361807635 | GM2A | c.274G>C (p.Gly92Arg) c.149G>C c.319G>C (p.Gly107Arg) | |
| 5 | g.151266761G>T | CA361807637 | GM2A | c.274G>T (p.Gly92Cys) c.149G>T c.319G>T (p.Gly107Cys) | |
| 5 | g.151266762G>A | CA361807646 | GM2A | c.275G>A (p.Gly92Asp) c.150G>A c.320G>A (p.Gly107Asp) | COSMIC |
| 5 | g.151266762G>C | CA361807643 | GM2A | c.275G>C (p.Gly92Ala) c.150G>C c.320G>C (p.Gly107Ala) | |
| 5 | g.151266762G>T | CA361807640 | GM2A | c.275G>T (p.Gly92Val) c.150G>T c.320G>T (p.Gly107Val) | gnomAD v4 |
| 5 | g.151266763C>A | CA447180292 | GM2A | c.276C>A (p.Gly92=) c.151C>A c.321C>A (p.Gly107=) | |
| 5 | g.151266763C= | CA1591314929 | GM2A | c.276C= (p.Gly92=) c.151C= c.321C= (p.Gly107=) | |
| 5 | g.151266763C>G | CA447180293 | GM2A | c.276C>G (p.Gly92=) c.151C>G c.321C>G (p.Gly107=) | |
| 5 | g.151266763C>T | CA447180296 | GM2A | c.276C>T (p.Gly92=) c.151C>T c.321C>T (p.Gly107=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151266763_151266764delinsCC | CA1591314928 | GM2A | c.276_277delinsCC (p.Gly92=) c.151_152delinsCC c.321_322delinsCC (p.Gly107=) | |
| 5 | g.151266763_151266764delinsTT | CA1591314927 | GM2A | c.276_277delinsTT (p.Leu93Phe) c.151_152delinsTT c.321_322delinsTT (p.Leu108Phe) | ClinVar dbSNP |
| 5 | g.151266764C>A | CA361807651 | GM2A | c.277C>A (p.Leu93Ile) c.152C>A c.322C>A (p.Leu108Ile) | |
| 5 | g.151266764C= | CA1591314930 | GM2A | c.277C= (p.Leu93=) c.152C= c.322C= (p.Leu108=) | |
| 5 | g.151266764C>G | CA361807656 | GM2A | c.277C>G (p.Leu93Val) c.152C>G c.322C>G (p.Leu108Val) | |
| 5 | g.151266764C>T | CA361807653 | GM2A | c.277C>T (p.Leu93Phe) c.152C>T c.322C>T (p.Leu108Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151266765T>A | CA361807657 | GM2A | c.278T>A (p.Leu93His) c.153T>A c.323T>A (p.Leu108His) | |
| 5 | g.151266765T>C | CA361807658 | GM2A | c.278T>C (p.Leu93Pro) c.153T>C c.323T>C (p.Leu108Pro) | |
| 5 | g.151266765T>G | CA361807659 | GM2A | c.278T>G (p.Leu93Arg) c.153T>G c.323T>G (p.Leu108Arg) | |
| 5 | g.151266765_151266766delinsGT | CA2573139324 | GM2A | c.278_279delinsGT (p.Leu93Arg) c.153_154delinsGT c.323_324delinsGT (p.Leu108Arg) | ClinVar dbSNP |
| 5 | g.151266766C>A | CA447180298 | GM2A | c.279C>A (p.Leu93=) c.154C>A c.324C>A (p.Leu108=) | |
| 5 | g.151266766C= | CA1591314931 | GM2A | c.279C= (p.Leu93=) c.154C= c.324C= (p.Leu108=) | |
| 5 | g.151266766C>G | CA447180299 | GM2A | c.279C>G (p.Leu93=) c.154C>G c.324C>G (p.Leu108=) | dbSNP |
