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.87945504T>C | CA7296953 | GALC | c.1670+49A>G (n.1670+49A>G) c.1601+49A>G (n.1601+49A>G) c.1592+49A>G (n.1592+49A>G) c.1502+49A>G (n.1502+49A>G) c.1037+49A>G (n.1037+49A>G) c.206+2224A>G c.*1068+49A>G (n.*1068+49A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945504T= | CA2153356406 | GALC | c.1670+49A= (n.1670+49A=) c.1601+49A= (n.1601+49A=) c.1592+49A= (n.1592+49A=) c.1502+49A= (n.1502+49A=) c.1037+49A= (n.1037+49A=) c.206+2224A= c.*1068+49A= (n.*1068+49A=) | |
| 14 | g.87945507T>A | CA2625978999 | GALC | c.1670+46A>T (n.1670+46A>T) c.1601+46A>T (n.1601+46A>T) c.1592+46A>T (n.1592+46A>T) c.1502+46A>T (n.1502+46A>T) c.1037+46A>T (n.1037+46A>T) c.206+2221A>T c.*1068+46A>T (n.*1068+46A>T) | gnomAD v4 |
| 14 | g.87945509C>T | CA2625979000 | GALC | c.1670+44G>A (n.1670+44G>A) c.1601+44G>A (n.1601+44G>A) c.1592+44G>A (n.1592+44G>A) c.1502+44G>A (n.1502+44G>A) c.1037+44G>A (n.1037+44G>A) c.206+2219G>A c.*1068+44G>A (n.*1068+44G>A) | gnomAD v4 |
| 14 | g.87945510A>T | CA2625979001 | GALC | c.1670+43T>A (n.1670+43T>A) c.1601+43T>A (n.1601+43T>A) c.1592+43T>A (n.1592+43T>A) c.1502+43T>A (n.1502+43T>A) c.1037+43T>A (n.1037+43T>A) c.206+2218T>A c.*1068+43T>A (n.*1068+43T>A) | gnomAD v4 |
| 14 | g.87945511A= | CA2153356408 | GALC | c.1670+42T= (n.1670+42T=) c.1601+42T= (n.1601+42T=) c.1592+42T= (n.1592+42T=) c.1502+42T= (n.1502+42T=) c.1037+42T= (n.1037+42T=) c.206+2217T= c.*1068+42T= (n.*1068+42T=) | |
| 14 | g.87945511A>C | CA7296954 | GALC | c.1670+42T>G (n.1670+42T>G) c.1601+42T>G (n.1601+42T>G) c.1592+42T>G (n.1592+42T>G) c.1502+42T>G (n.1502+42T>G) c.1037+42T>G (n.1037+42T>G) c.206+2217T>G c.*1068+42T>G (n.*1068+42T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945512G>A | CA2625979002 | GALC | c.1670+41C>T (n.1670+41C>T) c.1601+41C>T (n.1601+41C>T) c.1592+41C>T (n.1592+41C>T) c.1502+41C>T (n.1502+41C>T) c.1037+41C>T (n.1037+41C>T) c.206+2216C>T c.*1068+41C>T (n.*1068+41C>T) | gnomAD v4 |
| 14 | g.87945512G>T | CA2625979003 | GALC | c.1670+41C>A (n.1670+41C>A) c.1601+41C>A (n.1601+41C>A) c.1592+41C>A (n.1592+41C>A) c.1502+41C>A (n.1502+41C>A) c.1037+41C>A (n.1037+41C>A) c.206+2216C>A c.*1068+41C>A (n.*1068+41C>A) | gnomAD v4 |
| 14 | g.87945513G>A | CA7296955 | GALC | c.1670+40C>T (n.1670+40C>T) c.1601+40C>T (n.1601+40C>T) c.1592+40C>T (n.1592+40C>T) c.1502+40C>T (n.1502+40C>T) c.1037+40C>T (n.1037+40C>T) c.206+2215C>T c.*1068+40C>T (n.*1068+40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945513G= | CA2153356411 | GALC | c.1670+40C= (n.1670+40C=) c.1601+40C= (n.1601+40C=) c.1592+40C= (n.1592+40C=) c.1502+40C= (n.1502+40C=) c.1037+40C= (n.1037+40C=) c.206+2215C= c.*1068+40C= (n.*1068+40C=) | |
| 14 | g.87945513G>T | CA2575595022 | GALC | c.1670+40C>A (n.1670+40C>A) c.1601+40C>A (n.1601+40C>A) c.1592+40C>A (n.1592+40C>A) c.1502+40C>A (n.1502+40C>A) c.1037+40C>A (n.1037+40C>A) c.206+2215C>A c.*1068+40C>A (n.*1068+40C>A) | gnomAD v4 |
| 14 | g.87945514G>A | CA2625979004 | GALC | c.1670+39C>T (n.1670+39C>T) c.1601+39C>T (n.1601+39C>T) c.1592+39C>T (n.1592+39C>T) c.1502+39C>T (n.1502+39C>T) c.1037+39C>T (n.1037+39C>T) c.206+2214C>T c.*1068+39C>T (n.*1068+39C>T) | gnomAD v4 |
| 14 | g.87945514G>C | CA2625979005 | GALC | c.1670+39C>G (n.1670+39C>G) c.1601+39C>G (n.1601+39C>G) c.1592+39C>G (n.1592+39C>G) c.1502+39C>G (n.1502+39C>G) c.1037+39C>G (n.1037+39C>G) c.206+2214C>G c.*1068+39C>G (n.*1068+39C>G) | gnomAD v4 |
| 14 | g.87945514G= | CA2153356413 | GALC | c.1670+39C= (n.1670+39C=) c.1601+39C= (n.1601+39C=) c.1592+39C= (n.1592+39C=) c.1502+39C= (n.1502+39C=) c.1037+39C= (n.1037+39C=) c.206+2214C= c.*1068+39C= (n.*1068+39C=) | |
| 14 | g.87945514G>T | CA2625979006 | GALC | c.1670+39C>A (n.1670+39C>A) c.1601+39C>A (n.1601+39C>A) c.1592+39C>A (n.1592+39C>A) c.1502+39C>A (n.1502+39C>A) c.1037+39C>A (n.1037+39C>A) c.206+2214C>A c.*1068+39C>A (n.*1068+39C>A) | gnomAD v4 |
| 14 | g.87945515T>C | CA2625979007 | GALC | c.1670+38A>G (n.1670+38A>G) c.1601+38A>G (n.1601+38A>G) c.1592+38A>G (n.1592+38A>G) c.1502+38A>G (n.1502+38A>G) c.1037+38A>G (n.1037+38A>G) c.206+2213A>G c.*1068+38A>G (n.*1068+38A>G) | gnomAD v4 |
| 14 | g.87945515dup | CA2153356414 | GALC | c.1670+38dup (n.1670+38dup) c.1601+38dup (n.1601+38dup) c.1592+38dup (n.1592+38dup) c.1502+38dup (n.1502+38dup) c.1037+38dup (n.1037+38dup) c.206+2213dup c.*1068+38dup (n.*1068+38dup) | dbSNP gnomAD v4 |
| 14 | g.87945517T>C | CA2575595025 | GALC | c.1670+36A>G (n.1670+36A>G) c.1601+36A>G (n.1601+36A>G) c.1592+36A>G (n.1592+36A>G) c.1502+36A>G (n.1502+36A>G) c.1037+36A>G (n.1037+36A>G) c.206+2211A>G c.*1068+36A>G (n.*1068+36A>G) | |
| 14 | g.87945519del | CA2575595024 | GALC | c.1670+36del (n.1670+36del) c.1601+36del (n.1601+36del) c.1592+36del (n.1592+36del) c.1502+36del (n.1502+36del) c.1037+36del (n.1037+36del) c.206+2211del c.*1068+36del (n.*1068+36del) | |
| 14 | g.87945520C>T | CA2625979008 | GALC | c.1670+33G>A (n.1670+33G>A) c.1601+33G>A (n.1601+33G>A) c.1592+33G>A (n.1592+33G>A) c.1502+33G>A (n.1502+33G>A) c.1037+33G>A (n.1037+33G>A) c.206+2208G>A c.*1068+33G>A (n.*1068+33G>A) | gnomAD v4 |
| 14 | g.87945521A= | CA2153356417 | GALC | c.1670+32T= (n.1670+32T=) c.1601+32T= (n.1601+32T=) c.1592+32T= (n.1592+32T=) c.1502+32T= (n.1502+32T=) c.1037+32T= (n.1037+32T=) c.206+2207T= c.*1068+32T= (n.*1068+32T=) | |
| 14 | g.87945521A>C | CA2802492045 | GALC | c.1670+32T>G (n.1670+32T>G) c.1601+32T>G (n.1601+32T>G) c.1592+32T>G (n.1592+32T>G) c.1502+32T>G (n.1502+32T>G) c.1037+32T>G (n.1037+32T>G) c.206+2207T>G c.*1068+32T>G (n.*1068+32T>G) | |
| 14 | g.87945521A>G | CA7296956 | GALC | c.1670+32T>C (n.1670+32T>C) c.1601+32T>C (n.1601+32T>C) c.1592+32T>C (n.1592+32T>C) c.1502+32T>C (n.1502+32T>C) c.1037+32T>C (n.1037+32T>C) c.206+2207T>C c.*1068+32T>C (n.*1068+32T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945521A>T | CA2625979009 | GALC | c.1670+32T>A (n.1670+32T>A) c.1601+32T>A (n.1601+32T>A) c.1592+32T>A (n.1592+32T>A) c.1502+32T>A (n.1502+32T>A) c.1037+32T>A (n.1037+32T>A) c.206+2207T>A c.*1068+32T>A (n.*1068+32T>A) | gnomAD v4 |
| 14 | g.87945522G>A | CA2153356420 | GALC | c.1670+31C>T (n.1670+31C>T) c.1601+31C>T (n.1601+31C>T) c.1592+31C>T (n.1592+31C>T) c.1502+31C>T (n.1502+31C>T) c.1037+31C>T (n.1037+31C>T) c.206+2206C>T c.*1068+31C>T (n.*1068+31C>T) | dbSNP gnomAD v4 |
| 14 | g.87945522G= | CA2153356421 | GALC | c.1670+31C= (n.1670+31C=) c.1601+31C= (n.1601+31C=) c.1592+31C= (n.1592+31C=) c.1502+31C= (n.1502+31C=) c.1037+31C= (n.1037+31C=) c.206+2206C= c.*1068+31C= (n.*1068+31C=) | |
| 14 | g.87945522G>T | CA2625979010 | GALC | c.1670+31C>A (n.1670+31C>A) c.1601+31C>A (n.1601+31C>A) c.1592+31C>A (n.1592+31C>A) c.1502+31C>A (n.1502+31C>A) c.1037+31C>A (n.1037+31C>A) c.206+2206C>A c.*1068+31C>A (n.*1068+31C>A) | gnomAD v4 |
| 14 | g.87945523C>T | CA2625979011 | GALC | c.1670+30G>A (n.1670+30G>A) c.1601+30G>A (n.1601+30G>A) c.1592+30G>A (n.1592+30G>A) c.1502+30G>A (n.1502+30G>A) c.1037+30G>A (n.1037+30G>A) c.206+2205G>A c.*1068+30G>A (n.*1068+30G>A) | gnomAD v4 |
| 14 | g.87945524C>A | CA2625979012 | GALC | c.1670+29G>T (n.1670+29G>T) c.1601+29G>T (n.1601+29G>T) c.1592+29G>T (n.1592+29G>T) c.1502+29G>T (n.1502+29G>T) c.1037+29G>T (n.1037+29G>T) c.206+2204G>T c.*1068+29G>T (n.*1068+29G>T) | gnomAD v4 |
| 14 | g.87945524C= | CA2153356424 | GALC | c.1670+29G= (n.1670+29G=) c.1601+29G= (n.1601+29G=) c.1592+29G= (n.1592+29G=) c.1502+29G= (n.1502+29G=) c.1037+29G= (n.1037+29G=) c.206+2204G= c.*1068+29G= (n.*1068+29G=) | |
