Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.87939901_87939904dupCA2625978559GALCc.1911+4_1911+7dup (n.1911+4_1911+7dup)
c.1842+4_1842+7dup (n.1842+4_1842+7dup)
c.1833+4_1833+7dup (n.1833+4_1833+7dup)
c.1743+4_1743+7dup (n.1743+4_1743+7dup)
c.1278+4_1278+7dup (n.1278+4_1278+7dup)
c.447+4_447+7dup
 gnomAD v4
14g.87939899_87939904delCA912979936GALCc.1911+1_1911+6del (n.1911+1_1911+6del)
c.1842+1_1842+6del (n.1842+1_1842+6del)
c.1833+1_1833+6del (n.1833+1_1833+6del)
c.1743+1_1743+6del (n.1743+1_1743+6del)
c.1278+1_1278+6del (n.1278+1_1278+6del)
c.447+1_447+6del
14g.87939899_87939904delinsACTTACCA2153352680GALCc.1911+1_1911+6delinsGTAAGT (n.1911+1_1911+6delinsGTAAGT)
c.1842+1_1842+6delinsGTAAGT (n.1842+1_1842+6delinsGTAAGT)
c.1833+1_1833+6delinsGTAAGT (n.1833+1_1833+6delinsGTAAGT)
c.1743+1_1743+6delinsGTAAGT (n.1743+1_1743+6delinsGTAAGT)
c.1278+1_1278+6delinsGTAAGT (n.1278+1_1278+6delinsGTAAGT)
c.447+1_447+6delinsGTAAGT
14g.87939904_87939908delCA7296873GALCc.1911+1_1911+5del
c.1842+1_1842+5del
c.1833+1_1833+5del
c.1743+1_1743+5del
c.1278+1_1278+5del
c.447+1_447+5del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.87939903A>CCA390745392GALCc.1911+2T>G (n.1911+2T>G)
c.1842+2T>G (n.1842+2T>G)
c.1833+2T>G (n.1833+2T>G)
c.1743+2T>G (n.1743+2T>G)
c.1278+2T>G (n.1278+2T>G)
c.447+2T>G
14g.87939903A>GCA390745393GALCc.1911+2T>C (n.1911+2T>C)
c.1842+2T>C (n.1842+2T>C)
c.1833+2T>C (n.1833+2T>C)
c.1743+2T>C (n.1743+2T>C)
c.1278+2T>C (n.1278+2T>C)
c.447+2T>C
14g.87939903A>TCA390745394GALCc.1911+2T>A (n.1911+2T>A)
c.1842+2T>A (n.1842+2T>A)
c.1833+2T>A (n.1833+2T>A)
c.1743+2T>A (n.1743+2T>A)
c.1278+2T>A (n.1278+2T>A)
c.447+2T>A
14g.87939904C>ACA390745395GALCc.1911+1G>T (n.1911+1G>T)
c.1842+1G>T (n.1842+1G>T)
c.1833+1G>T (n.1833+1G>T)
c.1743+1G>T (n.1743+1G>T)
c.1278+1G>T (n.1278+1G>T)
c.447+1G>T
14g.87939904C>GCA390745396GALCc.1911+1G>C (n.1911+1G>C)
c.1842+1G>C (n.1842+1G>C)
c.1833+1G>C (n.1833+1G>C)
c.1743+1G>C (n.1743+1G>C)
c.1278+1G>C (n.1278+1G>C)
c.447+1G>C
14g.87939904C>TCA390745397GALCc.1911+1G>A (n.1911+1G>A)
c.1842+1G>A (n.1842+1G>A)
c.1833+1G>A (n.1833+1G>A)
c.1743+1G>A (n.1743+1G>A)
c.1278+1G>A (n.1278+1G>A)
c.447+1G>A
14g.87939905C>ACA390745398GALCc.1911G>T (p.Lys637Asn)
c.1842G>T (p.Lys614Asn)
c.1833G>T (p.Lys611Asn)
c.1743G>T (p.Lys581Asn)
c.1278G>T (p.Lys426Asn)
c.447G>T
14g.87939905C=CA2153352685GALCc.1911G= (p.Lys637=)
c.1842G= (p.Lys614=)
c.1833G= (p.Lys611=)
c.1743G= (p.Lys581=)
c.1278G= (p.Lys426=)
c.447G=
14g.87939905C>GCA390745399GALCc.1911G>C (p.Lys637Asn)
c.1842G>C (p.Lys614Asn)
c.1833G>C (p.Lys611Asn)
c.1743G>C (p.Lys581Asn)
c.1278G>C (p.Lys426Asn)
c.447G>C
14g.87939905C>TCA7296874GALCc.1911G>A (p.Lys637=)
c.1842G>A (p.Lys614=)
c.1833G>A (p.Lys611=)
c.1743G>A (p.Lys581=)
c.1278G>A (p.Lys426=)
c.447G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.87939906T>ACA390745400GALCc.1910A>T (p.Lys637Met)
c.1841A>T (p.Lys614Met)
c.1832A>T (p.Lys611Met)
c.1742A>T (p.Lys581Met)
c.1277A>T (p.Lys426Met)
c.446A>T
14g.87939906T>CCA390745401GALCc.1910A>G (p.Lys637Arg)
c.1841A>G (p.Lys614Arg)
c.1832A>G (p.Lys611Arg)
c.1742A>G (p.Lys581Arg)
c.1277A>G (p.Lys426Arg)
c.446A>G
 gnomAD v4
14g.87939906T>GCA390745402GALCc.1910A>C (p.Lys637Thr)
c.1841A>C (p.Lys614Thr)
c.1832A>C (p.Lys611Thr)
c.1742A>C (p.Lys581Thr)
c.1277A>C (p.Lys426Thr)
c.446A>C
14g.87939907T>ACA390745405GALCc.1909A>T (p.Lys637Ter)
c.1840A>T (p.Lys614Ter)
c.1831A>T (p.Lys611Ter)
c.1741A>T (p.Lys581Ter)
c.1276A>T (p.Lys426Ter)
c.445A>T
14g.87939907T>CCA390745403GALCc.1909A>G (p.Lys637Glu)
c.1840A>G (p.Lys614Glu)
c.1831A>G (p.Lys611Glu)
c.1741A>G (p.Lys581Glu)
c.1276A>G (p.Lys426Glu)
c.445A>G
14g.87939907T>GCA390745404GALCc.1909A>C (p.Lys637Gln)
c.1840A>C (p.Lys614Gln)
c.1831A>C (p.Lys611Gln)
c.1741A>C (p.Lys581Gln)
c.1276A>C (p.Lys426Gln)
c.445A>C
14g.87939908A=CA2153352686GALCc.1908T= (p.Ile636=)
c.1839T= (p.Ile613=)
c.1830T= (p.Ile610=)
c.1740T= (p.Ile580=)
c.1275T= (p.Ile425=)
c.444T=
14g.87939908A>CCA390745406GALCc.1908T>G (p.Ile636Met)
c.1839T>G (p.Ile613Met)
c.1830T>G (p.Ile610Met)
c.1740T>G (p.Ile580Met)
c.1275T>G (p.Ile425Met)
c.444T>G
14g.87939908A>GCA7296875GALCc.1908T>C (p.Ile636=)
c.1839T>C (p.Ile613=)
c.1830T>C (p.Ile610=)
c.1740T>C (p.Ile580=)
c.1275T>C (p.Ile425=)
c.444T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.87939908A>TCA487355282GALCc.1908T>A (p.Ile636=)
c.1839T>A (p.Ile613=)
c.1830T>A (p.Ile610=)
c.1740T>A (p.Ile580=)
c.1275T>A (p.Ile425=)
c.444T>A
 gnomAD v4
14g.87939909A>CCA390745407GALCc.1907T>G (p.Ile636Ser)
c.1838T>G (p.Ile613Ser)
c.1829T>G (p.Ile610Ser)
c.1739T>G (p.Ile580Ser)
c.1274T>G (p.Ile425Ser)
c.443T>G
14g.87939909A>GCA390745408GALCc.1907T>C (p.Ile636Thr)
c.1838T>C (p.Ile613Thr)
c.1829T>C (p.Ile610Thr)
c.1739T>C (p.Ile580Thr)
c.1274T>C (p.Ile425Thr)
c.443T>C
14g.87939909A>TCA390745409GALCc.1907T>A (p.Ile636Asn)
c.1838T>A (p.Ile613Asn)
c.1829T>A (p.Ile610Asn)
c.1739T>A (p.Ile580Asn)
c.1274T>A (p.Ile425Asn)
c.443T>A
14g.87939910T>ACA390745410GALCc.1906A>T (p.Ile636Phe)
c.1837A>T (p.Ile613Phe)
c.1828A>T (p.Ile610Phe)
c.1738A>T (p.Ile580Phe)
c.1273A>T (p.Ile425Phe)
c.442A>T
14g.87939910T>CCA390745411GALCc.1906A>G (p.Ile636Val)
c.1837A>G (p.Ile613Val)
c.1828A>G (p.Ile610Val)
c.1738A>G (p.Ile580Val)
c.1273A>G (p.Ile425Val)
c.442A>G
14g.87939910T>GCA390745412GALCc.1906A>C (p.Ile636Leu)
c.1837A>C (p.Ile613Leu)
c.1828A>C (p.Ile610Leu)
c.1738A>C (p.Ile580Leu)
c.1273A>C (p.Ile425Leu)
c.442A>C
14g.87939911A>CCA487355283GALCc.1905T>G (p.Thr635=)
c.1836T>G (p.Thr612=)
c.1827T>G (p.Thr609=)
c.1737T>G (p.Thr579=)
c.1272T>G (p.Thr424=)
c.441T>G
14g.87939911A>GCA487355284GALCc.1905T>C (p.Thr635=)
c.1836T>C (p.Thr612=)
c.1827T>C (p.Thr609=)
c.1737T>C (p.Thr579=)
c.1272T>C (p.Thr424=)
c.441T>C
 gnomAD v4
14g.87939911A>TCA487355285GALCc.1905T>A (p.Thr635=)
c.1836T>A (p.Thr612=)
c.1827T>A (p.Thr609=)
c.1737T>A (p.Thr579=)
c.1272T>A (p.Thr424=)
c.441T>A
14g.87939912G>ACA390745413GALCc.1904C>T (p.Thr635Ile)
c.1835C>T (p.Thr612Ile)
c.1826C>T (p.Thr609Ile)
c.1736C>T (p.Thr579Ile)
c.1271C>T (p.Thr424Ile)
c.440C>T
14g.87939912G>CCA390745414GALCc.1904C>G (p.Thr635Ser)
c.1835C>G (p.Thr612Ser)
c.1826C>G (p.Thr609Ser)
c.1736C>G (p.Thr579Ser)
c.1271C>G (p.Thr424Ser)
c.440C>G
14g.87939912G=CA2153352687GALCc.1904C= (p.Thr635=)
c.1835C= (p.Thr612=)
c.1826C= (p.Thr609=)
c.1736C= (p.Thr579=)
c.1271C= (p.Thr424=)
c.440C=
14g.87939912G>TCA7296876GALCc.1904C>A (p.Thr635Asn)
c.1835C>A (p.Thr612Asn)
c.1826C>A (p.Thr609Asn)
c.1736C>A (p.Thr579Asn)
c.1271C>A (p.Thr424Asn)
c.440C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.87939913T>ACA390745417GALCc.1903A>T (p.Thr635Ser)
c.1834A>T (p.Thr612Ser)
c.1825A>T (p.Thr609Ser)
c.1735A>T (p.Thr579Ser)
c.1270A>T (p.Thr424Ser)
c.439A>T
14g.87939913T>CCA390745416GALCc.1903A>G (p.Thr635Ala)
c.1834A>G (p.Thr612Ala)
c.1825A>G (p.Thr609Ala)
c.1735A>G (p.Thr579Ala)
c.1270A>G (p.Thr424Ala)
c.439A>G
14g.87939913T>GCA390745415GALCc.1903A>C (p.Thr635Pro)
c.1834A>C (p.Thr612Pro)
c.1825A>C (p.Thr609Pro)
c.1735A>C (p.Thr579Pro)
c.1270A>C (p.Thr424Pro)
c.439A>C
14g.87939914T>ACA390745418GALCc.1902A>T (p.Leu634Phe)
c.1833A>T (p.Leu611Phe)
c.1824A>T (p.Leu608Phe)
c.1734A>T (p.Leu578Phe)
c.1269A>T (p.Leu423Phe)
c.438A>T
14g.87939914T>CCA487355286GALCc.1902A>G (p.Leu634=)
c.1833A>G (p.Leu611=)
c.1824A>G (p.Leu608=)
