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 |
|---|---|---|---|---|---|
| 14 | g.87976398G>A | CA390749418 | GALC | c.712C>T (p.Leu238Phe) c.643C>T (p.Leu215Phe) c.634C>T (p.Leu212Phe) n.702C>T n.467C>T c.544C>T (p.Leu182Phe) n.591C>T c.79C>T (p.Leu27Phe) c.*110C>T (n.*110C>T) c.702C>T | |
| 14 | g.87976398G>C | CA390749416 | GALC | c.712C>G (p.Leu238Val) c.643C>G (p.Leu215Val) c.634C>G (p.Leu212Val) n.702C>G n.467C>G c.544C>G (p.Leu182Val) n.591C>G c.79C>G (p.Leu27Val) c.*110C>G (n.*110C>G) c.702C>G | |
| 14 | g.87976398G>T | CA390749415 | GALC | c.712C>A (p.Leu238Ile) c.643C>A (p.Leu215Ile) c.634C>A (p.Leu212Ile) n.702C>A n.467C>A c.544C>A (p.Leu182Ile) n.591C>A c.79C>A (p.Leu27Ile) c.*110C>A (n.*110C>A) c.702C>A | |
| 14 | g.87976399C>A | CA390749420 | GALC | c.711G>T (p.Met237Ile) c.642G>T (p.Met214Ile) c.633G>T (p.Met211Ile) n.701G>T n.466G>T c.543G>T (p.Met181Ile) n.590G>T c.78G>T (p.Met26Ile) c.*109G>T (n.*109G>T) c.701G>T | |
| 14 | g.87976399C>G | CA390749422 | GALC | c.711G>C (p.Met237Ile) c.642G>C (p.Met214Ile) c.633G>C (p.Met211Ile) n.701G>C n.466G>C c.543G>C (p.Met181Ile) n.590G>C c.78G>C (p.Met26Ile) c.*109G>C (n.*109G>C) c.701G>C | |
| 14 | g.87976399C>T | CA390749424 | GALC | c.711G>A (p.Met237Ile) c.642G>A (p.Met214Ile) c.633G>A (p.Met211Ile) n.701G>A n.466G>A c.543G>A (p.Met181Ile) n.590G>A c.78G>A (p.Met26Ile) c.*109G>A (n.*109G>A) c.701G>A | |
| 14 | g.87976400A= | CA2153381765 | GALC | c.710T= (p.Met237=) c.641T= (p.Met214=) c.632T= (p.Met211=) n.700T= n.465T= c.542T= (p.Met181=) n.589T= c.77T= (p.Met26=) c.*108T= (n.*108T=) c.700T= | |
| 14 | g.87976400A>C | CA390749426 | GALC | c.710T>G (p.Met237Arg) c.641T>G (p.Met214Arg) c.632T>G (p.Met211Arg) n.700T>G n.465T>G c.542T>G (p.Met181Arg) n.589T>G c.77T>G (p.Met26Arg) c.*108T>G (n.*108T>G) c.700T>G | |
| 14 | g.87976400A>G | CA390749428 | GALC | c.710T>C (p.Met237Thr) c.641T>C (p.Met214Thr) c.632T>C (p.Met211Thr) n.700T>C n.465T>C c.542T>C (p.Met181Thr) n.589T>C c.77T>C (p.Met26Thr) c.*108T>C (n.*108T>C) c.700T>C | dbSNP |
| 14 | g.87976400A>T | CA390749430 | GALC | c.710T>A (p.Met237Lys) c.641T>A (p.Met214Lys) c.632T>A (p.Met211Lys) n.700T>A n.465T>A c.542T>A (p.Met181Lys) n.589T>A c.77T>A (p.Met26Lys) c.*108T>A (n.*108T>A) c.700T>A | gnomAD v4 |
| 14 | g.87976401T>A | CA390749432 | GALC | c.709A>T (p.Met237Leu) c.640A>T (p.Met214Leu) c.631A>T (p.Met211Leu) n.699A>T n.464A>T c.541A>T (p.Met181Leu) n.588A>T c.76A>T (p.Met26Leu) c.*107A>T (n.*107A>T) c.699A>T | |
| 14 | g.87976401T>C | CA390749434 | GALC | c.709A>G (p.Met237Val) c.640A>G (p.Met214Val) c.631A>G (p.Met211Val) n.699A>G n.464A>G c.541A>G (p.Met181Val) n.588A>G c.76A>G (p.Met26Val) c.*107A>G (n.*107A>G) c.699A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87976401T>G | CA390749436 | GALC | c.709A>C (p.Met237Leu) c.640A>C (p.Met214Leu) c.631A>C (p.Met211Leu) n.699A>C n.464A>C c.541A>C (p.Met181Leu) n.588A>C c.76A>C (p.Met26Leu) c.*107A>C (n.*107A>C) c.699A>C | |
| 14 | g.87976401T= | CA2153381767 | GALC | c.709A= (p.Met237=) c.640A= (p.Met214=) c.631A= (p.Met211=) n.699A= n.464A= c.541A= (p.Met181=) n.588A= c.76A= (p.Met26=) c.*107A= (n.*107A=) c.699A= | |
| 14 | g.87976401_87976402delinsTG | CA2153381766 | GALC | c.708_709delinsCA (p.Ser236=) c.639_640delinsCA (p.Ser213=) c.630_631delinsCA (p.Ser210=) n.698_699delinsCA n.463_464delinsCA c.540_541delinsCA (p.Ser180=) n.587_588delinsCA c.75_76delinsCA (p.Ser25=) c.*106_*107delinsCA (n.*106_*107delinsCA) c.698_699delinsCA | |
| 14 | g.87976402G>A | CA7297271 | GALC | c.708C>T (p.Ser236=) c.639C>T (p.Ser213=) c.630C>T (p.Ser210=) n.698C>T n.463C>T c.540C>T (p.Ser180=) n.587C>T c.75C>T (p.Ser25=) c.*106C>T (n.*106C>T) c.698C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976402G>C | CA487366247 | GALC | c.708C>G (p.Ser236=) c.639C>G (p.Ser213=) c.630C>G (p.Ser210=) n.698C>G n.463C>G c.540C>G (p.Ser180=) n.587C>G c.75C>G (p.Ser25=) c.*106C>G (n.*106C>G) c.698C>G | |
| 14 | g.87976402G= | CA2153381768 | GALC | c.708C= (p.Ser236=) c.639C= (p.Ser213=) c.630C= (p.Ser210=) n.698C= n.463C= c.540C= (p.Ser180=) n.587C= c.75C= (p.Ser25=) c.*106C= (n.*106C=) c.698C= | |
| 14 | g.87976402G>T | CA487366249 | GALC | c.708C>A (p.Ser236=) c.639C>A (p.Ser213=) c.630C>A (p.Ser210=) n.698C>A n.463C>A c.540C>A (p.Ser180=) n.587C>A c.75C>A (p.Ser25=) c.*106C>A (n.*106C>A) c.698C>A | |
| 14 | g.87976403del | CA615276306 | GALC | c.708del (p.Met237CysfsTer14) c.639del (p.Met214CysfsTer14) c.630del (p.Met211CysfsTer14) n.698del n.463del c.540del (p.Met181CysfsTer14) n.587del c.75del (p.Met26CysfsTer14) c.*106del (n.*106del) c.698del | dbSNP gnomAD v2 |
| 14 | g.87976403G>A | CA7297272 | GALC | c.707C>T (p.Ser236Phe) c.638C>T (p.Ser213Phe) c.629C>T (p.Ser210Phe) n.697C>T n.462C>T c.539C>T (p.Ser180Phe) n.586C>T c.74C>T (p.Ser25Phe) c.*105C>T (n.*105C>T) c.697C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87976403G>C | CA390749440 | GALC | c.707C>G (p.Ser236Cys) c.638C>G (p.Ser213Cys) c.629C>G (p.Ser210Cys) n.697C>G n.462C>G c.539C>G (p.Ser180Cys) n.586C>G c.74C>G (p.Ser25Cys) c.*105C>G (n.*105C>G) c.697C>G | |
| 14 | g.87976403G= | CA2153381769 | GALC | c.707C= (p.Ser236=) c.638C= (p.Ser213=) c.629C= (p.Ser210=) n.697C= n.462C= c.539C= (p.Ser180=) n.586C= c.74C= (p.Ser25=) c.*105C= (n.*105C=) c.697C= | |
| 14 | g.87976403G>T | CA390749441 | GALC | c.707C>A (p.Ser236Tyr) c.638C>A (p.Ser213Tyr) c.629C>A (p.Ser210Tyr) n.697C>A n.462C>A c.539C>A (p.Ser180Tyr) n.586C>A c.74C>A (p.Ser25Tyr) c.*105C>A (n.*105C>A) c.697C>A | COSMIC COSMIC |
| 14 | g.87976404A= | CA2153381770 | GALC | c.706T= (p.Ser236=) c.637T= (p.Ser213=) c.628T= (p.Ser210=) n.696T= n.461T= c.538T= (p.Ser180=) n.585T= c.73T= (p.Ser25=) c.*104T= (n.*104T=) c.696T= | |
| 14 | g.87976404A>C | CA390749445 | GALC | c.706T>G (p.Ser236Ala) c.637T>G (p.Ser213Ala) c.628T>G (p.Ser210Ala) n.696T>G n.461T>G c.538T>G (p.Ser180Ala) n.585T>G c.73T>G (p.Ser25Ala) c.*104T>G (n.*104T>G) c.696T>G | |
| 14 | g.87976404A>G | CA390749446 | GALC | c.706T>C (p.Ser236Pro) c.637T>C (p.Ser213Pro) c.628T>C (p.Ser210Pro) n.696T>C n.461T>C c.538T>C (p.Ser180Pro) n.585T>C c.73T>C (p.Ser25Pro) c.*104T>C (n.*104T>C) c.696T>C | gnomAD v4 |
| 14 | g.87976404A>T | CA390749443 | GALC | c.706T>A (p.Ser236Thr) c.637T>A (p.Ser213Thr) c.628T>A (p.Ser210Thr) n.696T>A n.461T>A c.538T>A (p.Ser180Thr) n.585T>A c.73T>A (p.Ser25Thr) c.*104T>A (n.*104T>A) c.696T>A | |
| 14 | g.87976404_87976405insG | CA615276310 | GALC | c.705_706insC (p.Ser236LeufsTer5) c.636_637insC (p.Ser213LeufsTer5) c.627_628insC (p.Ser210LeufsTer5) n.695_696insC n.460_461insC c.537_538insC (p.Ser180LeufsTer5) n.584_585insC c.72_73insC (p.Ser25LeufsTer5) c.*103_*104insC (n.*103_*104insC) c.695_696insC | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87976405T>A | CA487366252 | GALC | c.705A>T (p.Ala235=) c.636A>T (p.Ala212=) c.627A>T (p.Ala209=) n.695A>T n.460A>T c.537A>T (p.Ala179=) n.584A>T c.72A>T (p.Ala24=) c.*103A>T (n.*103A>T) c.695A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87976405T>C | CA7297273 | GALC | c.705A>G (p.Ala235=) c.636A>G (p.Ala212=) c.627A>G (p.Ala209=) n.695A>G n.460A>G c.537A>G (p.Ala179=) n.584A>G c.72A>G (p.Ala24=) c.*103A>G (n.*103A>G) c.695A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976405T>G | CA487366253 | GALC | c.705A>C (p.Ala235=) c.636A>C (p.Ala212=) c.627A>C (p.Ala209=) n.695A>C n.460A>C c.537A>C (p.Ala179=) n.584A>C c.72A>C (p.Ala24=) c.*103A>C (n.*103A>C) c.695A>C | |
| 14 | g.87976405T= | CA2153381771 | GALC | c.705A= (p.Ala235=) c.636A= (p.Ala212=) c.627A= (p.Ala209=) n.695A= n.460A= c.537A= (p.Ala179=) n.584A= c.72A= (p.Ala24=) c.*103A= (n.*103A=) c.695A= | |
| 14 | g.87976406G>A | CA264708308 | GALC | c.704C>T (p.Ala235Val) c.635C>T (p.Ala212Val) c.626C>T (p.Ala209Val) n.694C>T n.459C>T c.536C>T (p.Ala179Val) n.583C>T c.71C>T (p.Ala24Val) c.*102C>T (n.*102C>T) c.694C>T | dbSNP gnomAD v4 |
| 14 | g.87976406G>C | CA390749452 | GALC | c.704C>G (p.Ala235Gly) c.635C>G (p.Ala212Gly) c.626C>G (p.Ala209Gly) n.694C>G n.459C>G c.536C>G (p.Ala179Gly) n.583C>G c.71C>G (p.Ala24Gly) c.*102C>G (n.*102C>G) c.694C>G | |
| 14 | g.87976406G= | CA2153381772 | GALC | c.704C= (p.Ala235=) c.635C= (p.Ala212=) c.626C= (p.Ala209=) n.694C= n.459C= c.536C= (p.Ala179=) n.583C= c.71C= (p.Ala24=) c.*102C= (n.*102C=) c.694C= | |
| 14 | g.87976406G>T | CA390749450 | GALC | c.704C>A (p.Ala235Glu) c.635C>A (p.Ala212Glu) c.626C>A (p.Ala209Glu) n.694C>A n.459C>A c.536C>A (p.Ala179Glu) n.583C>A c.71C>A (p.Ala24Glu) c.*102C>A (n.*102C>A) c.694C>A | |
| 14 | g.87976407C>A | CA390749453 | GALC | c.703G>T (p.Ala235Ser) c.634G>T (p.Ala212Ser) c.625G>T (p.Ala209Ser) n.693G>T n.458G>T c.535G>T (p.Ala179Ser) n.582G>T c.70G>T (p.Ala24Ser) c.*101G>T (n.*101G>T) c.693G>T | |
| 14 | g.87976407C>G | CA390749454 | GALC | c.703G>C (p.Ala235Pro) c.634G>C (p.Ala212Pro) c.625G>C (p.Ala209Pro) n.693G>C n.458G>C c.535G>C (p.Ala179Pro) n.582G>C c.70G>C (p.Ala24Pro) c.*101G>C (n.*101G>C) c.693G>C | |
| 14 | g.87976407C>T | CA390749455 | GALC | c.703G>A (p.Ala235Thr) c.634G>A (p.Ala212Thr) c.625G>A (p.Ala209Thr) n.693G>A n.458G>A c.535G>A (p.Ala179Thr) n.582G>A c.70G>A (p.Ala24Thr) c.*101G>A (n.*101G>A) c.693G>A | |
| 14 | g.87976408A>C | CA487366257 | GALC | c.702T>G (p.Ser234=) c.633T>G (p.Ser211=) c.624T>G (p.Ser208=) n.692T>G n.457T>G c.534T>G (p.Ser178=) n.581T>G c.69T>G (p.Ser23=) c.*100T>G (n.*100T>G) c.692T>G | |
| 14 | g.87976408A>G | CA487366258 | GALC | c.702T>C (p.Ser234=) c.633T>C (p.Ser211=) c.624T>C (p.Ser208=) n.692T>C n.457T>C c.534T>C (p.Ser178=) n.581T>C c.69T>C (p.Ser23=) c.*100T>C (n.*100T>C) c.692T>C | |
| 14 | g.87976408A>T | CA487366259 | GALC | c.702T>A (p.Ser234=) c.633T>A (p.Ser211=) c.624T>A (p.Ser208=) n.692T>A n.457T>A c.534T>A (p.Ser178=) n.581T>A c.69T>A (p.Ser23=) c.*100T>A (n.*100T>A) c.692T>A | |