| 14 | g.87945524C>T | CA7296957 | GALC | c.1670+29G>A (n.1670+29G>A) c.1601+29G>A (n.1601+29G>A) c.1592+29G>A (n.1592+29G>A) c.1502+29G>A (n.1502+29G>A) c.1037+29G>A (n.1037+29G>A) c.206+2204G>A c.*1068+29G>A (n.*1068+29G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945525A>G | CA2625979013 | GALC | c.1670+28T>C (n.1670+28T>C) c.1601+28T>C (n.1601+28T>C) c.1592+28T>C (n.1592+28T>C) c.1502+28T>C (n.1502+28T>C) c.1037+28T>C (n.1037+28T>C) c.206+2203T>C c.*1068+28T>C (n.*1068+28T>C) | gnomAD v4 |
| 14 | g.87945526G>A | CA2625979014 | GALC | c.1670+27C>T (n.1670+27C>T) c.1601+27C>T (n.1601+27C>T) c.1592+27C>T (n.1592+27C>T) c.1502+27C>T (n.1502+27C>T) c.1037+27C>T (n.1037+27C>T) c.206+2202C>T c.*1068+27C>T (n.*1068+27C>T) | gnomAD v4 |
| 14 | g.87945526G>C | CA2625979015 | GALC | c.1670+27C>G (n.1670+27C>G) c.1601+27C>G (n.1601+27C>G) c.1592+27C>G (n.1592+27C>G) c.1502+27C>G (n.1502+27C>G) c.1037+27C>G (n.1037+27C>G) c.206+2202C>G c.*1068+27C>G (n.*1068+27C>G) | gnomAD v4 |
| 14 | g.87945526G>T | CA2625979016 | GALC | c.1670+27C>A (n.1670+27C>A) c.1601+27C>A (n.1601+27C>A) c.1592+27C>A (n.1592+27C>A) c.1502+27C>A (n.1502+27C>A) c.1037+27C>A (n.1037+27C>A) c.206+2202C>A c.*1068+27C>A (n.*1068+27C>A) | gnomAD v4 |
| 14 | g.87945527A>T | CA2575595027 | GALC | c.1670+26T>A (n.1670+26T>A) c.1601+26T>A (n.1601+26T>A) c.1592+26T>A (n.1592+26T>A) c.1502+26T>A (n.1502+26T>A) c.1037+26T>A (n.1037+26T>A) c.206+2201T>A c.*1068+26T>A (n.*1068+26T>A) | |
| 14 | g.87945528T>A | CA2625979017 | GALC | c.1670+25A>T (n.1670+25A>T) c.1601+25A>T (n.1601+25A>T) c.1592+25A>T (n.1592+25A>T) c.1502+25A>T (n.1502+25A>T) c.1037+25A>T (n.1037+25A>T) c.206+2200A>T c.*1068+25A>T (n.*1068+25A>T) | gnomAD v4 |
| 14 | g.87945528T>C | CA2625979018 | GALC | c.1670+25A>G (n.1670+25A>G) c.1601+25A>G (n.1601+25A>G) c.1592+25A>G (n.1592+25A>G) c.1502+25A>G (n.1502+25A>G) c.1037+25A>G (n.1037+25A>G) c.206+2200A>G c.*1068+25A>G (n.*1068+25A>G) | gnomAD v4 |
| 14 | g.87945530del | CA2625979019 | GALC | c.1670+24del (n.1670+24del) c.1601+24del (n.1601+24del) c.1592+24del (n.1592+24del) c.1502+24del (n.1502+24del) c.1037+24del (n.1037+24del) c.206+2199del c.*1068+24del (n.*1068+24del) | gnomAD v4 |
| 14 | g.87945530C>A | CA2625979020 | GALC | c.1670+23G>T (n.1670+23G>T) c.1601+23G>T (n.1601+23G>T) c.1592+23G>T (n.1592+23G>T) c.1502+23G>T (n.1502+23G>T) c.1037+23G>T (n.1037+23G>T) c.206+2198G>T c.*1068+23G>T (n.*1068+23G>T) | gnomAD v4 |
| 14 | g.87945530C>T | CA2625979021 | GALC | c.1670+23G>A (n.1670+23G>A) c.1601+23G>A (n.1601+23G>A) c.1592+23G>A (n.1592+23G>A) c.1502+23G>A (n.1502+23G>A) c.1037+23G>A (n.1037+23G>A) c.206+2198G>A c.*1068+23G>A (n.*1068+23G>A) | dbSNP gnomAD v4 |
| 14 | g.87945532del | CA2575595028 | GALC | c.1670+21del (n.1670+21del) c.1601+21del (n.1601+21del) c.1592+21del (n.1592+21del) c.1502+21del (n.1502+21del) c.1037+21del (n.1037+21del) c.206+2196del c.*1068+21del (n.*1068+21del) | |
| 14 | g.87945532C= | CA2153356426 | GALC | c.1670+21G= (n.1670+21G=) c.1601+21G= (n.1601+21G=) c.1592+21G= (n.1592+21G=) c.1502+21G= (n.1502+21G=) c.1037+21G= (n.1037+21G=) c.206+2196G= c.*1068+21G= (n.*1068+21G=) | |
| 14 | g.87945532C>T | CA2153356427 | GALC | c.1670+21G>A (n.1670+21G>A) c.1601+21G>A (n.1601+21G>A) c.1592+21G>A (n.1592+21G>A) c.1502+21G>A (n.1502+21G>A) c.1037+21G>A (n.1037+21G>A) c.206+2196G>A c.*1068+21G>A (n.*1068+21G>A) | dbSNP gnomAD v4 |
| 14 | g.87945533A= | CA2153356428 | GALC | c.1670+20T= (n.1670+20T=) c.1601+20T= (n.1601+20T=) c.1592+20T= (n.1592+20T=) c.1502+20T= (n.1502+20T=) c.1037+20T= (n.1037+20T=) c.206+2195T= c.*1068+20T= (n.*1068+20T=) | |
| 14 | g.87945533A>G | CA7296958 | GALC | c.1670+20T>C (n.1670+20T>C) c.1601+20T>C (n.1601+20T>C) c.1592+20T>C (n.1592+20T>C) c.1502+20T>C (n.1502+20T>C) c.1037+20T>C (n.1037+20T>C) c.206+2195T>C c.*1068+20T>C (n.*1068+20T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945534T>A | CA7296959 | GALC | c.1670+19A>T (n.1670+19A>T) c.1601+19A>T (n.1601+19A>T) c.1592+19A>T (n.1592+19A>T) c.1502+19A>T (n.1502+19A>T) c.1037+19A>T (n.1037+19A>T) c.206+2194A>T c.*1068+19A>T (n.*1068+19A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945534T>C | CA7296960 | GALC | c.1670+19A>G (n.1670+19A>G) c.1601+19A>G (n.1601+19A>G) c.1592+19A>G (n.1592+19A>G) c.1502+19A>G (n.1502+19A>G) c.1037+19A>G (n.1037+19A>G) c.206+2194A>G c.*1068+19A>G (n.*1068+19A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945534T>G | CA709649588 | GALC | c.1670+19A>C (n.1670+19A>C) c.1601+19A>C (n.1601+19A>C) c.1592+19A>C (n.1592+19A>C) c.1502+19A>C (n.1502+19A>C) c.1037+19A>C (n.1037+19A>C) c.206+2194A>C c.*1068+19A>C (n.*1068+19A>C) | dbSNP |
| 14 | g.87945534T= | CA2153356432 | GALC | c.1670+19A= (n.1670+19A=) c.1601+19A= (n.1601+19A=) c.1592+19A= (n.1592+19A=) c.1502+19A= (n.1502+19A=) c.1037+19A= (n.1037+19A=) c.206+2194A= c.*1068+19A= (n.*1068+19A=) | |
| 14 | g.87945536G>A | CA615670048 | GALC | c.1670+17C>T (n.1670+17C>T) c.1601+17C>T (n.1601+17C>T) c.1592+17C>T (n.1592+17C>T) c.1502+17C>T (n.1502+17C>T) c.1037+17C>T (n.1037+17C>T) c.206+2192C>T c.*1068+17C>T (n.*1068+17C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945536G= | CA2153356441 | GALC | c.1670+17C= (n.1670+17C=) c.1601+17C= (n.1601+17C=) c.1592+17C= (n.1592+17C=) c.1502+17C= (n.1502+17C=) c.1037+17C= (n.1037+17C=) c.206+2192C= c.*1068+17C= (n.*1068+17C=) | |
| 14 | g.87945536G>T | CA2625979022 | GALC | c.1670+17C>A (n.1670+17C>A) c.1601+17C>A (n.1601+17C>A) c.1592+17C>A (n.1592+17C>A) c.1502+17C>A (n.1502+17C>A) c.1037+17C>A (n.1037+17C>A) c.206+2192C>A c.*1068+17C>A (n.*1068+17C>A) | gnomAD v4 |
| 14 | g.87945537A>G | CA2625979023 | GALC | c.1670+16T>C (n.1670+16T>C) c.1601+16T>C (n.1601+16T>C) c.1592+16T>C (n.1592+16T>C) c.1502+16T>C (n.1502+16T>C) c.1037+16T>C (n.1037+16T>C) c.206+2191T>C c.*1068+16T>C (n.*1068+16T>C) | gnomAD v4 |
| 14 | g.87945538G>T | CA2625979024 | GALC | c.1670+15C>A (n.1670+15C>A) c.1601+15C>A (n.1601+15C>A) c.1592+15C>A (n.1592+15C>A) c.1502+15C>A (n.1502+15C>A) c.1037+15C>A (n.1037+15C>A) c.206+2190C>A c.*1068+15C>A (n.*1068+15C>A) | gnomAD v4 |
| 14 | g.87945539A>G | CA2625979025 | GALC | c.1670+14T>C (n.1670+14T>C) c.1601+14T>C (n.1601+14T>C) c.1592+14T>C (n.1592+14T>C) c.1502+14T>C (n.1502+14T>C) c.1037+14T>C (n.1037+14T>C) c.206+2189T>C c.*1068+14T>C (n.*1068+14T>C) | gnomAD v4 |
| 14 | g.87945540A>G | CA2625979026 | GALC | c.1670+13T>C (n.1670+13T>C) c.1601+13T>C (n.1601+13T>C) c.1592+13T>C (n.1592+13T>C) c.1502+13T>C (n.1502+13T>C) c.1037+13T>C (n.1037+13T>C) c.206+2188T>C c.*1068+13T>C (n.*1068+13T>C) | gnomAD v4 |
| 14 | g.87945541C>T | CA2625979027 | GALC | c.1670+12G>A (n.1670+12G>A) c.1601+12G>A (n.1601+12G>A) c.1592+12G>A (n.1592+12G>A) c.1502+12G>A (n.1502+12G>A) c.1037+12G>A (n.1037+12G>A) c.206+2187G>A c.*1068+12G>A (n.*1068+12G>A) | gnomAD v4 |
| 14 | g.87945542A= | CA2153356444 | GALC | c.1670+11T= (n.1670+11T=) c.1601+11T= (n.1601+11T=) c.1592+11T= (n.1592+11T=) c.1502+11T= (n.1502+11T=) c.1037+11T= (n.1037+11T=) c.206+2186T= c.*1068+11T= (n.*1068+11T=) | |
| 14 | g.87945542A>G | CA2153356445 | GALC | c.1670+11T>C (n.1670+11T>C) c.1601+11T>C (n.1601+11T>C) c.1592+11T>C (n.1592+11T>C) c.1502+11T>C (n.1502+11T>C) c.1037+11T>C (n.1037+11T>C) c.206+2186T>C c.*1068+11T>C (n.*1068+11T>C) | dbSNP gnomAD v4 |
| 14 | g.87945543T>C | CA264683597 | GALC | c.1670+10A>G (n.1670+10A>G) c.1601+10A>G (n.1601+10A>G) c.1592+10A>G (n.1592+10A>G) c.1502+10A>G (n.1502+10A>G) c.1037+10A>G (n.1037+10A>G) c.206+2185A>G c.*1068+10A>G (n.*1068+10A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945543T= | CA2153356448 | GALC | c.1670+10A= (n.1670+10A=) c.1601+10A= (n.1601+10A=) c.1592+10A= (n.1592+10A=) c.1502+10A= (n.1502+10A=) c.1037+10A= (n.1037+10A=) c.206+2185A= c.*1068+10A= (n.*1068+10A=) | |