c.1734A>G (p.Leu578=)
c.1269A>G (p.Leu423=)
c.438A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.87939914T>GCA390745419GALCc.1902A>C (p.Leu634Phe)
c.1833A>C (p.Leu611Phe)
c.1824A>C (p.Leu608Phe)
c.1734A>C (p.Leu578Phe)
c.1269A>C (p.Leu423Phe)
c.438A>C
14g.87939914T=CA2153352688GALCc.1902A= (p.Leu634=)
c.1833A= (p.Leu611=)
c.1824A= (p.Leu608=)
c.1734A= (p.Leu578=)
c.1269A= (p.Leu423=)
c.438A=
14g.87939914_87939915delCA912979937GALCc.1901_1902del (p.Leu634TyrfsTer3)
c.1832_1833del (p.Leu611TyrfsTer3)
c.1823_1824del (p.Leu608TyrfsTer3)
c.1733_1734del (p.Leu578TyrfsTer3)
c.1268_1269del (p.Leu423TyrfsTer3)
c.437_438del
14g.87939914_87939915delinsTACA2153352689GALCc.1901_1902delinsTA (p.Leu634=)
c.1832_1833delinsTA (p.Leu611=)
c.1823_1824delinsTA (p.Leu608=)
c.1733_1734delinsTA (p.Leu578=)
c.1268_1269delinsTA (p.Leu423=)
c.437_438delinsTA
14g.87939915A=CA2153352690GALCc.1901T= (p.Leu634=)
c.1832T= (p.Leu611=)
c.1823T= (p.Leu608=)
c.1733T= (p.Leu578=)
c.1268T= (p.Leu423=)
c.437T=
14g.87939915A>CCA390745420GALCc.1901T>G (p.Leu634Ter)
c.1832T>G (p.Leu611Ter)
c.1823T>G (p.Leu608Ter)
c.1733T>G (p.Leu578Ter)
c.1268T>G (p.Leu423Ter)
c.437T>G
14g.87939915A>GCA7296877GALCc.1901T>C (p.Leu634Ser)
c.1832T>C (p.Leu611Ser)
c.1823T>C (p.Leu608Ser)
c.1733T>C (p.Leu578Ser)
c.1268T>C (p.Leu423Ser)
c.437T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.87939915A>TCA390745421GALCc.1901T>A (p.Leu634Ter)
c.1832T>A (p.Leu611Ter)
c.1823T>A (p.Leu608Ter)
c.1733T>A (p.Leu578Ter)
c.1268T>A (p.Leu423Ter)
c.437T>A
14g.87939916delCA658824342GALCc.1901del (p.Leu634Ter)
c.1832del (p.Leu611Ter)
c.1823del (p.Leu608Ter)
c.1733del (p.Leu578Ter)
c.1268del (p.Leu423Ter)
c.437del
 ClinVar dbSNP
14g.87939915_87939920delinsAACGTGCA2153352691GALCc.1896_1901delinsCACGTT (p.Leu632=)
c.1827_1832delinsCACGTT (p.Leu609=)
c.1818_1823delinsCACGTT (p.Leu606=)
c.1728_1733delinsCACGTT (p.Leu576=)
c.1263_1268delinsCACGTT (p.Leu421=)
c.432_437delinsCACGTT
14g.87939916_87939921delCA912979938GALCc.1896_1901del (p.Thr633_Leu634del)
c.1827_1832del (p.Thr610_Leu611del)
c.1818_1823del (p.Thr607_Leu608del)
c.1728_1733del (p.Thr577_Leu578del)
c.1263_1268del (p.Thr422_Leu423del)
c.432_437del
14g.87939916A=CA2153352692GALCc.1900T= (p.Leu634=)
c.1831T= (p.Leu611=)
c.1822T= (p.Leu608=)
c.1732T= (p.Leu578=)
c.1267T= (p.Leu423=)
c.436T=
14g.87939916A>CCA390745422GALCc.1900T>G (p.Leu634Val)
c.1831T>G (p.Leu611Val)
c.1822T>G (p.Leu608Val)
c.1732T>G (p.Leu578Val)
c.1267T>G (p.Leu423Val)
c.436T>G
 gnomAD v4
14g.87939916A>GCA487355287GALCc.1900T>C (p.Leu634=)
c.1831T>C (p.Leu611=)
c.1822T>C (p.Leu608=)
c.1732T>C (p.Leu578=)
c.1267T>C (p.Leu423=)
c.436T>C
14g.87939916A>TCA390745423GALCc.1900T>A (p.Leu634Ile)
c.1831T>A (p.Leu611Ile)
c.1822T>A (p.Leu608Ile)
c.1732T>A (p.Leu578Ile)
c.1267T>A (p.Leu423Ile)
c.436T>A
 dbSNP
14g.87939917_87939921delCA7296878GALCc.1896_1900del (p.Thr633AsnfsTer3)
c.1827_1831del (p.Thr610AsnfsTer3)
c.1818_1822del (p.Thr607AsnfsTer3)
c.1728_1732del (p.Thr577AsnfsTer3)
c.1263_1267del (p.Thr422AsnfsTer3)
c.432_436del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.87939917delCA2695219785GALCc.1899del (p.Leu634Ter)
c.1830del (p.Leu611Ter)
c.1821del (p.Leu608Ter)
c.1731del (p.Leu578Ter)
c.1266del (p.Leu423Ter)
c.435del
14g.87939917C>ACA7296879GALCc.1899G>T (p.Thr633=)
c.1830G>T (p.Thr610=)
c.1821G>T (p.Thr607=)
c.1731G>T (p.Thr577=)
c.1266G>T (p.Thr422=)
c.435G>T
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
14g.87939917C=CA2153352693GALCc.1899G= (p.Thr633=)
c.1830G= (p.Thr610=)
c.1821G= (p.Thr607=)
c.1731G= (p.Thr577=)
c.1266G= (p.Thr422=)
c.435G=
14g.87939917C>GCA487355288GALCc.1899G>C (p.Thr633=)
c.1830G>C (p.Thr610=)
c.1821G>C (p.Thr607=)
c.1731G>C (p.Thr577=)
c.1266G>C (p.Thr422=)
c.435G>C
14g.87939917C>TCA7296880GALCc.1899G>A (p.Thr633=)
c.1830G>A (p.Thr610=)
c.1821G>A (p.Thr607=)
c.1731G>A (p.Thr577=)
c.1266G>A (p.Thr422=)
c.435G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.87939918G>ACA7296881GALCc.1898C>T (p.Thr633Met)
c.1829C>T (p.Thr610Met)
c.1820C>T (p.Thr607Met)
c.1730C>T (p.Thr577Met)
c.1265C>T (p.Thr422Met)
c.434C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.87939918G>CCA390745424GALCc.1898C>G (p.Thr633Arg)
c.1829C>G (p.Thr610Arg)
c.1820C>G (p.Thr607Arg)
c.1730C>G (p.Thr577Arg)
c.1265C>G (p.Thr422Arg)
c.434C>G
 ClinVar dbSNP
14g.87939918G=CA2153352694GALCc.1898C= (p.Thr633=)
c.1829C= (p.Thr610=)
c.1820C= (p.Thr607=)
c.1730C= (p.Thr577=)
c.1265C= (p.Thr422=)
c.434C=
14g.87939918G>TCA390745425GALCc.1898C>A (p.Thr633Lys)
c.1829C>A (p.Thr610Lys)
c.1820C>A (p.Thr607Lys)
c.1730C>A (p.Thr577Lys)
c.1265C>A (p.Thr422Lys)
c.434C>A
 gnomAD v4
14g.87939919T>ACA390745428GALCc.1897A>T (p.Thr633Ser)
c.1828A>T (p.Thr610Ser)
c.1819A>T (p.Thr607Ser)
c.1729A>T (p.Thr577Ser)
c.1264A>T (p.Thr422Ser)
c.433A>T
14g.87939919T>CCA390745426GALCc.1897A>G (p.Thr633Ala)
c.1828A>G (p.Thr610Ala)
c.1819A>G (p.Thr607Ala)
c.1729A>G (p.Thr577Ala)
c.1264A>G (p.Thr422Ala)
c.433A>G
14g.87939919T>GCA390745427GALCc.1897A>C (p.Thr633Pro)
c.1828A>C (p.Thr610Pro)
c.1819A>C (p.Thr607Pro)
c.1729A>C (p.Thr577Pro)
c.1264A>C (p.Thr422Pro)
c.433A>C
14g.87939919dupCA16619888GALCc.1897dup (p.Thr633AsnfsTer5)
c.1828dup (p.Thr610AsnfsTer5)
c.1819dup (p.Thr607AsnfsTer5)
c.1729dup (p.Thr577AsnfsTer5)
c.1264dup (p.Thr422AsnfsTer5)
c.433dup
 ClinVar dbSNP
14g.87939920G>ACA487355289GALCc.1896C>T (p.Leu632=)
c.1827C>T (p.Leu609=)
c.1818C>T (p.Leu606=)
c.1728C>T (p.Leu576=)
c.1263C>T (p.Leu421=)
c.432C>T
 ClinVar gnomAD v4
14g.87939920G>CCA487355290GALCc.1896C>G (p.Leu632=)
c.1827C>G (p.Leu609=)
c.1818C>G (p.Leu606=)
c.1728C>G (p.Leu576=)
c.1263C>G (p.Leu421=)
c.432C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.87939920G=CA2153352695GALCc.1896C= (p.Leu632=)
c.1827C= (p.Leu609=)
c.1818C= (p.Leu606=)
c.1728C= (p.Leu576=)
c.1263C= (p.Leu421=)
c.432C=
14g.87939920G>TCA487355291GALCc.1896C>A (p.Leu632=)
c.1827C>A (p.Leu609=)
c.1818C>A (p.Leu606=)
c.1728C>A (p.Leu576=)
c.1263C>A (p.Leu421=)
c.432C>A
 gnomAD v4
14g.87939921A=CA2153352696GALCc.1895T= (p.Leu632=)
c.1826T= (p.Leu609=)
c.1817T= (p.Leu606=)
c.1727T= (p.Leu576=)
c.1262T= (p.Leu421=)
c.431T=
14g.87939921A>CCA390745429GALCc.1895T>G (p.Leu632Arg)
c.1826T>G (p.Leu609Arg)
c.1817T>G (p.Leu606Arg)
c.1727T>G (p.Leu576Arg)
c.1262T>G (p.Leu421Arg)
c.431T>G
 gnomAD v4
14g.87939921A>GCA390745430GALCc.1895T>C (p.Leu632Pro)
c.1826T>C (p.Leu609Pro)
c.1817T>C (p.Leu606Pro)
c.1727T>C (p.Leu576Pro)
c.1262T>C (p.Leu421Pro)
c.431T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.87939921A>TCA390745431GALCc.1895T>A (p.Leu632His)
c.1826T>A (p.Leu609His)
c.1817T>A (p.Leu606His)
c.1727T>A (p.Leu576His)
c.1262T>A (p.Leu421His)
c.431T>A
14g.87939922G>ACA390745432GALCc.1894C>T (p.Leu632Phe)
c.1825C>T (p.Leu609Phe)
c.1816C>T (p.Leu606Phe)
c.1726C>T (p.Leu576Phe)
c.1261C>T (p.Leu421Phe)
c.430C>T
 dbSNP gnomAD v4
14g.87939922G>CCA390745433GALCc.1894C>G (p.Leu632Val)
c.1825C>G (p.Leu609Val)
c.1816C>G (p.Leu606Val)
c.1726C>G (p.Leu576Val)
c.1261C>G (p.Leu421Val)
c.430C>G
14g.87939922G=CA2153352697GALCc.1894C= (p.Leu632=)
c.1825C= (p.Leu609=)
c.1816C= (p.Leu606=)
c.1726C= (p.Leu576=)
c.1261C= (p.Leu421=)
c.430C=
14g.87939922G>TCA390745434GALCc.1894C>A (p.Leu632Ile)
c.1825C>A (p.Leu609Ile)
c.1816C>A (p.Leu606Ile)