| 14 | g.87976409G>A | CA390749456 | GALC | c.701C>T (p.Ser234Phe) c.632C>T (p.Ser211Phe) c.623C>T (p.Ser208Phe) n.691C>T n.456C>T c.533C>T (p.Ser178Phe) n.580C>T c.68C>T (p.Ser23Phe) c.*99C>T (n.*99C>T) c.691C>T | |
| 14 | g.87976409G>C | CA7297274 | GALC | c.701C>G (p.Ser234Cys) c.632C>G (p.Ser211Cys) c.623C>G (p.Ser208Cys) n.691C>G n.456C>G c.533C>G (p.Ser178Cys) n.580C>G c.68C>G (p.Ser23Cys) c.*99C>G (n.*99C>G) c.691C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87976409G= | CA2153381773 | GALC | c.701C= (p.Ser234=) c.632C= (p.Ser211=) c.623C= (p.Ser208=) n.691C= n.456C= c.533C= (p.Ser178=) n.580C= c.68C= (p.Ser23=) c.*99C= (n.*99C=) c.691C= | |
| 14 | g.87976409G>T | CA390749457 | GALC | c.701C>A (p.Ser234Tyr) c.632C>A (p.Ser211Tyr) c.623C>A (p.Ser208Tyr) n.691C>A n.456C>A c.533C>A (p.Ser178Tyr) n.580C>A c.68C>A (p.Ser23Tyr) c.*99C>A (n.*99C>A) c.691C>A | |
| 14 | g.87976410A>C | CA390749459 | GALC | c.700T>G (p.Ser234Ala) c.631T>G (p.Ser211Ala) c.622T>G (p.Ser208Ala) n.690T>G n.455T>G c.532T>G (p.Ser178Ala) n.579T>G c.67T>G (p.Ser23Ala) c.*98T>G (n.*98T>G) c.690T>G | |
| 14 | g.87976410A>G | CA390749460 | GALC | c.700T>C (p.Ser234Pro) c.631T>C (p.Ser211Pro) c.622T>C (p.Ser208Pro) n.690T>C n.455T>C c.532T>C (p.Ser178Pro) n.579T>C c.67T>C (p.Ser23Pro) c.*98T>C (n.*98T>C) c.690T>C | gnomAD v4 |
| 14 | g.87976410A>T | CA390749463 | GALC | c.700T>A (p.Ser234Thr) c.631T>A (p.Ser211Thr) c.622T>A (p.Ser208Thr) n.690T>A n.455T>A c.532T>A (p.Ser178Thr) n.579T>A c.67T>A (p.Ser23Thr) c.*98T>A (n.*98T>A) c.690T>A | |
| 14 | g.87976411G>A | CA487366261 | GALC | c.699C>T (p.Ile233=) c.630C>T (p.Ile210=) c.621C>T (p.Ile207=) n.689C>T n.454C>T c.531C>T (p.Ile177=) n.578C>T c.66C>T (p.Ile22=) c.*97C>T (n.*97C>T) c.689C>T | |
| 14 | g.87976411G>C | CA390749465 | GALC | c.699C>G (p.Ile233Met) c.630C>G (p.Ile210Met) c.621C>G (p.Ile207Met) n.689C>G n.454C>G c.531C>G (p.Ile177Met) n.578C>G c.66C>G (p.Ile22Met) c.*97C>G (n.*97C>G) c.689C>G | |
| 14 | g.87976411G>T | CA487366262 | GALC | c.699C>A (p.Ile233=) c.630C>A (p.Ile210=) c.621C>A (p.Ile207=) n.689C>A n.454C>A c.531C>A (p.Ile177=) n.578C>A c.66C>A (p.Ile22=) c.*97C>A (n.*97C>A) c.689C>A | |
| 14 | g.87976412A>C | CA390749468 | GALC | c.698T>G (p.Ile233Ser) c.629T>G (p.Ile210Ser) c.620T>G (p.Ile207Ser) n.688T>G n.453T>G c.530T>G (p.Ile177Ser) n.577T>G c.65T>G (p.Ile22Ser) c.*96T>G (n.*96T>G) c.688T>G | |
| 14 | g.87976412A>G | CA390749470 | GALC | c.698T>C (p.Ile233Thr) c.629T>C (p.Ile210Thr) c.620T>C (p.Ile207Thr) n.688T>C n.453T>C c.530T>C (p.Ile177Thr) n.577T>C c.65T>C (p.Ile22Thr) c.*96T>C (n.*96T>C) c.688T>C | |
| 14 | g.87976412A>T | CA390749473 | GALC | c.698T>A (p.Ile233Asn) c.629T>A (p.Ile210Asn) c.620T>A (p.Ile207Asn) n.688T>A n.453T>A c.530T>A (p.Ile177Asn) n.577T>A c.65T>A (p.Ile22Asn) c.*96T>A (n.*96T>A) c.688T>A | |
| 14 | g.87976413T>A | CA390749480 | GALC | c.697A>T (p.Ile233Phe) c.628A>T (p.Ile210Phe) c.619A>T (p.Ile207Phe) n.687A>T n.452A>T c.529A>T (p.Ile177Phe) n.576A>T c.64A>T (p.Ile22Phe) c.*95A>T (n.*95A>T) c.687A>T | |
| 14 | g.87976413T>C | CA390749476 | GALC | c.697A>G (p.Ile233Val) c.628A>G (p.Ile210Val) c.619A>G (p.Ile207Val) n.687A>G n.452A>G c.529A>G (p.Ile177Val) n.576A>G c.64A>G (p.Ile22Val) c.*95A>G (n.*95A>G) c.687A>G | dbSNP gnomAD v4 |
| 14 | g.87976413T>G | CA390749478 | GALC | c.697A>C (p.Ile233Leu) c.628A>C (p.Ile210Leu) c.619A>C (p.Ile207Leu) n.687A>C n.452A>C c.529A>C (p.Ile177Leu) n.576A>C c.64A>C (p.Ile22Leu) c.*95A>C (n.*95A>C) c.687A>C | |
| 14 | g.87976414G>A | CA487366264 | GALC | c.696C>T (p.Ser232=) c.627C>T (p.Ser209=) c.618C>T (p.Ser206=) n.686C>T n.451C>T c.528C>T (p.Ser176=) n.575C>T c.63C>T (p.Ser21=) c.*94C>T (n.*94C>T) c.686C>T | ClinVar COSMIC |
| 14 | g.87976414G>C | CA487366265 | GALC | c.696C>G (p.Ser232=) c.627C>G (p.Ser209=) c.618C>G (p.Ser206=) n.686C>G n.451C>G c.528C>G (p.Ser176=) n.575C>G c.63C>G (p.Ser21=) c.*94C>G (n.*94C>G) c.686C>G | |
| 14 | g.87976414G>T | CA487366266 | GALC | c.696C>A (p.Ser232=) c.627C>A (p.Ser209=) c.618C>A (p.Ser206=) n.686C>A n.451C>A c.528C>A (p.Ser176=) n.575C>A c.63C>A (p.Ser21=) c.*94C>A (n.*94C>A) c.686C>A | |
| 14 | g.87976415G>A | CA390749487 | GALC | c.695C>T (p.Ser232Phe) c.626C>T (p.Ser209Phe) c.617C>T (p.Ser206Phe) n.685C>T n.450C>T c.527C>T (p.Ser176Phe) n.574C>T c.62C>T (p.Ser21Phe) c.*93C>T (n.*93C>T) c.685C>T | gnomAD v4 COSMIC |
| 14 | g.87976415G>C | CA390749496 | GALC | c.695C>G (p.Ser232Cys) c.626C>G (p.Ser209Cys) c.617C>G (p.Ser206Cys) n.685C>G n.450C>G c.527C>G (p.Ser176Cys) n.574C>G c.62C>G (p.Ser21Cys) c.*93C>G (n.*93C>G) c.685C>G | ClinVar |
| 14 | g.87976415G>T | CA390749498 | GALC | c.695C>A (p.Ser232Tyr) c.626C>A (p.Ser209Tyr) c.617C>A (p.Ser206Tyr) n.685C>A n.450C>A c.527C>A (p.Ser176Tyr) n.574C>A c.62C>A (p.Ser21Tyr) c.*93C>A (n.*93C>A) c.685C>A | |
| 14 | g.87976415_87976422delinsGACTCCCA | CA2153381774 | GALC | c.688_695delinsTGGGAGTC (p.Trp230=) c.619_626delinsTGGGAGTC (p.Trp207=) c.610_617delinsTGGGAGTC (p.Trp204=) n.678_685delinsTGGGAGTC n.443_450delinsTGGGAGTC c.520_527delinsTGGGAGTC (p.Trp174=) n.567_574delinsTGGGAGTC c.55_62delinsTGGGAGTC (p.Trp19=) c.*86_*93delinsTGGGAGTC (n.*86_*93delinsTGGGAGTC) c.678_685delinsTGGGAGTC | |
| 14 | g.87976415_87976424delinsGACTCCCAGA | CA2153381775 | GALC | c.686_695delinsTCTGGGAGTC (p.Leu229=) c.617_626delinsTCTGGGAGTC (p.Leu206=) c.608_617delinsTCTGGGAGTC (p.Leu203=) n.676_685delinsTCTGGGAGTC n.441_450delinsTCTGGGAGTC c.518_527delinsTCTGGGAGTC (p.Leu173=) n.565_574delinsTCTGGGAGTC c.53_62delinsTCTGGGAGTC (p.Leu18=) c.*84_*93delinsTCTGGGAGTC (n.*84_*93delinsTCTGGGAGTC) c.676_685delinsTCTGGGAGTC | |
| 14 | g.87976416A>C | CA390749500 | GALC | c.694T>G (p.Ser232Ala) c.625T>G (p.Ser209Ala) c.616T>G (p.Ser206Ala) n.684T>G n.449T>G c.526T>G (p.Ser176Ala) n.573T>G c.61T>G (p.Ser21Ala) c.*92T>G (n.*92T>G) c.684T>G | |
| 14 | g.87976416A>G | CA390749503 | GALC | c.694T>C (p.Ser232Pro) c.625T>C (p.Ser209Pro) c.616T>C (p.Ser206Pro) n.684T>C n.449T>C c.526T>C (p.Ser176Pro) n.573T>C c.61T>C (p.Ser21Pro) c.*92T>C (n.*92T>C) c.684T>C | |
| 14 | g.87976416A>T | CA390749504 | GALC | c.694T>A (p.Ser232Thr) c.625T>A (p.Ser209Thr) c.616T>A (p.Ser206Thr) n.684T>A n.449T>A c.526T>A (p.Ser176Thr) n.573T>A c.61T>A (p.Ser21Thr) c.*92T>A (n.*92T>A) c.684T>A | |
| 14 | g.87976416_87976422del | CA7297275 | GALC | c.688_694del (p.Trp230ProfsTer19) c.619_625del (p.Trp207ProfsTer19) c.610_616del (p.Trp204ProfsTer19) n.678_684del n.443_449del c.520_526del (p.Trp174ProfsTer19) n.567_573del c.55_61del (p.Trp19ProfsTer19) c.*86_*92del (n.*86_*92del) c.678_684del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87976416_87976424del | CA2153381776 | GALC | c.686_694del (p.Leu229_Ser232delinsPro) c.617_625del (p.Leu206_Ser209delinsPro) c.608_616del (p.Leu203_Ser206delinsPro) n.676_684del n.441_449del c.518_526del (p.Leu173_Ser176delinsPro) n.565_573del c.53_61del (p.Leu18_Ser21delinsPro) c.*84_*92del (n.*84_*92del) c.676_684del | dbSNP |
| 14 | g.87976416_87976427delinsGAG | CA2573053949 | GALC | c.683_694delinsCTC (p.Asn228_Ser232delinsThrPro) c.614_625delinsCTC (p.Asn205_Ser209delinsThrPro) c.605_616delinsCTC (p.Asn202_Ser206delinsThrPro) n.673_684delinsCTC n.438_449delinsCTC c.515_526delinsCTC (p.Asn172_Ser176delinsThrPro) n.562_573delinsCTC c.50_61delinsCTC (p.Asn17_Ser21delinsThrPro) c.*81_*92delinsCTC (n.*81_*92delinsCTC) c.673_684delinsCTC | ClinVar dbSNP |
| 14 | g.87976417C>A | CA7297276 | GALC | c.693G>T (p.Glu231Asp) c.624G>T (p.Glu208Asp) c.615G>T (p.Glu205Asp) n.683G>T n.448G>T c.525G>T (p.Glu175Asp) n.572G>T c.60G>T (p.Glu20Asp) c.*91G>T (n.*91G>T) c.683G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976417C= | CA2153381777 | GALC | c.693G= (p.Glu231=) c.624G= (p.Glu208=) c.615G= (p.Glu205=) n.683G= n.448G= c.525G= (p.Glu175=) n.572G= c.60G= (p.Glu20=) c.*91G= (n.*91G=) c.683G= | |
| 14 | g.87976417C>G | CA264708332 | GALC | c.693G>C (p.Glu231Asp) c.624G>C (p.Glu208Asp) c.615G>C (p.Glu205Asp) n.683G>C n.448G>C c.525G>C (p.Glu175Asp) n.572G>C c.60G>C (p.Glu20Asp) c.*91G>C (n.*91G>C) c.683G>C | ClinVar dbSNP |
| 14 | g.87976417C>T | CA487366268 | GALC | c.693G>A (p.Glu231=) c.624G>A (p.Glu208=) c.615G>A (p.Glu205=) n.683G>A n.448G>A c.525G>A (p.Glu175=) n.572G>A c.60G>A (p.Glu20=) c.*91G>A (n.*91G>A) c.683G>A | |
| 14 | g.87976418T>A | CA390749517 | GALC | c.692A>T (p.Glu231Val) c.623A>T (p.Glu208Val) c.614A>T (p.Glu205Val) n.682A>T n.447A>T c.524A>T (p.Glu175Val) n.571A>T c.59A>T (p.Glu20Val) c.*90A>T (n.*90A>T) c.682A>T | |
| 14 | g.87976418T>C | CA390749520 | GALC | c.692A>G (p.Glu231Gly) c.623A>G (p.Glu208Gly) c.614A>G (p.Glu205Gly) n.682A>G n.447A>G c.524A>G (p.Glu175Gly) n.571A>G c.59A>G (p.Glu20Gly) c.*90A>G (n.*90A>G) c.682A>G | |
| 14 | g.87976418T>G | CA390749521 | GALC | c.692A>C (p.Glu231Ala) c.623A>C (p.Glu208Ala) c.614A>C (p.Glu205Ala) n.682A>C n.447A>C c.524A>C (p.Glu175Ala) n.571A>C c.59A>C (p.Glu20Ala) c.*90A>C (n.*90A>C) c.682A>C | |
| 14 | g.87976419C>A | CA390749522 | GALC | c.691G>T (p.Glu231Ter) c.622G>T (p.Glu208Ter) c.613G>T (p.Glu205Ter) n.681G>T n.446G>T c.523G>T (p.Glu175Ter) n.570G>T c.58G>T (p.Glu20Ter) c.*89G>T (n.*89G>T) c.681G>T | |
| 14 | g.87976419C= | CA2153381778 | GALC | c.691G= (p.Glu231=) c.622G= (p.Glu208=) c.613G= (p.Glu205=) n.681G= n.446G= c.523G= (p.Glu175=) n.570G= c.58G= (p.Glu20=) c.*89G= (n.*89G=) c.681G= | |
| 14 | g.87976419C>G | CA390749523 | GALC | c.691G>C (p.Glu231Gln) c.622G>C (p.Glu208Gln) c.613G>C (p.Glu205Gln) n.681G>C n.446G>C c.523G>C (p.Glu175Gln) n.570G>C c.58G>C (p.Glu20Gln) c.*89G>C (n.*89G>C) c.681G>C | |