| 14 | g.87945544C>G | CA2802492046 | GALC | c.1670+9G>C (n.1670+9G>C) c.1601+9G>C (n.1601+9G>C) c.1592+9G>C (n.1592+9G>C) c.1502+9G>C (n.1502+9G>C) c.1037+9G>C (n.1037+9G>C) c.206+2184G>C c.*1068+9G>C (n.*1068+9G>C) | |
| 14 | g.87945545A= | CA2153356453 | GALC | c.1670+8T= (n.1670+8T=) c.1601+8T= (n.1601+8T=) c.1592+8T= (n.1592+8T=) c.1502+8T= (n.1502+8T=) c.1037+8T= (n.1037+8T=) c.206+2183T= c.*1068+8T= (n.*1068+8T=) | |
| 14 | g.87945545A>C | CA615670049 | GALC | c.1670+8T>G (n.1670+8T>G) c.1601+8T>G (n.1601+8T>G) c.1592+8T>G (n.1592+8T>G) c.1502+8T>G (n.1502+8T>G) c.1037+8T>G (n.1037+8T>G) c.206+2183T>G c.*1068+8T>G (n.*1068+8T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945545A>G | CA2625979028 | GALC | c.1670+8T>C (n.1670+8T>C) c.1601+8T>C (n.1601+8T>C) c.1592+8T>C (n.1592+8T>C) c.1502+8T>C (n.1502+8T>C) c.1037+8T>C (n.1037+8T>C) c.206+2183T>C c.*1068+8T>C (n.*1068+8T>C) | gnomAD v4 |
| 14 | g.87945545A>T | CA7296961 | GALC | c.1670+8T>A (n.1670+8T>A) c.1601+8T>A (n.1601+8T>A) c.1592+8T>A (n.1592+8T>A) c.1502+8T>A (n.1502+8T>A) c.1037+8T>A (n.1037+8T>A) c.206+2183T>A c.*1068+8T>A (n.*1068+8T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945546A= | CA2153356455 | GALC | c.1670+7T= (n.1670+7T=) c.1601+7T= (n.1601+7T=) c.1592+7T= (n.1592+7T=) c.1502+7T= (n.1502+7T=) c.1037+7T= (n.1037+7T=) c.206+2182T= c.*1068+7T= (n.*1068+7T=) | |
| 14 | g.87945546A>G | CA2153356457 | GALC | c.1670+7T>C (n.1670+7T>C) c.1601+7T>C (n.1601+7T>C) c.1592+7T>C (n.1592+7T>C) c.1502+7T>C (n.1502+7T>C) c.1037+7T>C (n.1037+7T>C) c.206+2182T>C c.*1068+7T>C (n.*1068+7T>C) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87945547T>A | CA2625979029 | GALC | c.1670+6A>T (n.1670+6A>T) c.1601+6A>T (n.1601+6A>T) c.1592+6A>T (n.1592+6A>T) c.1502+6A>T (n.1502+6A>T) c.1037+6A>T (n.1037+6A>T) c.206+2181A>T c.*1068+6A>T (n.*1068+6A>T) | dbSNP gnomAD v4 |
| 14 | g.87945547T>C | CA264683605 | GALC | c.1670+6A>G (n.1670+6A>G) c.1601+6A>G (n.1601+6A>G) c.1592+6A>G (n.1592+6A>G) c.1502+6A>G (n.1502+6A>G) c.1037+6A>G (n.1037+6A>G) c.206+2181A>G c.*1068+6A>G (n.*1068+6A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945547T= | CA2153356460 | GALC | c.1670+6A= (n.1670+6A=) c.1601+6A= (n.1601+6A=) c.1592+6A= (n.1592+6A=) c.1502+6A= (n.1502+6A=) c.1037+6A= (n.1037+6A=) c.206+2181A= c.*1068+6A= (n.*1068+6A=) | |
| 14 | g.87945550T>C | CA2625979030 | GALC | c.1670+3A>G (n.1670+3A>G) c.1601+3A>G (n.1601+3A>G) c.1592+3A>G (n.1592+3A>G) c.1502+3A>G (n.1502+3A>G) c.1037+3A>G (n.1037+3A>G) c.206+2178A>G c.*1068+3A>G (n.*1068+3A>G) | gnomAD v4 |
| 14 | g.87945551A>C | CA390745937 | GALC | c.1670+2T>G (n.1670+2T>G) c.1601+2T>G (n.1601+2T>G) c.1592+2T>G (n.1592+2T>G) c.1502+2T>G (n.1502+2T>G) c.1037+2T>G (n.1037+2T>G) c.206+2177T>G c.*1068+2T>G (n.*1068+2T>G) | |
| 14 | g.87945551A>G | CA390745938 | GALC | c.1670+2T>C (n.1670+2T>C) c.1601+2T>C (n.1601+2T>C) c.1592+2T>C (n.1592+2T>C) c.1502+2T>C (n.1502+2T>C) c.1037+2T>C (n.1037+2T>C) c.206+2177T>C c.*1068+2T>C (n.*1068+2T>C) | |
| 14 | g.87945551A>T | CA390745939 | GALC | c.1670+2T>A (n.1670+2T>A) c.1601+2T>A (n.1601+2T>A) c.1592+2T>A (n.1592+2T>A) c.1502+2T>A (n.1502+2T>A) c.1037+2T>A (n.1037+2T>A) c.206+2177T>A c.*1068+2T>A (n.*1068+2T>A) | |
| 14 | g.87945552C>A | CA390745940 | GALC | c.1670+1G>T (n.1670+1G>T) c.1601+1G>T (n.1601+1G>T) c.1592+1G>T (n.1592+1G>T) c.1502+1G>T (n.1502+1G>T) c.1037+1G>T (n.1037+1G>T) c.206+2176G>T c.*1068+1G>T (n.*1068+1G>T) | ClinVar dbSNP |
| 14 | g.87945552C= | CA2153356466 | GALC | c.1670+1G= (n.1670+1G=) c.1601+1G= (n.1601+1G=) c.1592+1G= (n.1592+1G=) c.1502+1G= (n.1502+1G=) c.1037+1G= (n.1037+1G=) c.206+2176G= c.*1068+1G= (n.*1068+1G=) | |
| 14 | g.87945552C>G | CA390745941 | GALC | c.1670+1G>C (n.1670+1G>C) c.1601+1G>C (n.1601+1G>C) c.1592+1G>C (n.1592+1G>C) c.1502+1G>C (n.1502+1G>C) c.1037+1G>C (n.1037+1G>C) c.206+2176G>C c.*1068+1G>C (n.*1068+1G>C) | |
| 14 | g.87945552C>T | CA7296962 | GALC | c.1670+1G>A (n.1670+1G>A) c.1601+1G>A (n.1601+1G>A) c.1592+1G>A (n.1592+1G>A) c.1502+1G>A (n.1502+1G>A) c.1037+1G>A (n.1037+1G>A) c.206+2176G>A c.*1068+1G>A (n.*1068+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945553C>A | CA390745942 | GALC | c.1670G>T (p.Trp557Leu) c.1601G>T (p.Trp534Leu) c.1592G>T (p.Trp531Leu) c.1502G>T (p.Trp501Leu) c.1037G>T (p.Trp346Leu) c.206+2175G>T c.*1068G>T (n.*1068G>T) | |
| 14 | g.87945553C>G | CA390745943 | GALC | c.1670G>C (p.Trp557Ser) c.1601G>C (p.Trp534Ser) c.1592G>C (p.Trp531Ser) c.1502G>C (p.Trp501Ser) c.1037G>C (p.Trp346Ser) c.206+2175G>C c.*1068G>C (n.*1068G>C) | |
| 14 | g.87945553C>T | CA390745944 | GALC | c.1670G>A (p.Trp557Ter) c.1601G>A (p.Trp534Ter) c.1592G>A (p.Trp531Ter) c.1502G>A (p.Trp501Ter) c.1037G>A (p.Trp346Ter) c.206+2175G>A c.*1068G>A (n.*1068G>A) | |
| 14 | g.87945554A>C | CA390745945 | GALC | c.1669T>G (p.Trp557Gly) c.1600T>G (p.Trp534Gly) c.1591T>G (p.Trp531Gly) c.1501T>G (p.Trp501Gly) c.1036T>G (p.Trp346Gly) c.206+2174T>G c.*1067T>G (n.*1067T>G) | |
| 14 | g.87945554A>G | CA390745946 | GALC | c.1669T>C (p.Trp557Arg) c.1600T>C (p.Trp534Arg) c.1591T>C (p.Trp531Arg) c.1501T>C (p.Trp501Arg) c.1036T>C (p.Trp346Arg) c.206+2174T>C c.*1067T>C (n.*1067T>C) | COSMIC COSMIC |
| 14 | g.87945554A>T | CA390745947 | GALC | c.1669T>A (p.Trp557Arg) c.1600T>A (p.Trp534Arg) c.1591T>A (p.Trp531Arg) c.1501T>A (p.Trp501Arg) c.1036T>A (p.Trp346Arg) c.206+2174T>A c.*1067T>A (n.*1067T>A) | |
| 14 | g.87945555G>A | CA487355478 | GALC | c.1668C>T (p.Asn556=) c.1599C>T (p.Asn533=) c.1590C>T (p.Asn530=) c.1500C>T (p.Asn500=) c.1035C>T (p.Asn345=) c.206+2173C>T c.*1066C>T (n.*1066C>T) | gnomAD v4 |
| 14 | g.87945555G>C | CA390745949 | GALC | c.1668C>G (p.Asn556Lys) c.1599C>G (p.Asn533Lys) c.1590C>G (p.Asn530Lys) c.1500C>G (p.Asn500Lys) c.1035C>G (p.Asn345Lys) c.206+2173C>G c.*1066C>G (n.*1066C>G) | |
| 14 | g.87945555G>T | CA390745948 | GALC | c.1668C>A (p.Asn556Lys) c.1599C>A (p.Asn533Lys) c.1590C>A (p.Asn530Lys) c.1500C>A (p.Asn500Lys) c.1035C>A (p.Asn345Lys) c.206+2173C>A c.*1066C>A (n.*1066C>A) | gnomAD v4 |
| 14 | g.87945556T>A | CA390745950 | GALC | c.1667A>T (p.Asn556Ile) c.1598A>T (p.Asn533Ile) c.1589A>T (p.Asn530Ile) c.1499A>T (p.Asn500Ile) c.1034A>T (p.Asn345Ile) c.206+2172A>T c.*1065A>T (n.*1065A>T) | |
| 14 | g.87945556T>C | CA390745951 | GALC | c.1667A>G (p.Asn556Ser) c.1598A>G (p.Asn533Ser) c.1589A>G (p.Asn530Ser) c.1499A>G (p.Asn500Ser) c.1034A>G (p.Asn345Ser) c.206+2172A>G c.*1065A>G (n.*1065A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945556T>G | CA390745952 | GALC | c.1667A>C (p.Asn556Thr) c.1598A>C (p.Asn533Thr) c.1589A>C (p.Asn530Thr) c.1499A>C (p.Asn500Thr) c.1034A>C (p.Asn345Thr) c.206+2172A>C c.*1065A>C (n.*1065A>C) | |
| 14 | g.87945556T= | CA2153356470 | GALC | c.1667A= (p.Asn556=) c.1598A= (p.Asn533=) c.1589A= (p.Asn530=) c.1499A= (p.Asn500=) c.1034A= (p.Asn345=) c.206+2172A= c.*1065A= (n.*1065A=) | |
| 14 | g.87945557T>A | CA390745953 | GALC | c.1666A>T (p.Asn556Tyr) c.1597A>T (p.Asn533Tyr) c.1588A>T (p.Asn530Tyr) c.1498A>T (p.Asn500Tyr) c.1033A>T (p.Asn345Tyr) c.206+2171A>T c.*1064A>T (n.*1064A>T) | |
| 14 | g.87945557T>C | CA390745954 | GALC | c.1666A>G (p.Asn556Asp) c.1597A>G (p.Asn533Asp) c.1588A>G (p.Asn530Asp) c.1498A>G (p.Asn500Asp) c.1033A>G (p.Asn345Asp) c.206+2171A>G c.*1064A>G (n.*1064A>G) | gnomAD v4 |
| 14 | g.87945557T>G | CA390745955 | GALC | c.1666A>C (p.Asn556His) c.1597A>C (p.Asn533His) c.1588A>C (p.Asn530His) c.1498A>C (p.Asn500His) c.1033A>C (p.Asn345His) c.206+2171A>C c.*1064A>C (n.*1064A>C) | |