c.1726C>A (p.Leu576Ile)
c.1261C>A (p.Leu421Ile)
c.430C>A
14g.87939923_87939939delCA2580088855GALCc.1878_1894del (p.Lys627HisfsTer5)
c.1809_1825del (p.Lys604HisfsTer5)
c.1800_1816del (p.Lys601HisfsTer5)
c.1710_1726del (p.Lys571HisfsTer5)
c.1245_1261del (p.Lys416HisfsTer5)
c.414_430del
 ClinVar
14g.87939923T>ACA487355294GALCc.1893A>T (p.Thr631=)
c.1824A>T (p.Thr608=)
c.1815A>T (p.Thr605=)
c.1725A>T (p.Thr575=)
c.1260A>T (p.Thr420=)
c.429A>T
14g.87939923T>CCA487355292GALCc.1893A>G (p.Thr631=)
c.1824A>G (p.Thr608=)
c.1815A>G (p.Thr605=)
c.1725A>G (p.Thr575=)
c.1260A>G (p.Thr420=)
c.429A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.87939923T>GCA487355293GALCc.1893A>C (p.Thr631=)
c.1824A>C (p.Thr608=)
c.1815A>C (p.Thr605=)
c.1725A>C (p.Thr575=)
c.1260A>C (p.Thr420=)
c.429A>C
14g.87939923T=CA2153352698GALCc.1893A= (p.Thr631=)
c.1824A= (p.Thr608=)
c.1815A= (p.Thr605=)
c.1725A= (p.Thr575=)
c.1260A= (p.Thr420=)
c.429A=
14g.87939924delCA2802491929GALCc.1892del (p.Thr631AsnfsTer4)
c.1823del (p.Thr608AsnfsTer4)
c.1814del (p.Thr605AsnfsTer4)
c.1724del (p.Thr575AsnfsTer4)
c.1259del (p.Thr420AsnfsTer4)
c.428del
14g.87939924G>ACA390745435GALCc.1892C>T (p.Thr631Ile)
c.1823C>T (p.Thr608Ile)
c.1814C>T (p.Thr605Ile)
c.1724C>T (p.Thr575Ile)
c.1259C>T (p.Thr420Ile)
c.428C>T
 ClinVar dbSNP
14g.87939924G>CCA390745436GALCc.1892C>G (p.Thr631Arg)
c.1823C>G (p.Thr608Arg)
c.1814C>G (p.Thr605Arg)
c.1724C>G (p.Thr575Arg)
c.1259C>G (p.Thr420Arg)
c.428C>G
14g.87939924G=CA2153352699GALCc.1892C= (p.Thr631=)
c.1823C= (p.Thr608=)
c.1814C= (p.Thr605=)
c.1724C= (p.Thr575=)
c.1259C= (p.Thr420=)
c.428C=
14g.87939924G>TCA390745437GALCc.1892C>A (p.Thr631Lys)
c.1823C>A (p.Thr608Lys)
c.1814C>A (p.Thr605Lys)
c.1724C>A (p.Thr575Lys)
c.1259C>A (p.Thr420Lys)
c.428C>A
 gnomAD v4
14g.87939925T>ACA390745438GALCc.1891A>T (p.Thr631Ser)
c.1822A>T (p.Thr608Ser)
c.1813A>T (p.Thr605Ser)
c.1723A>T (p.Thr575Ser)
c.1258A>T (p.Thr420Ser)
c.427A>T
 gnomAD v4
14g.87939925T>CCA390745439GALCc.1891A>G (p.Thr631Ala)
c.1822A>G (p.Thr608Ala)
c.1813A>G (p.Thr605Ala)
c.1723A>G (p.Thr575Ala)
c.1258A>G (p.Thr420Ala)
c.427A>G
 COSMIC COSMIC
14g.87939925T>GCA390745440GALCc.1891A>C (p.Thr631Pro)
c.1822A>C (p.Thr608Pro)
c.1813A>C (p.Thr605Pro)
c.1723A>C (p.Thr575Pro)
c.1258A>C (p.Thr420Pro)
c.427A>C
14g.87939927_87939928delCA2575661024GALCc.1890_1891del (p.Leu632HisfsTer5)
c.1821_1822del (p.Leu609HisfsTer5)
c.1812_1813del (p.Leu606HisfsTer5)
c.1722_1723del (p.Leu576HisfsTer5)
c.1257_1258del (p.Leu421HisfsTer5)
c.426_427del
14g.87939926A=CA2153352700GALCc.1890T= (p.Tyr630=)
c.1821T= (p.Tyr607=)
c.1812T= (p.Tyr604=)
c.1722T= (p.Tyr574=)
c.1257T= (p.Tyr419=)
c.426T=
14g.87939926A>CCA390745441GALCc.1890T>G (p.Tyr630Ter)
c.1821T>G (p.Tyr607Ter)
c.1812T>G (p.Tyr604Ter)
c.1722T>G (p.Tyr574Ter)
c.1257T>G (p.Tyr419Ter)
c.426T>G
14g.87939926A>GCA487355295GALCc.1890T>C (p.Tyr630=)
c.1821T>C (p.Tyr607=)
c.1812T>C (p.Tyr604=)
c.1722T>C (p.Tyr574=)
c.1257T>C (p.Tyr419=)
c.426T>C
 ClinVar dbSNP gnomAD v4
14g.87939926A>TCA16041690GALCc.1890T>A (p.Tyr630Ter)
c.1821T>A (p.Tyr607Ter)
c.1812T>A (p.Tyr604Ter)
c.1722T>A (p.Tyr574Ter)
c.1257T>A (p.Tyr419Ter)
c.426T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.87939927T>ACA390745442GALCc.1889A>T (p.Tyr630Phe)
c.1820A>T (p.Tyr607Phe)
c.1811A>T (p.Tyr604Phe)
c.1721A>T (p.Tyr574Phe)
c.1256A>T (p.Tyr419Phe)
c.425A>T
14g.87939927T>CCA390745444GALCc.1889A>G (p.Tyr630Cys)
c.1820A>G (p.Tyr607Cys)
c.1811A>G (p.Tyr604Cys)
c.1721A>G (p.Tyr574Cys)
c.1256A>G (p.Tyr419Cys)
c.425A>G
14g.87939927T>GCA390745443GALCc.1889A>C (p.Tyr630Ser)
c.1820A>C (p.Tyr607Ser)
c.1811A>C (p.Tyr604Ser)
c.1721A>C (p.Tyr574Ser)
c.1256A>C (p.Tyr419Ser)
c.425A>C
14g.87939927_87939944delinsTACCATTTTTTTGCTGTACA2153352701GALCc.1872_1889delinsTACAGCAAAAAAATGGTA (p.Val624=)
c.1803_1820delinsTACAGCAAAAAAATGGTA (p.Val601=)
c.1794_1811delinsTACAGCAAAAAAATGGTA (p.Val598=)
c.1704_1721delinsTACAGCAAAAAAATGGTA (p.Val568=)
c.1239_1256delinsTACAGCAAAAAAATGGTA (p.Val413=)
c.408_425delinsTACAGCAAAAAAATGGTA
14g.87939928A>CCA390745445GALCc.1888T>G (p.Tyr630Asp)
c.1819T>G (p.Tyr607Asp)
c.1810T>G (p.Tyr604Asp)
c.1720T>G (p.Tyr574Asp)
c.1255T>G (p.Tyr419Asp)
c.424T>G
14g.87939928A>GCA390745446GALCc.1888T>C (p.Tyr630His)
c.1819T>C (p.Tyr607His)
c.1810T>C (p.Tyr604His)
c.1720T>C (p.Tyr574His)
c.1255T>C (p.Tyr419His)
c.424T>C
 COSMIC COSMIC
14g.87939928A>TCA390745447GALCc.1888T>A (p.Tyr630Asn)
c.1819T>A (p.Tyr607Asn)
c.1810T>A (p.Tyr604Asn)
c.1720T>A (p.Tyr574Asn)
c.1255T>A (p.Tyr419Asn)
c.424T>A
14g.87939928_87939929delinsACCA2153352702GALCc.1887_1888delinsGT (p.Trp629=)
c.1818_1819delinsGT (p.Trp606=)
c.1809_1810delinsGT (p.Trp603=)
c.1719_1720delinsGT (p.Trp573=)
c.1254_1255delinsGT (p.Trp418=)
c.423_424delinsGT
14g.87939930_87939946delCA965694387GALCc.1872_1888del (p.Thr625TyrfsTer7)
c.1803_1819del (p.Thr602TyrfsTer7)
c.1794_1810del (p.Thr599TyrfsTer7)
c.1704_1720del (p.Thr569TyrfsTer7)
c.1239_1255del (p.Thr414TyrfsTer7)
c.408_424del
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.87939929C>ACA390745448GALCc.1887G>T (p.Trp629Cys)
c.1818G>T (p.Trp606Cys)
c.1809G>T (p.Trp603Cys)
c.1719G>T (p.Trp573Cys)
c.1254G>T (p.Trp418Cys)
c.423G>T
14g.87939929C=CA2153352703GALCc.1887G= (p.Trp629=)
c.1818G= (p.Trp606=)
c.1809G= (p.Trp603=)
c.1719G= (p.Trp573=)
c.1254G= (p.Trp418=)
c.423G=
14g.87939929C>GCA390745449GALCc.1887G>C (p.Trp629Cys)
c.1818G>C (p.Trp606Cys)
c.1809G>C (p.Trp603Cys)
c.1719G>C (p.Trp573Cys)
c.1254G>C (p.Trp418Cys)
c.423G>C
14g.87939929C>TCA7296882GALCc.1887G>A (p.Trp629Ter)
c.1818G>A (p.Trp606Ter)
c.1809G>A (p.Trp603Ter)
c.1719G>A (p.Trp573Ter)
c.1254G>A (p.Trp418Ter)
c.423G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.87939930delCA1139663613GALCc.1887del (p.Trp629CysfsTer6)
c.1818del (p.Trp606CysfsTer6)
c.1809del (p.Trp603CysfsTer6)
c.1719del (p.Trp573CysfsTer6)
c.1254del (p.Trp418CysfsTer6)
c.423del
 ClinVar dbSNP
14g.87939930C>ACA390745450GALCc.1886G>T (p.Trp629Leu)
c.1817G>T (p.Trp606Leu)
c.1808G>T (p.Trp603Leu)
c.1718G>T (p.Trp573Leu)
c.1253G>T (p.Trp418Leu)
c.422G>T
 ClinVar dbSNP
14g.87939930C=CA2153352704GALCc.1886G= (p.Trp629=)
c.1817G= (p.Trp606=)
c.1808G= (p.Trp603=)
c.1718G= (p.Trp573=)
c.1253G= (p.Trp418=)
c.422G=
14g.87939930C>GCA390745451GALCc.1886G>C (p.Trp629Ser)
c.1817G>C (p.Trp606Ser)
c.1808G>C (p.Trp603Ser)
c.1718G>C (p.Trp573Ser)
c.1253G>C (p.Trp418Ser)
c.422G>C
14g.87939930C>TCA390745452GALCc.1886G>A (p.Trp629Ter)
c.1817G>A (p.Trp606Ter)
c.1808G>A (p.Trp603Ter)
c.1718G>A (p.Trp573Ter)
c.1253G>A (p.Trp418Ter)
c.422G>A
14g.87939931A>CCA390745453GALCc.1885T>G (p.Trp629Gly)
c.1816T>G (p.Trp606Gly)
c.1807T>G (p.Trp603Gly)
c.1717T>G (p.Trp573Gly)
c.1252T>G (p.Trp418Gly)
c.421T>G
14g.87939931A>GCA390745454GALCc.1885T>C (p.Trp629Arg)
c.1816T>C (p.Trp606Arg)
c.1807T>C (p.Trp603Arg)
c.1717T>C (p.Trp573Arg)
c.1252T>C (p.Trp418Arg)
c.421T>C
14g.87939931A>TCA390745455GALCc.1885T>A (p.Trp629Arg)
c.1816T>A (p.Trp606Arg)
c.1807T>A (p.Trp603Arg)
c.1717T>A (p.Trp573Arg)
c.1252T>A (p.Trp418Arg)
c.421T>A
14g.87939931dupCA912979939GALCc.1885dup (p.Trp629LeufsTer9)
c.1816dup (p.Trp606LeufsTer9)
c.1807dup (p.Trp603LeufsTer9)
c.1717dup (p.Trp573LeufsTer9)
c.1252dup (p.Trp418LeufsTer9)
c.421dup
14g.87939931_87939932delinsATCA2153352705GALCc.1884_1885delinsAT (p.Lys628=)
c.1815_1816delinsAT (p.Lys605=)