| 14 | g.87976419C>T | CA7297277 | GALC | c.691G>A (p.Glu231Lys) c.622G>A (p.Glu208Lys) c.613G>A (p.Glu205Lys) n.681G>A n.446G>A c.523G>A (p.Glu175Lys) n.570G>A c.58G>A (p.Glu20Lys) c.*89G>A (n.*89G>A) c.681G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976421del | CA2625960319 | GALC | c.691del (p.Glu231SerfsTer20) c.622del (p.Glu208SerfsTer20) c.613del (p.Glu205SerfsTer20) n.681del n.446del c.523del (p.Glu175SerfsTer20) n.570del c.58del (p.Glu20SerfsTer20) c.*89del (n.*89del) c.681del | ClinVar gnomAD v4 |
| 14 | g.87976420C>A | CA390749524 | GALC | c.690G>T (p.Trp230Cys) c.621G>T (p.Trp207Cys) c.612G>T (p.Trp204Cys) n.680G>T n.445G>T c.522G>T (p.Trp174Cys) n.569G>T c.57G>T (p.Trp19Cys) c.*88G>T (n.*88G>T) c.680G>T | |
| 14 | g.87976420C>G | CA390749525 | GALC | c.690G>C (p.Trp230Cys) c.621G>C (p.Trp207Cys) c.612G>C (p.Trp204Cys) n.680G>C n.445G>C c.522G>C (p.Trp174Cys) n.569G>C c.57G>C (p.Trp19Cys) c.*88G>C (n.*88G>C) c.680G>C | gnomAD v4 |
| 14 | g.87976420C>T | CA390749526 | GALC | c.690G>A (p.Trp230Ter) c.621G>A (p.Trp207Ter) c.612G>A (p.Trp204Ter) n.680G>A n.445G>A c.522G>A (p.Trp174Ter) n.569G>A c.57G>A (p.Trp19Ter) c.*88G>A (n.*88G>A) c.680G>A | |
| 14 | g.87976421C>A | CA390749527 | GALC | c.689G>T (p.Trp230Leu) c.620G>T (p.Trp207Leu) c.611G>T (p.Trp204Leu) n.679G>T n.444G>T c.521G>T (p.Trp174Leu) n.568G>T c.56G>T (p.Trp19Leu) c.*87G>T (n.*87G>T) c.679G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87976421C= | CA2153381779 | GALC | c.689G= (p.Trp230=) c.620G= (p.Trp207=) c.611G= (p.Trp204=) n.679G= n.444G= c.521G= (p.Trp174=) n.568G= c.56G= (p.Trp19=) c.*87G= (n.*87G=) c.679G= | |
| 14 | g.87976421C>G | CA390749528 | GALC | c.689G>C (p.Trp230Ser) c.620G>C (p.Trp207Ser) c.611G>C (p.Trp204Ser) n.679G>C n.444G>C c.521G>C (p.Trp174Ser) n.568G>C c.56G>C (p.Trp19Ser) c.*87G>C (n.*87G>C) c.679G>C | |
| 14 | g.87976421C>T | CA390749529 | GALC | c.689G>A (p.Trp230Ter) c.620G>A (p.Trp207Ter) c.611G>A (p.Trp204Ter) n.679G>A n.444G>A c.521G>A (p.Trp174Ter) n.568G>A c.56G>A (p.Trp19Ter) c.*87G>A (n.*87G>A) c.679G>A | |
| 14 | g.87976422A>C | CA390749530 | GALC | c.688T>G (p.Trp230Gly) c.619T>G (p.Trp207Gly) c.610T>G (p.Trp204Gly) n.678T>G n.443T>G c.520T>G (p.Trp174Gly) n.567T>G c.55T>G (p.Trp19Gly) c.*86T>G (n.*86T>G) c.678T>G | |
| 14 | g.87976422A>G | CA390749531 | GALC | c.688T>C (p.Trp230Arg) c.619T>C (p.Trp207Arg) c.610T>C (p.Trp204Arg) n.678T>C n.443T>C c.520T>C (p.Trp174Arg) n.567T>C c.55T>C (p.Trp19Arg) c.*86T>C (n.*86T>C) c.678T>C | |
| 14 | g.87976422A>T | CA390749533 | GALC | c.688T>A (p.Trp230Arg) c.619T>A (p.Trp207Arg) c.610T>A (p.Trp204Arg) n.678T>A n.443T>A c.520T>A (p.Trp174Arg) n.567T>A c.55T>A (p.Trp19Arg) c.*86T>A (n.*86T>A) c.678T>A | |
| 14 | g.87976422_87976435del | CA2625960320 | GALC | c.675_688del (p.Ser226GlyfsTer10) c.606_619del (p.Ser203GlyfsTer10) c.597_610del (p.Ser200GlyfsTer10) n.665_678del n.430_443del c.507_520del (p.Ser170GlyfsTer10) n.554_567del c.42_55del (p.Ser15GlyfsTer10) c.*73_*86del (n.*73_*86del) c.665_678del | gnomAD v4 |
| 14 | g.87976423G>A | CA487366272 | GALC | c.687C>T (p.Leu229=) c.618C>T (p.Leu206=) c.609C>T (p.Leu203=) n.677C>T n.442C>T c.519C>T (p.Leu173=) n.566C>T c.54C>T (p.Leu18=) c.*85C>T (n.*85C>T) c.677C>T | dbSNP |
| 14 | g.87976423G>C | CA487366273 | GALC | c.687C>G (p.Leu229=) c.618C>G (p.Leu206=) c.609C>G (p.Leu203=) n.677C>G n.442C>G c.519C>G (p.Leu173=) n.566C>G c.54C>G (p.Leu18=) c.*85C>G (n.*85C>G) c.677C>G | |
| 14 | g.87976423G= | CA2153381780 | GALC | c.687C= (p.Leu229=) c.618C= (p.Leu206=) c.609C= (p.Leu203=) n.677C= n.442C= c.519C= (p.Leu173=) n.566C= c.54C= (p.Leu18=) c.*85C= (n.*85C=) c.677C= | |
| 14 | g.87976423G>T | CA487366271 | GALC | c.687C>A (p.Leu229=) c.618C>A (p.Leu206=) c.609C>A (p.Leu203=) n.677C>A n.442C>A c.519C>A (p.Leu173=) n.566C>A c.54C>A (p.Leu18=) c.*85C>A (n.*85C>A) c.677C>A | |
| 14 | g.87976424A= | CA2153381781 | GALC | c.686T= (p.Leu229=) c.617T= (p.Leu206=) c.608T= (p.Leu203=) n.676T= n.441T= c.518T= (p.Leu173=) n.565T= c.53T= (p.Leu18=) c.*84T= (n.*84T=) c.676T= | |
| 14 | g.87976424A>C | CA390749535 | GALC | c.686T>G (p.Leu229Arg) c.617T>G (p.Leu206Arg) c.608T>G (p.Leu203Arg) n.676T>G n.441T>G c.518T>G (p.Leu173Arg) n.565T>G c.53T>G (p.Leu18Arg) c.*84T>G (n.*84T>G) c.676T>G | |
| 14 | g.87976424A>G | CA390749537 | GALC | c.686T>C (p.Leu229Pro) c.617T>C (p.Leu206Pro) c.608T>C (p.Leu203Pro) n.676T>C n.441T>C c.518T>C (p.Leu173Pro) n.565T>C c.53T>C (p.Leu18Pro) c.*84T>C (n.*84T>C) c.676T>C | dbSNP |
| 14 | g.87976424A>T | CA390749538 | GALC | c.686T>A (p.Leu229His) c.617T>A (p.Leu206His) c.608T>A (p.Leu203His) n.676T>A n.441T>A c.518T>A (p.Leu173His) n.565T>A c.53T>A (p.Leu18His) c.*84T>A (n.*84T>A) c.676T>A | |
| 14 | g.87976425G>A | CA390749541 | GALC | c.685C>T (p.Leu229Phe) c.616C>T (p.Leu206Phe) c.607C>T (p.Leu203Phe) n.675C>T n.440C>T c.517C>T (p.Leu173Phe) n.564C>T c.52C>T (p.Leu18Phe) c.*83C>T (n.*83C>T) c.675C>T | |
| 14 | g.87976425G>C | CA390749539 | GALC | c.685C>G (p.Leu229Val) c.616C>G (p.Leu206Val) c.607C>G (p.Leu203Val) n.675C>G n.440C>G c.517C>G (p.Leu173Val) n.564C>G c.52C>G (p.Leu18Val) c.*83C>G (n.*83C>G) c.675C>G | |
| 14 | g.87976425G= | CA2153381783 | GALC | c.685C= (p.Leu229=) c.616C= (p.Leu206=) c.607C= (p.Leu203=) n.675C= n.440C= c.517C= (p.Leu173=) n.564C= c.52C= (p.Leu18=) c.*83C= (n.*83C=) c.675C= | |
| 14 | g.87976425G>T | CA390749540 | GALC | c.685C>A (p.Leu229Ile) c.616C>A (p.Leu206Ile) c.607C>A (p.Leu203Ile) n.675C>A n.440C>A c.517C>A (p.Leu173Ile) n.564C>A c.52C>A (p.Leu18Ile) c.*83C>A (n.*83C>A) c.675C>A | dbSNP |
| 14 | g.87976425_87976427delinsGAT | CA2153381782 | GALC | c.683_685delinsATC (p.Asn228=) c.614_616delinsATC (p.Asn205=) c.605_607delinsATC (p.Asn202=) n.673_675delinsATC n.438_440delinsATC c.515_517delinsATC (p.Asn172=) n.562_564delinsATC c.50_52delinsATC (p.Asn17=) c.*81_*83delinsATC (n.*81_*83delinsATC) c.673_675delinsATC | |
| 14 | g.87976426A>C | CA390749542 | GALC | c.684T>G (p.Asn228Lys) c.615T>G (p.Asn205Lys) c.606T>G (p.Asn202Lys) n.674T>G n.439T>G c.516T>G (p.Asn172Lys) n.563T>G c.51T>G (p.Asn17Lys) c.*82T>G (n.*82T>G) c.674T>G | |
| 14 | g.87976426A>G | CA487366275 | GALC | c.684T>C (p.Asn228=) c.615T>C (p.Asn205=) c.606T>C (p.Asn202=) n.674T>C n.439T>C c.516T>C (p.Asn172=) n.563T>C c.51T>C (p.Asn17=) c.*82T>C (n.*82T>C) c.674T>C | gnomAD v4 |
| 14 | g.87976426A>T | CA390749544 | GALC | c.684T>A (p.Asn228Lys) c.615T>A (p.Asn205Lys) c.606T>A (p.Asn202Lys) n.674T>A n.439T>A c.516T>A (p.Asn172Lys) n.563T>A c.51T>A (p.Asn17Lys) c.*82T>A (n.*82T>A) c.674T>A | |
| 14 | g.87976426_87976427del | CA7297278 | GALC | c.683_684del (p.Asn228ThrfsTer12) c.614_615del (p.Asn205ThrfsTer12) c.605_606del (p.Asn202ThrfsTer12) n.673_674del n.438_439del c.515_516del (p.Asn172ThrfsTer12) n.562_563del c.50_51del (p.Asn17ThrfsTer12) c.*81_*82del (n.*81_*82del) c.673_674del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87976427T>A | CA390749545 | GALC | c.683A>T (p.Asn228Ile) c.614A>T (p.Asn205Ile) c.605A>T (p.Asn202Ile) n.673A>T n.438A>T c.515A>T (p.Asn172Ile) n.562A>T c.50A>T (p.Asn17Ile) c.*81A>T (n.*81A>T) c.673A>T | |
| 14 | g.87976427T>C | CA390749546 | GALC | c.683A>G (p.Asn228Ser) c.614A>G (p.Asn205Ser) c.605A>G (p.Asn202Ser) n.673A>G n.438A>G c.515A>G (p.Asn172Ser) n.562A>G c.50A>G (p.Asn17Ser) c.*81A>G (n.*81A>G) c.673A>G | |
| 14 | g.87976427T>G | CA390749547 | GALC | c.683A>C (p.Asn228Thr) c.614A>C (p.Asn205Thr) c.605A>C (p.Asn202Thr) n.673A>C n.438A>C c.515A>C (p.Asn172Thr) n.562A>C c.50A>C (p.Asn17Thr) c.*81A>C (n.*81A>C) c.673A>C | dbSNP |
| 14 | g.87976427T= | CA2153381784 | GALC | c.683A= (p.Asn228=) c.614A= (p.Asn205=) c.605A= (p.Asn202=) n.673A= n.438A= c.515A= (p.Asn172=) n.562A= c.50A= (p.Asn17=) c.*81A= (n.*81A=) c.673A= | |
| 14 | g.87976428T>A | CA390749548 | GALC | c.682A>T (p.Asn228Tyr) c.613A>T (p.Asn205Tyr) c.604A>T (p.Asn202Tyr) n.672A>T n.437A>T c.514A>T (p.Asn172Tyr) n.561A>T c.49A>T (p.Asn17Tyr) c.*80A>T (n.*80A>T) c.672A>T | |
| 14 | g.87976428T>C | CA390749549 | GALC | c.682A>G (p.Asn228Asp) c.613A>G (p.Asn205Asp) c.604A>G (p.Asn202Asp) n.672A>G n.437A>G c.514A>G (p.Asn172Asp) n.561A>G c.49A>G (p.Asn17Asp) c.*80A>G (n.*80A>G) c.672A>G | ClinVar dbSNP |
| 14 | g.87976428T>G | CA390749550 | GALC | c.682A>C (p.Asn228His) c.613A>C (p.Asn205His) c.604A>C (p.Asn202His) n.672A>C n.437A>C c.514A>C (p.Asn172His) n.561A>C c.49A>C (p.Asn17His) c.*80A>C (n.*80A>C) c.672A>C | |
| 14 | g.87976429A>C | CA390749553 | GALC | c.681T>G (p.Asp227Glu) c.612T>G (p.Asp204Glu) c.603T>G (p.Asp201Glu) n.671T>G n.436T>G c.513T>G (p.Asp171Glu) n.560T>G c.48T>G (p.Asp16Glu) c.*79T>G (n.*79T>G) c.671T>G | |
| 14 | g.87976429A>G | CA487366278 | GALC | c.681T>C (p.Asp227=) c.612T>C (p.Asp204=) c.603T>C (p.Asp201=) n.671T>C n.436T>C c.513T>C (p.Asp171=) n.560T>C c.48T>C (p.Asp16=) c.*79T>C (n.*79T>C) c.671T>C | |
| 14 | g.87976429A>T | CA390749555 | GALC | c.681T>A (p.Asp227Glu) c.612T>A (p.Asp204Glu) c.603T>A (p.Asp201Glu) n.671T>A n.436T>A c.513T>A (p.Asp171Glu) n.560T>A c.48T>A (p.Asp16Glu) c.*79T>A (n.*79T>A) c.671T>A | |
| 14 | g.87976430T>A | CA390749560 | GALC | c.680A>T (p.Asp227Val) c.611A>T (p.Asp204Val) c.602A>T (p.Asp201Val) n.670A>T n.435A>T c.512A>T (p.Asp171Val) n.559A>T c.47A>T (p.Asp16Val) c.*78A>T (n.*78A>T) c.670A>T | |
| 14 | g.87976430T>C | CA390749561 | GALC | c.680A>G (p.Asp227Gly) c.611A>G (p.Asp204Gly) c.602A>G (p.Asp201Gly) n.670A>G n.435A>G c.512A>G (p.Asp171Gly) n.559A>G c.47A>G (p.Asp16Gly) c.*78A>G (n.*78A>G) c.670A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.87976430T>G | CA390749557 | GALC | c.680A>C (p.Asp227Ala) c.611A>C (p.Asp204Ala) c.602A>C (p.Asp201Ala) n.670A>C n.435A>C c.512A>C (p.Asp171Ala) n.559A>C c.47A>C (p.Asp16Ala) c.*78A>C (n.*78A>C) c.670A>C | |
| 14 | g.87976430T= | CA2153381785 | GALC | c.680A= (p.Asp227=) c.611A= (p.Asp204=) c.602A= (p.Asp201=) n.670A= n.435A= c.512A= (p.Asp171=) n.559A= c.47A= (p.Asp16=) c.*78A= (n.*78A=) c.670A= | |