| 14 | g.87945558G>A | CA487355479 | GALC | c.1665C>T (p.Tyr555=) c.1596C>T (p.Tyr532=) c.1587C>T (p.Tyr529=) c.1497C>T (p.Tyr499=) c.1032C>T (p.Tyr344=) c.206+2170C>T c.*1063C>T (n.*1063C>T) | gnomAD v4 |
| 14 | g.87945558G>C | CA390745957 | GALC | c.1665C>G (p.Tyr555Ter) c.1596C>G (p.Tyr532Ter) c.1587C>G (p.Tyr529Ter) c.1497C>G (p.Tyr499Ter) c.1032C>G (p.Tyr344Ter) c.206+2170C>G c.*1063C>G (n.*1063C>G) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87945558G= | CA2153356472 | GALC | c.1665C= (p.Tyr555=) c.1596C= (p.Tyr532=) c.1587C= (p.Tyr529=) c.1497C= (p.Tyr499=) c.1032C= (p.Tyr344=) c.206+2170C= c.*1063C= (n.*1063C=) | |
| 14 | g.87945558G>T | CA390745956 | GALC | c.1665C>A (p.Tyr555Ter) c.1596C>A (p.Tyr532Ter) c.1587C>A (p.Tyr529Ter) c.1497C>A (p.Tyr499Ter) c.1032C>A (p.Tyr344Ter) c.206+2170C>A c.*1063C>A (n.*1063C>A) | gnomAD v4 |
| 14 | g.87945559T>A | CA390745958 | GALC | c.1664A>T (p.Tyr555Phe) c.1595A>T (p.Tyr532Phe) c.1586A>T (p.Tyr529Phe) c.1496A>T (p.Tyr499Phe) c.1031A>T (p.Tyr344Phe) c.206+2169A>T c.*1062A>T (n.*1062A>T) | gnomAD v4 |
| 14 | g.87945559T>C | CA390745959 | GALC | c.1664A>G (p.Tyr555Cys) c.1595A>G (p.Tyr532Cys) c.1586A>G (p.Tyr529Cys) c.1496A>G (p.Tyr499Cys) c.1031A>G (p.Tyr344Cys) c.206+2169A>G c.*1062A>G (n.*1062A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945559T>G | CA390745960 | GALC | c.1664A>C (p.Tyr555Ser) c.1595A>C (p.Tyr532Ser) c.1586A>C (p.Tyr529Ser) c.1496A>C (p.Tyr499Ser) c.1031A>C (p.Tyr344Ser) c.206+2169A>C c.*1062A>C (n.*1062A>C) | |
| 14 | g.87945559T= | CA2153356477 | GALC | c.1664A= (p.Tyr555=) c.1595A= (p.Tyr532=) c.1586A= (p.Tyr529=) c.1496A= (p.Tyr499=) c.1031A= (p.Tyr344=) c.206+2169A= c.*1062A= (n.*1062A=) | |
| 14 | g.87945560A>C | CA390745961 | GALC | c.1663T>G (p.Tyr555Asp) c.1594T>G (p.Tyr532Asp) c.1585T>G (p.Tyr529Asp) c.1495T>G (p.Tyr499Asp) c.1030T>G (p.Tyr344Asp) c.206+2168T>G c.*1061T>G (n.*1061T>G) | |
| 14 | g.87945560A>G | CA390745962 | GALC | c.1663T>C (p.Tyr555His) c.1594T>C (p.Tyr532His) c.1585T>C (p.Tyr529His) c.1495T>C (p.Tyr499His) c.1030T>C (p.Tyr344His) c.206+2168T>C c.*1061T>C (n.*1061T>C) | gnomAD v4 |
| 14 | g.87945560A>T | CA390745963 | GALC | c.1663T>A (p.Tyr555Asn) c.1594T>A (p.Tyr532Asn) c.1585T>A (p.Tyr529Asn) c.1495T>A (p.Tyr499Asn) c.1030T>A (p.Tyr344Asn) c.206+2168T>A c.*1061T>A (n.*1061T>A) | |
| 14 | g.87945561del | CA2625979031 | GALC | c.1662del (p.Tyr555ThrfsTer6) c.1593del (p.Tyr532ThrfsTer6) c.1584del (p.Tyr529ThrfsTer6) c.1494del (p.Tyr499ThrfsTer6) c.1029del (p.Tyr344ThrfsTer6) c.206+2167del c.*1060del (n.*1060del) | gnomAD v4 |
| 14 | g.87945561G>A | CA7296963 | GALC | c.1662C>T (p.Asp554=) c.1593C>T (p.Asp531=) c.1584C>T (p.Asp528=) c.1494C>T (p.Asp498=) c.1029C>T (p.Asp343=) c.206+2167C>T c.*1060C>T (n.*1060C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945561G>C | CA390745964 | GALC | c.1662C>G (p.Asp554Glu) c.1593C>G (p.Asp531Glu) c.1584C>G (p.Asp528Glu) c.1494C>G (p.Asp498Glu) c.1029C>G (p.Asp343Glu) c.206+2167C>G c.*1060C>G (n.*1060C>G) | gnomAD v4 |
| 14 | g.87945561G= | CA2153356480 | GALC | c.1662C= (p.Asp554=) c.1593C= (p.Asp531=) c.1584C= (p.Asp528=) c.1494C= (p.Asp498=) c.1029C= (p.Asp343=) c.206+2167C= c.*1060C= (n.*1060C=) | |
| 14 | g.87945561G>T | CA390745965 | GALC | c.1662C>A (p.Asp554Glu) c.1593C>A (p.Asp531Glu) c.1584C>A (p.Asp528Glu) c.1494C>A (p.Asp498Glu) c.1029C>A (p.Asp343Glu) c.206+2167C>A c.*1060C>A (n.*1060C>A) | gnomAD v4 |
| 14 | g.87945562T>A | CA390745966 | GALC | c.1661A>T (p.Asp554Val) c.1592A>T (p.Asp531Val) c.1583A>T (p.Asp528Val) c.1493A>T (p.Asp498Val) c.1028A>T (p.Asp343Val) c.206+2166A>T c.*1059A>T (n.*1059A>T) | |
| 14 | g.87945562T>C | CA7296964 | GALC | c.1661A>G (p.Asp554Gly) c.1592A>G (p.Asp531Gly) c.1583A>G (p.Asp528Gly) c.1493A>G (p.Asp498Gly) c.1028A>G (p.Asp343Gly) c.206+2166A>G c.*1059A>G (n.*1059A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945562T>G | CA390745967 | GALC | c.1661A>C (p.Asp554Ala) c.1592A>C (p.Asp531Ala) c.1583A>C (p.Asp528Ala) c.1493A>C (p.Asp498Ala) c.1028A>C (p.Asp343Ala) c.206+2166A>C c.*1059A>C (n.*1059A>C) | |
| 14 | g.87945562T= | CA2153356484 | GALC | c.1661A= (p.Asp554=) c.1592A= (p.Asp531=) c.1583A= (p.Asp528=) c.1493A= (p.Asp498=) c.1028A= (p.Asp343=) c.206+2166A= c.*1059A= (n.*1059A=) | |
| 14 | g.87945563C>A | CA390745968 | GALC | c.1660G>T (p.Asp554Tyr) c.1591G>T (p.Asp531Tyr) c.1582G>T (p.Asp528Tyr) c.1492G>T (p.Asp498Tyr) c.1027G>T (p.Asp343Tyr) c.206+2165G>T c.*1058G>T (n.*1058G>T) | |
| 14 | g.87945563C>G | CA390745969 | GALC | c.1660G>C (p.Asp554His) c.1591G>C (p.Asp531His) c.1582G>C (p.Asp528His) c.1492G>C (p.Asp498His) c.1027G>C (p.Asp343His) c.206+2165G>C c.*1058G>C (n.*1058G>C) | |
| 14 | g.87945563C>T | CA390745970 | GALC | c.1660G>A (p.Asp554Asn) c.1591G>A (p.Asp531Asn) c.1582G>A (p.Asp528Asn) c.1492G>A (p.Asp498Asn) c.1027G>A (p.Asp343Asn) c.206+2165G>A c.*1058G>A (n.*1058G>A) | gnomAD v4 |
| 14 | g.87945564T>A | CA487355480 | GALC | c.1659A>T (p.Gly553=) c.1590A>T (p.Gly530=) c.1581A>T (p.Gly527=) c.1491A>T (p.Gly497=) c.1026A>T (p.Gly342=) c.206+2164A>T c.*1057A>T (n.*1057A>T) | |
| 14 | g.87945564T>C | CA487355481 | GALC | c.1659A>G (p.Gly553=) c.1590A>G (p.Gly530=) c.1581A>G (p.Gly527=) c.1491A>G (p.Gly497=) c.1026A>G (p.Gly342=) c.206+2164A>G c.*1057A>G (n.*1057A>G) | gnomAD v4 |
| 14 | g.87945564T>G | CA487355482 | GALC | c.1659A>C (p.Gly553=) c.1590A>C (p.Gly530=) c.1581A>C (p.Gly527=) c.1491A>C (p.Gly497=) c.1026A>C (p.Gly342=) c.206+2164A>C c.*1057A>C (n.*1057A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945564T= | CA2153356489 | GALC | c.1659A= (p.Gly553=) c.1590A= (p.Gly530=) c.1581A= (p.Gly527=) c.1491A= (p.Gly497=) c.1026A= (p.Gly342=) c.206+2164A= c.*1057A= (n.*1057A=) | |
| 14 | g.87945564_87945565insAT | CA2575595031 | GALC | c.1659_1660insTA (p.Asp554Ter) c.1590_1591insTA (p.Asp531Ter) c.1581_1582insTA (p.Asp528Ter) c.1491_1492insTA (p.Asp498Ter) c.1026_1027insTA (p.Asp343Ter) c.206+2164_206+2165insTA c.*1057_*1058insTA (n.*1057_*1058insTA) | |
| 14 | g.87945565C>A | CA390745971 | GALC | c.1658G>T (p.Gly553Val) c.1589G>T (p.Gly530Val) c.1580G>T (p.Gly527Val) c.1490G>T (p.Gly497Val) c.1025G>T (p.Gly342Val) c.206+2163G>T c.*1056G>T (n.*1056G>T) | |
| 14 | g.87945565C>G | CA390745972 | GALC | c.1658G>C (p.Gly553Ala) c.1589G>C (p.Gly530Ala) c.1580G>C (p.Gly527Ala) c.1490G>C (p.Gly497Ala) c.1025G>C (p.Gly342Ala) c.206+2163G>C c.*1056G>C (n.*1056G>C) | |
| 14 | g.87945565C>T | CA390745973 | GALC | c.1658G>A (p.Gly553Glu) c.1589G>A (p.Gly530Glu) c.1580G>A (p.Gly527Glu) c.1490G>A (p.Gly497Glu) c.1025G>A (p.Gly342Glu) c.206+2163G>A c.*1056G>A (n.*1056G>A) | gnomAD v4 |
| 14 | g.87945566C>A | CA390745974 | GALC | c.1657G>T (p.Gly553Ter) c.1588G>T (p.Gly530Ter) c.1579G>T (p.Gly527Ter) c.1489G>T (p.Gly497Ter) c.1024G>T (p.Gly342Ter) c.206+2162G>T c.*1055G>T (n.*1055G>T) | |
| 14 | g.87945566C= | CA2153356493 | GALC | c.1657G= (p.Gly553=) c.1588G= (p.Gly530=) c.1579G= (p.Gly527=) c.1489G= (p.Gly497=) c.1024G= (p.Gly342=) c.206+2162G= c.*1055G= (n.*1055G=) | |
| 14 | g.87945566C>G | CA390745975 | GALC | c.1657G>C (p.Gly553Arg) c.1588G>C (p.Gly530Arg) c.1579G>C (p.Gly527Arg) c.1489G>C (p.Gly497Arg) c.1024G>C (p.Gly342Arg) c.206+2162G>C c.*1055G>C (n.*1055G>C) | |
| 14 | g.87945566C>T | CA274392 | GALC | c.1657G>A (p.Gly553Arg) c.1588G>A (p.Gly530Arg) c.1579G>A (p.Gly527Arg) c.1489G>A (p.Gly497Arg) c.1024G>A (p.Gly342Arg) c.206+2162G>A c.*1055G>A (n.*1055G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945567T>A | CA487355483 | GALC | c.1656A>T (p.Ile552=) c.1587A>T (p.Ile529=) c.1578A>T (p.Ile526=) c.1488A>T (p.Ile496=) c.1023A>T (p.Ile341=) c.206+2161A>T c.*1054A>T (n.*1054A>T) | |