| 5 | g.151266766C>T | CA447180300 | GM2A | c.279C>T (p.Leu93=) c.154C>T c.324C>T (p.Leu108=) | |
| 5 | g.151266767T>A | CA361807662 | GM2A | c.280T>A (p.Trp94Arg) c.155T>A c.325T>A (p.Trp109Arg) | |
| 5 | g.151266767T>C | CA361807665 | GM2A | c.280T>C (p.Trp94Arg) c.155T>C c.325T>C (p.Trp109Arg) | |
| 5 | g.151266767T>G | CA361807668 | GM2A | c.280T>G (p.Trp94Gly) c.155T>G c.325T>G (p.Trp109Gly) | |
| 5 | g.151266768G>A | CA361807672 | GM2A | c.281G>A (p.Trp94Ter) c.156G>A c.326G>A (p.Trp109Ter) | |
| 5 | g.151266768G>C | CA361807673 | GM2A | c.281G>C (p.Trp94Ser) c.156G>C c.326G>C (p.Trp109Ser) | |
| 5 | g.151266768G>T | CA361807676 | GM2A | c.281G>T (p.Trp94Leu) c.156G>T c.326G>T (p.Trp109Leu) | |
| 5 | g.151266769G>A | CA361807679 | GM2A | c.282G>A (p.Trp94Ter) c.157G>A c.327G>A (p.Trp109Ter) | |
| 5 | g.151266769G>C | CA361807681 | GM2A | c.282G>C (p.Trp94Cys) c.157G>C c.327G>C (p.Trp109Cys) | |
| 5 | g.151266769G>T | CA361807684 | GM2A | c.282G>T (p.Trp94Cys) c.157G>T c.327G>T (p.Trp109Cys) | |
| 5 | g.151266770A>C | CA361807688 | GM2A | c.283A>C (p.Ile95Leu) c.158A>C c.328A>C (p.Ile110Leu) | |
| 5 | g.151266770A>G | CA361807692 | GM2A | c.283A>G (p.Ile95Val) c.158A>G c.328A>G (p.Ile110Val) | |
| 5 | g.151266770A>T | CA361807691 | GM2A | c.283A>T (p.Ile95Phe) c.158A>T c.328A>T (p.Ile110Phe) | |
| 5 | g.151266771T>A | CA361807694 | GM2A | c.284T>A (p.Ile95Asn) c.159T>A c.329T>A (p.Ile110Asn) | |
| 5 | g.151266771T>C | CA361807695 | GM2A | c.284T>C (p.Ile95Thr) c.159T>C c.329T>C (p.Ile110Thr) | |
| 5 | g.151266771T>G | CA361807706 | GM2A | c.284T>G (p.Ile95Ser) c.159T>G c.329T>G (p.Ile110Ser) | |
| 5 | g.151266772C>A | CA447180302 | GM2A | c.285C>A (p.Ile95=) c.160C>A c.330C>A (p.Ile110=) | |
| 5 | g.151266772C= | CA1591314932 | GM2A | c.285C= (p.Ile95=) c.160C= c.330C= (p.Ile110=) | |
| 5 | g.151266772C>G | CA361807711 | GM2A | c.285C>G (p.Ile95Met) c.160C>G c.330C>G (p.Ile110Met) | |
| 5 | g.151266772C>T | CA447180303 | GM2A | c.285C>T (p.Ile95=) c.160C>T c.330C>T (p.Ile110=) | dbSNP gnomAD v2 COSMIC |
| 5 | g.151266773A= | CA1591314933 | GM2A | c.286A= (p.Lys96=) c.161A= c.331A= (p.Lys111=) | |
| 5 | g.151266773A>C | CA361807714 | GM2A | c.286A>C (p.Lys96Gln) c.161A>C c.331A>C (p.Lys111Gln) | |
| 5 | g.151266773A>G | CA3517921 | GM2A | c.286A>G (p.Lys96Glu) c.161A>G c.331A>G (p.Lys111Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151266773A>T | CA361807720 | GM2A | c.286A>T (p.Lys96Ter) c.161A>T c.331A>T (p.Lys111Ter) | |