| 14 | g.87976431C>A | CA390749571 | GALC | c.679G>T (p.Asp227Tyr) c.610G>T (p.Asp204Tyr) c.601G>T (p.Asp201Tyr) n.669G>T n.434G>T c.511G>T (p.Asp171Tyr) n.558G>T c.46G>T (p.Asp16Tyr) c.*77G>T (n.*77G>T) c.669G>T | |
| 14 | g.87976431C>G | CA390749564 | GALC | c.679G>C (p.Asp227His) c.610G>C (p.Asp204His) c.601G>C (p.Asp201His) n.669G>C n.434G>C c.511G>C (p.Asp171His) n.558G>C c.46G>C (p.Asp16His) c.*77G>C (n.*77G>C) c.669G>C | ClinVar |
| 14 | g.87976431C>T | CA390749570 | GALC | c.679G>A (p.Asp227Asn) c.610G>A (p.Asp204Asn) c.601G>A (p.Asp201Asn) n.669G>A n.434G>A c.511G>A (p.Asp171Asn) n.558G>A c.46G>A (p.Asp16Asn) c.*77G>A (n.*77G>A) c.669G>A | |
| 14 | g.87976432A= | CA2153381786 | GALC | c.678T= (p.Ser226=) c.609T= (p.Ser203=) c.600T= (p.Ser200=) n.668T= n.433T= c.510T= (p.Ser170=) n.557T= c.45T= (p.Ser15=) c.*76T= (n.*76T=) c.668T= | |
| 14 | g.87976432A>C | CA390749577 | GALC | c.678T>G (p.Ser226Arg) c.609T>G (p.Ser203Arg) c.600T>G (p.Ser200Arg) n.668T>G n.433T>G c.510T>G (p.Ser170Arg) n.557T>G c.45T>G (p.Ser15Arg) c.*76T>G (n.*76T>G) c.668T>G | |
| 14 | g.87976432A>G | CA487366281 | GALC | c.678T>C (p.Ser226=) c.609T>C (p.Ser203=) c.600T>C (p.Ser200=) n.668T>C n.433T>C c.510T>C (p.Ser170=) n.557T>C c.45T>C (p.Ser15=) c.*76T>C (n.*76T>C) c.668T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.87976432A>T | CA390749579 | GALC | c.678T>A (p.Ser226Arg) c.609T>A (p.Ser203Arg) c.600T>A (p.Ser200Arg) n.668T>A n.433T>A c.510T>A (p.Ser170Arg) n.557T>A c.45T>A (p.Ser15Arg) c.*76T>A (n.*76T>A) c.668T>A | |
| 14 | g.87976433del | CA2697554058 | GALC | c.677del (p.Ser226MetfsTer25) c.608del (p.Ser203MetfsTer25) c.599del (p.Ser200MetfsTer25) n.667del n.432del c.509del (p.Ser170MetfsTer25) n.556del c.44del (p.Ser15MetfsTer25) c.*75del (n.*75del) c.667del | ClinVar |
| 14 | g.87976433C>A | CA390749581 | GALC | c.677G>T (p.Ser226Ile) c.608G>T (p.Ser203Ile) c.599G>T (p.Ser200Ile) n.667G>T n.432G>T c.509G>T (p.Ser170Ile) n.556G>T c.44G>T (p.Ser15Ile) c.*75G>T (n.*75G>T) c.667G>T | |
| 14 | g.87976433C>G | CA390749583 | GALC | c.677G>C (p.Ser226Thr) c.608G>C (p.Ser203Thr) c.599G>C (p.Ser200Thr) n.667G>C n.432G>C c.509G>C (p.Ser170Thr) n.556G>C c.44G>C (p.Ser15Thr) c.*75G>C (n.*75G>C) c.667G>C | |
| 14 | g.87976433C>T | CA390749584 | GALC | c.677G>A (p.Ser226Asn) c.608G>A (p.Ser203Asn) c.599G>A (p.Ser200Asn) n.667G>A n.432G>A c.509G>A (p.Ser170Asn) n.556G>A c.44G>A (p.Ser15Asn) c.*75G>A (n.*75G>A) c.667G>A | gnomAD v4 |
| 14 | g.87976434T>A | CA390749586 | GALC | c.676A>T (p.Ser226Cys) c.607A>T (p.Ser203Cys) c.598A>T (p.Ser200Cys) n.666A>T n.431A>T c.508A>T (p.Ser170Cys) n.555A>T c.43A>T (p.Ser15Cys) c.*74A>T (n.*74A>T) c.666A>T | |
| 14 | g.87976434T>C | CA264708342 | GALC | c.676A>G (p.Ser226Gly) c.607A>G (p.Ser203Gly) c.598A>G (p.Ser200Gly) n.666A>G n.431A>G c.508A>G (p.Ser170Gly) n.555A>G c.43A>G (p.Ser15Gly) c.*74A>G (n.*74A>G) c.666A>G | dbSNP gnomAD v4 |
| 14 | g.87976434T>G | CA390749587 | GALC | c.676A>C (p.Ser226Arg) c.607A>C (p.Ser203Arg) c.598A>C (p.Ser200Arg) n.666A>C n.431A>C c.508A>C (p.Ser170Arg) n.555A>C c.43A>C (p.Ser15Arg) c.*74A>C (n.*74A>C) c.666A>C | |
| 14 | g.87976434T= | CA2153381787 | GALC | c.676A= (p.Ser226=) c.607A= (p.Ser203=) c.598A= (p.Ser200=) n.666A= n.431A= c.508A= (p.Ser170=) n.555A= c.43A= (p.Ser15=) c.*74A= (n.*74A=) c.666A= | |
| 14 | g.87976435T>A | CA487366282 | GALC | c.675A>T (p.Ala225=) c.606A>T (p.Ala202=) c.597A>T (p.Ala199=) n.665A>T n.430A>T c.507A>T (p.Ala169=) n.554A>T c.42A>T (p.Ala14=) c.*73A>T (n.*73A>T) c.665A>T | |
| 14 | g.87976435T>C | CA487366283 | GALC | c.675A>G (p.Ala225=) c.606A>G (p.Ala202=) c.597A>G (p.Ala199=) n.665A>G n.430A>G c.507A>G (p.Ala169=) n.554A>G c.42A>G (p.Ala14=) c.*73A>G (n.*73A>G) c.665A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87976435T>G | CA487366284 | GALC | c.675A>C (p.Ala225=) c.606A>C (p.Ala202=) c.597A>C (p.Ala199=) n.665A>C n.430A>C c.507A>C (p.Ala169=) n.554A>C c.42A>C (p.Ala14=) c.*73A>C (n.*73A>C) c.665A>C | |
| 14 | g.87976435T= | CA2153381788 | GALC | c.675A= (p.Ala225=) c.606A= (p.Ala202=) c.597A= (p.Ala199=) n.665A= n.430A= c.507A= (p.Ala169=) n.554A= c.42A= (p.Ala14=) c.*73A= (n.*73A=) c.665A= | |
| 14 | g.87976436G>A | CA390749588 | GALC | c.674C>T (p.Ala225Val) c.605C>T (p.Ala202Val) c.596C>T (p.Ala199Val) n.664C>T n.429C>T c.506C>T (p.Ala169Val) n.553C>T c.41C>T (p.Ala14Val) c.*72C>T (n.*72C>T) c.664C>T | |
| 14 | g.87976436G>C | CA7297280 | GALC | c.674C>G (p.Ala225Gly) c.605C>G (p.Ala202Gly) c.596C>G (p.Ala199Gly) n.664C>G n.429C>G c.506C>G (p.Ala169Gly) n.553C>G c.41C>G (p.Ala14Gly) c.*72C>G (n.*72C>G) c.664C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87976436G= | CA2153381789 | GALC | c.674C= (p.Ala225=) c.605C= (p.Ala202=) c.596C= (p.Ala199=) n.664C= n.429C= c.506C= (p.Ala169=) n.553C= c.41C= (p.Ala14=) c.*72C= (n.*72C=) c.664C= | |
| 14 | g.87976436G>T | CA7297279 | GALC | c.674C>A (p.Ala225Glu) c.605C>A (p.Ala202Glu) c.596C>A (p.Ala199Glu) n.664C>A n.429C>A c.506C>A (p.Ala169Glu) n.553C>A c.41C>A (p.Ala14Glu) c.*72C>A (n.*72C>A) c.664C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976436dup | CA1139663600 | GALC | c.674dup (p.Ser226LysfsTer2) c.605dup (p.Ser203LysfsTer2) c.596dup (p.Ser200LysfsTer2) n.664dup n.429dup c.506dup (p.Ser170LysfsTer2) n.553dup c.41dup (p.Ser15LysfsTer2) c.*72dup (n.*72dup) c.664dup | ClinVar dbSNP |
| 14 | g.87976437C>A | CA390749591 | GALC | c.673G>T (p.Ala225Ser) c.604G>T (p.Ala202Ser) c.595G>T (p.Ala199Ser) n.663G>T n.428G>T c.505G>T (p.Ala169Ser) n.552G>T c.40G>T (p.Ala14Ser) c.*71G>T (n.*71G>T) c.663G>T | |
| 14 | g.87976437C= | CA2153381790 | GALC | c.673G= (p.Ala225=) c.604G= (p.Ala202=) c.595G= (p.Ala199=) n.663G= n.428G= c.505G= (p.Ala169=) n.552G= c.40G= (p.Ala14=) c.*71G= (n.*71G=) c.663G= | |
| 14 | g.87976437C>G | CA390749593 | GALC | c.673G>C (p.Ala225Pro) c.604G>C (p.Ala202Pro) c.595G>C (p.Ala199Pro) n.663G>C n.428G>C c.505G>C (p.Ala169Pro) n.552G>C c.40G>C (p.Ala14Pro) c.*71G>C (n.*71G>C) c.663G>C | |
| 14 | g.87976437C>T | CA390749592 | GALC | c.673G>A (p.Ala225Thr) c.604G>A (p.Ala202Thr) c.595G>A (p.Ala199Thr) n.663G>A n.428G>A c.505G>A (p.Ala169Thr) n.552G>A c.40G>A (p.Ala14Thr) c.*71G>A (n.*71G>A) c.663G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976438T>A | CA487366285 | GALC | c.672A>T (p.Ile224=) c.603A>T (p.Ile201=) c.594A>T (p.Ile198=) n.662A>T n.427A>T c.504A>T (p.Ile168=) n.551A>T c.39A>T (p.Ile13=) c.*70A>T (n.*70A>T) c.662A>T | dbSNP gnomAD v4 |
| 14 | g.87976438T>C | CA7297281 | GALC | c.672A>G (p.Ile224Met) c.603A>G (p.Ile201Met) c.594A>G (p.Ile198Met) n.662A>G n.427A>G c.504A>G (p.Ile168Met) n.551A>G c.39A>G (p.Ile13Met) c.*70A>G (n.*70A>G) c.662A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87976438T>G | CA487366286 | GALC | c.672A>C (p.Ile224=) c.603A>C (p.Ile201=) c.594A>C (p.Ile198=) n.662A>C n.427A>C c.504A>C (p.Ile168=) n.551A>C c.39A>C (p.Ile13=) c.*70A>C (n.*70A>C) c.662A>C | |
| 14 | g.87976438T= | CA2153381791 | GALC | c.672A= (p.Ile224=) c.603A= (p.Ile201=) c.594A= (p.Ile198=) n.662A= n.427A= c.504A= (p.Ile168=) n.551A= c.39A= (p.Ile13=) c.*70A= (n.*70A=) c.662A= | |
| 14 | g.87976439A>C | CA390749594 | GALC | c.671T>G (p.Ile224Arg) c.602T>G (p.Ile201Arg) c.593T>G (p.Ile198Arg) n.661T>G n.426T>G c.503T>G (p.Ile168Arg) n.550T>G c.38T>G (p.Ile13Arg) c.*69T>G (n.*69T>G) c.661T>G | |
| 14 | g.87976439A>G | CA390749595 | GALC | c.671T>C (p.Ile224Thr) c.602T>C (p.Ile201Thr) c.593T>C (p.Ile198Thr) n.661T>C n.426T>C c.503T>C (p.Ile168Thr) n.550T>C c.38T>C (p.Ile13Thr) c.*69T>C (n.*69T>C) c.661T>C | gnomAD v4 |
| 14 | g.87976439A>T | CA390749596 | GALC | c.671T>A (p.Ile224Lys) c.602T>A (p.Ile201Lys) c.593T>A (p.Ile198Lys) n.661T>A n.426T>A c.503T>A (p.Ile168Lys) n.550T>A c.38T>A (p.Ile13Lys) c.*69T>A (n.*69T>A) c.661T>A | |
| 14 | g.87976440T>A | CA390749597 | GALC | c.670A>T (p.Ile224Leu) c.601A>T (p.Ile201Leu) c.592A>T (p.Ile198Leu) n.660A>T n.425A>T c.502A>T (p.Ile168Leu) n.549A>T c.37A>T (p.Ile13Leu) c.*68A>T (n.*68A>T) c.660A>T | |
| 14 | g.87976440T>C | CA7297282 | GALC | c.670A>G (p.Ile224Val) c.601A>G (p.Ile201Val) c.592A>G (p.Ile198Val) n.660A>G n.425A>G c.502A>G (p.Ile168Val) n.549A>G c.37A>G (p.Ile13Val) c.*68A>G (n.*68A>G) c.660A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87976440T>G | CA390749599 | GALC | c.670A>C (p.Ile224Leu) c.601A>C (p.Ile201Leu) c.592A>C (p.Ile198Leu) n.660A>C n.425A>C c.502A>C (p.Ile168Leu) n.549A>C c.37A>C (p.Ile13Leu) c.*68A>C (n.*68A>C) c.660A>C | |
| 14 | g.87976440T= | CA2153381792 | GALC | c.670A= (p.Ile224=) c.601A= (p.Ile201=) c.592A= (p.Ile198=) n.660A= n.425A= c.502A= (p.Ile168=) n.549A= c.37A= (p.Ile13=) c.*68A= (n.*68A=) c.660A= | |
| 14 | g.87976441G>A | CA487366287 | GALC | c.669C>T (p.Ile223=) c.600C>T (p.Ile200=) c.591C>T (p.Ile197=) n.659C>T n.424C>T c.501C>T (p.Ile167=) n.548C>T c.36C>T (p.Ile12=) c.*67C>T (n.*67C>T) c.659C>T | COSMIC COSMIC |
| 14 | g.87976441G>C | CA390749600 | GALC | c.669C>G (p.Ile223Met) c.600C>G (p.Ile200Met) c.591C>G (p.Ile197Met) n.659C>G n.424C>G c.501C>G (p.Ile167Met) n.548C>G c.36C>G (p.Ile12Met) c.*67C>G (n.*67C>G) c.659C>G | |
| 14 | g.87976441G>T | CA487366288 | GALC | c.669C>A (p.Ile223=) c.600C>A (p.Ile200=) c.591C>A (p.Ile197=) n.659C>A n.424C>A c.501C>A (p.Ile167=) n.548C>A c.36C>A (p.Ile12=) c.*67C>A (n.*67C>A) c.659C>A | |
| 14 | g.87976442A>C | CA390749601 | GALC | c.668T>G (p.Ile223Ser) c.599T>G (p.Ile200Ser) c.590T>G (p.Ile197Ser) n.658T>G n.423T>G c.500T>G (p.Ile167Ser) n.547T>G c.35T>G (p.Ile12Ser) c.*66T>G (n.*66T>G) c.658T>G | |
| 14 | g.87976442A>G | CA390749603 | GALC | c.668T>C (p.Ile223Thr) c.599T>C (p.Ile200Thr) c.590T>C (p.Ile197Thr) n.658T>C n.423T>C c.500T>C (p.Ile167Thr) n.547T>C c.35T>C (p.Ile12Thr) c.*66T>C (n.*66T>C) c.658T>C | gnomAD v4 |