c.1806_1807delinsAT (p.Lys602=)
c.1716_1717delinsAT (p.Lys572=)
c.1251_1252delinsAT (p.Lys417=)
c.420_421delinsAT
14g.87939932T>ACA390745457GALCc.1884A>T (p.Lys628Asn)
c.1815A>T (p.Lys605Asn)
c.1806A>T (p.Lys602Asn)
c.1716A>T (p.Lys572Asn)
c.1251A>T (p.Lys417Asn)
c.420A>T
14g.87939932T>CCA7296883GALCc.1884A>G (p.Lys628=)
c.1815A>G (p.Lys605=)
c.1806A>G (p.Lys602=)
c.1716A>G (p.Lys572=)
c.1251A>G (p.Lys417=)
c.420A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.87939932T>GCA390745456GALCc.1884A>C (p.Lys628Asn)
c.1815A>C (p.Lys605Asn)
c.1806A>C (p.Lys602Asn)
c.1716A>C (p.Lys572Asn)
c.1251A>C (p.Lys417Asn)
c.420A>C
14g.87939932T=CA2153352706GALCc.1884A= (p.Lys628=)
c.1815A= (p.Lys605=)
c.1806A= (p.Lys602=)
c.1716A= (p.Lys572=)
c.1251A= (p.Lys417=)
c.420A=
14g.87939938dupCA615270109GALCc.1884dup (p.Trp629MetfsTer9)
c.1815dup (p.Trp606MetfsTer9)
c.1806dup (p.Trp603MetfsTer9)
c.1716dup (p.Trp573MetfsTer9)
c.1251dup (p.Trp418MetfsTer9)
c.420dup
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
14g.87939938delCA645581076GALCc.1884del (p.Lys628AsnfsTer7)
c.1815del (p.Lys605AsnfsTer7)
c.1806del (p.Lys602AsnfsTer7)
c.1716del (p.Lys572AsnfsTer7)
c.1251del (p.Lys417AsnfsTer7)
c.420del
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
14g.87939933T>ACA390745458GALCc.1883A>T (p.Lys628Ile)
c.1814A>T (p.Lys605Ile)
c.1805A>T (p.Lys602Ile)
c.1715A>T (p.Lys572Ile)
c.1250A>T (p.Lys417Ile)
c.419A>T
14g.87939933T>CCA390745459GALCc.1883A>G (p.Lys628Arg)
c.1814A>G (p.Lys605Arg)
c.1805A>G (p.Lys602Arg)
c.1715A>G (p.Lys572Arg)
c.1250A>G (p.Lys417Arg)
c.419A>G
14g.87939933T>GCA390745460GALCc.1883A>C (p.Lys628Thr)
c.1814A>C (p.Lys605Thr)
c.1805A>C (p.Lys602Thr)
c.1715A>C (p.Lys572Thr)
c.1250A>C (p.Lys417Thr)
c.419A>C
 COSMIC COSMIC
14g.87939934T>ACA390745461GALCc.1882A>T (p.Lys628Ter)
c.1813A>T (p.Lys605Ter)
c.1804A>T (p.Lys602Ter)
c.1714A>T (p.Lys572Ter)
c.1249A>T (p.Lys417Ter)
c.418A>T
 ClinVar
14g.87939934T>CCA390745462GALCc.1882A>G (p.Lys628Glu)
c.1813A>G (p.Lys605Glu)
c.1804A>G (p.Lys602Glu)
c.1714A>G (p.Lys572Glu)
c.1249A>G (p.Lys417Glu)
c.418A>G
14g.87939934T>GCA390745463GALCc.1882A>C (p.Lys628Gln)
c.1813A>C (p.Lys605Gln)
c.1804A>C (p.Lys602Gln)
c.1714A>C (p.Lys572Gln)
c.1249A>C (p.Lys417Gln)
c.418A>C
14g.87939935T>ACA390745464GALCc.1881A>T (p.Lys627Asn)
c.1812A>T (p.Lys604Asn)
c.1803A>T (p.Lys601Asn)
c.1713A>T (p.Lys571Asn)
c.1248A>T (p.Lys416Asn)
c.417A>T
14g.87939935T>CCA487355296GALCc.1881A>G (p.Lys627=)
c.1812A>G (p.Lys604=)
c.1803A>G (p.Lys601=)
c.1713A>G (p.Lys571=)
c.1248A>G (p.Lys416=)
c.417A>G
14g.87939935T>GCA390745465GALCc.1881A>C (p.Lys627Asn)
c.1812A>C (p.Lys604Asn)
c.1803A>C (p.Lys601Asn)
c.1713A>C (p.Lys571Asn)
c.1248A>C (p.Lys416Asn)
c.417A>C
14g.87939936T>ACA390745466GALCc.1880A>T (p.Lys627Ile)
c.1811A>T (p.Lys604Ile)
c.1802A>T (p.Lys601Ile)
c.1712A>T (p.Lys571Ile)
c.1247A>T (p.Lys416Ile)
c.416A>T
14g.87939936T>CCA390745467GALCc.1880A>G (p.Lys627Arg)
c.1811A>G (p.Lys604Arg)
c.1802A>G (p.Lys601Arg)
c.1712A>G (p.Lys571Arg)
c.1247A>G (p.Lys416Arg)
c.416A>G
14g.87939936T>GCA390745468GALCc.1880A>C (p.Lys627Thr)
c.1811A>C (p.Lys604Thr)
c.1802A>C (p.Lys601Thr)
c.1712A>C (p.Lys571Thr)
c.1247A>C (p.Lys416Thr)
c.416A>C
14g.87939937T>ACA390745471GALCc.1879A>T (p.Lys627Ter)
c.1810A>T (p.Lys604Ter)
c.1801A>T (p.Lys601Ter)
c.1711A>T (p.Lys571Ter)
c.1246A>T (p.Lys416Ter)
c.415A>T
14g.87939937T>CCA390745470GALCc.1879A>G (p.Lys627Glu)
c.1810A>G (p.Lys604Glu)
c.1801A>G (p.Lys601Glu)
c.1711A>G (p.Lys571Glu)
c.1246A>G (p.Lys416Glu)
c.415A>G
14g.87939937T>GCA390745469GALCc.1879A>C (p.Lys627Gln)
c.1810A>C (p.Lys604Gln)
c.1801A>C (p.Lys601Gln)
c.1711A>C (p.Lys571Gln)
c.1246A>C (p.Lys416Gln)
c.415A>C
14g.87939938T>ACA487355297GALCc.1878A>T (p.Ala626=)
c.1809A>T (p.Ala603=)
c.1800A>T (p.Ala600=)
c.1710A>T (p.Ala570=)
c.1245A>T (p.Ala415=)
c.414A>T
14g.87939938T>CCA487355298GALCc.1878A>G (p.Ala626=)
c.1809A>G (p.Ala603=)
c.1800A>G (p.Ala600=)
c.1710A>G (p.Ala570=)
c.1245A>G (p.Ala415=)
c.414A>G
14g.87939938T>GCA7296884GALCc.1878A>C (p.Ala626=)
c.1809A>C (p.Ala603=)
c.1800A>C (p.Ala600=)
c.1710A>C (p.Ala570=)
c.1245A>C (p.Ala415=)
c.414A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.87939938T=CA2153352707GALCc.1878A= (p.Ala626=)
c.1809A= (p.Ala603=)
c.1800A= (p.Ala600=)
c.1710A= (p.Ala570=)
c.1245A= (p.Ala415=)
c.414A=
14g.87939939G>ACA390745472GALCc.1877C>T (p.Ala626Val)
c.1808C>T (p.Ala603Val)
c.1799C>T (p.Ala600Val)
c.1709C>T (p.Ala570Val)
c.1244C>T (p.Ala415Val)
c.413C>T
14g.87939939G>CCA390745473GALCc.1877C>G (p.Ala626Gly)
c.1808C>G (p.Ala603Gly)
c.1799C>G (p.Ala600Gly)
c.1709C>G (p.Ala570Gly)
c.1244C>G (p.Ala415Gly)
c.413C>G
14g.87939939G=CA2153352708GALCc.1877C= (p.Ala626=)
c.1808C= (p.Ala603=)
c.1799C= (p.Ala600=)
c.1709C= (p.Ala570=)
c.1244C= (p.Ala415=)
c.413C=
14g.87939939G>TCA390745474GALCc.1877C>A (p.Ala626Glu)
c.1808C>A (p.Ala603Glu)
c.1799C>A (p.Ala600Glu)
c.1709C>A (p.Ala570Glu)
c.1244C>A (p.Ala415Glu)
c.413C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.87939940C>ACA390745475GALCc.1876G>T (p.Ala626Ser)
c.1807G>T (p.Ala603Ser)
c.1798G>T (p.Ala600Ser)
c.1708G>T (p.Ala570Ser)
c.1243G>T (p.Ala415Ser)
c.412G>T
14g.87939940C=CA2153352709GALCc.1876G= (p.Ala626=)
c.1807G= (p.Ala603=)
c.1798G= (p.Ala600=)
c.1708G= (p.Ala570=)
c.1243G= (p.Ala415=)
c.412G=
14g.87939940C>GCA390745476GALCc.1876G>C (p.Ala626Pro)
c.1807G>C (p.Ala603Pro)
c.1798G>C (p.Ala600Pro)
c.1708G>C (p.Ala570Pro)
c.1243G>C (p.Ala415Pro)
c.412G>C
14g.87939940C>TCA390745477GALCc.1876G>A (p.Ala626Thr)
c.1807G>A (p.Ala603Thr)
c.1798G>A (p.Ala600Thr)
c.1708G>A (p.Ala570Thr)
c.1243G>A (p.Ala415Thr)
c.412G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.87939941T>ACA487355299GALCc.1875A>T (p.Thr625=)
c.1806A>T (p.Thr602=)
c.1797A>T (p.Thr599=)
c.1707A>T (p.Thr569=)
c.1242A>T (p.Thr414=)
c.411A>T
14g.87939941T>CCA7296885GALCc.1875A>G (p.Thr625=)
c.1806A>G (p.Thr602=)
c.1797A>G (p.Thr599=)
c.1707A>G (p.Thr569=)
c.1242A>G (p.Thr414=)
c.411A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.87939941T>GCA487355300GALCc.1875A>C (p.Thr625=)
c.1806A>C (p.Thr602=)
c.1797A>C (p.Thr599=)
c.1707A>C (p.Thr569=)
c.1242A>C (p.Thr414=)
c.411A>C
14g.87939941T=CA2153352710GALCc.1875A= (p.Thr625=)
c.1806A= (p.Thr602=)
c.1797A= (p.Thr599=)
c.1707A= (p.Thr569=)
c.1242A= (p.Thr414=)
c.411A=
14g.87939942G>ACA7296886GALCc.1874C>T (p.Thr625Ile)
c.1805C>T (p.Thr602Ile)
c.1796C>T (p.Thr599Ile)
c.1706C>T (p.Thr569Ile)
c.1241C>T (p.Thr414Ile)
c.410C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.87939942G>CCA390745478GALCc.1874C>G (p.Thr625Arg)
c.1805C>G (p.Thr602Arg)
c.1796C>G (p.Thr599Arg)
c.1706C>G (p.Thr569Arg)
c.1241C>G (p.Thr414Arg)
c.410C>G
14g.87939942G=CA2153352711GALCc.1874C= (p.Thr625=)
c.1805C= (p.Thr602=)
c.1796C= (p.Thr599=)
c.1706C= (p.Thr569=)
c.1241C= (p.Thr414=)
c.410C=
14g.87939942G>TCA390745479GALCc.1874C>A (p.Thr625Lys)
c.1805C>A (p.Thr602Lys)
c.1796C>A (p.Thr599Lys)
c.1706C>A (p.Thr569Lys)
c.1241C>A (p.Thr414Lys)
c.410C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.87939943T>ACA390745480GALCc.1873A>T (p.Thr625Ser)
c.1804A>T (p.Thr602Ser)
c.1795A>T (p.Thr599Ser)
c.1705A>T (p.Thr569Ser)
c.1240A>T (p.Thr414Ser)
c.409A>T
 gnomAD v4
14g.87939943T>CCA390745481GALCc.1873A>G (p.Thr625Ala)
c.1804A>G (p.Thr602Ala)