| 14 | g.87945567T>C | CA390745976 | GALC | c.1656A>G (p.Ile552Met) c.1587A>G (p.Ile529Met) c.1578A>G (p.Ile526Met) c.1488A>G (p.Ile496Met) c.1023A>G (p.Ile341Met) c.206+2161A>G c.*1054A>G (n.*1054A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945567T>G | CA487355484 | GALC | c.1656A>C (p.Ile552=) c.1587A>C (p.Ile529=) c.1578A>C (p.Ile526=) c.1488A>C (p.Ile496=) c.1023A>C (p.Ile341=) c.206+2161A>C c.*1054A>C (n.*1054A>C) | |
| 14 | g.87945567T= | CA2153356498 | GALC | c.1656A= (p.Ile552=) c.1587A= (p.Ile529=) c.1578A= (p.Ile526=) c.1488A= (p.Ile496=) c.1023A= (p.Ile341=) c.206+2161A= c.*1054A= (n.*1054A=) | |
| 14 | g.87945568A= | CA2153356501 | GALC | c.1655T= (p.Ile552=) c.1586T= (p.Ile529=) c.1577T= (p.Ile526=) c.1487T= (p.Ile496=) c.1022T= (p.Ile341=) c.206+2160T= c.*1053T= (n.*1053T=) | |
| 14 | g.87945568A>C | CA390745977 | GALC | c.1655T>G (p.Ile552Arg) c.1586T>G (p.Ile529Arg) c.1577T>G (p.Ile526Arg) c.1487T>G (p.Ile496Arg) c.1022T>G (p.Ile341Arg) c.206+2160T>G c.*1053T>G (n.*1053T>G) | |
| 14 | g.87945568A>G | CA390745979 | GALC | c.1655T>C (p.Ile552Thr) c.1586T>C (p.Ile529Thr) c.1577T>C (p.Ile526Thr) c.1487T>C (p.Ile496Thr) c.1022T>C (p.Ile341Thr) c.206+2160T>C c.*1053T>C (n.*1053T>C) | dbSNP gnomAD v4 |
| 14 | g.87945568A>T | CA390745978 | GALC | c.1655T>A (p.Ile552Lys) c.1586T>A (p.Ile529Lys) c.1577T>A (p.Ile526Lys) c.1487T>A (p.Ile496Lys) c.1022T>A (p.Ile341Lys) c.206+2160T>A c.*1053T>A (n.*1053T>A) | |
| 14 | g.87945569T>A | CA390745980 | GALC | c.1654A>T (p.Ile552Leu) c.1585A>T (p.Ile529Leu) c.1576A>T (p.Ile526Leu) c.1486A>T (p.Ile496Leu) c.1021A>T (p.Ile341Leu) c.206+2159A>T c.*1052A>T (n.*1052A>T) | |
| 14 | g.87945569T>C | CA390745982 | GALC | c.1654A>G (p.Ile552Val) c.1585A>G (p.Ile529Val) c.1576A>G (p.Ile526Val) c.1486A>G (p.Ile496Val) c.1021A>G (p.Ile341Val) c.206+2159A>G c.*1052A>G (n.*1052A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945569T>G | CA390745981 | GALC | c.1654A>C (p.Ile552Leu) c.1585A>C (p.Ile529Leu) c.1576A>C (p.Ile526Leu) c.1486A>C (p.Ile496Leu) c.1021A>C (p.Ile341Leu) c.206+2159A>C c.*1052A>C (n.*1052A>C) | |
| 14 | g.87945569T= | CA2153356503 | GALC | c.1654A= (p.Ile552=) c.1585A= (p.Ile529=) c.1576A= (p.Ile526=) c.1486A= (p.Ile496=) c.1021A= (p.Ile341=) c.206+2159A= c.*1052A= (n.*1052A=) | |
| 14 | g.87945570A>C | CA390745983 | GALC | c.1653T>G (p.Ile551Met) c.1584T>G (p.Ile528Met) c.1575T>G (p.Ile525Met) c.1485T>G (p.Ile495Met) c.1020T>G (p.Ile340Met) c.206+2158T>G c.*1051T>G (n.*1051T>G) | |
| 14 | g.87945570A>G | CA487355485 | GALC | c.1653T>C (p.Ile551=) c.1584T>C (p.Ile528=) c.1575T>C (p.Ile525=) c.1485T>C (p.Ile495=) c.1020T>C (p.Ile340=) c.206+2158T>C c.*1051T>C (n.*1051T>C) | |
| 14 | g.87945570A>T | CA487355486 | GALC | c.1653T>A (p.Ile551=) c.1584T>A (p.Ile528=) c.1575T>A (p.Ile525=) c.1485T>A (p.Ile495=) c.1020T>A (p.Ile340=) c.206+2158T>A c.*1051T>A (n.*1051T>A) | |
| 14 | g.87945571del | CA2625979032 | GALC | c.1653del (p.Ile552Ter) c.1584del (p.Ile529Ter) c.1575del (p.Ile526Ter) c.1485del (p.Ile496Ter) c.1020del (p.Ile341Ter) c.206+2158del c.*1051del (n.*1051del) | gnomAD v4 |
| 14 | g.87945571A>C | CA390745984 | GALC | c.1652T>G (p.Ile551Ser) c.1583T>G (p.Ile528Ser) c.1574T>G (p.Ile525Ser) c.1484T>G (p.Ile495Ser) c.1019T>G (p.Ile340Ser) c.206+2157T>G c.*1050T>G (n.*1050T>G) | |
| 14 | g.87945571A>G | CA390745985 | GALC | c.1652T>C (p.Ile551Thr) c.1583T>C (p.Ile528Thr) c.1574T>C (p.Ile525Thr) c.1484T>C (p.Ile495Thr) c.1019T>C (p.Ile340Thr) c.206+2157T>C c.*1050T>C (n.*1050T>C) | |
| 14 | g.87945571A>T | CA390745986 | GALC | c.1652T>A (p.Ile551Asn) c.1583T>A (p.Ile528Asn) c.1574T>A (p.Ile525Asn) c.1484T>A (p.Ile495Asn) c.1019T>A (p.Ile340Asn) c.206+2157T>A c.*1050T>A (n.*1050T>A) | |
| 14 | g.87945572T>A | CA390745987 | GALC | c.1651A>T (p.Ile551Phe) c.1582A>T (p.Ile528Phe) c.1573A>T (p.Ile525Phe) c.1483A>T (p.Ile495Phe) c.1018A>T (p.Ile340Phe) c.206+2156A>T c.*1049A>T (n.*1049A>T) | |
| 14 | g.87945572T>C | CA390745988 | GALC | c.1651A>G (p.Ile551Val) c.1582A>G (p.Ile528Val) c.1573A>G (p.Ile525Val) c.1483A>G (p.Ile495Val) c.1018A>G (p.Ile340Val) c.206+2156A>G c.*1049A>G (n.*1049A>G) | |
| 14 | g.87945572T>G | CA390745989 | GALC | c.1651A>C (p.Ile551Leu) c.1582A>C (p.Ile528Leu) c.1573A>C (p.Ile525Leu) c.1483A>C (p.Ile495Leu) c.1018A>C (p.Ile340Leu) c.206+2156A>C c.*1049A>C (n.*1049A>C) | |
| 14 | g.87945573A>C | CA390745990 | GALC | c.1650T>G (p.Ser550Arg) c.1581T>G (p.Ser527Arg) c.1572T>G (p.Ser524Arg) c.1482T>G (p.Ser494Arg) c.1017T>G (p.Ser339Arg) c.206+2155T>G c.*1048T>G (n.*1048T>G) | |
| 14 | g.87945573A>G | CA487355487 | GALC | c.1650T>C (p.Ser550=) c.1581T>C (p.Ser527=) c.1572T>C (p.Ser524=) c.1482T>C (p.Ser494=) c.1017T>C (p.Ser339=) c.206+2155T>C c.*1048T>C (n.*1048T>C) | |
| 14 | g.87945573A>T | CA390745991 | GALC | c.1650T>A (p.Ser550Arg) c.1581T>A (p.Ser527Arg) c.1572T>A (p.Ser524Arg) c.1482T>A (p.Ser494Arg) c.1017T>A (p.Ser339Arg) c.206+2155T>A c.*1048T>A (n.*1048T>A) | |
| 14 | g.87945574C>A | CA390745992 | GALC | c.1649G>T (p.Ser550Ile) c.1580G>T (p.Ser527Ile) c.1571G>T (p.Ser524Ile) c.1481G>T (p.Ser494Ile) c.1016G>T (p.Ser339Ile) c.206+2154G>T c.*1047G>T (n.*1047G>T) | |
| 14 | g.87945574C>G | CA390745993 | GALC | c.1649G>C (p.Ser550Thr) c.1580G>C (p.Ser527Thr) c.1571G>C (p.Ser524Thr) c.1481G>C (p.Ser494Thr) c.1016G>C (p.Ser339Thr) c.206+2154G>C c.*1047G>C (n.*1047G>C) | |
| 14 | g.87945574C>T | CA390745994 | GALC | c.1649G>A (p.Ser550Asn) c.1580G>A (p.Ser527Asn) c.1571G>A (p.Ser524Asn) c.1481G>A (p.Ser494Asn) c.1016G>A (p.Ser339Asn) c.206+2154G>A c.*1047G>A (n.*1047G>A) | gnomAD v4 |
| 14 | g.87945575T>A | CA390745997 | GALC | c.1648A>T (p.Ser550Cys) c.1579A>T (p.Ser527Cys) c.1570A>T (p.Ser524Cys) c.1480A>T (p.Ser494Cys) c.1015A>T (p.Ser339Cys) c.206+2153A>T c.*1046A>T (n.*1046A>T) | |
| 14 | g.87945575T>C | CA390745995 | GALC | c.1648A>G (p.Ser550Gly) c.1579A>G (p.Ser527Gly) c.1570A>G (p.Ser524Gly) c.1480A>G (p.Ser494Gly) c.1015A>G (p.Ser339Gly) c.206+2153A>G c.*1046A>G (n.*1046A>G) | |
| 14 | g.87945575T>G | CA390745996 | GALC | c.1648A>C (p.Ser550Arg) c.1579A>C (p.Ser527Arg) c.1570A>C (p.Ser524Arg) c.1480A>C (p.Ser494Arg) c.1015A>C (p.Ser339Arg) c.206+2153A>C c.*1046A>C (n.*1046A>C) | |
| 14 | g.87945575dup | CA2573150291 | GALC | c.1648dup (p.Ser550LysfsTer16) c.1579dup (p.Ser527LysfsTer16) c.1570dup (p.Ser524LysfsTer16) c.1480dup (p.Ser494LysfsTer16) c.1015dup (p.Ser339LysfsTer16) c.206+2153dup c.*1046dup (n.*1046dup) | ClinVar dbSNP |
| 14 | g.87945576G>A | CA487355489 | GALC | c.1647C>T (p.Ile549=) c.1578C>T (p.Ile526=) c.1569C>T (p.Ile523=) c.1479C>T (p.Ile493=) c.1014C>T (p.Ile338=) c.206+2152C>T c.*1045C>T (n.*1045C>T) | gnomAD v4 |
| 14 | g.87945576G>C | CA390745998 | GALC | c.1647C>G (p.Ile549Met) c.1578C>G (p.Ile526Met) c.1569C>G (p.Ile523Met) c.1479C>G (p.Ile493Met) c.1014C>G (p.Ile338Met) c.206+2152C>G c.*1045C>G (n.*1045C>G) | |
| 14 | g.87945576G>T | CA487355488 | GALC | c.1647C>A (p.Ile549=) c.1578C>A (p.Ile526=) c.1569C>A (p.Ile523=) c.1479C>A (p.Ile493=) c.1014C>A (p.Ile338=) c.206+2152C>A c.*1045C>A (n.*1045C>A) | gnomAD v4 |
| 14 | g.87945577A>C | CA390745999 | GALC | c.1646T>G (p.Ile549Ser) c.1577T>G (p.Ile526Ser) c.1568T>G (p.Ile523Ser) c.1478T>G (p.Ile493Ser) c.1013T>G (p.Ile338Ser) c.206+2151T>G c.*1044T>G (n.*1044T>G) | |
| 14 | g.87945577A>G | CA390746000 | GALC | c.1646T>C (p.Ile549Thr) c.1577T>C (p.Ile526Thr) c.1568T>C (p.Ile523Thr) c.1478T>C (p.Ile493Thr) c.1013T>C (p.Ile338Thr) c.206+2151T>C c.*1044T>C (n.*1044T>C) | |