| 14 | g.87976442A>T | CA390749606 | GALC | c.668T>A (p.Ile223Asn) c.599T>A (p.Ile200Asn) c.590T>A (p.Ile197Asn) n.658T>A n.423T>A c.500T>A (p.Ile167Asn) n.547T>A c.35T>A (p.Ile12Asn) c.*66T>A (n.*66T>A) c.658T>A | |
| 14 | g.87976443T>A | CA390749609 | GALC | c.667A>T (p.Ile223Phe) c.598A>T (p.Ile200Phe) c.589A>T (p.Ile197Phe) n.657A>T n.422A>T c.499A>T (p.Ile167Phe) n.546A>T c.34A>T (p.Ile12Phe) c.*65A>T (n.*65A>T) c.657A>T | |
| 14 | g.87976443T>C | CA390749612 | GALC | c.667A>G (p.Ile223Val) c.598A>G (p.Ile200Val) c.589A>G (p.Ile197Val) n.657A>G n.422A>G c.499A>G (p.Ile167Val) n.546A>G c.34A>G (p.Ile12Val) c.*65A>G (n.*65A>G) c.657A>G | dbSNP |
| 14 | g.87976443T>G | CA390749608 | GALC | c.667A>C (p.Ile223Leu) c.598A>C (p.Ile200Leu) c.589A>C (p.Ile197Leu) n.657A>C n.422A>C c.499A>C (p.Ile167Leu) n.546A>C c.34A>C (p.Ile12Leu) c.*65A>C (n.*65A>C) c.657A>C | gnomAD v4 |
| 14 | g.87976443T= | CA2153381793 | GALC | c.667A= (p.Ile223=) c.598A= (p.Ile200=) c.589A= (p.Ile197=) n.657A= n.422A= c.499A= (p.Ile167=) n.546A= c.34A= (p.Ile12=) c.*65A= (n.*65A=) c.657A= | |
| 14 | g.87976444T>A | CA390749613 | GALC | c.666A>T (p.Lys222Asn) c.597A>T (p.Lys199Asn) c.588A>T (p.Lys196Asn) n.656A>T n.421A>T c.498A>T (p.Lys166Asn) n.545A>T c.33A>T (p.Lys11Asn) c.*64A>T (n.*64A>T) c.656A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976444T>C | CA487366289 | GALC | c.666A>G (p.Lys222=) c.597A>G (p.Lys199=) c.588A>G (p.Lys196=) n.656A>G n.421A>G c.498A>G (p.Lys166=) n.545A>G c.33A>G (p.Lys11=) c.*64A>G (n.*64A>G) c.656A>G | |
| 14 | g.87976444T>G | CA390749616 | GALC | c.666A>C (p.Lys222Asn) c.597A>C (p.Lys199Asn) c.588A>C (p.Lys196Asn) n.656A>C n.421A>C c.498A>C (p.Lys166Asn) n.545A>C c.33A>C (p.Lys11Asn) c.*64A>C (n.*64A>C) c.656A>C | |
| 14 | g.87976444T= | CA2153381794 | GALC | c.666A= (p.Lys222=) c.597A= (p.Lys199=) c.588A= (p.Lys196=) n.656A= n.421A= c.498A= (p.Lys166=) n.545A= c.33A= (p.Lys11=) c.*64A= (n.*64A=) c.656A= | |
| 14 | g.87976445T>A | CA390749618 | GALC | c.665A>T (p.Lys222Ile) c.596A>T (p.Lys199Ile) c.587A>T (p.Lys196Ile) n.655A>T n.420A>T c.497A>T (p.Lys166Ile) n.544A>T c.32A>T (p.Lys11Ile) c.*63A>T (n.*63A>T) c.655A>T | |
| 14 | g.87976445T>C | CA390749619 | GALC | c.665A>G (p.Lys222Arg) c.596A>G (p.Lys199Arg) c.587A>G (p.Lys196Arg) n.655A>G n.420A>G c.497A>G (p.Lys166Arg) n.544A>G c.32A>G (p.Lys11Arg) c.*63A>G (n.*63A>G) c.655A>G | gnomAD v4 |
| 14 | g.87976445T>G | CA390749620 | GALC | c.665A>C (p.Lys222Thr) c.596A>C (p.Lys199Thr) c.587A>C (p.Lys196Thr) n.655A>C n.420A>C c.497A>C (p.Lys166Thr) n.544A>C c.32A>C (p.Lys11Thr) c.*63A>C (n.*63A>C) c.655A>C | |
| 14 | g.87976446T>A | CA390749621 | GALC | c.664A>T (p.Lys222Ter) c.595A>T (p.Lys199Ter) c.586A>T (p.Lys196Ter) n.654A>T n.419A>T c.496A>T (p.Lys166Ter) n.543A>T c.31A>T (p.Lys11Ter) c.*62A>T (n.*62A>T) c.654A>T | |
| 14 | g.87976446T>C | CA390749622 | GALC | c.664A>G (p.Lys222Glu) c.595A>G (p.Lys199Glu) c.586A>G (p.Lys196Glu) n.654A>G n.419A>G c.496A>G (p.Lys166Glu) n.543A>G c.31A>G (p.Lys11Glu) c.*62A>G (n.*62A>G) c.654A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87976446T>G | CA390749624 | GALC | c.664A>C (p.Lys222Gln) c.595A>C (p.Lys199Gln) c.586A>C (p.Lys196Gln) n.654A>C n.419A>C c.496A>C (p.Lys166Gln) n.543A>C c.31A>C (p.Lys11Gln) c.*62A>C (n.*62A>C) c.654A>C | |
| 14 | g.87976446T= | CA2153381795 | GALC | c.664A= (p.Lys222=) c.595A= (p.Lys199=) c.586A= (p.Lys196=) n.654A= n.419A= c.496A= (p.Lys166=) n.543A= c.31A= (p.Lys11=) c.*62A= (n.*62A=) c.654A= | |
| 14 | g.87976447C>A | CA487366292 | GALC | c.663G>T (p.Val221=) c.594G>T (p.Val198=) c.585G>T (p.Val195=) n.653G>T n.418G>T c.495G>T (p.Val165=) n.542G>T c.30G>T (p.Val10=) c.*61G>T (n.*61G>T) c.653G>T | |
| 14 | g.87976447C= | CA2153381796 | GALC | c.663G= (p.Val221=) c.594G= (p.Val198=) c.585G= (p.Val195=) n.653G= n.418G= c.495G= (p.Val165=) n.542G= c.30G= (p.Val10=) c.*61G= (n.*61G=) c.653G= | |
| 14 | g.87976447C>G | CA487366291 | GALC | c.663G>C (p.Val221=) c.594G>C (p.Val198=) c.585G>C (p.Val195=) n.653G>C n.418G>C c.495G>C (p.Val165=) n.542G>C c.30G>C (p.Val10=) c.*61G>C (n.*61G>C) c.653G>C | gnomAD v4 |
| 14 | g.87976447C>T | CA487366290 | GALC | c.663G>A (p.Val221=) c.594G>A (p.Val198=) c.585G>A (p.Val195=) n.653G>A n.418G>A c.495G>A (p.Val165=) n.542G>A c.30G>A (p.Val10=) c.*61G>A (n.*61G>A) c.653G>A | dbSNP |
| 14 | g.87976448A>C | CA390749625 | GALC | c.662T>G (p.Val221Gly) c.593T>G (p.Val198Gly) c.584T>G (p.Val195Gly) n.652T>G n.417T>G c.494T>G (p.Val165Gly) n.541T>G c.29T>G (p.Val10Gly) c.*60T>G (n.*60T>G) c.652T>G | |
| 14 | g.87976448A>G | CA390749626 | GALC | c.662T>C (p.Val221Ala) c.593T>C (p.Val198Ala) c.584T>C (p.Val195Ala) n.652T>C n.417T>C c.494T>C (p.Val165Ala) n.541T>C c.29T>C (p.Val10Ala) c.*60T>C (n.*60T>C) c.652T>C | |
| 14 | g.87976448A>T | CA390749627 | GALC | c.662T>A (p.Val221Glu) c.593T>A (p.Val198Glu) c.584T>A (p.Val195Glu) n.652T>A n.417T>A c.494T>A (p.Val165Glu) n.541T>A c.29T>A (p.Val10Glu) c.*60T>A (n.*60T>A) c.652T>A | |
| 14 | g.87976449C>A | CA390749634 | GALC | c.661G>T (p.Val221Leu) c.592G>T (p.Val198Leu) c.583G>T (p.Val195Leu) n.651G>T n.416G>T c.493G>T (p.Val165Leu) n.540G>T c.28G>T (p.Val10Leu) c.*59G>T (n.*59G>T) c.651G>T | |
| 14 | g.87976449C>G | CA390749636 | GALC | c.661G>C (p.Val221Leu) c.592G>C (p.Val198Leu) c.583G>C (p.Val195Leu) n.651G>C n.416G>C c.493G>C (p.Val165Leu) n.540G>C c.28G>C (p.Val10Leu) c.*59G>C (n.*59G>C) c.651G>C | |
| 14 | g.87976449C>T | CA390749644 | GALC | c.661G>A (p.Val221Met) c.592G>A (p.Val198Met) c.583G>A (p.Val195Met) n.651G>A n.416G>A c.493G>A (p.Val165Met) n.540G>A c.28G>A (p.Val10Met) c.*59G>A (n.*59G>A) c.651G>A | |
| 14 | g.87976450T>A | CA487366293 | GALC | c.660A>T (p.Arg220=) c.591A>T (p.Arg197=) c.582A>T (p.Arg194=) n.650A>T n.415A>T c.492A>T (p.Arg164=) n.539A>T c.27A>T (p.Arg9=) c.*58A>T (n.*58A>T) c.650A>T | |
| 14 | g.87976450T>C | CA487366295 | GALC | c.660A>G (p.Arg220=) c.591A>G (p.Arg197=) c.582A>G (p.Arg194=) n.650A>G n.415A>G c.492A>G (p.Arg164=) n.539A>G c.27A>G (p.Arg9=) c.*58A>G (n.*58A>G) c.650A>G | |
| 14 | g.87976450T>G | CA487366294 | GALC | c.660A>C (p.Arg220=) c.591A>C (p.Arg197=) c.582A>C (p.Arg194=) n.650A>C n.415A>C c.492A>C (p.Arg164=) n.539A>C c.27A>C (p.Arg9=) c.*58A>C (n.*58A>C) c.650A>C | |
| 14 | g.87976451C>A | CA390749648 | GALC | c.659G>T (p.Arg220Leu) c.590G>T (p.Arg197Leu) c.581G>T (p.Arg194Leu) n.649G>T n.414G>T c.491G>T (p.Arg164Leu) n.538G>T c.26G>T (p.Arg9Leu) c.*57G>T (n.*57G>T) c.649G>T | |
| 14 | g.87976451C= | CA2153381797 | GALC | c.659G= (p.Arg220=) c.590G= (p.Arg197=) c.581G= (p.Arg194=) n.649G= n.414G= c.491G= (p.Arg164=) n.538G= c.26G= (p.Arg9=) c.*57G= (n.*57G=) c.649G= | |
| 14 | g.87976451C>G | CA390749647 | GALC | c.659G>C (p.Arg220Pro) c.590G>C (p.Arg197Pro) c.581G>C (p.Arg194Pro) n.649G>C n.414G>C c.491G>C (p.Arg164Pro) n.538G>C c.26G>C (p.Arg9Pro) c.*57G>C (n.*57G>C) c.649G>C | |
| 14 | g.87976451C>T | CA206409 | GALC | c.659G>A (p.Arg220Gln) c.590G>A (p.Arg197Gln) c.581G>A (p.Arg194Gln) n.649G>A n.414G>A c.491G>A (p.Arg164Gln) n.538G>A c.26G>A (p.Arg9Gln) c.*57G>A (n.*57G>A) c.649G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.87976452G>A | CA274279 | GALC | c.658C>T (p.Arg220Ter) c.589C>T (p.Arg197Ter) c.580C>T (p.Arg194Ter) n.648C>T n.413C>T c.490C>T (p.Arg164Ter) n.537C>T c.25C>T (p.Arg9Ter) c.*56C>T (n.*56C>T) c.648C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87976452G>C | CA390749652 | GALC | c.658C>G (p.Arg220Gly) c.589C>G (p.Arg197Gly) c.580C>G (p.Arg194Gly) n.648C>G n.413C>G c.490C>G (p.Arg164Gly) n.537C>G c.25C>G (p.Arg9Gly) c.*56C>G (n.*56C>G) c.648C>G | gnomAD v4 |
| 14 | g.87976452G= | CA2153381798 | GALC | c.658C= (p.Arg220=) c.589C= (p.Arg197=) c.580C= (p.Arg194=) n.648C= n.413C= c.490C= (p.Arg164=) n.537C= c.25C= (p.Arg9=) c.*56C= (n.*56C=) c.648C= | |
| 14 | g.87976452G>T | CA487366296 | GALC | c.658C>A (p.Arg220=) c.589C>A (p.Arg197=) c.580C>A (p.Arg194=) n.648C>A n.413C>A c.490C>A (p.Arg164=) n.537C>A c.25C>A (p.Arg9=) c.*56C>A (n.*56C>A) c.648C>A | |
| 14 | g.87976453C>A | CA390749653 | GALC | c.657G>T (p.Gln219His) c.588G>T (p.Gln196His) c.579G>T (p.Gln193His) n.647G>T n.412G>T c.489G>T (p.Gln163His) n.536G>T c.24G>T (p.Gln8His) c.*55G>T (n.*55G>T) c.647G>T | |
| 14 | g.87976453C>G | CA390749654 | GALC | c.657G>C (p.Gln219His) c.588G>C (p.Gln196His) c.579G>C (p.Gln193His) n.647G>C n.412G>C c.489G>C (p.Gln163His) n.536G>C c.24G>C (p.Gln8His) c.*55G>C (n.*55G>C) c.647G>C | |
| 14 | g.87976453C>T | CA487366297 | GALC | c.657G>A (p.Gln219=) c.588G>A (p.Gln196=) c.579G>A (p.Gln193=) n.647G>A n.412G>A c.489G>A (p.Gln163=) n.536G>A c.24G>A (p.Gln8=) c.*55G>A (n.*55G>A) c.647G>A | |
| 14 | g.87976455_87976462del | CA2695219637 | GALC | c.650_657del (p.Gly217AlafsTer8) c.581_588del (p.Gly194AlafsTer8) c.572_579del (p.Gly191AlafsTer8) n.640_647del n.405_412del c.482_489del (p.Gly161AlafsTer8) n.529_536del c.17_24del (p.Gly6AlafsTer8) c.*48_*55del (n.*48_*55del) c.640_647del | |
| 14 | g.87976454T>A | CA390749655 | GALC | c.656A>T (p.Gln219Leu) c.587A>T (p.Gln196Leu) c.578A>T (p.Gln193Leu) n.646A>T n.411A>T c.488A>T (p.Gln163Leu) n.535A>T c.23A>T (p.Gln8Leu) c.*54A>T (n.*54A>T) c.646A>T | |
| 14 | g.87976454T>C | CA390749656 | GALC | c.656A>G (p.Gln219Arg) c.587A>G (p.Gln196Arg) c.578A>G (p.Gln193Arg) n.646A>G n.411A>G c.488A>G (p.Gln163Arg) n.535A>G c.23A>G (p.Gln8Arg) c.*54A>G (n.*54A>G) c.646A>G | gnomAD v4 |
| 14 | g.87976454T>G | CA390749658 | GALC | c.656A>C (p.Gln219Pro) c.587A>C (p.Gln196Pro) c.578A>C (p.Gln193Pro) n.646A>C n.411A>C c.488A>C (p.Gln163Pro) n.535A>C c.23A>C (p.Gln8Pro) c.*54A>C (n.*54A>C) c.646A>C | |
| 14 | g.87976455G>A | CA390749660 | GALC | c.655C>T (p.Gln219Ter) c.586C>T (p.Gln196Ter) c.577C>T (p.Gln193Ter) n.645C>T n.410C>T c.487C>T (p.Gln163Ter) n.534C>T c.22C>T (p.Gln8Ter) c.*53C>T (n.*53C>T) c.645C>T | ClinVar gnomAD v4 |