c.1795A>G (p.Thr599Ala)
c.1705A>G (p.Thr569Ala)
c.1240A>G (p.Thr414Ala)
c.409A>G
14g.87939943T>GCA390745482GALCc.1873A>C (p.Thr625Pro)
c.1804A>C (p.Thr602Pro)
c.1795A>C (p.Thr599Pro)
c.1705A>C (p.Thr569Pro)
c.1240A>C (p.Thr414Pro)
c.409A>C
14g.87939944A=CA2153352712GALCc.1872T= (p.Val624=)
c.1803T= (p.Val601=)
c.1794T= (p.Val598=)
c.1704T= (p.Val568=)
c.1239T= (p.Val413=)
c.408T=
14g.87939944A>CCA487355303GALCc.1872T>G (p.Val624=)
c.1803T>G (p.Val601=)
c.1794T>G (p.Val598=)
c.1704T>G (p.Val568=)
c.1239T>G (p.Val413=)
c.408T>G
14g.87939944A>GCA7296887GALCc.1872T>C (p.Val624=)
c.1803T>C (p.Val601=)
c.1794T>C (p.Val598=)
c.1704T>C (p.Val568=)
c.1239T>C (p.Val413=)
c.408T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.87939944A>TCA487355302GALCc.1872T>A (p.Val624=)
c.1803T>A (p.Val601=)
c.1794T>A (p.Val598=)
c.1704T>A (p.Val568=)
c.1239T>A (p.Val413=)
c.408T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.87939945A=CA2153352713GALCc.1871T= (p.Val624=)
c.1802T= (p.Val601=)
c.1793T= (p.Val598=)
c.1703T= (p.Val568=)
c.1238T= (p.Val413=)
c.407T=
14g.87939945A>CCA390745483GALCc.1871T>G (p.Val624Gly)
c.1802T>G (p.Val601Gly)
c.1793T>G (p.Val598Gly)
c.1703T>G (p.Val568Gly)
c.1238T>G (p.Val413Gly)
c.407T>G
14g.87939945A>GCA390745484GALCc.1871T>C (p.Val624Ala)
c.1802T>C (p.Val601Ala)
c.1793T>C (p.Val598Ala)
c.1703T>C (p.Val568Ala)
c.1238T>C (p.Val413Ala)
c.407T>C
 dbSNP gnomAD v3 gnomAD v4
14g.87939945A>TCA390745485GALCc.1871T>A (p.Val624Asp)
c.1802T>A (p.Val601Asp)
c.1793T>A (p.Val598Asp)
c.1703T>A (p.Val568Asp)
c.1238T>A (p.Val413Asp)
c.407T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.87939946C>ACA390745486GALCc.1870G>T (p.Val624Phe)
c.1801G>T (p.Val601Phe)
c.1792G>T (p.Val598Phe)
c.1702G>T (p.Val568Phe)
c.1237G>T (p.Val413Phe)
c.406G>T
14g.87939946C=CA2153352714GALCc.1870G= (p.Val624=)
c.1801G= (p.Val601=)
c.1792G= (p.Val598=)
c.1702G= (p.Val568=)
c.1237G= (p.Val413=)
c.406G=
14g.87939946C>GCA390745487GALCc.1870G>C (p.Val624Leu)
c.1801G>C (p.Val601Leu)
c.1792G>C (p.Val598Leu)
c.1702G>C (p.Val568Leu)
c.1237G>C (p.Val413Leu)
c.406G>C
14g.87939946C>TCA390745488GALCc.1870G>A (p.Val624Ile)
c.1801G>A (p.Val601Ile)
c.1792G>A (p.Val598Ile)
c.1702G>A (p.Val568Ile)
c.1237G>A (p.Val413Ile)
c.406G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.87939947T>ACA390745489GALCc.1869A>T (p.Glu623Asp)
c.1800A>T (p.Glu600Asp)
c.1791A>T (p.Glu597Asp)
c.1701A>T (p.Glu567Asp)
c.1236A>T (p.Glu412Asp)
c.405A>T
14g.87939947T>CCA487355305GALCc.1869A>G (p.Glu623=)
c.1800A>G (p.Glu600=)
c.1791A>G (p.Glu597=)
c.1701A>G (p.Glu567=)
c.1236A>G (p.Glu412=)
c.405A>G
14g.87939947T>GCA390745490GALCc.1869A>C (p.Glu623Asp)
c.1800A>C (p.Glu600Asp)
c.1791A>C (p.Glu597Asp)
c.1701A>C (p.Glu567Asp)
c.1236A>C (p.Glu412Asp)
c.405A>C
14g.87939948T>ACA390745491GALCc.1868A>T (p.Glu623Val)
c.1799A>T (p.Glu600Val)
c.1790A>T (p.Glu597Val)
c.1700A>T (p.Glu567Val)
c.1235A>T (p.Glu412Val)
c.404A>T
14g.87939948T>CCA390745492GALCc.1868A>G (p.Glu623Gly)
c.1799A>G (p.Glu600Gly)
c.1790A>G (p.Glu597Gly)
c.1700A>G (p.Glu567Gly)
c.1235A>G (p.Glu412Gly)
c.404A>G
14g.87939948T>GCA390745493GALCc.1868A>C (p.Glu623Ala)
c.1799A>C (p.Glu600Ala)
c.1790A>C (p.Glu597Ala)
c.1700A>C (p.Glu567Ala)
c.1235A>C (p.Glu412Ala)
c.404A>C
14g.87939949C>ACA390745494GALCc.1867G>T (p.Glu623Ter)
c.1798G>T (p.Glu600Ter)
c.1789G>T (p.Glu597Ter)
c.1699G>T (p.Glu567Ter)
c.1234G>T (p.Glu412Ter)
c.403G>T
 COSMIC COSMIC
14g.87939949C>GCA390745495GALCc.1867G>C (p.Glu623Gln)
c.1798G>C (p.Glu600Gln)
c.1789G>C (p.Glu597Gln)
c.1699G>C (p.Glu567Gln)
c.1234G>C (p.Glu412Gln)
c.403G>C
14g.87939949C>TCA390745496GALCc.1867G>A (p.Glu623Lys)
c.1798G>A (p.Glu600Lys)
c.1789G>A (p.Glu597Lys)
c.1699G>A (p.Glu567Lys)
c.1234G>A (p.Glu412Lys)
c.403G>A
14g.87939950A>CCA487355308GALCc.1866T>G (p.Val622=)
c.1797T>G (p.Val599=)
c.1788T>G (p.Val596=)
c.1698T>G (p.Val566=)
c.1233T>G (p.Val411=)
c.402T>G
 gnomAD v4
14g.87939950A>GCA487355306GALCc.1866T>C (p.Val622=)
c.1797T>C (p.Val599=)
c.1788T>C (p.Val596=)
c.1698T>C (p.Val566=)
c.1233T>C (p.Val411=)
c.402T>C
14g.87939950A>TCA487355307GALCc.1866T>A (p.Val622=)
c.1797T>A (p.Val599=)
c.1788T>A (p.Val596=)
c.1698T>A (p.Val566=)
c.1233T>A (p.Val411=)
c.402T>A
 gnomAD v4
14g.87939951A=CA2153352715GALCc.1865T= (p.Val622=)
c.1796T= (p.Val599=)
c.1787T= (p.Val596=)
c.1697T= (p.Val566=)
c.1232T= (p.Val411=)
c.401T=
14g.87939951A>CCA390745498GALCc.1865T>G (p.Val622Gly)
c.1796T>G (p.Val599Gly)
c.1787T>G (p.Val596Gly)
c.1697T>G (p.Val566Gly)
c.1232T>G (p.Val411Gly)
c.401T>G
14g.87939951A>GCA390745499GALCc.1865T>C (p.Val622Ala)
c.1796T>C (p.Val599Ala)
c.1787T>C (p.Val596Ala)
c.1697T>C (p.Val566Ala)
c.1232T>C (p.Val411Ala)
c.401T>C
 dbSNP
14g.87939951A>TCA390745497GALCc.1865T>A (p.Val622Asp)
c.1796T>A (p.Val599Asp)
c.1787T>A (p.Val596Asp)
c.1697T>A (p.Val566Asp)
c.1232T>A (p.Val411Asp)
c.401T>A
 dbSNP gnomAD v2 gnomAD v4
14g.87939952C>ACA390745501GALCc.1864G>T (p.Val622Phe)
c.1795G>T (p.Val599Phe)
c.1786G>T (p.Val596Phe)
c.1696G>T (p.Val566Phe)
c.1231G>T (p.Val411Phe)
c.400G>T
 gnomAD v4
14g.87939952C>GCA390745500GALCc.1864G>C (p.Val622Leu)
c.1795G>C (p.Val599Leu)
c.1786G>C (p.Val596Leu)
c.1696G>C (p.Val566Leu)
c.1231G>C (p.Val411Leu)
c.400G>C
14g.87939952C>TCA390745502GALCc.1864G>A (p.Val622Ile)
c.1795G>A (p.Val599Ile)
c.1786G>A (p.Val596Ile)
c.1696G>A (p.Val566Ile)
c.1231G>A (p.Val411Ile)
c.400G>A
14g.87939953A>CCA487355309GALCc.1863T>G (p.Arg621=)
c.1794T>G (p.Arg598=)
c.1785T>G (p.Arg595=)
c.1695T>G (p.Arg565=)
c.1230T>G (p.Arg410=)
c.399T>G
14g.87939953A>GCA487355310GALCc.1863T>C (p.Arg621=)
c.1794T>C (p.Arg598=)
c.1785T>C (p.Arg595=)
c.1695T>C (p.Arg565=)
c.1230T>C (p.Arg410=)
c.399T>C
14g.87939953A>TCA487355311GALCc.1863T>A (p.Arg621=)
c.1794T>A (p.Arg598=)
c.1785T>A (p.Arg595=)
c.1695T>A (p.Arg565=)
c.1230T>A (p.Arg410=)
c.399T>A
14g.87939954C>ACA390745503GALCc.1862G>T (p.Arg621Leu)
c.1793G>T (p.Arg598Leu)
c.1784G>T (p.Arg595Leu)
c.1694G>T (p.Arg565Leu)
c.1229G>T (p.Arg410Leu)
c.398G>T
 gnomAD v4
14g.87939954C=CA2153352716GALCc.1862G= (p.Arg621=)
c.1793G= (p.Arg598=)
c.1784G= (p.Arg595=)
c.1694G= (p.Arg565=)
c.1229G= (p.Arg410=)
c.398G=
14g.87939954C>GCA390745504GALCc.1862G>C (p.Arg621Pro)
c.1793G>C (p.Arg598Pro)
c.1784G>C (p.Arg595Pro)
c.1694G>C (p.Arg565Pro)
c.1229G>C (p.Arg410Pro)
c.398G>C
14g.87939954C>TCA7296888GALCc.1862G>A (p.Arg621His)
c.1793G>A (p.Arg598His)
c.1784G>A (p.Arg595His)
c.1694G>A (p.Arg565His)
c.1229G>A (p.Arg410His)
c.398G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.87939955G>ACA7296889GALCc.1861C>T (p.Arg621Cys)
c.1792C>T (p.Arg598Cys)
c.1783C>T (p.Arg595Cys)
c.1693C>T (p.Arg565Cys)
c.1228C>T (p.Arg410Cys)
c.397C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.87939955G>CCA390745505GALCc.1861C>G (p.Arg621Gly)
c.1792C>G (p.Arg598Gly)
c.1783C>G (p.Arg595Gly)
c.1693C>G (p.Arg565Gly)
c.1228C>G (p.Arg410Gly)
c.397C>G
14g.87939955G=CA2153352717GALCc.1861C= (p.Arg621=)
c.1792C= (p.Arg598=)
c.1783C= (p.Arg595=)
c.1693C= (p.Arg565=)
c.1228C= (p.Arg410=)
c.397C=
14g.87939955G>TCA390745506GALCc.1861C>A (p.Arg621Ser)
c.1792C>A (p.Arg598Ser)
c.1783C>A (p.Arg595Ser)
c.1693C>A (p.Arg565Ser)
c.1228C>A (p.Arg410Ser)
c.397C>A
 gnomAD v4
14g.87939956T>ACA487355312GALCc.1860A>T (p.Gly620=)
c.1791A>T (p.Gly597=)
c.1782A>T (p.Gly594=)
c.1692A>T (p.Gly564=)