| 5 | g.151266774A>C | CA361807727 | GM2A | c.287A>C (p.Lys96Thr) c.162A>C c.332A>C (p.Lys111Thr) | |
| 5 | g.151266774A>G | CA361807730 | GM2A | c.287A>G (p.Lys96Arg) c.162A>G c.332A>G (p.Lys111Arg) | |
| 5 | g.151266774A>T | CA361807733 | GM2A | c.287A>T (p.Lys96Met) c.162A>T c.332A>T (p.Lys111Met) | |
| 5 | g.151266775G>A | CA447180304 | GM2A | c.288G>A (p.Lys96=) c.163G>A c.333G>A (p.Lys111=) | |
| 5 | g.151266775G>C | CA361807737 | GM2A | c.288G>C (p.Lys96Asn) c.163G>C c.333G>C (p.Lys111Asn) | |
| 5 | g.151266775G>T | CA361807735 | GM2A | c.288G>T (p.Lys96Asn) c.163G>T c.333G>T (p.Lys111Asn) | |
| 5 | g.151266776A= | CA1591314934 | GM2A | c.289A= (p.Ile97=) c.164A= c.334A= (p.Ile112=) | |
| 5 | g.151266776A>C | CA361807740 | GM2A | c.289A>C (p.Ile97Leu) c.164A>C c.334A>C (p.Ile112Leu) | |
| 5 | g.151266776A>G | CA361807743 | GM2A | c.289A>G (p.Ile97Val) c.164A>G c.334A>G (p.Ile112Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151266776A>T | CA361807745 | GM2A | c.289A>T (p.Ile97Phe) c.164A>T c.334A>T (p.Ile112Phe) | |
| 5 | g.151266777T>A | CA361807747 | GM2A | c.290T>A (p.Ile97Asn) c.165T>A c.335T>A (p.Ile112Asn) | |
| 5 | g.151266777T>C | CA361807750 | GM2A | c.290T>C (p.Ile97Thr) c.165T>C c.335T>C (p.Ile112Thr) | |
| 5 | g.151266777T>G | CA361807752 | GM2A | c.290T>G (p.Ile97Ser) c.165T>G c.335T>G (p.Ile112Ser) | |
| 5 | g.151266778C>A | CA447180305 | GM2A | c.291C>A (p.Ile97=) c.166C>A c.336C>A (p.Ile112=) | gnomAD v4 |
| 5 | g.151266778C= | CA1591314935 | GM2A | c.291C= (p.Ile97=) c.166C= c.336C= (p.Ile112=) | |
| 5 | g.151266778C>G | CA3517922 | GM2A | c.291C>G (p.Ile97Met) c.166C>G c.336C>G (p.Ile112Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151266778C>T | CA3517923 | GM2A | c.291C>T (p.Ile97=) c.166C>T c.336C>T (p.Ile112=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151266779C>A | CA361807757 | GM2A | c.292C>A (p.Pro98Thr) c.167C>A c.337C>A (p.Pro113Thr) | |
| 5 | g.151266779C>G | CA361807759 | GM2A | c.292C>G (p.Pro98Ala) c.167C>G c.337C>G (p.Pro113Ala) | |
| 5 | g.151266779C>T | CA361807760 | GM2A | c.292C>T (p.Pro98Ser) c.167C>T c.337C>T (p.Pro113Ser) | |
| 5 | g.151266780C>A | CA361807761 | GM2A | c.293C>A (p.Pro98Gln) c.168C>A c.338C>A (p.Pro113Gln) | |
| 5 | g.151266780C>G | CA361807765 | GM2A | c.293C>G (p.Pro98Arg) c.168C>G c.338C>G (p.Pro113Arg) | |
| 5 | g.151266780C>T | CA361807772 | GM2A | c.293C>T (p.Pro98Leu) c.168C>T c.338C>T (p.Pro113Leu) | |