| 14 | g.87976455G>C | CA390749662 | GALC | c.655C>G (p.Gln219Glu) c.586C>G (p.Gln196Glu) c.577C>G (p.Gln193Glu) n.645C>G n.410C>G c.487C>G (p.Gln163Glu) n.534C>G c.22C>G (p.Gln8Glu) c.*53C>G (n.*53C>G) c.645C>G | |
| 14 | g.87976455G>T | CA390749663 | GALC | c.655C>A (p.Gln219Lys) c.586C>A (p.Gln196Lys) c.577C>A (p.Gln193Lys) n.645C>A n.410C>A c.487C>A (p.Gln163Lys) n.534C>A c.22C>A (p.Gln8Lys) c.*53C>A (n.*53C>A) c.645C>A | |
| 14 | g.87976456del | CA2695219638 | GALC | c.655del (p.Gln219SerfsTer3) c.586del (p.Gln196SerfsTer3) c.577del (p.Gln193SerfsTer3) n.645del n.410del c.487del (p.Gln163SerfsTer3) n.534del c.22del (p.Gln8SerfsTer3) c.*53del (n.*53del) c.645del | |
| 14 | g.87976456G>A | CA487366298 | GALC | c.654C>T (p.Leu218=) c.585C>T (p.Leu195=) c.576C>T (p.Leu192=) n.644C>T n.409C>T c.486C>T (p.Leu162=) n.533C>T c.21C>T (p.Leu7=) c.*52C>T (n.*52C>T) c.644C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.87976456G>C | CA487366299 | GALC | c.654C>G (p.Leu218=) c.585C>G (p.Leu195=) c.576C>G (p.Leu192=) n.644C>G n.409C>G c.486C>G (p.Leu162=) n.533C>G c.21C>G (p.Leu7=) c.*52C>G (n.*52C>G) c.644C>G | |
| 14 | g.87976456G>T | CA487366300 | GALC | c.654C>A (p.Leu218=) c.585C>A (p.Leu195=) c.576C>A (p.Leu192=) n.644C>A n.409C>A c.486C>A (p.Leu162=) n.533C>A c.21C>A (p.Leu7=) c.*52C>A (n.*52C>A) c.644C>A | |
| 14 | g.87976457A>C | CA390749664 | GALC | c.653T>G (p.Leu218Arg) c.584T>G (p.Leu195Arg) c.575T>G (p.Leu192Arg) n.643T>G n.408T>G c.485T>G (p.Leu162Arg) n.532T>G c.20T>G (p.Leu7Arg) c.*51T>G (n.*51T>G) c.643T>G | |
| 14 | g.87976457A>G | CA390749665 | GALC | c.653T>C (p.Leu218Pro) c.584T>C (p.Leu195Pro) c.575T>C (p.Leu192Pro) n.643T>C n.408T>C c.485T>C (p.Leu162Pro) n.532T>C c.20T>C (p.Leu7Pro) c.*51T>C (n.*51T>C) c.643T>C | gnomAD v4 |
| 14 | g.87976457A>T | CA390749667 | GALC | c.653T>A (p.Leu218His) c.584T>A (p.Leu195His) c.575T>A (p.Leu192His) n.643T>A n.408T>A c.485T>A (p.Leu162His) n.532T>A c.20T>A (p.Leu7His) c.*51T>A (n.*51T>A) c.643T>A | |
| 14 | g.87976458G>A | CA390749675 | GALC | c.652C>T (p.Leu218Phe) c.583C>T (p.Leu195Phe) c.574C>T (p.Leu192Phe) n.642C>T n.407C>T c.484C>T (p.Leu162Phe) n.531C>T c.19C>T (p.Leu7Phe) c.*50C>T (n.*50C>T) c.642C>T | |
| 14 | g.87976458G>C | CA390749673 | GALC | c.652C>G (p.Leu218Val) c.583C>G (p.Leu195Val) c.574C>G (p.Leu192Val) n.642C>G n.407C>G c.484C>G (p.Leu162Val) n.531C>G c.19C>G (p.Leu7Val) c.*50C>G (n.*50C>G) c.642C>G | |
| 14 | g.87976458G>T | CA390749671 | GALC | c.652C>A (p.Leu218Ile) c.583C>A (p.Leu195Ile) c.574C>A (p.Leu192Ile) n.642C>A n.407C>A c.484C>A (p.Leu162Ile) n.531C>A c.19C>A (p.Leu7Ile) c.*50C>A (n.*50C>A) c.642C>A | |
| 14 | g.87976459A= | CA2153381799 | GALC | c.651T= (p.Gly217=) c.582T= (p.Gly194=) c.573T= (p.Gly191=) n.641T= n.406T= c.483T= (p.Gly161=) n.530T= c.18T= (p.Gly6=) c.*49T= (n.*49T=) c.641T= | |
| 14 | g.87976459A>C | CA487366301 | GALC | c.651T>G (p.Gly217=) c.582T>G (p.Gly194=) c.573T>G (p.Gly191=) n.641T>G n.406T>G c.483T>G (p.Gly161=) n.530T>G c.18T>G (p.Gly6=) c.*49T>G (n.*49T>G) c.641T>G | dbSNP gnomAD v4 |
| 14 | g.87976459A>G | CA487366302 | GALC | c.651T>C (p.Gly217=) c.582T>C (p.Gly194=) c.573T>C (p.Gly191=) n.641T>C n.406T>C c.483T>C (p.Gly161=) n.530T>C c.18T>C (p.Gly6=) c.*49T>C (n.*49T>C) c.641T>C | |
| 14 | g.87976459A>T | CA487366303 | GALC | c.651T>A (p.Gly217=) c.582T>A (p.Gly194=) c.573T>A (p.Gly191=) n.641T>A n.406T>A c.483T>A (p.Gly161=) n.530T>A c.18T>A (p.Gly6=) c.*49T>A (n.*49T>A) c.641T>A | |
| 14 | g.87976460C>A | CA390749678 | GALC | c.650G>T (p.Gly217Val) c.581G>T (p.Gly194Val) c.572G>T (p.Gly191Val) n.640G>T n.405G>T c.482G>T (p.Gly161Val) n.529G>T c.17G>T (p.Gly6Val) c.*48G>T (n.*48G>T) c.640G>T | |
| 14 | g.87976460C= | CA2153381800 | GALC | c.650G= (p.Gly217=) c.581G= (p.Gly194=) c.572G= (p.Gly191=) n.640G= n.405G= c.482G= (p.Gly161=) n.529G= c.17G= (p.Gly6=) c.*48G= (n.*48G=) c.640G= | |
| 14 | g.87976460C>G | CA390749680 | GALC | c.650G>C (p.Gly217Ala) c.581G>C (p.Gly194Ala) c.572G>C (p.Gly191Ala) n.640G>C n.405G>C c.482G>C (p.Gly161Ala) n.529G>C c.17G>C (p.Gly6Ala) c.*48G>C (n.*48G>C) c.640G>C | |
| 14 | g.87976460C>T | CA390749679 | GALC | c.650G>A (p.Gly217Asp) c.581G>A (p.Gly194Asp) c.572G>A (p.Gly191Asp) n.640G>A n.405G>A c.482G>A (p.Gly161Asp) n.529G>A c.17G>A (p.Gly6Asp) c.*48G>A (n.*48G>A) c.640G>A | dbSNP |
| 14 | g.87976461C>A | CA390749681 | GALC | c.649G>T (p.Gly217Cys) c.580G>T (p.Gly194Cys) c.571G>T (p.Gly191Cys) n.639G>T n.404G>T c.481G>T (p.Gly161Cys) n.528G>T c.16G>T (p.Gly6Cys) c.*47G>T (n.*47G>T) c.639G>T | |
| 14 | g.87976461C>G | CA390749688 | GALC | c.649G>C (p.Gly217Arg) c.580G>C (p.Gly194Arg) c.571G>C (p.Gly191Arg) n.639G>C n.404G>C c.481G>C (p.Gly161Arg) n.528G>C c.16G>C (p.Gly6Arg) c.*47G>C (n.*47G>C) c.639G>C | |
| 14 | g.87976461C>T | CA390749686 | GALC | c.649G>A (p.Gly217Ser) c.580G>A (p.Gly194Ser) c.571G>A (p.Gly191Ser) n.639G>A n.404G>A c.481G>A (p.Gly161Ser) n.528G>A c.16G>A (p.Gly6Ser) c.*47G>A (n.*47G>A) c.639G>A | |
| 14 | g.87976462T>A | CA390749691 | GALC | c.648A>T (p.Gln216His) c.579A>T (p.Gln193His) c.570A>T (p.Gln190His) n.638A>T n.403A>T c.480A>T (p.Gln160His) n.527A>T c.15A>T (p.Gln5His) c.*46A>T (n.*46A>T) c.638A>T | |
| 14 | g.87976462T>C | CA487366304 | GALC | c.648A>G (p.Gln216=) c.579A>G (p.Gln193=) c.570A>G (p.Gln190=) n.638A>G n.403A>G c.480A>G (p.Gln160=) n.527A>G c.15A>G (p.Gln5=) c.*46A>G (n.*46A>G) c.638A>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87976462T>G | CA7297283 | GALC | c.648A>C (p.Gln216His) c.579A>C (p.Gln193His) c.570A>C (p.Gln190His) n.638A>C n.403A>C c.480A>C (p.Gln160His) n.527A>C c.15A>C (p.Gln5His) c.*46A>C (n.*46A>C) c.638A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976462T= | CA2153381801 | GALC | c.648A= (p.Gln216=) c.579A= (p.Gln193=) c.570A= (p.Gln190=) n.638A= n.403A= c.480A= (p.Gln160=) n.527A= c.15A= (p.Gln5=) c.*46A= (n.*46A=) c.638A= | |
| 14 | g.87976463T>A | CA390749693 | GALC | c.647A>T (p.Gln216Leu) c.578A>T (p.Gln193Leu) c.569A>T (p.Gln190Leu) n.637A>T n.402A>T c.479A>T (p.Gln160Leu) n.526A>T c.14A>T (p.Gln5Leu) c.*45A>T (n.*45A>T) c.637A>T | |
| 14 | g.87976463T>C | CA390749695 | GALC | c.647A>G (p.Gln216Arg) c.578A>G (p.Gln193Arg) c.569A>G (p.Gln190Arg) n.637A>G n.402A>G c.479A>G (p.Gln160Arg) n.526A>G c.14A>G (p.Gln5Arg) c.*45A>G (n.*45A>G) c.637A>G | |
| 14 | g.87976463T>G | CA390749696 | GALC | c.647A>C (p.Gln216Pro) c.578A>C (p.Gln193Pro) c.569A>C (p.Gln190Pro) n.637A>C n.402A>C c.479A>C (p.Gln160Pro) n.526A>C c.14A>C (p.Gln5Pro) c.*45A>C (n.*45A>C) c.637A>C | |
| 14 | g.87976463_87976464del | CA2580088851 | GALC | c.646_647del (p.Gln216ArgfsTer11) c.577_578del (p.Gln193ArgfsTer11) c.568_569del (p.Gln190ArgfsTer11) n.636_637del n.401_402del c.478_479del (p.Gln160ArgfsTer11) n.525_526del c.13_14del (p.Gln5ArgfsTer11) c.*44_*45del (n.*44_*45del) c.636_637del | ClinVar |
| 14 | g.87976464G>A | CA390749699 | GALC | c.646C>T (p.Gln216Ter) c.577C>T (p.Gln193Ter) c.568C>T (p.Gln190Ter) n.636C>T n.401C>T c.478C>T (p.Gln160Ter) n.525C>T c.13C>T (p.Gln5Ter) c.*44C>T (n.*44C>T) c.636C>T | |
| 14 | g.87976464G>C | CA390749700 | GALC | c.646C>G (p.Gln216Glu) c.577C>G (p.Gln193Glu) c.568C>G (p.Gln190Glu) n.636C>G n.401C>G c.478C>G (p.Gln160Glu) n.525C>G c.13C>G (p.Gln5Glu) c.*44C>G (n.*44C>G) c.636C>G | |
| 14 | g.87976464G>T | CA390749702 | GALC | c.646C>A (p.Gln216Lys) c.577C>A (p.Gln193Lys) c.568C>A (p.Gln190Lys) n.636C>A n.401C>A c.478C>A (p.Gln160Lys) n.525C>A c.13C>A (p.Gln5Lys) c.*44C>A (n.*44C>A) c.636C>A | gnomAD v4 |
| 14 | g.87976465del | CA2580088853 | GALC | c.645del (p.Gln216LysfsTer6) c.576del (p.Gln193LysfsTer6) c.567del (p.Gln190LysfsTer6) n.635del n.400del c.477del (p.Gln160LysfsTer6) n.524del c.12del (p.Gln5LysfsTer6) c.*43del (n.*43del) c.635del | ClinVar |
| 14 | g.87976465A= | CA2153381802 | GALC | c.645T= (p.Tyr215=) c.576T= (p.Tyr192=) c.567T= (p.Tyr189=) n.635T= n.400T= c.477T= (p.Tyr159=) n.524T= c.12T= (p.Tyr4=) c.*43T= (n.*43T=) c.635T= | |
| 14 | g.87976465A>C | CA390749704 | GALC | c.645T>G (p.Tyr215Ter) c.576T>G (p.Tyr192Ter) c.567T>G (p.Tyr189Ter) n.635T>G n.400T>G c.477T>G (p.Tyr159Ter) n.524T>G c.12T>G (p.Tyr4Ter) c.*43T>G (n.*43T>G) c.635T>G | |
| 14 | g.87976465A>G | CA487366305 | GALC | c.645T>C (p.Tyr215=) c.576T>C (p.Tyr192=) c.567T>C (p.Tyr189=) n.635T>C n.400T>C c.477T>C (p.Tyr159=) n.524T>C c.12T>C (p.Tyr4=) c.*43T>C (n.*43T>C) c.635T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976465A>T | CA390749706 | GALC | c.645T>A (p.Tyr215Ter) c.576T>A (p.Tyr192Ter) c.567T>A (p.Tyr189Ter) n.635T>A n.400T>A c.477T>A (p.Tyr159Ter) n.524T>A c.12T>A (p.Tyr4Ter) c.*43T>A (n.*43T>A) c.635T>A | |
| 14 | g.87976466T>A | CA390749712 | GALC | c.644A>T (p.Tyr215Phe) c.575A>T (p.Tyr192Phe) c.566A>T (p.Tyr189Phe) n.634A>T n.399A>T c.476A>T (p.Tyr159Phe) n.523A>T c.11A>T (p.Tyr4Phe) c.*42A>T (n.*42A>T) c.634A>T | |
| 14 | g.87976466T>C | CA390749711 | GALC | c.644A>G (p.Tyr215Cys) c.575A>G (p.Tyr192Cys) c.566A>G (p.Tyr189Cys) n.634A>G n.399A>G c.476A>G (p.Tyr159Cys) n.523A>G c.11A>G (p.Tyr4Cys) c.*42A>G (n.*42A>G) c.634A>G | |
| 14 | g.87976466T>G | CA390749709 | GALC | c.644A>C (p.Tyr215Ser) c.575A>C (p.Tyr192Ser) c.566A>C (p.Tyr189Ser) n.634A>C n.399A>C c.476A>C (p.Tyr159Ser) n.523A>C c.11A>C (p.Tyr4Ser) c.*42A>C (n.*42A>C) c.634A>C | |
| 14 | g.87976467A>C | CA390749714 | GALC | c.643T>G (p.Tyr215Asp) c.574T>G (p.Tyr192Asp) c.565T>G (p.Tyr189Asp) n.633T>G n.398T>G c.475T>G (p.Tyr159Asp) n.522T>G c.10T>G (p.Tyr4Asp) c.*41T>G (n.*41T>G) c.633T>G | |
| 14 | g.87976467A>G | CA390749715 | GALC | c.643T>C (p.Tyr215His) c.574T>C (p.Tyr192His) c.565T>C (p.Tyr189His) n.633T>C n.398T>C c.475T>C (p.Tyr159His) n.522T>C c.10T>C (p.Tyr4His) c.*41T>C (n.*41T>C) c.633T>C | |