c.1227A>T (p.Gly409=)
c.396A>T
14g.87939956T>CCA487355313GALCc.1860A>G (p.Gly620=)
c.1791A>G (p.Gly597=)
c.1782A>G (p.Gly594=)
c.1692A>G (p.Gly564=)
c.1227A>G (p.Gly409=)
c.396A>G
 gnomAD v4
14g.87939956T>GCA487355314GALCc.1860A>C (p.Gly620=)
c.1791A>C (p.Gly597=)
c.1782A>C (p.Gly594=)
c.1692A>C (p.Gly564=)
c.1227A>C (p.Gly409=)
c.396A>C
 dbSNP gnomAD v2
14g.87939956T=CA2153352718GALCc.1860A= (p.Gly620=)
c.1791A= (p.Gly597=)
c.1782A= (p.Gly594=)
c.1692A= (p.Gly564=)
c.1227A= (p.Gly409=)
c.396A=
14g.87939957C>ACA390745507GALCc.1859G>T (p.Gly620Val)
c.1790G>T (p.Gly597Val)
c.1781G>T (p.Gly594Val)
c.1691G>T (p.Gly564Val)
c.1226G>T (p.Gly409Val)
c.395G>T
 COSMIC COSMIC
14g.87939957C=CA2153352719GALCc.1859G= (p.Gly620=)
c.1790G= (p.Gly597=)
c.1781G= (p.Gly594=)
c.1691G= (p.Gly564=)
c.1226G= (p.Gly409=)
c.395G=
14g.87939957C>GCA390745508GALCc.1859G>C (p.Gly620Ala)
c.1790G>C (p.Gly597Ala)
c.1781G>C (p.Gly594Ala)
c.1691G>C (p.Gly564Ala)
c.1226G>C (p.Gly409Ala)
c.395G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.87939957C>TCA390745509GALCc.1859G>A (p.Gly620Glu)
c.1790G>A (p.Gly597Glu)
c.1781G>A (p.Gly594Glu)
c.1691G>A (p.Gly564Glu)
c.1226G>A (p.Gly409Glu)
c.395G>A
 gnomAD v4
14g.87939958C>ACA390745510GALCc.1858G>T (p.Gly620Ter)
c.1789G>T (p.Gly597Ter)
c.1780G>T (p.Gly594Ter)
c.1690G>T (p.Gly564Ter)
c.1225G>T (p.Gly409Ter)
c.394G>T
14g.87939958C=CA2153352720GALCc.1858G= (p.Gly620=)
c.1789G= (p.Gly597=)
c.1780G= (p.Gly594=)
c.1690G= (p.Gly564=)
c.1225G= (p.Gly409=)
c.394G=
14g.87939958C>GCA390745511GALCc.1858G>C (p.Gly620Arg)
c.1789G>C (p.Gly597Arg)
c.1780G>C (p.Gly594Arg)
c.1690G>C (p.Gly564Arg)
c.1225G>C (p.Gly409Arg)
c.394G>C
14g.87939958C>TCA7296890GALCc.1858G>A (p.Gly620Arg)
c.1789G>A (p.Gly597Arg)
c.1780G>A (p.Gly594Arg)
c.1690G>A (p.Gly564Arg)
c.1225G>A (p.Gly409Arg)
c.394G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.87939959T>ACA390745512GALCc.1857A>T (p.Leu619Phe)
c.1788A>T (p.Leu596Phe)
c.1779A>T (p.Leu593Phe)
c.1689A>T (p.Leu563Phe)
c.1224A>T (p.Leu408Phe)
c.393A>T
14g.87939959T>CCA487355315GALCc.1857A>G (p.Leu619=)
c.1788A>G (p.Leu596=)
c.1779A>G (p.Leu593=)
c.1689A>G (p.Leu563=)
c.1224A>G (p.Leu408=)
c.393A>G
14g.87939959T>GCA390745513GALCc.1857A>C (p.Leu619Phe)
c.1788A>C (p.Leu596Phe)
c.1779A>C (p.Leu593Phe)
c.1689A>C (p.Leu563Phe)
c.1224A>C (p.Leu408Phe)
c.393A>C
14g.87939960A=CA2153352721GALCc.1856T= (p.Leu619=)
c.1787T= (p.Leu596=)
c.1778T= (p.Leu593=)
c.1688T= (p.Leu563=)
c.1223T= (p.Leu408=)
c.392T=
14g.87939960A>CCA390745514GALCc.1856T>G (p.Leu619Ter)
c.1787T>G (p.Leu596Ter)
c.1778T>G (p.Leu593Ter)
c.1688T>G (p.Leu563Ter)
c.1223T>G (p.Leu408Ter)
c.392T>G
14g.87939960A>GCA7296891GALCc.1856T>C (p.Leu619Ser)
c.1787T>C (p.Leu596Ser)
c.1778T>C (p.Leu593Ser)
c.1688T>C (p.Leu563Ser)
c.1223T>C (p.Leu408Ser)
c.392T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.87939960A>TCA390745515GALCc.1856T>A (p.Leu619Ter)
c.1787T>A (p.Leu596Ter)
c.1778T>A (p.Leu593Ter)
c.1688T>A (p.Leu563Ter)
c.1223T>A (p.Leu408Ter)
c.392T>A
14g.87939962delCA2695219786GALCc.1856del (p.Leu619Ter)
c.1787del (p.Leu596Ter)
c.1778del (p.Leu593Ter)
c.1688del (p.Leu563Ter)
c.1223del (p.Leu408Ter)
c.392del
14g.87939961A>CCA390745516GALCc.1855T>G (p.Leu619Val)
c.1786T>G (p.Leu596Val)
c.1777T>G (p.Leu593Val)
c.1687T>G (p.Leu563Val)
c.1222T>G (p.Leu408Val)
c.391T>G
14g.87939961A>GCA487355316GALCc.1855T>C (p.Leu619=)
c.1786T>C (p.Leu596=)
c.1777T>C (p.Leu593=)
c.1687T>C (p.Leu563=)
c.1222T>C (p.Leu408=)
c.391T>C
14g.87939961A>TCA390745517GALCc.1855T>A (p.Leu619Ile)
c.1786T>A (p.Leu596Ile)
c.1777T>A (p.Leu593Ile)
c.1687T>A (p.Leu563Ile)
c.1222T>A (p.Leu408Ile)
c.391T>A
14g.87939962A>CCA487355317GALCc.1854T>G (p.Ala618=)
c.1785T>G (p.Ala595=)
c.1776T>G (p.Ala592=)
c.1686T>G (p.Ala562=)
c.1221T>G (p.Ala407=)
c.390T>G
14g.87939962A>GCA487355318GALCc.1854T>C (p.Ala618=)
c.1785T>C (p.Ala595=)
c.1776T>C (p.Ala592=)
c.1686T>C (p.Ala562=)
c.1221T>C (p.Ala407=)
c.390T>C
14g.87939962A>TCA487355319GALCc.1854T>A (p.Ala618=)
c.1785T>A (p.Ala595=)
c.1776T>A (p.Ala592=)
c.1686T>A (p.Ala562=)
c.1221T>A (p.Ala407=)
c.390T>A
14g.87939963delCA2573150288GALCc.1853del (p.Ala618ValfsTer2)
c.1784del (p.Ala595ValfsTer2)
c.1775del (p.Ala592ValfsTer2)
c.1685del (p.Ala562ValfsTer2)
c.1220del (p.Ala407ValfsTer2)
c.389del
 ClinVar dbSNP
14g.87939963G>ACA390745518GALCc.1853C>T (p.Ala618Val)
c.1784C>T (p.Ala595Val)
c.1775C>T (p.Ala592Val)
c.1685C>T (p.Ala562Val)
c.1220C>T (p.Ala407Val)
c.389C>T
 dbSNP gnomAD v2 gnomAD v4
14g.87939963G>CCA390745519GALCc.1853C>G (p.Ala618Gly)
c.1784C>G (p.Ala595Gly)
c.1775C>G (p.Ala592Gly)
c.1685C>G (p.Ala562Gly)
c.1220C>G (p.Ala407Gly)
c.389C>G
14g.87939963G=CA2153352722GALCc.1853C= (p.Ala618=)
c.1784C= (p.Ala595=)
c.1775C= (p.Ala592=)
c.1685C= (p.Ala562=)
c.1220C= (p.Ala407=)
c.389C=
14g.87939963G>TCA390745520GALCc.1853C>A (p.Ala618Asp)
c.1784C>A (p.Ala595Asp)
c.1775C>A (p.Ala592Asp)
c.1685C>A (p.Ala562Asp)
c.1220C>A (p.Ala407Asp)
c.389C>A
14g.87939964C>ACA390745521GALCc.1852G>T (p.Ala618Ser)
c.1783G>T (p.Ala595Ser)
c.1774G>T (p.Ala592Ser)
c.1684G>T (p.Ala562Ser)
c.1219G>T (p.Ala407Ser)
c.388G>T
14g.87939964C>GCA390745522GALCc.1852G>C (p.Ala618Pro)
c.1783G>C (p.Ala595Pro)
c.1774G>C (p.Ala592Pro)
c.1684G>C (p.Ala562Pro)
c.1219G>C (p.Ala407Pro)
c.388G>C
14g.87939964C>TCA390745523GALCc.1852G>A (p.Ala618Thr)
c.1783G>A (p.Ala595Thr)
c.1774G>A (p.Ala592Thr)
c.1684G>A (p.Ala562Thr)
c.1219G>A (p.Ala407Thr)
c.388G>A
 COSMIC COSMIC
14g.87939964_87939965delinsCACA2153352723GALCc.1851_1852delinsTG (p.Tyr617=)
c.1782_1783delinsTG (p.Tyr594=)
c.1773_1774delinsTG (p.Tyr591=)
c.1683_1684delinsTG (p.Tyr561=)
c.1218_1219delinsTG (p.Tyr406=)
c.387_388delinsTG
14g.87939965delCA16041691GALCc.1851del (p.Tyr617Ter)
c.1782del (p.Tyr594Ter)
c.1773del (p.Tyr591Ter)
c.1683del (p.Tyr561Ter)
c.1218del (p.Tyr406Ter)
c.387del
 ClinVar dbSNP gnomAD v4
14g.87939965A>CCA390745524GALCc.1851T>G (p.Tyr617Ter)
c.1782T>G (p.Tyr594Ter)
c.1773T>G (p.Tyr591Ter)
c.1683T>G (p.Tyr561Ter)
c.1218T>G (p.Tyr406Ter)
c.387T>G
14g.87939965A>GCA487355320GALCc.1851T>C (p.Tyr617=)
c.1782T>C (p.Tyr594=)
c.1773T>C (p.Tyr591=)
c.1683T>C (p.Tyr561=)
c.1218T>C (p.Tyr406=)
c.387T>C
14g.87939965A>TCA390745525GALCc.1851T>A (p.Tyr617Ter)
c.1782T>A (p.Tyr594Ter)
c.1773T>A (p.Tyr591Ter)
c.1683T>A (p.Tyr561Ter)
c.1218T>A (p.Tyr406Ter)
c.387T>A
14g.87939966T>ACA390745526GALCc.1850A>T (p.Tyr617Phe)
c.1781A>T (p.Tyr594Phe)
c.1772A>T (p.Tyr591Phe)
c.1682A>T (p.Tyr561Phe)
c.1217A>T (p.Tyr406Phe)
c.386A>T
14g.87939966T>CCA390745527GALCc.1850A>G (p.Tyr617Cys)
c.1781A>G (p.Tyr594Cys)
c.1772A>G (p.Tyr591Cys)
c.1682A>G (p.Tyr561Cys)
c.1217A>G (p.Tyr406Cys)
c.386A>G
 gnomAD v3 gnomAD v4
14g.87939966T>GCA390745528GALCc.1850A>C (p.Tyr617Ser)
c.1781A>C (p.Tyr594Ser)
c.1772A>C (p.Tyr591Ser)
c.1682A>C (p.Tyr561Ser)
c.1217A>C (p.Tyr406Ser)
c.386A>C
 gnomAD v4
14g.87939967A>CCA390745529GALCc.1849T>G (p.Tyr617Asp)
c.1780T>G (p.Tyr594Asp)
c.1771T>G (p.Tyr591Asp)
c.1681T>G (p.Tyr561Asp)
c.1216T>G (p.Tyr406Asp)
c.385T>G
14g.87939967A>GCA390745531GALCc.1849T>C (p.Tyr617His)
c.1780T>C (p.Tyr594His)
c.1771T>C (p.Tyr591His)
c.1681T>C (p.Tyr561His)
c.1216T>C (p.Tyr406His)
c.385T>C
14g.87939967A>TCA390745530GALCc.1849T>A (p.Tyr617Asn)
c.1780T>A (p.Tyr594Asn)
c.1771T>A (p.Tyr591Asn)
c.1681T>A (p.Tyr561Asn)