| 14 | g.87945577A>T | CA390746001 | GALC | c.1646T>A (p.Ile549Asn) c.1577T>A (p.Ile526Asn) c.1568T>A (p.Ile523Asn) c.1478T>A (p.Ile493Asn) c.1013T>A (p.Ile338Asn) c.206+2151T>A c.*1044T>A (n.*1044T>A) | |
| 14 | g.87945578T>A | CA390746002 | GALC | c.1645A>T (p.Ile549Phe) c.1576A>T (p.Ile526Phe) c.1567A>T (p.Ile523Phe) c.1477A>T (p.Ile493Phe) c.1012A>T (p.Ile338Phe) c.206+2150A>T c.*1043A>T (n.*1043A>T) | |
| 14 | g.87945578T>C | CA390746003 | GALC | c.1645A>G (p.Ile549Val) c.1576A>G (p.Ile526Val) c.1567A>G (p.Ile523Val) c.1477A>G (p.Ile493Val) c.1012A>G (p.Ile338Val) c.206+2150A>G c.*1043A>G (n.*1043A>G) | dbSNP gnomAD v4 |
| 14 | g.87945578T>G | CA390746004 | GALC | c.1645A>C (p.Ile549Leu) c.1576A>C (p.Ile526Leu) c.1567A>C (p.Ile523Leu) c.1477A>C (p.Ile493Leu) c.1012A>C (p.Ile338Leu) c.206+2150A>C c.*1043A>C (n.*1043A>C) | gnomAD v4 |
| 14 | g.87945578T= | CA2153356505 | GALC | c.1645A= (p.Ile549=) c.1576A= (p.Ile526=) c.1567A= (p.Ile523=) c.1477A= (p.Ile493=) c.1012A= (p.Ile338=) c.206+2150A= c.*1043A= (n.*1043A=) | |
| 14 | g.87945579T>A | CA487355492 | GALC | c.1644A>T (p.Thr548=) c.1575A>T (p.Thr525=) c.1566A>T (p.Thr522=) c.1476A>T (p.Thr492=) c.1011A>T (p.Thr337=) c.206+2149A>T c.*1042A>T (n.*1042A>T) | gnomAD v4 |
| 14 | g.87945579T>C | CA487355491 | GALC | c.1644A>G (p.Thr548=) c.1575A>G (p.Thr525=) c.1566A>G (p.Thr522=) c.1476A>G (p.Thr492=) c.1011A>G (p.Thr337=) c.206+2149A>G c.*1042A>G (n.*1042A>G) | |
| 14 | g.87945579T>G | CA487355490 | GALC | c.1644A>C (p.Thr548=) c.1575A>C (p.Thr525=) c.1566A>C (p.Thr522=) c.1476A>C (p.Thr492=) c.1011A>C (p.Thr337=) c.206+2149A>C c.*1042A>C (n.*1042A>C) | |
| 14 | g.87945580G>A | CA390746005 | GALC | c.1643C>T (p.Thr548Ile) c.1574C>T (p.Thr525Ile) c.1565C>T (p.Thr522Ile) c.1475C>T (p.Thr492Ile) c.1010C>T (p.Thr337Ile) c.206+2148C>T c.*1041C>T (n.*1041C>T) | |
| 14 | g.87945580G>C | CA390746006 | GALC | c.1643C>G (p.Thr548Arg) c.1574C>G (p.Thr525Arg) c.1565C>G (p.Thr522Arg) c.1475C>G (p.Thr492Arg) c.1010C>G (p.Thr337Arg) c.206+2148C>G c.*1041C>G (n.*1041C>G) | |
| 14 | g.87945580G>T | CA390746007 | GALC | c.1643C>A (p.Thr548Lys) c.1574C>A (p.Thr525Lys) c.1565C>A (p.Thr522Lys) c.1475C>A (p.Thr492Lys) c.1010C>A (p.Thr337Lys) c.206+2148C>A c.*1041C>A (n.*1041C>A) | gnomAD v4 |
| 14 | g.87945581T>A | CA390746009 | GALC | c.1642A>T (p.Thr548Ser) c.1573A>T (p.Thr525Ser) c.1564A>T (p.Thr522Ser) c.1474A>T (p.Thr492Ser) c.1009A>T (p.Thr337Ser) c.206+2147A>T c.*1040A>T (n.*1040A>T) | |
| 14 | g.87945581T>C | CA10645180 | GALC | c.1642A>G (p.Thr548Ala) c.1573A>G (p.Thr525Ala) c.1564A>G (p.Thr522Ala) c.1474A>G (p.Thr492Ala) c.1009A>G (p.Thr337Ala) c.206+2147A>G c.*1040A>G (n.*1040A>G) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87945581T>G | CA390746008 | GALC | c.1642A>C (p.Thr548Pro) c.1573A>C (p.Thr525Pro) c.1564A>C (p.Thr522Pro) c.1474A>C (p.Thr492Pro) c.1009A>C (p.Thr337Pro) c.206+2147A>C c.*1040A>C (n.*1040A>C) | gnomAD v4 |
| 14 | g.87945581T= | CA2153356510 | GALC | c.1642A= (p.Thr548=) c.1573A= (p.Thr525=) c.1564A= (p.Thr522=) c.1474A= (p.Thr492=) c.1009A= (p.Thr337=) c.206+2147A= c.*1040A= (n.*1040A=) | |
| 14 | g.87945582G>A | CA487355493 | GALC | c.1641C>T (p.Asn547=) c.1572C>T (p.Asn524=) c.1563C>T (p.Asn521=) c.1473C>T (p.Asn491=) c.1008C>T (p.Asn336=) c.206+2146C>T c.*1039C>T (n.*1039C>T) | |
| 14 | g.87945582G>C | CA390746010 | GALC | c.1641C>G (p.Asn547Lys) c.1572C>G (p.Asn524Lys) c.1563C>G (p.Asn521Lys) c.1473C>G (p.Asn491Lys) c.1008C>G (p.Asn336Lys) c.206+2146C>G c.*1039C>G (n.*1039C>G) | |
| 14 | g.87945582G>T | CA390746011 | GALC | c.1641C>A (p.Asn547Lys) c.1572C>A (p.Asn524Lys) c.1563C>A (p.Asn521Lys) c.1473C>A (p.Asn491Lys) c.1008C>A (p.Asn336Lys) c.206+2146C>A c.*1039C>A (n.*1039C>A) | gnomAD v4 |
| 14 | g.87945583T>A | CA390746012 | GALC | c.1640A>T (p.Asn547Ile) c.1571A>T (p.Asn524Ile) c.1562A>T (p.Asn521Ile) c.1472A>T (p.Asn491Ile) c.1007A>T (p.Asn336Ile) c.206+2145A>T c.*1038A>T (n.*1038A>T) | |
| 14 | g.87945583T>C | CA390746013 | GALC | c.1640A>G (p.Asn547Ser) c.1571A>G (p.Asn524Ser) c.1562A>G (p.Asn521Ser) c.1472A>G (p.Asn491Ser) c.1007A>G (p.Asn336Ser) c.206+2145A>G c.*1038A>G (n.*1038A>G) | |
| 14 | g.87945583T>G | CA390746014 | GALC | c.1640A>C (p.Asn547Thr) c.1571A>C (p.Asn524Thr) c.1562A>C (p.Asn521Thr) c.1472A>C (p.Asn491Thr) c.1007A>C (p.Asn336Thr) c.206+2145A>C c.*1038A>C (n.*1038A>C) | |
| 14 | g.87945584T>A | CA390746015 | GALC | c.1639A>T (p.Asn547Tyr) c.1570A>T (p.Asn524Tyr) c.1561A>T (p.Asn521Tyr) c.1471A>T (p.Asn491Tyr) c.1006A>T (p.Asn336Tyr) c.206+2144A>T c.*1037A>T (n.*1037A>T) | |
| 14 | g.87945584T>C | CA390746016 | GALC | c.1639A>G (p.Asn547Asp) c.1570A>G (p.Asn524Asp) c.1561A>G (p.Asn521Asp) c.1471A>G (p.Asn491Asp) c.1006A>G (p.Asn336Asp) c.206+2144A>G c.*1037A>G (n.*1037A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945584T>G | CA390746017 | GALC | c.1639A>C (p.Asn547His) c.1570A>C (p.Asn524His) c.1561A>C (p.Asn521His) c.1471A>C (p.Asn491His) c.1006A>C (p.Asn336His) c.206+2144A>C c.*1037A>C (n.*1037A>C) | |
| 14 | g.87945584T= | CA2153356515 | GALC | c.1639A= (p.Asn547=) c.1570A= (p.Asn524=) c.1561A= (p.Asn521=) c.1471A= (p.Asn491=) c.1006A= (p.Asn336=) c.206+2144A= c.*1037A= (n.*1037A=) | |
| 14 | g.87945585G>A | CA487355494 | GALC | c.1638C>T (p.Ser546=) c.1569C>T (p.Ser523=) c.1560C>T (p.Ser520=) c.1470C>T (p.Ser490=) c.1005C>T (p.Ser335=) c.206+2143C>T c.*1036C>T (n.*1036C>T) | ClinVar gnomAD v4 |
| 14 | g.87945585G>C | CA487355495 | GALC | c.1638C>G (p.Ser546=) c.1569C>G (p.Ser523=) c.1560C>G (p.Ser520=) c.1470C>G (p.Ser490=) c.1005C>G (p.Ser335=) c.206+2143C>G c.*1036C>G (n.*1036C>G) | |
| 14 | g.87945585G= | CA2153356521 | GALC | c.1638C= (p.Ser546=) c.1569C= (p.Ser523=) c.1560C= (p.Ser520=) c.1470C= (p.Ser490=) c.1005C= (p.Ser335=) c.206+2143C= c.*1036C= (n.*1036C=) | |
| 14 | g.87945585G>T | CA7296965 | GALC | c.1638C>A (p.Ser546=) c.1569C>A (p.Ser523=) c.1560C>A (p.Ser520=) c.1470C>A (p.Ser490=) c.1005C>A (p.Ser335=) c.206+2143C>A c.*1036C>A (n.*1036C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945586G>A | CA390746018 | GALC | c.1637C>T (p.Ser546Phe) c.1568C>T (p.Ser523Phe) c.1559C>T (p.Ser520Phe) c.1469C>T (p.Ser490Phe) c.1004C>T (p.Ser335Phe) c.206+2142C>T c.*1035C>T (n.*1035C>T) | |
| 14 | g.87945586G>C | CA390746019 | GALC | c.1637C>G (p.Ser546Cys) c.1568C>G (p.Ser523Cys) c.1559C>G (p.Ser520Cys) c.1469C>G (p.Ser490Cys) c.1004C>G (p.Ser335Cys) c.206+2142C>G c.*1035C>G (n.*1035C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945586G= | CA2153356523 | GALC | c.1637C= (p.Ser546=) c.1568C= (p.Ser523=) c.1559C= (p.Ser520=) c.1469C= (p.Ser490=) c.1004C= (p.Ser335=) c.206+2142C= c.*1035C= (n.*1035C=) | |
| 14 | g.87945586G>T | CA390746020 | GALC | c.1637C>A (p.Ser546Tyr) c.1568C>A (p.Ser523Tyr) c.1559C>A (p.Ser520Tyr) c.1469C>A (p.Ser490Tyr) c.1004C>A (p.Ser335Tyr) c.206+2142C>A c.*1035C>A (n.*1035C>A) | |
| 14 | g.87945587A>C | CA390746023 | GALC | c.1636T>G (p.Ser546Ala) c.1567T>G (p.Ser523Ala) c.1558T>G (p.Ser520Ala) c.1468T>G (p.Ser490Ala) c.1003T>G (p.Ser335Ala) c.206+2141T>G c.*1034T>G (n.*1034T>G) | |
| 14 | g.87945587A>G | CA390746022 | GALC | c.1636T>C (p.Ser546Pro) c.1567T>C (p.Ser523Pro) c.1558T>C (p.Ser520Pro) c.1468T>C (p.Ser490Pro) c.1003T>C (p.Ser335Pro) c.206+2141T>C c.*1034T>C (n.*1034T>C) | |
| 14 | g.87945587A>T | CA390746021 | GALC | c.1636T>A (p.Ser546Thr) c.1567T>A (p.Ser523Thr) c.1558T>A (p.Ser520Thr) c.1468T>A (p.Ser490Thr) c.1003T>A (p.Ser335Thr) c.206+2141T>A c.*1034T>A (n.*1034T>A) | |
| 14 | g.87945588T>A | CA487355496 | GALC | c.1635A>T (p.Ala545=) c.1566A>T (p.Ala522=) c.1557A>T (p.Ala519=) c.1467A>T (p.Ala489=) c.1002A>T (p.Ala334=) c.206+2140A>T c.*1033A>T (n.*1033A>T) | |
| 14 | g.87945588T>C | CA487355497 | GALC | c.1635A>G (p.Ala545=) c.1566A>G (p.Ala522=) c.1557A>G (p.Ala519=) c.1467A>G (p.Ala489=) c.1002A>G (p.Ala334=) c.206+2140A>G c.*1033A>G (n.*1033A>G) | |
| 14 | g.87945588T>G | CA487355498 | GALC | c.1635A>C (p.Ala545=) c.1566A>C (p.Ala522=) c.1557A>C (p.Ala519=) c.1467A>C (p.Ala489=) c.1002A>C (p.Ala334=) c.206+2140A>C c.*1033A>C (n.*1033A>C) | |
| 14 | g.87945589G>A | CA390746024 | GALC | c.1634C>T (p.Ala545Val) c.1565C>T (p.Ala522Val) c.1556C>T (p.Ala519Val) c.1466C>T (p.Ala489Val) c.1001C>T (p.Ala334Val) c.206+2139C>T c.*1032C>T (n.*1032C>T) | gnomAD v4 |
| 14 | g.87945589G>C | CA390746025 | GALC | c.1634C>G (p.Ala545Gly) c.1565C>G (p.Ala522Gly) c.1556C>G (p.Ala519Gly) c.1466C>G (p.Ala489Gly) c.1001C>G (p.Ala334Gly) c.206+2139C>G c.*1032C>G (n.*1032C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945589G= | CA2153356526 | GALC | c.1634C= (p.Ala545=) c.1565C= (p.Ala522=) c.1556C= (p.Ala519=) c.1466C= (p.Ala489=) c.1001C= (p.Ala334=) c.206+2139C= c.*1032C= (n.*1032C=) | |
| 14 | g.87945589G>T | CA390746026 | GALC | c.1634C>A (p.Ala545Glu) c.1565C>A (p.Ala522Glu) c.1556C>A (p.Ala519Glu) c.1466C>A (p.Ala489Glu) c.1001C>A (p.Ala334Glu) c.206+2139C>A c.*1032C>A (n.*1032C>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87945589_87945590insTGTTTGG | CA2802492047 | GALC | c.1634_1635insCAAACAC (p.Ser546LysfsTer22) c.1565_1566insCAAACAC (p.Ser523LysfsTer22) c.1556_1557insCAAACAC (p.Ser520LysfsTer22) c.1466_1467insCAAACAC (p.Ser490LysfsTer22) c.1001_1002insCAAACAC (p.Ser335LysfsTer22) c.206+2139_206+2140insCAAACAC c.*1032_*1033insCAAACAC (n.*1032_*1033insCAAACAC) | |
| 14 | g.87945590C>A | CA390746027 | GALC | c.1633G>T (p.Ala545Ser) c.1564G>T (p.Ala522Ser) c.1555G>T (p.Ala519Ser) c.1465G>T (p.Ala489Ser) c.1000G>T (p.Ala334Ser) c.206+2138G>T c.*1031G>T (n.*1031G>T) | |
| 14 | g.87945590C>G | CA390746028 | GALC | c.1633G>C (p.Ala545Pro) c.1564G>C (p.Ala522Pro) c.1555G>C (p.Ala519Pro) c.1465G>C (p.Ala489Pro) c.1000G>C (p.Ala334Pro) c.206+2138G>C c.*1031G>C (n.*1031G>C) | |
| 14 | g.87945590C>T | CA390746029 | GALC | c.1633G>A (p.Ala545Thr) c.1564G>A (p.Ala522Thr) c.1555G>A (p.Ala519Thr) c.1465G>A (p.Ala489Thr) c.1000G>A (p.Ala334Thr) c.206+2138G>A c.*1031G>A (n.*1031G>A) | gnomAD v4 |
| 14 | g.87945590_87945591del | CA2802492048 | GALC | c.1632_1633del (p.Ala545IlefsTer20) c.1563_1564del (p.Ala522IlefsTer20) c.1554_1555del (p.Ala519IlefsTer20) c.1464_1465del (p.Ala489IlefsTer20) c.999_1000del (p.Ala334IlefsTer20) c.206+2137_206+2138del c.*1030_*1031del (n.*1030_*1031del) | |
| 14 | g.87945590_87945602del | CA2802492049 | GALC | c.1621_1633del (p.Trp541HisfsTer8) c.1552_1564del (p.Trp518HisfsTer8) c.1543_1555del (p.Trp515HisfsTer8) c.1453_1465del (p.Trp485HisfsTer8) c.988_1000del (p.Trp330HisfsTer8) c.206+2126_206+2138del c.*1019_*1031del (n.*1019_*1031del) | |
| 14 | g.87945591A= | CA2153356531 | GALC | c.1632T= (p.Asp544=) c.1563T= (p.Asp521=) c.1554T= (p.Asp518=) c.1464T= (p.Asp488=) c.999T= (p.Asp333=) c.206+2137T= c.*1030T= (n.*1030T=) | |
| 14 | g.87945591A>C | CA390746030 | GALC | c.1632T>G (p.Asp544Glu) c.1563T>G (p.Asp521Glu) c.1554T>G (p.Asp518Glu) c.1464T>G (p.Asp488Glu) c.999T>G (p.Asp333Glu) c.206+2137T>G c.*1030T>G (n.*1030T>G) | |
| 14 | g.87945591A>G | CA7296966 | GALC | c.1632T>C (p.Asp544=) c.1563T>C (p.Asp521=) c.1554T>C (p.Asp518=) c.1464T>C (p.Asp488=) c.999T>C (p.Asp333=) c.206+2137T>C c.*1030T>C (n.*1030T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945591A>T | CA390746031 | GALC | c.1632T>A (p.Asp544Glu) c.1563T>A (p.Asp521Glu) c.1554T>A (p.Asp518Glu) c.1464T>A (p.Asp488Glu) c.999T>A (p.Asp333Glu) c.206+2137T>A c.*1030T>A (n.*1030T>A) | |
| 14 | g.87945592T>A | CA390746032 | GALC | c.1631A>T (p.Asp544Val) c.1562A>T (p.Asp521Val) c.1553A>T (p.Asp518Val) c.1463A>T (p.Asp488Val) c.998A>T (p.Asp333Val) c.206+2136A>T c.*1029A>T (n.*1029A>T) | |
| 14 | g.87945592T>C | CA390746033 | GALC | c.1631A>G (p.Asp544Gly) c.1562A>G (p.Asp521Gly) c.1553A>G (p.Asp518Gly) c.1463A>G (p.Asp488Gly) c.998A>G (p.Asp333Gly) c.206+2136A>G c.*1029A>G (n.*1029A>G) | |
| 14 | g.87945592T>G | CA390746034 | GALC | c.1631A>C (p.Asp544Ala) c.1562A>C (p.Asp521Ala) c.1553A>C (p.Asp518Ala) c.1463A>C (p.Asp488Ala) c.998A>C (p.Asp333Ala) c.206+2136A>C c.*1029A>C (n.*1029A>C) | |
| 14 | g.87945593C>A | CA390746036 | GALC | c.1630G>T (p.Asp544Tyr) c.1561G>T (p.Asp521Tyr) c.1552G>T (p.Asp518Tyr) c.1462G>T (p.Asp488Tyr) c.997G>T (p.Asp333Tyr) c.206+2135G>T c.*1028G>T (n.*1028G>T) | |
| 14 | g.87945593C= | CA2153356541 | GALC | c.1630G= (p.Asp544=) c.1561G= (p.Asp521=) c.1552G= (p.Asp518=) c.1462G= (p.Asp488=) c.997G= (p.Asp333=) c.206+2135G= c.*1028G= (n.*1028G=) | |
| 14 | g.87945593C>G | CA390746035 | GALC | c.1630G>C (p.Asp544His) c.1561G>C (p.Asp521His) c.1552G>C (p.Asp518His) c.1462G>C (p.Asp488His) c.997G>C (p.Asp333His) c.206+2135G>C c.*1028G>C (n.*1028G>C) | |
| 14 | g.87945593C>T | CA259863 | GALC | c.1630G>A (p.Asp544Asn) c.1561G>A (p.Asp521Asn) c.1552G>A (p.Asp518Asn) c.1462G>A (p.Asp488Asn) c.997G>A (p.Asp333Asn) c.206+2135G>A c.*1028G>A (n.*1028G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.87945594G>A | CA7296967 | GALC | c.1629C>T (p.Ala543=) c.1560C>T (p.Ala520=) c.1551C>T (p.Ala517=) c.1461C>T (p.Ala487=) c.996C>T (p.Ala332=) c.206+2134C>T c.*1027C>T (n.*1027C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945594G>C | CA487355499 | GALC | c.1629C>G (p.Ala543=) c.1560C>G (p.Ala520=) c.1551C>G (p.Ala517=) c.1461C>G (p.Ala487=) c.996C>G (p.Ala332=) c.206+2134C>G c.*1027C>G (n.*1027C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945594G= | CA2153356544 | GALC | c.1629C= (p.Ala543=) c.1560C= (p.Ala520=) c.1551C= (p.Ala517=) c.1461C= (p.Ala487=) c.996C= (p.Ala332=) c.206+2134C= c.*1027C= (n.*1027C=) | |
| 14 | g.87945594G>T | CA487355500 | GALC | c.1629C>A (p.Ala543=) c.1560C>A (p.Ala520=) c.1551C>A (p.Ala517=) c.1461C>A (p.Ala487=) c.996C>A (p.Ala332=) c.206+2134C>A c.*1027C>A (n.*1027C>A) | |
| 14 | g.87945595G>A | CA390746039 | GALC | c.1628C>T (p.Ala543Val) c.1559C>T (p.Ala520Val) c.1550C>T (p.Ala517Val) c.1460C>T (p.Ala487Val) c.995C>T (p.Ala332Val) c.206+2133C>T c.*1026C>T (n.*1026C>T) | gnomAD v4 |
| 14 | g.87945595G>C | CA390746037 | GALC | c.1628C>G (p.Ala543Gly) c.1559C>G (p.Ala520Gly) c.1550C>G (p.Ala517Gly) c.1460C>G (p.Ala487Gly) c.995C>G (p.Ala332Gly) c.206+2133C>G c.*1026C>G (n.*1026C>G) | |
| 14 | g.87945595G>T | CA390746038 | GALC | c.1628C>A (p.Ala543Asp) c.1559C>A (p.Ala520Asp) c.1550C>A (p.Ala517Asp) c.1460C>A (p.Ala487Asp) c.995C>A (p.Ala332Asp) c.206+2133C>A c.*1026C>A (n.*1026C>A) | |
| 14 | g.87945596C>A | CA390746040 | GALC | c.1627G>T (p.Ala543Ser) c.1558G>T (p.Ala520Ser) c.1549G>T (p.Ala517Ser) c.1459G>T (p.Ala487Ser) c.994G>T (p.Ala332Ser) c.206+2132G>T c.*1025G>T (n.*1025G>T) | |
| 14 | g.87945596C= | CA2153356545 | GALC | c.1627G= (p.Ala543=) c.1558G= (p.Ala520=) c.1549G= (p.Ala517=) c.1459G= (p.Ala487=) c.994G= (p.Ala332=) c.206+2132G= c.*1025G= (n.*1025G=) | |
| 14 | g.87945596C>G | CA390746041 | GALC | c.1627G>C (p.Ala543Pro) c.1558G>C (p.Ala520Pro) c.1549G>C (p.Ala517Pro) c.1459G>C (p.Ala487Pro) c.994G>C (p.Ala332Pro) c.206+2132G>C c.*1025G>C (n.*1025G>C) | |