| 14 | g.87976467A>T | CA390749717 | GALC | c.643T>A (p.Tyr215Asn) c.574T>A (p.Tyr192Asn) c.565T>A (p.Tyr189Asn) n.633T>A n.398T>A c.475T>A (p.Tyr159Asn) n.522T>A c.10T>A (p.Tyr4Asn) c.*41T>A (n.*41T>A) c.633T>A | |
| 14 | g.87976468A>C | CA390749719 | GALC | c.642T>G (p.Asn214Lys) c.573T>G (p.Asn191Lys) c.564T>G (p.Asn188Lys) n.632T>G n.397T>G c.474T>G (p.Asn158Lys) n.521T>G c.9T>G (p.Asn3Lys) c.*40T>G (n.*40T>G) c.632T>G | |
| 14 | g.87976468A>G | CA487366306 | GALC | c.642T>C (p.Asn214=) c.573T>C (p.Asn191=) c.564T>C (p.Asn188=) n.632T>C n.397T>C c.474T>C (p.Asn158=) n.521T>C c.9T>C (p.Asn3=) c.*40T>C (n.*40T>C) c.632T>C | |
| 14 | g.87976468A>T | CA390749721 | GALC | c.642T>A (p.Asn214Lys) c.573T>A (p.Asn191Lys) c.564T>A (p.Asn188Lys) n.632T>A n.397T>A c.474T>A (p.Asn158Lys) n.521T>A c.9T>A (p.Asn3Lys) c.*40T>A (n.*40T>A) c.632T>A | |
| 14 | g.87976469T>A | CA390749726 | GALC | c.641A>T (p.Asn214Ile) c.572A>T (p.Asn191Ile) c.563A>T (p.Asn188Ile) n.631A>T n.396A>T c.473A>T (p.Asn158Ile) n.520A>T c.8A>T (p.Asn3Ile) c.*39A>T (n.*39A>T) c.631A>T | |
| 14 | g.87976469T>C | CA390749728 | GALC | c.641A>G (p.Asn214Ser) c.572A>G (p.Asn191Ser) c.563A>G (p.Asn188Ser) n.631A>G n.396A>G c.473A>G (p.Asn158Ser) n.520A>G c.8A>G (p.Asn3Ser) c.*39A>G (n.*39A>G) c.631A>G | gnomAD v4 |
| 14 | g.87976469T>G | CA390749730 | GALC | c.641A>C (p.Asn214Thr) c.572A>C (p.Asn191Thr) c.563A>C (p.Asn188Thr) n.631A>C n.396A>C c.473A>C (p.Asn158Thr) n.520A>C c.8A>C (p.Asn3Thr) c.*39A>C (n.*39A>C) c.631A>C | |
| 14 | g.87976470T>A | CA390749733 | GALC | c.640A>T (p.Asn214Tyr) c.571A>T (p.Asn191Tyr) c.562A>T (p.Asn188Tyr) n.630A>T n.395A>T c.472A>T (p.Asn158Tyr) n.519A>T c.7A>T (p.Asn3Tyr) c.*38A>T (n.*38A>T) c.630A>T | |
| 14 | g.87976470T>C | CA390749735 | GALC | c.640A>G (p.Asn214Asp) c.571A>G (p.Asn191Asp) c.562A>G (p.Asn188Asp) n.630A>G n.395A>G c.472A>G (p.Asn158Asp) n.519A>G c.7A>G (p.Asn3Asp) c.*38A>G (n.*38A>G) c.630A>G | gnomAD v4 |
| 14 | g.87976470T>G | CA390749738 | GALC | c.640A>C (p.Asn214His) c.571A>C (p.Asn191His) c.562A>C (p.Asn188His) n.630A>C n.395A>C c.472A>C (p.Asn158His) n.519A>C c.7A>C (p.Asn3His) c.*38A>C (n.*38A>C) c.630A>C | |
| 14 | g.87976471C>A | CA487366307 | GALC | c.639G>T (p.Leu213=) c.570G>T (p.Leu190=) c.561G>T (p.Leu187=) n.629G>T n.394G>T c.471G>T (p.Leu157=) n.518G>T c.6G>T (p.Leu2=) c.*37G>T (n.*37G>T) c.629G>T | |
| 14 | g.87976471C= | CA2153381803 | GALC | c.639G= (p.Leu213=) c.570G= (p.Leu190=) c.561G= (p.Leu187=) n.629G= n.394G= c.471G= (p.Leu157=) n.518G= c.6G= (p.Leu2=) c.*37G= (n.*37G=) c.629G= | |
| 14 | g.87976471C>G | CA264708362 | GALC | c.639G>C (p.Leu213=) c.570G>C (p.Leu190=) c.561G>C (p.Leu187=) n.629G>C n.394G>C c.471G>C (p.Leu157=) n.518G>C c.6G>C (p.Leu2=) c.*37G>C (n.*37G>C) c.629G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976471C>T | CA487366308 | GALC | c.639G>A (p.Leu213=) c.570G>A (p.Leu190=) c.561G>A (p.Leu187=) n.629G>A n.394G>A c.471G>A (p.Leu157=) n.518G>A c.6G>A (p.Leu2=) c.*37G>A (n.*37G>A) c.629G>A | ClinVar |
| 14 | g.87976472A>C | CA390749743 | GALC | c.638T>G (p.Leu213Arg) c.569T>G (p.Leu190Arg) c.560T>G (p.Leu187Arg) n.628T>G n.393T>G c.470T>G (p.Leu157Arg) n.517T>G c.5T>G (p.Leu2Arg) c.*36T>G (n.*36T>G) c.628T>G | |
| 14 | g.87976472A>G | CA390749744 | GALC | c.638T>C (p.Leu213Pro) c.569T>C (p.Leu190Pro) c.560T>C (p.Leu187Pro) n.628T>C n.393T>C c.470T>C (p.Leu157Pro) n.517T>C c.5T>C (p.Leu2Pro) c.*36T>C (n.*36T>C) c.628T>C | |
| 14 | g.87976472A>T | CA390749742 | GALC | c.638T>A (p.Leu213Gln) c.569T>A (p.Leu190Gln) c.560T>A (p.Leu187Gln) n.628T>A n.393T>A c.470T>A (p.Leu157Gln) n.517T>A c.5T>A (p.Leu2Gln) c.*36T>A (n.*36T>A) c.628T>A | |
| 14 | g.87976473G>A | CA487366309 | GALC | c.637C>T (p.Leu213=) c.568C>T (p.Leu190=) c.559C>T (p.Leu187=) n.627C>T n.392C>T c.469C>T (p.Leu157=) n.516C>T c.4C>T (p.Leu2=) c.*35C>T (n.*35C>T) c.627C>T | gnomAD v4 |
| 14 | g.87976473G>C | CA7297284 | GALC | c.637C>G (p.Leu213Val) c.568C>G (p.Leu190Val) c.559C>G (p.Leu187Val) n.627C>G n.392C>G c.469C>G (p.Leu157Val) n.516C>G c.4C>G (p.Leu2Val) c.*35C>G (n.*35C>G) c.627C>G | dbSNP ExAC |
| 14 | g.87976473G= | CA2153381804 | GALC | c.637C= (p.Leu213=) c.568C= (p.Leu190=) c.559C= (p.Leu187=) n.627C= n.392C= c.469C= (p.Leu157=) n.516C= c.4C= (p.Leu2=) c.*35C= (n.*35C=) c.627C= | |
| 14 | g.87976473G>T | CA390749746 | GALC | c.637C>A (p.Leu213Met) c.568C>A (p.Leu190Met) c.559C>A (p.Leu187Met) n.627C>A n.392C>A c.469C>A (p.Leu157Met) n.516C>A c.4C>A (p.Leu2Met) c.*35C>A (n.*35C>A) c.627C>A | |
| 14 | g.87976474C>A | CA390749748 | GALC | c.636G>T (p.Met212Ile) c.567G>T (p.Met189Ile) c.558G>T (p.Met186Ile) n.626G>T n.391G>T c.468G>T (p.Met156Ile) n.515G>T c.3G>T (p.Met1Ile) c.*34G>T (n.*34G>T) c.626G>T | |
| 14 | g.87976474C>G | CA390749750 | GALC | c.636G>C (p.Met212Ile) c.567G>C (p.Met189Ile) c.558G>C (p.Met186Ile) n.626G>C n.391G>C c.468G>C (p.Met156Ile) n.515G>C c.3G>C (p.Met1Ile) c.*34G>C (n.*34G>C) c.626G>C | |
| 14 | g.87976474C>T | CA390749753 | GALC | c.636G>A (p.Met212Ile) c.567G>A (p.Met189Ile) c.558G>A (p.Met186Ile) n.626G>A n.391G>A c.468G>A (p.Met156Ile) n.515G>A c.3G>A (p.Met1Ile) c.*34G>A (n.*34G>A) c.626G>A | |
| 14 | g.87976475A= | CA2153381805 | GALC | c.635T= (p.Met212=) c.566T= (p.Met189=) c.557T= (p.Met186=) n.625T= n.390T= c.467T= (p.Met156=) n.514T= c.2T= (p.Met1=) c.*33T= (n.*33T=) c.625T= | |
| 14 | g.87976475A>C | CA390749755 | GALC | c.635T>G (p.Met212Arg) c.566T>G (p.Met189Arg) c.557T>G (p.Met186Arg) n.625T>G n.390T>G c.467T>G (p.Met156Arg) n.514T>G c.2T>G (p.Met1Arg) c.*33T>G (n.*33T>G) c.625T>G | |
| 14 | g.87976475A>G | CA390749761 | GALC | c.635T>C (p.Met212Thr) c.566T>C (p.Met189Thr) c.557T>C (p.Met186Thr) n.625T>C n.390T>C c.467T>C (p.Met156Thr) n.514T>C c.2T>C (p.Met1Thr) c.*33T>C (n.*33T>C) c.625T>C | ClinVar dbSNP |
| 14 | g.87976475A>T | CA390749763 | GALC | c.635T>A (p.Met212Lys) c.566T>A (p.Met189Lys) c.557T>A (p.Met186Lys) n.625T>A n.390T>A c.467T>A (p.Met156Lys) n.514T>A c.2T>A (p.Met1Lys) c.*33T>A (n.*33T>A) c.625T>A | |
| 14 | g.87976476T>A | CA390749767 | GALC | c.634A>T (p.Met212Leu) c.565A>T (p.Met189Leu) c.556A>T (p.Met186Leu) n.624A>T n.389A>T c.466A>T (p.Met156Leu) n.513A>T c.1A>T (p.Met1Leu) c.*32A>T (n.*32A>T) c.624A>T | |
| 14 | g.87976476T>C | CA390749769 | GALC | c.634A>G (p.Met212Val) c.565A>G (p.Met189Val) c.556A>G (p.Met186Val) n.624A>G n.389A>G c.466A>G (p.Met156Val) n.513A>G c.1A>G (p.Met1Val) c.*32A>G (n.*32A>G) c.624A>G | |
| 14 | g.87976476T>G | CA390749774 | GALC | c.634A>C (p.Met212Leu) c.565A>C (p.Met189Leu) c.556A>C (p.Met186Leu) n.624A>C n.389A>C c.466A>C (p.Met156Leu) n.513A>C c.1A>C (p.Met1Leu) c.*32A>C (n.*32A>C) c.624A>C | |
| 14 | g.87976477T>A | CA390749776 | GALC | c.633A>T (p.Lys211Asn) c.564A>T (p.Lys188Asn) c.555A>T (p.Lys185Asn) n.623A>T n.388A>T c.465A>T (p.Lys155Asn) n.512A>T c.-1A>T (n.-1A>T) c.*31A>T (n.*31A>T) c.623A>T | gnomAD v4 |
| 14 | g.87976477T>C | CA487366310 | GALC | c.633A>G (p.Lys211=) c.564A>G (p.Lys188=) c.555A>G (p.Lys185=) n.623A>G n.388A>G c.465A>G (p.Lys155=) n.512A>G c.-1A>G (n.-1A>G) c.*31A>G (n.*31A>G) c.623A>G | gnomAD v4 |
| 14 | g.87976477T>G | CA390749778 | GALC | c.633A>C (p.Lys211Asn) c.564A>C (p.Lys188Asn) c.555A>C (p.Lys185Asn) n.623A>C n.388A>C c.465A>C (p.Lys155Asn) n.512A>C c.-1A>C (n.-1A>C) c.*31A>C (n.*31A>C) c.623A>C | |
| 14 | g.87976478T>A | CA390749798 | GALC | c.632A>T (p.Lys211Ile) c.563A>T (p.Lys188Ile) c.554A>T (p.Lys185Ile) n.622A>T n.387A>T c.464A>T (p.Lys155Ile) n.511A>T c.-2A>T (n.-2A>T) c.*30A>T (n.*30A>T) c.622A>T | |
| 14 | g.87976478T>C | CA390749781 | GALC | c.632A>G (p.Lys211Arg) c.563A>G (p.Lys188Arg) c.554A>G (p.Lys185Arg) n.622A>G n.387A>G c.464A>G (p.Lys155Arg) n.511A>G c.-2A>G (n.-2A>G) c.*30A>G (n.*30A>G) c.622A>G | |
| 14 | g.87976478T>G | CA390749780 | GALC | c.632A>C (p.Lys211Thr) c.563A>C (p.Lys188Thr) c.554A>C (p.Lys185Thr) n.622A>C n.387A>C c.464A>C (p.Lys155Thr) n.511A>C c.-2A>C (n.-2A>C) c.*30A>C (n.*30A>C) c.622A>C | |
| 14 | g.87976479T>A | CA390749800 | GALC | c.631A>T (p.Lys211Ter) c.562A>T (p.Lys188Ter) c.553A>T (p.Lys185Ter) n.621A>T n.386A>T c.463A>T (p.Lys155Ter) n.510A>T c.-3A>T (n.-3A>T) c.*29A>T (n.*29A>T) c.621A>T | |
| 14 | g.87976479T>C | CA390749801 | GALC | c.631A>G (p.Lys211Glu) c.562A>G (p.Lys188Glu) c.553A>G (p.Lys185Glu) n.621A>G n.386A>G c.463A>G (p.Lys155Glu) n.510A>G c.-3A>G (n.-3A>G) c.*29A>G (n.*29A>G) c.621A>G | |
| 14 | g.87976479T>G | CA390749802 | GALC | c.631A>C (p.Lys211Gln) c.562A>C (p.Lys188Gln) c.553A>C (p.Lys185Gln) n.621A>C n.386A>C c.463A>C (p.Lys155Gln) n.510A>C c.-3A>C (n.-3A>C) c.*29A>C (n.*29A>C) c.621A>C | |
| 14 | g.87976480T>A | CA390749803 | GALC | c.630A>T (p.Arg210Ser) c.561A>T (p.Arg187Ser) c.552A>T (p.Arg184Ser) n.620A>T n.385A>T c.462A>T (p.Arg154Ser) n.509A>T c.-4A>T (n.-4A>T) c.*28A>T (n.*28A>T) c.620A>T | |
| 14 | g.87976480T>C | CA487366311 | GALC | c.630A>G (p.Arg210=) c.561A>G (p.Arg187=) c.552A>G (p.Arg184=) n.620A>G n.385A>G c.462A>G (p.Arg154=) n.509A>G c.-4A>G (n.-4A>G) c.*28A>G (n.*28A>G) c.620A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87976480T>G | CA390749804 | GALC | c.630A>C (p.Arg210Ser) c.561A>C (p.Arg187Ser) c.552A>C (p.Arg184Ser) n.620A>C n.385A>C c.462A>C (p.Arg154Ser) n.509A>C c.-4A>C (n.-4A>C) c.*28A>C (n.*28A>C) c.620A>C | gnomAD v4 |
| 14 | g.87976480T= | CA2153381806 | GALC | c.630A= (p.Arg210=) c.561A= (p.Arg187=) c.552A= (p.Arg184=) n.620A= n.385A= c.462A= (p.Arg154=) n.509A= c.-4A= (n.-4A=) c.*28A= (n.*28A=) c.620A= | |
| 14 | g.87976481C>A | CA390749805 | GALC | c.629G>T (p.Arg210Ile) c.560G>T (p.Arg187Ile) c.551G>T (p.Arg184Ile) n.619G>T n.384G>T c.461G>T (p.Arg154Ile) n.508G>T c.-5G>T (n.-5G>T) c.*27G>T (n.*27G>T) c.619G>T | |
| 14 | g.87976481C>G | CA390749806 | GALC | c.629G>C (p.Arg210Thr) c.560G>C (p.Arg187Thr) c.551G>C (p.Arg184Thr) n.619G>C n.384G>C c.461G>C (p.Arg154Thr) n.508G>C c.-5G>C (n.-5G>C) c.*27G>C (n.*27G>C) c.619G>C | |