| 5 | g.151266781A= | CA1591314936 | GM2A | c.294A= (p.Pro98=) c.169A= c.339A= (p.Pro113=) | |
| 5 | g.151266781A>C | CA447180306 | GM2A | c.294A>C (p.Pro98=) c.169A>C c.339A>C (p.Pro113=) | |
| 5 | g.151266781A>G | CA3517924 | GM2A | c.294A>G (p.Pro98=) c.169A>G c.339A>G (p.Pro113=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151266781A>T | CA447180307 | GM2A | c.294A>T (p.Pro98=) c.169A>T c.339A>T (p.Pro113=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151266782T>A | CA361807777 | GM2A | c.295T>A (p.Cys99Ser) c.170T>A c.340T>A (p.Cys114Ser) | |
| 5 | g.151266782T>C | CA361807778 | GM2A | c.295T>C (p.Cys99Arg) c.170T>C c.340T>C (p.Cys114Arg) | gnomAD v4 |
| 5 | g.151266782T>G | CA361807781 | GM2A | c.295T>G (p.Cys99Gly) c.170T>G c.340T>G (p.Cys114Gly) | |
| 5 | g.151266783G>A | CA3517925 | GM2A | c.296G>A (p.Cys99Tyr) c.171G>A c.341G>A (p.Cys114Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151266783G>C | CA361807786 | GM2A | c.296G>C (p.Cys99Ser) c.171G>C c.341G>C (p.Cys114Ser) | |
| 5 | g.151266783G= | CA1591314937 | GM2A | c.296G= (p.Cys99=) c.171G= c.341G= (p.Cys114=) | |
| 5 | g.151266783G>T | CA361807788 | GM2A | c.296G>T (p.Cys99Phe) c.171G>T c.341G>T (p.Cys114Phe) | |
| 5 | g.151266783_151266785delinsGCA | CA1591314938 | GM2A | c.296_298delinsGCA (p.Cys99=) c.171_173delinsGCA c.341_343delinsGCA (p.Cys114=) | |
| 5 | g.151266784C>A | CA361807792 | GM2A | c.297C>A (p.Cys99Ter) c.172C>A c.342C>A (p.Cys114Ter) | gnomAD v4 |
| 5 | g.151266784C= | CA1591314939 | GM2A | c.297C= (p.Cys99=) c.172C= c.342C= (p.Cys114=) | |
| 5 | g.151266784C>G | CA361807794 | GM2A | c.297C>G (p.Cys99Trp) c.172C>G c.342C>G (p.Cys114Trp) | |
| 5 | g.151266784C>T | CA447180311 | GM2A | c.297C>T (p.Cys99=) c.172C>T c.342C>T (p.Cys114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151266786_151266787del | CA563957702 | GM2A | c.299_300del (p.Thr100ArgfsTer9) c.174_175del c.344_345del (p.Thr115ArgfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151266785A>C | CA361807797 | GM2A | c.298A>C (p.Thr100Pro) c.173A>C c.343A>C (p.Thr115Pro) | |
| 5 | g.151266785A>G | CA361807799 | GM2A | c.298A>G (p.Thr100Ala) c.173A>G c.343A>G (p.Thr115Ala) | gnomAD v4 |
| 5 | g.151266785A>T | CA361807802 | GM2A | c.298A>T (p.Thr100Ser) c.173A>T c.343A>T (p.Thr115Ser) | |
| 5 | g.151266786C>A | CA361807806 | GM2A | c.299C>A (p.Thr100Lys) c.174C>A c.344C>A (p.Thr115Lys) | |
| 5 | g.151266786C= | CA1591314940 | GM2A | c.299C= (p.Thr100=) c.174C= c.344C= (p.Thr115=) | |