| 14 | g.87945596C>T | CA7296968 | GALC | c.1627G>A (p.Ala543Thr) c.1558G>A (p.Ala520Thr) c.1549G>A (p.Ala517Thr) c.1459G>A (p.Ala487Thr) c.994G>A (p.Ala332Thr) c.206+2132G>A c.*1025G>A (n.*1025G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945596_87945602del | CA2802492050 | GALC | c.1621_1627del (p.Trp541ProfsTer10) c.1552_1558del (p.Trp518ProfsTer10) c.1543_1549del (p.Trp515ProfsTer10) c.1453_1459del (p.Trp485ProfsTer10) c.988_994del (p.Trp330ProfsTer10) c.206+2126_206+2132del c.*1019_*1025del (n.*1019_*1025del) | |
| 14 | g.87945597A>C | CA487355503 | GALC | c.1626T>G (p.Ala542=) c.1557T>G (p.Ala519=) c.1548T>G (p.Ala516=) c.1458T>G (p.Ala486=) c.993T>G (p.Ala331=) c.206+2131T>G c.*1024T>G (n.*1024T>G) | |
| 14 | g.87945597A>G | CA487355502 | GALC | c.1626T>C (p.Ala542=) c.1557T>C (p.Ala519=) c.1548T>C (p.Ala516=) c.1458T>C (p.Ala486=) c.993T>C (p.Ala331=) c.206+2131T>C c.*1024T>C (n.*1024T>C) | |
| 14 | g.87945597A>T | CA487355501 | GALC | c.1626T>A (p.Ala542=) c.1557T>A (p.Ala519=) c.1548T>A (p.Ala516=) c.1458T>A (p.Ala486=) c.993T>A (p.Ala331=) c.206+2131T>A c.*1024T>A (n.*1024T>A) | |
| 14 | g.87945598G>A | CA390746042 | GALC | c.1625C>T (p.Ala542Val) c.1556C>T (p.Ala519Val) c.1547C>T (p.Ala516Val) c.1457C>T (p.Ala486Val) c.992C>T (p.Ala331Val) c.206+2130C>T c.*1023C>T (n.*1023C>T) | |
| 14 | g.87945598G>C | CA390746043 | GALC | c.1625C>G (p.Ala542Gly) c.1556C>G (p.Ala519Gly) c.1547C>G (p.Ala516Gly) c.1457C>G (p.Ala486Gly) c.992C>G (p.Ala331Gly) c.206+2130C>G c.*1023C>G (n.*1023C>G) | |
| 14 | g.87945598G= | CA2153356546 | GALC | c.1625C= (p.Ala542=) c.1556C= (p.Ala519=) c.1547C= (p.Ala516=) c.1457C= (p.Ala486=) c.992C= (p.Ala331=) c.206+2130C= c.*1023C= (n.*1023C=) | |
| 14 | g.87945598G>T | CA390746044 | GALC | c.1625C>A (p.Ala542Asp) c.1556C>A (p.Ala519Asp) c.1547C>A (p.Ala516Asp) c.1457C>A (p.Ala486Asp) c.992C>A (p.Ala331Asp) c.206+2130C>A c.*1023C>A (n.*1023C>A) | gnomAD v4 |
| 14 | g.87945598_87945599insGC | CA7296969 | GALC | c.1624_1625insGC (p.Ala542GlyfsTer12) c.1555_1556insGC (p.Ala519GlyfsTer12) c.1546_1547insGC (p.Ala516GlyfsTer12) c.1456_1457insGC (p.Ala486GlyfsTer12) c.991_992insGC (p.Ala331GlyfsTer12) c.206+2129_206+2130insGC c.*1022_*1023insGC (n.*1022_*1023insGC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945599C>A | CA390746046 | GALC | c.1624G>T (p.Ala542Ser) c.1555G>T (p.Ala519Ser) c.1546G>T (p.Ala516Ser) c.1456G>T (p.Ala486Ser) c.991G>T (p.Ala331Ser) c.206+2129G>T c.*1022G>T (n.*1022G>T) | |
| 14 | g.87945599C= | CA2153356547 | GALC | c.1624G= (p.Ala542=) c.1555G= (p.Ala519=) c.1546G= (p.Ala516=) c.1456G= (p.Ala486=) c.991G= (p.Ala331=) c.206+2129G= c.*1022G= (n.*1022G=) | |
| 14 | g.87945599C>G | CA7296970 | GALC | c.1624G>C (p.Ala542Pro) c.1555G>C (p.Ala519Pro) c.1546G>C (p.Ala516Pro) c.1456G>C (p.Ala486Pro) c.991G>C (p.Ala331Pro) c.206+2129G>C c.*1022G>C (n.*1022G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945599C>T | CA390746045 | GALC | c.1624G>A (p.Ala542Thr) c.1555G>A (p.Ala519Thr) c.1546G>A (p.Ala516Thr) c.1456G>A (p.Ala486Thr) c.991G>A (p.Ala331Thr) c.206+2129G>A c.*1022G>A (n.*1022G>A) | |
| 14 | g.87945600_87945601del | CA2625979033 | GALC | c.1623_1624del (p.Trp541CysfsTer24) c.1554_1555del (p.Trp518CysfsTer24) c.1545_1546del (p.Trp515CysfsTer24) c.1455_1456del (p.Trp485CysfsTer24) c.990_991del (p.Trp330CysfsTer24) c.206+2128_206+2129del c.*1021_*1022del (n.*1021_*1022del) | gnomAD v4 |
| 14 | g.87945600C>A | CA390746047 | GALC | c.1623G>T (p.Trp541Cys) c.1554G>T (p.Trp518Cys) c.1545G>T (p.Trp515Cys) c.1455G>T (p.Trp485Cys) c.990G>T (p.Trp330Cys) c.206+2128G>T c.*1021G>T (n.*1021G>T) | |
| 14 | g.87945600C>G | CA390746048 | GALC | c.1623G>C (p.Trp541Cys) c.1554G>C (p.Trp518Cys) c.1545G>C (p.Trp515Cys) c.1455G>C (p.Trp485Cys) c.990G>C (p.Trp330Cys) c.206+2128G>C c.*1021G>C (n.*1021G>C) | |
| 14 | g.87945600C>T | CA390746049 | GALC | c.1623G>A (p.Trp541Ter) c.1554G>A (p.Trp518Ter) c.1545G>A (p.Trp515Ter) c.1455G>A (p.Trp485Ter) c.990G>A (p.Trp330Ter) c.206+2128G>A c.*1021G>A (n.*1021G>A) | ClinVar |
| 14 | g.87945601C>A | CA390746050 | GALC | c.1622G>T (p.Trp541Leu) c.1553G>T (p.Trp518Leu) c.1544G>T (p.Trp515Leu) c.1454G>T (p.Trp485Leu) c.989G>T (p.Trp330Leu) c.206+2127G>T c.*1020G>T (n.*1020G>T) | ClinVar dbSNP |
| 14 | g.87945601C>G | CA390746052 | GALC | c.1622G>C (p.Trp541Ser) c.1553G>C (p.Trp518Ser) c.1544G>C (p.Trp515Ser) c.1454G>C (p.Trp485Ser) c.989G>C (p.Trp330Ser) c.206+2127G>C c.*1020G>C (n.*1020G>C) | |
| 14 | g.87945601C>T | CA390746051 | GALC | c.1622G>A (p.Trp541Ter) c.1553G>A (p.Trp518Ter) c.1544G>A (p.Trp515Ter) c.1454G>A (p.Trp485Ter) c.989G>A (p.Trp330Ter) c.206+2127G>A c.*1020G>A (n.*1020G>A) | |
| 14 | g.87945601_87945603delinsCAT | CA2153356551 | GALC | c.1620_1622delinsATG (p.Thr540=) c.1551_1553delinsATG (p.Thr517=) c.1542_1544delinsATG (p.Thr514=) c.1452_1454delinsATG (p.Thr484=) c.987_989delinsATG (p.Thr329=) c.206+2125_206+2127delinsATG c.*1018_*1020delinsATG (n.*1018_*1020delinsATG) | |
| 14 | g.87945602A= | CA2153356552 | GALC | c.1621T= (p.Trp541=) c.1552T= (p.Trp518=) c.1543T= (p.Trp515=) c.1453T= (p.Trp485=) c.988T= (p.Trp330=) c.206+2126T= c.*1019T= (n.*1019T=) | |
| 14 | g.87945602A>C | CA390746053 | GALC | c.1621T>G (p.Trp541Gly) c.1552T>G (p.Trp518Gly) c.1543T>G (p.Trp515Gly) c.1453T>G (p.Trp485Gly) c.988T>G (p.Trp330Gly) c.206+2126T>G c.*1019T>G (n.*1019T>G) | dbSNP |
| 14 | g.87945602A>G | CA390746054 | GALC | c.1621T>C (p.Trp541Arg) c.1552T>C (p.Trp518Arg) c.1543T>C (p.Trp515Arg) c.1453T>C (p.Trp485Arg) c.988T>C (p.Trp330Arg) c.206+2126T>C c.*1019T>C (n.*1019T>C) | |
| 14 | g.87945602A>T | CA390746055 | GALC | c.1621T>A (p.Trp541Arg) c.1552T>A (p.Trp518Arg) c.1543T>A (p.Trp515Arg) c.1453T>A (p.Trp485Arg) c.988T>A (p.Trp330Arg) c.206+2126T>A c.*1019T>A (n.*1019T>A) | |
| 14 | g.87945602_87945603del | CA7296971 | GALC | c.1620_1621del (p.Trp541GlyfsTer24) c.1551_1552del (p.Trp518GlyfsTer24) c.1542_1543del (p.Trp515GlyfsTer24) c.1452_1453del (p.Trp485GlyfsTer24) c.987_988del (p.Trp330GlyfsTer24) c.206+2125_206+2126del c.*1018_*1019del (n.*1018_*1019del) | dbSNP ExAC gnomAD v2 |
| 14 | g.87945603T>A | CA487355506 | GALC | c.1620A>T (p.Thr540=) c.1551A>T (p.Thr517=) c.1542A>T (p.Thr514=) c.1452A>T (p.Thr484=) c.987A>T (p.Thr329=) c.206+2125A>T c.*1018A>T (n.*1018A>T) | |
| 14 | g.87945603T>C | CA180080 | GALC | c.1620A>G (p.Thr540=) c.1551A>G (p.Thr517=) c.1542A>G (p.Thr514=) c.1452A>G (p.Thr484=) c.987A>G (p.Thr329=) c.206+2125A>G c.*1018A>G (n.*1018A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945603T>G | CA487355507 | GALC | c.1620A>C (p.Thr540=) c.1551A>C (p.Thr517=) c.1542A>C (p.Thr514=) c.1452A>C (p.Thr484=) c.987A>C (p.Thr329=) c.206+2125A>C c.*1018A>C (n.*1018A>C) | gnomAD v4 |
| 14 | g.87945603T= | CA658656459 | GALC | c.1620A= (p.Thr540=) c.1551A= (p.Thr517=) c.1542A= (p.Thr514=) c.1452A= (p.Thr484=) c.987A= (p.Thr329=) c.206+2125A= c.*1018A= (n.*1018A=) | |
| 14 | g.87945604G>A | CA7296972 | GALC | c.1619C>T (p.Thr540Ile) c.1550C>T (p.Thr517Ile) c.1541C>T (p.Thr514Ile) c.1451C>T (p.Thr484Ile) c.986C>T (p.Thr329Ile) c.206+2124C>T c.*1017C>T (n.*1017C>T) c.1619C>T (p.Thr540Met) c.1550C>T (p.Thr517Met) c.1541C>T (p.Thr514Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945604G>C | CA390746056 | GALC | c.1619C>G (p.Thr540Arg) c.1550C>G (p.Thr517Arg) c.1541C>G (p.Thr514Arg) c.1451C>G (p.Thr484Arg) c.986C>G (p.Thr329Arg) c.206+2124C>G c.*1017C>G (n.*1017C>G) | |
| 14 | g.87945604G= | CA2153356795 | GALC | c.1619C= (p.Thr540=) c.1550C= (p.Thr517=) c.1541C= (p.Thr514=) c.1451C= (p.Thr484=) c.986C= (p.Thr329=) c.206+2124C= c.*1017C= (n.*1017C=) | |
| 14 | g.87945604G>T | CA390746057 | GALC | c.1619C>A (p.Thr540Lys) c.1550C>A (p.Thr517Lys) c.1541C>A (p.Thr514Lys) c.1451C>A (p.Thr484Lys) c.986C>A (p.Thr329Lys) c.206+2124C>A c.*1017C>A (n.*1017C>A) | gnomAD v4 |