| 14 | g.87976481C>T | CA390749808 | GALC | c.629G>A (p.Arg210Lys) c.560G>A (p.Arg187Lys) c.551G>A (p.Arg184Lys) n.619G>A n.384G>A c.461G>A (p.Arg154Lys) n.508G>A c.-5G>A (n.-5G>A) c.*27G>A (n.*27G>A) c.619G>A | gnomAD v4 |
| 14 | g.87976482T>A | CA7297285 | GALC | c.628A>T (p.Arg210Ter) c.559A>T (p.Arg187Ter) c.550A>T (p.Arg184Ter) n.618A>T n.383A>T c.460A>T (p.Arg154Ter) n.507A>T c.-6A>T (n.-6A>T) c.*26A>T (n.*26A>T) c.618A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976482T>C | CA390749809 | GALC | c.628A>G (p.Arg210Gly) c.559A>G (p.Arg187Gly) c.550A>G (p.Arg184Gly) n.618A>G n.383A>G c.460A>G (p.Arg154Gly) n.507A>G c.-6A>G (n.-6A>G) c.*26A>G (n.*26A>G) c.618A>G | |
| 14 | g.87976482T>G | CA487366312 | GALC | c.628A>C (p.Arg210=) c.559A>C (p.Arg187=) c.550A>C (p.Arg184=) n.618A>C n.383A>C c.460A>C (p.Arg154=) n.507A>C c.-6A>C (n.-6A>C) c.*26A>C (n.*26A>C) c.618A>C | |
| 14 | g.87976482T= | CA2153381807 | GALC | c.628A= (p.Arg210=) c.559A= (p.Arg187=) c.550A= (p.Arg184=) n.618A= n.383A= c.460A= (p.Arg154=) n.507A= c.-6A= (n.-6A=) c.*26A= (n.*26A=) c.618A= | |
| 14 | g.87976483T>A | CA390749812 | GALC | c.627A>T (p.Leu209Phe) c.558A>T (p.Leu186Phe) c.549A>T (p.Leu183Phe) n.617A>T n.382A>T c.459A>T (p.Leu153Phe) n.506A>T c.-7A>T (n.-7A>T) c.*25A>T (n.*25A>T) c.617A>T | |
| 14 | g.87976483T>C | CA487366313 | GALC | c.627A>G (p.Leu209=) c.558A>G (p.Leu186=) c.549A>G (p.Leu183=) n.617A>G n.382A>G c.459A>G (p.Leu153=) n.506A>G c.-7A>G (n.-7A>G) c.*25A>G (n.*25A>G) c.617A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.87976483T>G | CA390749814 | GALC | c.627A>C (p.Leu209Phe) c.558A>C (p.Leu186Phe) c.549A>C (p.Leu183Phe) n.617A>C n.382A>C c.459A>C (p.Leu153Phe) n.506A>C c.-7A>C (n.-7A>C) c.*25A>C (n.*25A>C) c.617A>C | |
| 14 | g.87976483T= | CA2153381808 | GALC | c.627A= (p.Leu209=) c.558A= (p.Leu186=) c.549A= (p.Leu183=) n.617A= n.382A= c.459A= (p.Leu153=) n.506A= c.-7A= (n.-7A=) c.*25A= (n.*25A=) c.617A= | |
| 14 | g.87976483_87976484insTTTA | CA615276330 | GALC | c.626_627insTAAA (p.Leu209PhefsTer20) c.557_558insTAAA (p.Leu186PhefsTer20) c.548_549insTAAA (p.Leu183PhefsTer20) n.616_617insTAAA n.381_382insTAAA c.458_459insTAAA (p.Leu153PhefsTer20) n.505_506insTAAA c.-8_-7insTAAA (n.-8_-7insTAAA) c.*24_*25insTAAA (n.*24_*25insTAAA) c.616_617insTAAA | dbSNP gnomAD v2 |
| 14 | g.87976484A>C | CA390749820 | GALC | c.626T>G (p.Leu209Ter) c.557T>G (p.Leu186Ter) c.548T>G (p.Leu183Ter) n.616T>G n.381T>G c.458T>G (p.Leu153Ter) n.505T>G c.-8T>G (n.-8T>G) c.*24T>G (n.*24T>G) c.616T>G | |
| 14 | g.87976484A>G | CA390749818 | GALC | c.626T>C (p.Leu209Ser) c.557T>C (p.Leu186Ser) c.548T>C (p.Leu183Ser) n.616T>C n.381T>C c.458T>C (p.Leu153Ser) n.505T>C c.-8T>C (n.-8T>C) c.*24T>C (n.*24T>C) c.616T>C | |
| 14 | g.87976484A>T | CA390749817 | GALC | c.626T>A (p.Leu209Ter) c.557T>A (p.Leu186Ter) c.548T>A (p.Leu183Ter) n.616T>A n.381T>A c.458T>A (p.Leu153Ter) n.505T>A c.-8T>A (n.-8T>A) c.*24T>A (n.*24T>A) c.616T>A | |
| 14 | g.87976485A= | CA2153381809 | GALC | c.625T= (p.Leu209=) c.556T= (p.Leu186=) c.547T= (p.Leu183=) n.615T= n.380T= c.457T= (p.Leu153=) n.504T= c.-9T= (n.-9T=) c.*23T= (n.*23T=) c.615T= | |
| 14 | g.87976485A>C | CA390749822 | GALC | c.625T>G (p.Leu209Val) c.556T>G (p.Leu186Val) c.547T>G (p.Leu183Val) n.615T>G n.380T>G c.457T>G (p.Leu153Val) n.504T>G c.-9T>G (n.-9T>G) c.*23T>G (n.*23T>G) c.615T>G | |
| 14 | g.87976485A>G | CA487366314 | GALC | c.625T>C (p.Leu209=) c.556T>C (p.Leu186=) c.547T>C (p.Leu183=) n.615T>C n.380T>C c.457T>C (p.Leu153=) n.504T>C c.-9T>C (n.-9T>C) c.*23T>C (n.*23T>C) c.615T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.87976485A>T | CA390749823 | GALC | c.625T>A (p.Leu209Ile) c.556T>A (p.Leu186Ile) c.547T>A (p.Leu183Ile) n.615T>A n.380T>A c.457T>A (p.Leu153Ile) n.504T>A c.-9T>A (n.-9T>A) c.*23T>A (n.*23T>A) c.615T>A | |
| 14 | g.87976486T>A | CA487366315 | GALC | c.624A>T (p.Ile208=) c.555A>T (p.Ile185=) c.546A>T (p.Ile182=) n.614A>T n.379A>T c.456A>T (p.Ile152=) n.503A>T c.-10A>T (n.-10A>T) c.*22A>T (n.*22A>T) c.614A>T | |
| 14 | g.87976486T>C | CA390749825 | GALC | c.624A>G (p.Ile208Met) c.555A>G (p.Ile185Met) c.546A>G (p.Ile182Met) n.614A>G n.379A>G c.456A>G (p.Ile152Met) n.503A>G c.-10A>G (n.-10A>G) c.*22A>G (n.*22A>G) c.614A>G | gnomAD v4 |
| 14 | g.87976486T>G | CA487366316 | GALC | c.624A>C (p.Ile208=) c.555A>C (p.Ile185=) c.546A>C (p.Ile182=) n.614A>C n.379A>C c.456A>C (p.Ile152=) n.503A>C c.-10A>C (n.-10A>C) c.*22A>C (n.*22A>C) c.614A>C | |
| 14 | g.87976487A= | CA2153381810 | GALC | c.623T= (p.Ile208=) c.554T= (p.Ile185=) c.545T= (p.Ile182=) n.613T= n.378T= c.455T= (p.Ile152=) n.502T= c.-11T= (n.-11T=) c.*21T= (n.*21T=) c.613T= | |
| 14 | g.87976487A>C | CA390749826 | GALC | c.623T>G (p.Ile208Arg) c.554T>G (p.Ile185Arg) c.545T>G (p.Ile182Arg) n.613T>G n.378T>G c.455T>G (p.Ile152Arg) n.502T>G c.-11T>G (n.-11T>G) c.*21T>G (n.*21T>G) c.613T>G | |
| 14 | g.87976487A>G | CA264708372 | GALC | c.623T>C (p.Ile208Thr) c.554T>C (p.Ile185Thr) c.545T>C (p.Ile182Thr) n.613T>C n.378T>C c.455T>C (p.Ile152Thr) n.502T>C c.-11T>C (n.-11T>C) c.*21T>C (n.*21T>C) c.613T>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87976487A>T | CA390749828 | GALC | c.623T>A (p.Ile208Lys) c.554T>A (p.Ile185Lys) c.545T>A (p.Ile182Lys) n.613T>A n.378T>A c.455T>A (p.Ile152Lys) n.502T>A c.-11T>A (n.-11T>A) c.*21T>A (n.*21T>A) c.613T>A | |
| 14 | g.87976488T>A | CA7297286 | GALC | c.622A>T (p.Ile208Leu) c.553A>T (p.Ile185Leu) c.544A>T (p.Ile182Leu) n.612A>T n.377A>T c.454A>T (p.Ile152Leu) n.501A>T c.-12A>T (n.-12A>T) c.*20A>T (n.*20A>T) c.612A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976488T>C | CA390749835 | GALC | c.622A>G (p.Ile208Val) c.553A>G (p.Ile185Val) c.544A>G (p.Ile182Val) n.612A>G n.377A>G c.454A>G (p.Ile152Val) n.501A>G c.-12A>G (n.-12A>G) c.*20A>G (n.*20A>G) c.612A>G | dbSNP gnomAD v4 |
| 14 | g.87976488T>G | CA390749840 | GALC | c.622A>C (p.Ile208Leu) c.553A>C (p.Ile185Leu) c.544A>C (p.Ile182Leu) n.612A>C n.377A>C c.454A>C (p.Ile152Leu) n.501A>C c.-12A>C (n.-12A>C) c.*20A>C (n.*20A>C) c.612A>C | |
| 14 | g.87976488T= | CA2153381811 | GALC | c.622A= (p.Ile208=) c.553A= (p.Ile185=) c.544A= (p.Ile182=) n.612A= n.377A= c.454A= (p.Ile152=) n.501A= c.-12A= (n.-12A=) c.*20A= (n.*20A=) c.612A= | |
| 14 | g.87976489_87976492dup | CA2695219639 | GALC | c.622-3_622dup c.553-3_553dup c.544-3_544dup n.612-3_612dup n.374_377dup c.454-3_454dup n.501-3_501dup c.-12-3_-12dup c.*20-3_*20dup c.612-3_612dup | |
| 14 | g.87976489C>A | CA390749842 | GALC | c.622-1G>T (n.622-1G>T) c.553-1G>T (n.553-1G>T) c.544-1G>T (n.544-1G>T) n.612-1G>T n.376G>T c.454-1G>T (n.454-1G>T) n.501-1G>T c.-12-1G>T (n.-12-1G>T) c.*20-1G>T (n.*20-1G>T) c.612-1G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87976489C= | CA2153381812 | GALC | c.622-1G= (n.622-1G=) c.553-1G= (n.553-1G=) c.544-1G= (n.544-1G=) n.612-1G= n.376G= c.454-1G= (n.454-1G=) n.501-1G= c.-12-1G= (n.-12-1G=) c.*20-1G= (n.*20-1G=) c.612-1G= | |
| 14 | g.87976489C>G | CA390749845 | GALC | c.622-1G>C (n.622-1G>C) c.553-1G>C (n.553-1G>C) c.544-1G>C (n.544-1G>C) n.612-1G>C n.376G>C c.454-1G>C (n.454-1G>C) n.501-1G>C c.-12-1G>C (n.-12-1G>C) c.*20-1G>C (n.*20-1G>C) c.612-1G>C | |
| 14 | g.87976489C>T | CA390749847 | GALC | c.622-1G>A (n.622-1G>A) c.553-1G>A (n.553-1G>A) c.544-1G>A (n.544-1G>A) n.612-1G>A n.376G>A c.454-1G>A (n.454-1G>A) n.501-1G>A c.-12-1G>A (n.-12-1G>A) c.*20-1G>A (n.*20-1G>A) c.612-1G>A | |
| 14 | g.87976490T>A | CA390749852 | GALC | c.622-2A>T (n.622-2A>T) c.553-2A>T (n.553-2A>T) c.544-2A>T (n.544-2A>T) n.612-2A>T n.375A>T c.454-2A>T (n.454-2A>T) n.501-2A>T c.-12-2A>T (n.-12-2A>T) c.*20-2A>T (n.*20-2A>T) c.612-2A>T | |
| 14 | g.87976490T>C | CA390749853 | GALC | c.622-2A>G (n.622-2A>G) c.553-2A>G (n.553-2A>G) c.544-2A>G (n.544-2A>G) n.612-2A>G n.375A>G c.454-2A>G (n.454-2A>G) n.501-2A>G c.-12-2A>G (n.-12-2A>G) c.*20-2A>G (n.*20-2A>G) c.612-2A>G | gnomAD v4 |
| 14 | g.87976490T>G | CA390749855 | GALC | c.622-2A>C (n.622-2A>C) c.553-2A>C (n.553-2A>C) c.544-2A>C (n.544-2A>C) n.612-2A>C n.375A>C c.454-2A>C (n.454-2A>C) n.501-2A>C c.-12-2A>C (n.-12-2A>C) c.*20-2A>C (n.*20-2A>C) c.612-2A>C | |
| 14 | g.87976493T>C | CA615276334 | GALC | c.622-5A>G (n.622-5A>G) c.553-5A>G (n.553-5A>G) c.544-5A>G (n.544-5A>G) n.612-5A>G n.372A>G c.454-5A>G (n.454-5A>G) n.501-5A>G c.-12-5A>G (n.-12-5A>G) c.*20-5A>G (n.*20-5A>G) c.612-5A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87976493T= | CA2153381813 | GALC | c.622-5A= (n.622-5A=) c.553-5A= (n.553-5A=) c.544-5A= (n.544-5A=) n.612-5A= n.372A= c.454-5A= (n.454-5A=) n.501-5A= c.-12-5A= (n.-12-5A=) c.*20-5A= (n.*20-5A=) c.612-5A= | |
| 14 | g.87976493_87976494del | CA2500853961 | GALC | c.622-6_622-5del (n.622-6_622-5del) c.553-6_553-5del (n.553-6_553-5del) c.544-6_544-5del (n.544-6_544-5del) n.612-6_612-5del n.371_372del c.454-6_454-5del (n.454-6_454-5del) n.501-6_501-5del c.-12-6_-12-5del (n.-12-6_-12-5del) c.*20-6_*20-5del (n.*20-6_*20-5del) c.612-6_612-5del | |
| 14 | g.87976495G>T | CA2580088854 | GALC | c.622-7C>A (n.622-7C>A) c.553-7C>A (n.553-7C>A) c.544-7C>A (n.544-7C>A) n.612-7C>A n.370C>A c.454-7C>A (n.454-7C>A) n.501-7C>A c.-12-7C>A (n.-12-7C>A) c.*20-7C>A (n.*20-7C>A) c.612-7C>A | ClinVar |
| 14 | g.87976496A>G | CA2697554059 | GALC | c.622-8T>C (n.622-8T>C) c.553-8T>C (n.553-8T>C) c.544-8T>C (n.544-8T>C) n.612-8T>C n.369T>C c.454-8T>C (n.454-8T>C) n.501-8T>C c.-12-8T>C (n.-12-8T>C) c.*20-8T>C (n.*20-8T>C) c.612-8T>C | ClinVar |
| 14 | g.87976498T>G | CA2499222770 | GALC | c.622-10A>C (n.622-10A>C) c.553-10A>C (n.553-10A>C) c.544-10A>C (n.544-10A>C) n.612-10A>C n.367A>C c.454-10A>C (n.454-10A>C) n.501-10A>C c.-12-10A>C (n.-12-10A>C) c.*20-10A>C (n.*20-10A>C) c.612-10A>C | ClinVar dbSNP |