c.1216T>A (p.Tyr406Asn)
c.385T>A
14g.87939968T>ACA487355321GALCc.1848A>T (p.Ile616=)
c.1779A>T (p.Ile593=)
c.1770A>T (p.Ile590=)
c.1680A>T (p.Ile560=)
c.1215A>T (p.Ile405=)
c.384A>T
14g.87939968T>CCA390745532GALCc.1848A>G (p.Ile616Met)
c.1779A>G (p.Ile593Met)
c.1770A>G (p.Ile590Met)
c.1680A>G (p.Ile560Met)
c.1215A>G (p.Ile405Met)
c.384A>G
14g.87939968T>GCA487355322GALCc.1848A>C (p.Ile616=)
c.1779A>C (p.Ile593=)
c.1770A>C (p.Ile590=)
c.1680A>C (p.Ile560=)
c.1215A>C (p.Ile405=)
c.384A>C
14g.87939969A>CCA390745533GALCc.1847T>G (p.Ile616Arg)
c.1778T>G (p.Ile593Arg)
c.1769T>G (p.Ile590Arg)
c.1679T>G (p.Ile560Arg)
c.1214T>G (p.Ile405Arg)
c.383T>G
 gnomAD v4
14g.87939969A>GCA390745534GALCc.1847T>C (p.Ile616Thr)
c.1778T>C (p.Ile593Thr)
c.1769T>C (p.Ile590Thr)
c.1679T>C (p.Ile560Thr)
c.1214T>C (p.Ile405Thr)
c.383T>C
14g.87939969A>TCA390745535GALCc.1847T>A (p.Ile616Lys)
c.1778T>A (p.Ile593Lys)
c.1769T>A (p.Ile590Lys)
c.1679T>A (p.Ile560Lys)
c.1214T>A (p.Ile405Lys)
c.383T>A
14g.87939970T>ACA390745536GALCc.1846A>T (p.Ile616Leu)
c.1777A>T (p.Ile593Leu)
c.1768A>T (p.Ile590Leu)
c.1678A>T (p.Ile560Leu)
c.1213A>T (p.Ile405Leu)
c.382A>T
 gnomAD v4
14g.87939970T>CCA390745537GALCc.1846A>G (p.Ile616Val)
c.1777A>G (p.Ile593Val)
c.1768A>G (p.Ile590Val)
c.1678A>G (p.Ile560Val)
c.1213A>G (p.Ile405Val)
c.382A>G
14g.87939970T>GCA390745538GALCc.1846A>C (p.Ile616Leu)
c.1777A>C (p.Ile593Leu)
c.1768A>C (p.Ile590Leu)
c.1678A>C (p.Ile560Leu)
c.1213A>C (p.Ile405Leu)
c.382A>C
14g.87939971A>CCA390745539GALCc.1845T>G (p.Ile615Met)
c.1776T>G (p.Ile592Met)
c.1767T>G (p.Ile589Met)
c.1677T>G (p.Ile559Met)
c.1212T>G (p.Ile404Met)
c.381T>G
14g.87939971A>GCA487355323GALCc.1845T>C (p.Ile615=)
c.1776T>C (p.Ile592=)
c.1767T>C (p.Ile589=)
c.1677T>C (p.Ile559=)
c.1212T>C (p.Ile404=)
c.381T>C
14g.87939971A>TCA487355324GALCc.1845T>A (p.Ile615=)
c.1776T>A (p.Ile592=)
c.1767T>A (p.Ile589=)
c.1677T>A (p.Ile559=)
c.1212T>A (p.Ile404=)
c.381T>A
 ClinVar dbSNP
14g.87939972A>CCA390745540GALCc.1844T>G (p.Ile615Ser)
c.1775T>G (p.Ile592Ser)
c.1766T>G (p.Ile589Ser)
c.1676T>G (p.Ile559Ser)
c.1211T>G (p.Ile404Ser)
c.380T>G
14g.87939972A>GCA390745541GALCc.1844T>C (p.Ile615Thr)
c.1775T>C (p.Ile592Thr)
c.1766T>C (p.Ile589Thr)
c.1676T>C (p.Ile559Thr)
c.1211T>C (p.Ile404Thr)
c.380T>C
14g.87939972A>TCA390745542GALCc.1844T>A (p.Ile615Asn)
c.1775T>A (p.Ile592Asn)
c.1766T>A (p.Ile589Asn)
c.1676T>A (p.Ile559Asn)
c.1211T>A (p.Ile404Asn)
c.380T>A
14g.87939973T>ACA390745545GALCc.1843A>T (p.Ile615Phe)
c.1774A>T (p.Ile592Phe)
c.1765A>T (p.Ile589Phe)
c.1675A>T (p.Ile559Phe)
c.1210A>T (p.Ile404Phe)
c.379A>T
14g.87939973T>CCA390745544GALCc.1843A>G (p.Ile615Val)
c.1774A>G (p.Ile592Val)
c.1765A>G (p.Ile589Val)
c.1675A>G (p.Ile559Val)
c.1210A>G (p.Ile404Val)
c.379A>G
14g.87939973T>GCA390745543GALCc.1843A>C (p.Ile615Leu)
c.1774A>C (p.Ile592Leu)
c.1765A>C (p.Ile589Leu)
c.1675A>C (p.Ile559Leu)
c.1210A>C (p.Ile404Leu)
c.379A>C
14g.87939974C>ACA390745546GALCc.1842G>T (p.Trp614Cys)
c.1773G>T (p.Trp591Cys)
c.1764G>T (p.Trp588Cys)
c.1674G>T (p.Trp558Cys)
c.1209G>T (p.Trp403Cys)
c.378G>T
 dbSNP gnomAD v4
14g.87939974C=CA2153352724GALCc.1842G= (p.Trp614=)
c.1773G= (p.Trp591=)
c.1764G= (p.Trp588=)
c.1674G= (p.Trp558=)
c.1209G= (p.Trp403=)
c.378G=
14g.87939974C>GCA390745547GALCc.1842G>C (p.Trp614Cys)
c.1773G>C (p.Trp591Cys)
c.1764G>C (p.Trp588Cys)
c.1674G>C (p.Trp558Cys)
c.1209G>C (p.Trp403Cys)
c.378G>C
14g.87939974C>TCA390745548GALCc.1842G>A (p.Trp614Ter)
c.1773G>A (p.Trp591Ter)
c.1764G>A (p.Trp588Ter)
c.1674G>A (p.Trp558Ter)
c.1209G>A (p.Trp403Ter)
c.378G>A
 ClinVar dbSNP
14g.87939975C>ACA390745549GALCc.1841G>T (p.Trp614Leu)
c.1772G>T (p.Trp591Leu)
c.1763G>T (p.Trp588Leu)
c.1673G>T (p.Trp558Leu)
c.1208G>T (p.Trp403Leu)
c.377G>T
14g.87939975C>GCA390745550GALCc.1841G>C (p.Trp614Ser)
c.1772G>C (p.Trp591Ser)
c.1763G>C (p.Trp588Ser)
c.1673G>C (p.Trp558Ser)
c.1208G>C (p.Trp403Ser)
c.377G>C
14g.87939975C>TCA390745551GALCc.1841G>A (p.Trp614Ter)
c.1772G>A (p.Trp591Ter)
c.1763G>A (p.Trp588Ter)
c.1673G>A (p.Trp558Ter)
c.1208G>A (p.Trp403Ter)
c.377G>A
14g.87939976A>CCA390745552GALCc.1840T>G (p.Trp614Gly)
c.1771T>G (p.Trp591Gly)
c.1762T>G (p.Trp588Gly)
c.1672T>G (p.Trp558Gly)
c.1207T>G (p.Trp403Gly)
c.376T>G
14g.87939976A>GCA390745553GALCc.1840T>C (p.Trp614Arg)
c.1771T>C (p.Trp591Arg)
c.1762T>C (p.Trp588Arg)
c.1672T>C (p.Trp558Arg)
c.1207T>C (p.Trp403Arg)
c.376T>C
14g.87939976A>TCA390745554GALCc.1840T>A (p.Trp614Arg)
c.1771T>A (p.Trp591Arg)
c.1762T>A (p.Trp588Arg)
c.1672T>A (p.Trp558Arg)
c.1207T>A (p.Trp403Arg)
c.376T>A
14g.87939977T>ACA487355325GALCc.1839A>T (p.Gly613=)
c.1770A>T (p.Gly590=)
c.1761A>T (p.Gly587=)
c.1671A>T (p.Gly557=)
c.1206A>T (p.Gly402=)
c.375A>T
 ClinVar gnomAD v4
14g.87939977T>CCA487355327GALCc.1839A>G (p.Gly613=)
c.1770A>G (p.Gly590=)
c.1761A>G (p.Gly587=)
c.1671A>G (p.Gly557=)
c.1206A>G (p.Gly402=)
c.375A>G
14g.87939977T>GCA487355326GALCc.1839A>C (p.Gly613=)
c.1770A>C (p.Gly590=)
c.1761A>C (p.Gly587=)
c.1671A>C (p.Gly557=)
c.1206A>C (p.Gly402=)
c.375A>C
14g.87939978C>ACA390745555GALCc.1838G>T (p.Gly613Val)
c.1769G>T (p.Gly590Val)
c.1760G>T (p.Gly587Val)
c.1670G>T (p.Gly557Val)
c.1205G>T (p.Gly402Val)
c.374G>T
14g.87939978C=CA2153352725GALCc.1838G= (p.Gly613=)
c.1769G= (p.Gly590=)
c.1760G= (p.Gly587=)
c.1670G= (p.Gly557=)
c.1205G= (p.Gly402=)
c.374G=
14g.87939978C>GCA390745556GALCc.1838G>C (p.Gly613Ala)
c.1769G>C (p.Gly590Ala)
c.1760G>C (p.Gly587Ala)
c.1670G>C (p.Gly557Ala)
c.1205G>C (p.Gly402Ala)
c.374G>C
14g.87939978C>TCA390745557GALCc.1838G>A (p.Gly613Glu)
c.1769G>A (p.Gly590Glu)
c.1760G>A (p.Gly587Glu)
c.1670G>A (p.Gly557Glu)
c.1205G>A (p.Gly402Glu)
c.374G>A
 dbSNP gnomAD v2 gnomAD v4
14g.87939979C>ACA16041692GALCc.1837G>T (p.Gly613Ter)
c.1768G>T (p.Gly590Ter)
c.1759G>T (p.Gly587Ter)
c.1669G>T (p.Gly557Ter)
c.1204G>T (p.Gly402Ter)
c.373G>T
 ClinVar dbSNP gnomAD v4
14g.87939979C=CA2153352726GALCc.1837G= (p.Gly613=)
c.1768G= (p.Gly590=)
c.1759G= (p.Gly587=)
c.1669G= (p.Gly557=)
c.1204G= (p.Gly402=)
c.373G=
14g.87939979C>GCA390745559GALCc.1837G>C (p.Gly613Arg)
c.1768G>C (p.Gly590Arg)
c.1759G>C (p.Gly587Arg)
c.1669G>C (p.Gly557Arg)
c.1204G>C (p.Gly402Arg)
c.373G>C
14g.87939979C>TCA390745558GALCc.1837G>A (p.Gly613Arg)
c.1768G>A (p.Gly590Arg)
c.1759G>A (p.Gly587Arg)
c.1669G>A (p.Gly557Arg)
c.1204G>A (p.Gly402Arg)
c.373G>A
 gnomAD v4
14g.87939980A>CCA487355329GALCc.1836T>G (p.Ala612=)
c.1767T>G (p.Ala589=)
c.1758T>G (p.Ala586=)
c.1668T>G (p.Ala556=)
c.1203T>G (p.Ala401=)
c.372T>G
14g.87939980A>GCA487355330GALCc.1836T>C (p.Ala612=)
c.1767T>C (p.Ala589=)
c.1758T>C (p.Ala586=)
c.1668T>C (p.Ala556=)
c.1203T>C (p.Ala401=)
c.372T>C
14g.87939980A>TCA487355331GALCc.1836T>A (p.Ala612=)
c.1767T>A (p.Ala589=)
c.1758T>A (p.Ala586=)
c.1668T>A (p.Ala556=)
c.1203T>A (p.Ala401=)
c.372T>A
14g.87939980dupCA2573105871GALCc.1836dup (p.Gly613TrpfsTer11)
c.1767dup (p.Gly590TrpfsTer11)
c.1758dup (p.Gly587TrpfsTer11)
c.1668dup (p.Gly557TrpfsTer11)
c.1203dup (p.Gly402TrpfsTer11)
c.372dup
14g.87939981G>ACA390745562GALCc.1835C>T (p.Ala612Val)
c.1766C>T (p.Ala589Val)
c.1757C>T (p.Ala586Val)
c.1667C>T (p.Ala556Val)
c.1202C>T (p.Ala401Val)
c.371C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.87939981G>CCA390745560GALCc.1835C>G (p.Ala612Gly)
c.1766C>G (p.Ala589Gly)
c.1757C>G (p.Ala586Gly)
c.1667C>G (p.Ala556Gly)