| 5 | g.151266786C>G | CA129899340 | GM2A | c.299C>G (p.Thr100Arg) c.174C>G c.344C>G (p.Thr115Arg) | dbSNP |
| 5 | g.151266786C>T | CA361807809 | GM2A | c.299C>T (p.Thr100Ile) c.174C>T c.344C>T (p.Thr115Ile) | |
| 5 | g.151266787A>C | CA447180312 | GM2A | c.300A>C (p.Thr100=) c.175A>C c.345A>C (p.Thr115=) | |
| 5 | g.151266787A>G | CA447180313 | GM2A | c.300A>G (p.Thr100=) c.175A>G c.345A>G (p.Thr115=) | |
| 5 | g.151266787A>T | CA447180314 | GM2A | c.300A>T (p.Thr100=) c.175A>T c.345A>T (p.Thr115=) | |
| 5 | g.151266788G>A | CA361807817 | GM2A | c.301G>A (p.Asp101Asn) c.176G>A c.346G>A (p.Asp116Asn) | |
| 5 | g.151266788G>C | CA361807819 | GM2A | c.301G>C (p.Asp101His) c.176G>C c.346G>C (p.Asp116His) | |
| 5 | g.151266788G>T | CA361807813 | GM2A | c.301G>T (p.Asp101Tyr) c.176G>T c.346G>T (p.Asp116Tyr) | |
| 5 | g.151266789A>C | CA361807823 | GM2A | c.302A>C (p.Asp101Ala) c.177A>C c.347A>C (p.Asp116Ala) | |
| 5 | g.151266789A>G | CA361807821 | GM2A | c.302A>G (p.Asp101Gly) c.177A>G c.347A>G (p.Asp116Gly) | |
| 5 | g.151266789A>T | CA361807825 | GM2A | c.302A>T (p.Asp101Val) c.177A>T c.347A>T (p.Asp116Val) | |
| 5 | g.151266790C>A | CA361807831 | GM2A | c.303C>A (p.Asp101Glu) c.178C>A c.348C>A (p.Asp116Glu) | |
| 5 | g.151266790C= | CA1591314941 | GM2A | c.303C= (p.Asp101=) c.178C= c.348C= (p.Asp116=) | |
| 5 | g.151266790C>G | CA361807834 | GM2A | c.303C>G (p.Asp101Glu) c.178C>G c.348C>G (p.Asp116Glu) | |
| 5 | g.151266790C>T | CA447180316 | GM2A | c.303C>T (p.Asp101=) c.178C>T c.348C>T (p.Asp116=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151266791T>A | CA361807837 | GM2A | c.304T>A (p.Tyr102Asn) c.179T>A c.349T>A (p.Tyr117Asn) | |
| 5 | g.151266791T>C | CA361807839 | GM2A | c.304T>C (p.Tyr102His) c.179T>C c.349T>C (p.Tyr117His) | |
| 5 | g.151266791T>G | CA361807841 | GM2A | c.304T>G (p.Tyr102Asp) c.179T>G c.349T>G (p.Tyr117Asp) | |
| 5 | g.151266791dup | CA1591314942 | GM2A | c.304dup (p.Tyr102LeufsTer8) c.179dup c.349dup (p.Tyr117LeufsTer8) | dbSNP |
| 5 | g.151266792A>C | CA361807843 | GM2A | c.305A>C (p.Tyr102Ser) c.180A>C c.350A>C (p.Tyr117Ser) | COSMIC |
| 5 | g.151266792A>G | CA361807845 | GM2A | c.305A>G (p.Tyr102Cys) c.180A>G c.350A>G (p.Tyr117Cys) | gnomAD v4 |
| 5 | g.151266792A>T | CA361807847 | GM2A | c.305A>T (p.Tyr102Phe) c.180A>T c.350A>T (p.Tyr117Phe) | |
| 5 | g.151266793C>A | CA361807850 | GM2A | c.306C>A (p.Tyr102Ter) c.181C>A c.351C>A (p.Tyr117Ter) | |
| 5 | g.151266793C>G | CA361807853 | GM2A | c.306C>G (p.Tyr102Ter) c.181C>G c.351C>G (p.Tyr117Ter) | |
| 5 | g.151266793C>T | CA447180317 | GM2A | c.306C>T (p.Tyr102=) c.181C>T c.351C>T (p.Tyr117=) | |
| 5 | g.151266794A= | CA1591314943 | GM2A | c.307A= (p.Ile103=) c.182A= c.352A= (p.Ile118=) | |
| 5 | g.151266794A>C | CA3517926 | GM2A | c.307A>C (p.Ile103Leu) c.182A>C c.352A>C (p.Ile118Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151266794A>G | CA361807858 | GM2A | c.307A>G (p.Ile103Val) c.182A>G c.352A>G (p.Ile118Val) | |
| 5 | g.151266794A>T | CA361807860 | GM2A | c.307A>T (p.Ile103Phe) c.182A>T c.352A>T (p.Ile118Phe) | gnomAD v4 |
| 5 | g.151266795T>A | CA361807867 | GM2A | c.308T>A (p.Ile103Asn) c.183T>A c.353T>A (p.Ile118Asn) | |
| 5 | g.151266795T>C | CA361807871 | GM2A | c.308T>C (p.Ile103Thr) c.183T>C c.353T>C (p.Ile118Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151266795T>G | CA361807869 | GM2A | c.308T>G (p.Ile103Ser) c.183T>G c.353T>G (p.Ile118Ser) | |
| 5 | g.151266795T= | CA1591314944 | GM2A | c.308T= (p.Ile103=) c.183T= c.353T= (p.Ile118=) | |
| 5 | g.151266796T>A | CA447180319 | GM2A | c.309T>A (p.Ile103=) c.184T>A c.354T>A (p.Ile118=) | |
| 5 | g.151266796T>C | CA447180318 | GM2A | c.309T>C (p.Ile103=) c.184T>C c.354T>C (p.Ile118=) | |
| 5 | g.151266796T>G | CA361807874 | GM2A | c.309T>G (p.Ile103Met) c.184T>G c.354T>G (p.Ile118Met) | |
| 5 | g.151266797G>A | CA361807876 | GM2A | c.310G>A (p.Gly104Ser) c.185G>A c.355G>A (p.Gly119Ser) | |
| 5 | g.151266797G>C | CA361807877 | GM2A | c.310G>C (p.Gly104Arg) c.185G>C c.355G>C (p.Gly119Arg) | |
| 5 | g.151266797G>T | CA361807879 | GM2A | c.310G>T (p.Gly104Cys) c.185G>T c.355G>T (p.Gly119Cys) | |
| 5 | g.151266798G>A | CA361807880 | GM2A | c.311G>A (p.Gly104Asp) c.186G>A c.356G>A (p.Gly119Asp) | |
| 5 | g.151266798G>C | CA361807883 | GM2A | c.311G>C (p.Gly104Ala) c.186G>C c.356G>C (p.Gly119Ala) | |
| 5 | g.151266798G>T | CA361807884 | GM2A | c.311G>T (p.Gly104Val) c.186G>T c.356G>T (p.Gly119Val) | |
| 5 | g.151266799del | CA2695202754 | GM2A | c.312del (p.Ser105AlafsTer14) c.187del c.357del (p.Ser120AlafsTer14) | |
| 5 | g.151266799C>A | CA447180320 | GM2A | c.312C>A (p.Gly104=) c.187C>A c.357C>A (p.Gly119=) | |
| 5 | g.151266799C= | CA1591314945 | GM2A | c.312C= (p.Gly104=) c.187C= c.357C= (p.Gly119=) | |
| 5 | g.151266799C>G | CA447180321 | GM2A | c.312C>G (p.Gly104=) c.187C>G c.357C>G (p.Gly119=) | |
| 5 | g.151266799C>T | CA447180322 | GM2A | c.312C>T (p.Gly104=) c.187C>T c.357C>T (p.Gly119=) | dbSNP gnomAD v4 |
| 5 | g.151266800A>C | CA361807887 | GM2A | c.313A>C (p.Ser105Arg) c.188A>C c.358A>C (p.Ser120Arg) | |
| 5 | g.151266800A>G | CA361807894 | GM2A | c.313A>G (p.Ser105Gly) c.188A>G c.358A>G (p.Ser120Gly) | gnomAD v4 |
| 5 | g.151266800A>T | CA361807897 | GM2A | c.313A>T (p.Ser105Cys) c.188A>T c.358A>T (p.Ser120Cys) | |
| 5 | g.151266801G>A | CA361807904 | GM2A | c.314G>A (p.Ser105Asn) c.189G>A c.359G>A (p.Ser120Asn) | gnomAD v4 |
| 5 | g.151266801G>C | CA361807901 | GM2A | c.314G>C (p.Ser105Thr) c.189G>C c.359G>C (p.Ser120Thr) | gnomAD v4 |
| 5 | g.151266801G>T | CA361807899 | GM2A | c.314G>T (p.Ser105Ile) c.189G>T c.359G>T (p.Ser120Ile) | gnomAD v4 |
| 5 | g.151266802C>A | CA361807906 | GM2A | c.315C>A (p.Ser105Arg) c.190C>A c.360C>A (p.Ser120Arg) | |
| 5 | g.151266802C= | CA1591314946 | GM2A | c.315C= (p.Ser105=) c.190C= c.360C= (p.Ser120=) | |
| 5 | g.151266802C>G | CA361807908 | GM2A | c.315C>G (p.Ser105Arg) c.190C>G c.360C>G (p.Ser120Arg) | dbSNP gnomAD v2 |
| 5 | g.151266802C>T | CA129899355 | GM2A | c.315C>T (p.Ser105=) c.190C>T c.360C>T (p.Ser120=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.151266803T>A | CA361807909 | GM2A | c.316T>A (p.Cys106Ser) c.191T>A c.361T>A (p.Cys121Ser) | |
| 5 | g.151266803T>C | CA361807913 | GM2A | c.316T>C (p.Cys106Arg) c.191T>C c.361T>C (p.Cys121Arg) | |
| 5 | g.151266803T>G | CA361807914 | GM2A | c.316T>G (p.Cys106Gly) c.191T>G c.361T>G (p.Cys121Gly) | |
| 5 | g.151266803_151266816delinsTGTACCTTTGAACA | CA1591314947 | GM2A | c.316_329delinsTGTACCTTTGAACA (p.Cys106=) c.191_204delinsTGTACCTTTGAACA c.361_374delinsTGTACCTTTGAACA (p.Cys121=) | |
| 5 | g.151266804G>A | CA361807915 | GM2A | c.317G>A (p.Cys106Tyr) c.192G>A c.362G>A (p.Cys121Tyr) | |
| 5 | g.151266804G>C | CA361807916 | GM2A | c.317G>C (p.Cys106Ser) c.192G>C c.362G>C (p.Cys121Ser) | |
| 5 | g.151266804G>T | CA361807918 | GM2A | c.317G>T (p.Cys106Phe) c.192G>T c.362G>T (p.Cys121Phe) | |
| 5 | g.151266804_151266816del | CA563957703 | GM2A | c.317_329del (p.Cys106SerfsTer9) c.192_204del c.362_374del (p.Cys121SerfsTer9) | dbSNP gnomAD v2 |
| 5 | g.151266805T>A | CA361807921 | GM2A | c.318T>A (p.Cys106Ter) c.193T>A c.363T>A (p.Cys121Ter) | |
| 5 | g.151266805T>C | CA447180324 | GM2A | c.318T>C (p.Cys106=) c.193T>C c.363T>C (p.Cys121=) | gnomAD v4 |
| 5 | g.151266805T>G | CA361807923 | GM2A | c.318T>G (p.Cys106Trp) c.193T>G c.363T>G (p.Cys121Trp) |