c.1202C>G (p.Ala401Gly)
c.371C>G
14g.87939981G=CA2153352727GALCc.1835C= (p.Ala612=)
c.1766C= (p.Ala589=)
c.1757C= (p.Ala586=)
c.1667C= (p.Ala556=)
c.1202C= (p.Ala401=)
c.371C=
14g.87939981G>TCA390745561GALCc.1835C>A (p.Ala612Asp)
c.1766C>A (p.Ala589Asp)
c.1757C>A (p.Ala586Asp)
c.1667C>A (p.Ala556Asp)
c.1202C>A (p.Ala401Asp)
c.371C>A
 gnomAD v4
14g.87939982C>ACA390745563GALCc.1835-1G>T (n.1835-1G>T)
c.1766-1G>T (n.1766-1G>T)
c.1757-1G>T (n.1757-1G>T)
c.1667-1G>T (n.1667-1G>T)
c.1202-1G>T (n.1202-1G>T)
c.371-1G>T
14g.87939982C=CA2153352728GALCc.1835-1G= (n.1835-1G=)
c.1766-1G= (n.1766-1G=)
c.1757-1G= (n.1757-1G=)
c.1667-1G= (n.1667-1G=)
c.1202-1G= (n.1202-1G=)
c.371-1G=
14g.87939982C>GCA390745564GALCc.1835-1G>C (n.1835-1G>C)
c.1766-1G>C (n.1766-1G>C)
c.1757-1G>C (n.1757-1G>C)
c.1667-1G>C (n.1667-1G>C)
c.1202-1G>C (n.1202-1G>C)
c.371-1G>C
14g.87939982C>TCA390745565GALCc.1835-1G>A (n.1835-1G>A)
c.1766-1G>A (n.1766-1G>A)
c.1757-1G>A (n.1757-1G>A)
c.1667-1G>A (n.1667-1G>A)
c.1202-1G>A (n.1202-1G>A)
c.371-1G>A
 ClinVar dbSNP
14g.87939983T>ACA390745566GALCc.1835-2A>T (n.1835-2A>T)
c.1766-2A>T (n.1766-2A>T)
c.1757-2A>T (n.1757-2A>T)
c.1667-2A>T (n.1667-2A>T)
c.1202-2A>T (n.1202-2A>T)
c.371-2A>T
14g.87939983T>CCA390745567GALCc.1835-2A>G (n.1835-2A>G)
c.1766-2A>G (n.1766-2A>G)
c.1757-2A>G (n.1757-2A>G)
c.1667-2A>G (n.1667-2A>G)
c.1202-2A>G (n.1202-2A>G)
c.371-2A>G
14g.87939983T>GCA390745568GALCc.1835-2A>C (n.1835-2A>C)
c.1766-2A>C (n.1766-2A>C)
c.1757-2A>C (n.1757-2A>C)
c.1667-2A>C (n.1667-2A>C)
c.1202-2A>C (n.1202-2A>C)
c.371-2A>C
14g.87939984G>ACA2625978560GALCc.1835-3C>T (n.1835-3C>T)
c.1766-3C>T (n.1766-3C>T)
c.1757-3C>T (n.1757-3C>T)
c.1667-3C>T (n.1667-3C>T)
c.1202-3C>T (n.1202-3C>T)
c.371-3C>T
 gnomAD v4
14g.87939984G>TCA2625978561GALCc.1835-3C>A (n.1835-3C>A)
c.1766-3C>A (n.1766-3C>A)
c.1757-3C>A (n.1757-3C>A)
c.1667-3C>A (n.1667-3C>A)
c.1202-3C>A (n.1202-3C>A)
c.371-3C>A
 gnomAD v4
14g.87939985T>CCA2739279784GALCc.1835-4A>G (n.1835-4A>G)
c.1766-4A>G (n.1766-4A>G)
c.1757-4A>G (n.1757-4A>G)
c.1667-4A>G (n.1667-4A>G)
c.1202-4A>G (n.1202-4A>G)
c.371-4A>G
 ClinVar
14g.87939985T>GCA2625978562GALCc.1835-4A>C (n.1835-4A>C)
c.1766-4A>C (n.1766-4A>C)
c.1757-4A>C (n.1757-4A>C)
c.1667-4A>C (n.1667-4A>C)
c.1202-4A>C (n.1202-4A>C)
c.371-4A>C
 gnomAD v4
14g.87939987delCA2625978563GALCc.1835-5del (n.1835-5del)
c.1766-5del (n.1766-5del)
c.1757-5del (n.1757-5del)
c.1667-5del (n.1667-5del)
c.1202-5del (n.1202-5del)
c.371-5del
 gnomAD v4
14g.87939987A=CA2153352729GALCc.1835-6T= (n.1835-6T=)
c.1766-6T= (n.1766-6T=)
c.1757-6T= (n.1757-6T=)
c.1667-6T= (n.1667-6T=)
c.1202-6T= (n.1202-6T=)
c.371-6T=
14g.87939987A>GCA709646588GALCc.1835-6T>C (n.1835-6T>C)
c.1766-6T>C (n.1766-6T>C)
c.1757-6T>C (n.1757-6T>C)
c.1667-6T>C (n.1667-6T>C)
c.1202-6T>C (n.1202-6T>C)
c.371-6T>C
 dbSNP gnomAD v3 gnomAD v4
14g.87939989A>GCA645581077GALCc.1835-8T>C (n.1835-8T>C)
c.1766-8T>C (n.1766-8T>C)
c.1757-8T>C (n.1757-8T>C)
c.1667-8T>C (n.1667-8T>C)
c.1202-8T>C (n.1202-8T>C)
c.371-8T>C
 COSMIC COSMIC
14g.87939990C=CA2153352730GALCc.1835-9G= (n.1835-9G=)
c.1766-9G= (n.1766-9G=)
c.1757-9G= (n.1757-9G=)
c.1667-9G= (n.1667-9G=)
c.1202-9G= (n.1202-9G=)
c.371-9G=
14g.87939990C>GCA2153352731GALCc.1835-9G>C (n.1835-9G>C)
c.1766-9G>C (n.1766-9G>C)
c.1757-9G>C (n.1757-9G>C)
c.1667-9G>C (n.1667-9G>C)
c.1202-9G>C (n.1202-9G>C)
c.371-9G>C
 ClinVar dbSNP gnomAD v4
14g.87939995delCA2625978564GALCc.1835-10del (n.1835-10del)
c.1766-10del (n.1766-10del)
c.1757-10del (n.1757-10del)
c.1667-10del (n.1667-10del)
c.1202-10del (n.1202-10del)
c.371-10del
 gnomAD v4
14g.87939991_87939996delinsAAAAATCA2153352732GALCc.1835-15_1835-10delinsATTTTT (n.1835-15_1835-10delinsATTTTT)
c.1766-15_1766-10delinsATTTTT (n.1766-15_1766-10delinsATTTTT)
c.1757-15_1757-10delinsATTTTT (n.1757-15_1757-10delinsATTTTT)
c.1667-15_1667-10delinsATTTTT (n.1667-15_1667-10delinsATTTTT)
c.1202-15_1202-10delinsATTTTT (n.1202-15_1202-10delinsATTTTT)
c.371-15_371-10delinsATTTTT
14g.87939993_87939997delCA615270126GALCc.1835-15_1835-11del (n.1835-15_1835-11del)
c.1766-15_1766-11del (n.1766-15_1766-11del)
c.1757-15_1757-11del (n.1757-15_1757-11del)
c.1667-15_1667-11del (n.1667-15_1667-11del)
c.1202-15_1202-11del (n.1202-15_1202-11del)
c.371-15_371-11del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.87939994A>CCA2625978565GALCc.1835-13T>G (n.1835-13T>G)
c.1766-13T>G (n.1766-13T>G)
c.1757-13T>G (n.1757-13T>G)
c.1667-13T>G (n.1667-13T>G)
c.1202-13T>G (n.1202-13T>G)
c.371-13T>G
 gnomAD v4
14g.87939995A>GCA2625978566GALCc.1835-14T>C (n.1835-14T>C)
c.1766-14T>C (n.1766-14T>C)
c.1757-14T>C (n.1757-14T>C)
c.1667-14T>C (n.1667-14T>C)
c.1202-14T>C (n.1202-14T>C)
c.371-14T>C
 ClinVar gnomAD v4
14g.87939996T>CCA2739279785GALCc.1835-15A>G (n.1835-15A>G)
c.1766-15A>G (n.1766-15A>G)
c.1757-15A>G (n.1757-15A>G)
c.1667-15A>G (n.1667-15A>G)
c.1202-15A>G (n.1202-15A>G)
c.371-15A>G
 ClinVar
14g.87939996T>GCA2518721751GALCc.1835-15A>C (n.1835-15A>C)
c.1766-15A>C (n.1766-15A>C)
c.1757-15A>C (n.1757-15A>C)
c.1667-15A>C (n.1667-15A>C)
c.1202-15A>C (n.1202-15A>C)
c.371-15A>C
14g.87939998T>CCA2625978567GALCc.1835-17A>G (n.1835-17A>G)
c.1766-17A>G (n.1766-17A>G)
c.1757-17A>G (n.1757-17A>G)
c.1667-17A>G (n.1667-17A>G)
c.1202-17A>G (n.1202-17A>G)
c.371-17A>G
 gnomAD v4
14g.87939998T>GCA2697554079GALCc.1835-17A>C (n.1835-17A>C)
c.1766-17A>C (n.1766-17A>C)
c.1757-17A>C (n.1757-17A>C)
c.1667-17A>C (n.1667-17A>C)
c.1202-17A>C (n.1202-17A>C)
c.371-17A>C
 ClinVar
14g.87939999T>ACA264678612GALCc.1835-18A>T (n.1835-18A>T)
c.1766-18A>T (n.1766-18A>T)
c.1757-18A>T (n.1757-18A>T)
c.1667-18A>T (n.1667-18A>T)
c.1202-18A>T (n.1202-18A>T)
c.371-18A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.87939999T=CA2153352733GALCc.1835-18A= (n.1835-18A=)
c.1766-18A= (n.1766-18A=)
c.1757-18A= (n.1757-18A=)
c.1667-18A= (n.1667-18A=)
c.1202-18A= (n.1202-18A=)
c.371-18A=
14g.87940001T>ACA7296892GALCc.1835-20A>T (n.1835-20A>T)
c.1766-20A>T (n.1766-20A>T)
c.1757-20A>T (n.1757-20A>T)
c.1667-20A>T (n.1667-20A>T)
c.1202-20A>T (n.1202-20A>T)
c.371-20A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.87940001T>CCA709646604GALCc.1835-20A>G (n.1835-20A>G)
c.1766-20A>G (n.1766-20A>G)
c.1757-20A>G (n.1757-20A>G)
c.1667-20A>G (n.1667-20A>G)
c.1202-20A>G (n.1202-20A>G)
c.371-20A>G
 ClinVar dbSNP gnomAD v4
14g.87940001T=CA2153352734GALCc.1835-20A= (n.1835-20A=)
c.1766-20A= (n.1766-20A=)
c.1757-20A= (n.1757-20A=)
c.1667-20A= (n.1667-20A=)
c.1202-20A= (n.1202-20A=)
c.371-20A=
14g.87940002C>ACA2625978568GALCc.1835-21G>T (n.1835-21G>T)
c.1766-21G>T (n.1766-21G>T)
c.1757-21G>T (n.1757-21G>T)
c.1667-21G>T (n.1667-21G>T)
c.1202-21G>T (n.1202-21G>T)
c.371-21G>T
 gnomAD v4
14g.87940003C>ACA264678636GALCc.1835-22G>T (n.1835-22G>T)
c.1766-22G>T (n.1766-22G>T)
c.1757-22G>T (n.1757-22G>T)
c.1667-22G>T (n.1667-22G>T)
c.1202-22G>T (n.1202-22G>T)
c.371-22G>T
 dbSNP gnomAD v3 gnomAD v4
14g.87940003C=CA2153352735GALCc.1835-22G= (n.1835-22G=)
c.1766-22G= (n.1766-22G=)
c.1757-22G= (n.1757-22G=)
c.1667-22G= (n.1667-22G=)
c.1202-22G= (n.1202-22G=)
c.371-22G=
14g.87940003C>TCA7296893GALCc.1835-22G>A (n.1835-22G>A)
c.1766-22G>A (n.1766-22G>A)
c.1757-22G>A (n.1757-22G>A)
c.1667-22G>A (n.1667-22G>A)
c.1202-22G>A (n.1202-22G>A)
c.371-22G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched