Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.87939883G>C | CA2153352669 | GALC | c.1911+22C>G (n.1911+22C>G) c.1842+22C>G (n.1842+22C>G) c.1833+22C>G (n.1833+22C>G) c.1743+22C>G (n.1743+22C>G) c.1278+22C>G (n.1278+22C>G) c.447+22C>G | dbSNP |
14 | g.87939883G= | CA2153352668 | GALC | c.1911+22C= (n.1911+22C=) c.1842+22C= (n.1842+22C=) c.1833+22C= (n.1833+22C=) c.1743+22C= (n.1743+22C=) c.1278+22C= (n.1278+22C=) c.447+22C= | |
14 | g.87939883G>T | CA2625978554 | GALC | c.1911+22C>A (n.1911+22C>A) c.1842+22C>A (n.1842+22C>A) c.1833+22C>A (n.1833+22C>A) c.1743+22C>A (n.1743+22C>A) c.1278+22C>A (n.1278+22C>A) c.447+22C>A | gnomAD v4 |
14 | g.87939884A= | CA2153352670 | GALC | c.1911+21T= (n.1911+21T=) c.1842+21T= (n.1842+21T=) c.1833+21T= (n.1833+21T=) c.1743+21T= (n.1743+21T=) c.1278+21T= (n.1278+21T=) c.447+21T= | |
14 | g.87939884A>G | CA2548944690 | GALC | c.1911+21T>C (n.1911+21T>C) c.1842+21T>C (n.1842+21T>C) c.1833+21T>C (n.1833+21T>C) c.1743+21T>C (n.1743+21T>C) c.1278+21T>C (n.1278+21T>C) c.447+21T>C | gnomAD v4 |
14 | g.87939884A>T | CA2153352671 | GALC | c.1911+21T>A (n.1911+21T>A) c.1842+21T>A (n.1842+21T>A) c.1833+21T>A (n.1833+21T>A) c.1743+21T>A (n.1743+21T>A) c.1278+21T>A (n.1278+21T>A) c.447+21T>A | dbSNP gnomAD v4 |
14 | g.87939884_87939890del | CA2802491927 | GALC | c.1911+15_1911+21del (n.1911+15_1911+21del) c.1842+15_1842+21del (n.1842+15_1842+21del) c.1833+15_1833+21del (n.1833+15_1833+21del) c.1743+15_1743+21del (n.1743+15_1743+21del) c.1278+15_1278+21del (n.1278+15_1278+21del) c.447+15_447+21del | |
14 | g.87939885C>A | CA2740097180 | GALC | c.1911+20G>T (n.1911+20G>T) c.1842+20G>T (n.1842+20G>T) c.1833+20G>T (n.1833+20G>T) c.1743+20G>T (n.1743+20G>T) c.1278+20G>T (n.1278+20G>T) c.447+20G>T | ClinVar |
14 | g.87939885C= | CA2153352672 | GALC | c.1911+20G= (n.1911+20G=) c.1842+20G= (n.1842+20G=) c.1833+20G= (n.1833+20G=) c.1743+20G= (n.1743+20G=) c.1278+20G= (n.1278+20G=) c.447+20G= | |
14 | g.87939885C>T | CA264678509 | GALC | c.1911+20G>A (n.1911+20G>A) c.1842+20G>A (n.1842+20G>A) c.1833+20G>A (n.1833+20G>A) c.1743+20G>A (n.1743+20G>A) c.1278+20G>A (n.1278+20G>A) c.447+20G>A | ClinVar dbSNP gnomAD v4 |
14 | g.87939886del | CA2802491928 | GALC | c.1911+19del (n.1911+19del) c.1842+19del (n.1842+19del) c.1833+19del (n.1833+19del) c.1743+19del (n.1743+19del) c.1278+19del (n.1278+19del) c.447+19del | |
14 | g.87939886T>C | CA2625978555 | GALC | c.1911+19A>G (n.1911+19A>G) c.1842+19A>G (n.1842+19A>G) c.1833+19A>G (n.1833+19A>G) c.1743+19A>G (n.1743+19A>G) c.1278+19A>G (n.1278+19A>G) c.447+19A>G | gnomAD v4 |
14 | g.87939886T>G | CA615270091 | GALC | c.1911+19A>C (n.1911+19A>C) c.1842+19A>C (n.1842+19A>C) c.1833+19A>C (n.1833+19A>C) c.1743+19A>C (n.1743+19A>C) c.1278+19A>C (n.1278+19A>C) c.447+19A>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.87939886T= | CA2153352673 | GALC | c.1911+19A= (n.1911+19A=) c.1842+19A= (n.1842+19A=) c.1833+19A= (n.1833+19A=) c.1743+19A= (n.1743+19A=) c.1278+19A= (n.1278+19A=) c.447+19A= | |
14 | g.87939888C>T | CA2625978556 | GALC | c.1911+17G>A (n.1911+17G>A) c.1842+17G>A (n.1842+17G>A) c.1833+17G>A (n.1833+17G>A) c.1743+17G>A (n.1743+17G>A) c.1278+17G>A (n.1278+17G>A) c.447+17G>A | gnomAD v4 |
14 | g.87939889A= | CA2153352674 | GALC | c.1911+16T= (n.1911+16T=) c.1842+16T= (n.1842+16T=) c.1833+16T= (n.1833+16T=) c.1743+16T= (n.1743+16T=) c.1278+16T= (n.1278+16T=) c.447+16T= | |
14 | g.87939889A>C | CA7296869 | GALC | c.1911+16T>G (n.1911+16T>G) c.1842+16T>G (n.1842+16T>G) c.1833+16T>G (n.1833+16T>G) c.1743+16T>G (n.1743+16T>G) c.1278+16T>G (n.1278+16T>G) c.447+16T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87939891T>C | CA7296870 | GALC | c.1911+14A>G (n.1911+14A>G) c.1842+14A>G (n.1842+14A>G) c.1833+14A>G (n.1833+14A>G) c.1743+14A>G (n.1743+14A>G) c.1278+14A>G (n.1278+14A>G) c.447+14A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87939891T= | CA2153352675 | GALC | c.1911+14A= (n.1911+14A=) c.1842+14A= (n.1842+14A=) c.1833+14A= (n.1833+14A=) c.1743+14A= (n.1743+14A=) c.1278+14A= (n.1278+14A=) c.447+14A= | |
14 | g.87939892C= | CA2153352676 | GALC | c.1911+13G= (n.1911+13G=) c.1842+13G= (n.1842+13G=) c.1833+13G= (n.1833+13G=) c.1743+13G= (n.1743+13G=) c.1278+13G= (n.1278+13G=) c.447+13G= | |
14 | g.87939892C>T | CA7296871 | GALC | c.1911+13G>A (n.1911+13G>A) c.1842+13G>A (n.1842+13G>A) c.1833+13G>A (n.1833+13G>A) c.1743+13G>A (n.1743+13G>A) c.1278+13G>A (n.1278+13G>A) c.447+13G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87939893A>G | CA2625978557 | GALC | c.1911+12T>C (n.1911+12T>C) c.1842+12T>C (n.1842+12T>C) c.1833+12T>C (n.1833+12T>C) c.1743+12T>C (n.1743+12T>C) c.1278+12T>C (n.1278+12T>C) c.447+12T>C | gnomAD v4 |
14 | g.87939894G>A | CA655657920 | GALC | c.1911+11C>T (n.1911+11C>T) c.1842+11C>T (n.1842+11C>T) c.1833+11C>T (n.1833+11C>T) c.1743+11C>T (n.1743+11C>T) c.1278+11C>T (n.1278+11C>T) c.447+11C>T | gnomAD v4 COSMIC |
14 | g.87939894G>C | CA7296872 | GALC | c.1911+11C>G (n.1911+11C>G) c.1842+11C>G (n.1842+11C>G) c.1833+11C>G (n.1833+11C>G) c.1743+11C>G (n.1743+11C>G) c.1278+11C>G (n.1278+11C>G) c.447+11C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.87939894G= | CA2153352677 | GALC | c.1911+11C= (n.1911+11C=) c.1842+11C= (n.1842+11C=) c.1833+11C= (n.1833+11C=) c.1743+11C= (n.1743+11C=) c.1278+11C= (n.1278+11C=) c.447+11C= | |
14 | g.87939894G>T | CA2625978558 | GALC | c.1911+11C>A (n.1911+11C>A) c.1842+11C>A (n.1842+11C>A) c.1833+11C>A (n.1833+11C>A) c.1743+11C>A (n.1743+11C>A) c.1278+11C>A (n.1278+11C>A) c.447+11C>A | gnomAD v4 |
14 | g.87939895C>T | CA2499222751 | GALC | c.1911+10G>A (n.1911+10G>A) c.1842+10G>A (n.1842+10G>A) c.1833+10G>A (n.1833+10G>A) c.1743+10G>A (n.1743+10G>A) c.1278+10G>A (n.1278+10G>A) c.447+10G>A | ClinVar dbSNP gnomAD v4 |
14 | g.87939895_87939896delinsCA | CA2153352678 | GALC | c.1911+9_1911+10delinsTG (n.1911+9_1911+10delinsTG) c.1842+9_1842+10delinsTG (n.1842+9_1842+10delinsTG) c.1833+9_1833+10delinsTG (n.1833+9_1833+10delinsTG) c.1743+9_1743+10delinsTG (n.1743+9_1743+10delinsTG) c.1278+9_1278+10delinsTG (n.1278+9_1278+10delinsTG) c.447+9_447+10delinsTG | |
14 | g.87939896A>C | CA2499222752 | GALC | c.1911+9T>G (n.1911+9T>G) c.1842+9T>G (n.1842+9T>G) c.1833+9T>G (n.1833+9T>G) c.1743+9T>G (n.1743+9T>G) c.1278+9T>G (n.1278+9T>G) c.447+9T>G | ClinVar dbSNP |
14 | g.87939897del | CA919472159 | GALC | c.1911+9del (n.1911+9del) c.1842+9del (n.1842+9del) c.1833+9del (n.1833+9del) c.1743+9del (n.1743+9del) c.1278+9del (n.1278+9del) c.447+9del | dbSNP |
14 | g.87939898T>C | CA487355281 | GALC | c.1911+7A>G (n.1911+7A>G) c.1842+7A>G (n.1842+7A>G) c.1833+7A>G (n.1833+7A>G) c.1743+7A>G (n.1743+7A>G) c.1278+7A>G (n.1278+7A>G) c.447+7A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.87939898T= | CA2153352679 | GALC | c.1911+7A= (n.1911+7A=) c.1842+7A= (n.1842+7A=) c.1833+7A= (n.1833+7A=) c.1743+7A= (n.1743+7A=) c.1278+7A= (n.1278+7A=) c.447+7A= | |
14 | g.87939901_87939904dup | CA2625978559 | GALC | c.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 |
14 | g.87939899_87939904del | CA912979936 | GALC | c.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 | |
14 | g.87939899_87939904delinsACTTAC | CA2153352680 | GALC | c.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 | |
14 | g.87939904_87939908del | CA7296873 | GALC | c.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 |
14 | g.87939901T>C | CA2153352682 | GALC | c.1911+4A>G (n.1911+4A>G) c.1842+4A>G (n.1842+4A>G) c.1833+4A>G (n.1833+4A>G) c.1743+4A>G (n.1743+4A>G) c.1278+4A>G (n.1278+4A>G) c.447+4A>G | ClinVar dbSNP gnomAD v4 |
14 | g.87939901T= | CA2153352681 | GALC | c.1911+4A= (n.1911+4A=) c.1842+4A= (n.1842+4A=) c.1833+4A= (n.1833+4A=) c.1743+4A= (n.1743+4A=) c.1278+4A= (n.1278+4A=) c.447+4A= | |
14 | g.87939902T>A | CA2153352684 | GALC | c.1911+3A>T (n.1911+3A>T) c.1842+3A>T (n.1842+3A>T) c.1833+3A>T (n.1833+3A>T) c.1743+3A>T (n.1743+3A>T) c.1278+3A>T (n.1278+3A>T) c.447+3A>T | dbSNP |
14 | g.87939902T>C | CA615270093 | GALC | c.1911+3A>G (n.1911+3A>G) c.1842+3A>G (n.1842+3A>G) c.1833+3A>G (n.1833+3A>G) c.1743+3A>G (n.1743+3A>G) c.1278+3A>G (n.1278+3A>G) c.447+3A>G | dbSNP gnomAD v2 |
14 | g.87939902T= | CA2153352683 | GALC | c.1911+3A= (n.1911+3A=) c.1842+3A= (n.1842+3A=) c.1833+3A= (n.1833+3A=) c.1743+3A= (n.1743+3A=) c.1278+3A= (n.1278+3A=) c.447+3A= | |
14 | g.87939903A>C | CA390745392 | GALC | c.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 | |
14 | g.87939903A>G | CA390745393 | GALC | c.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 | |
14 | g.87939903A>T | CA390745394 | GALC | c.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 | |
14 | g.87939904C>A | CA390745395 | GALC | c.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 | |
14 | g.87939904C>G | CA390745396 | GALC | c.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 | |
14 | g.87939904C>T | CA390745397 | GALC | c.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 | |
14 | g.87939905C>A | CA390745398 | GALC | c.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 | |
14 | g.87939905C= | CA2153352685 | GALC | c.1911G= (p.Lys637=) c.1842G= (p.Lys614=) c.1833G= (p.Lys611=) c.1743G= (p.Lys581=) c.1278G= (p.Lys426=) c.447G= | |
14 | g.87939905C>G | CA390745399 | GALC | c.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 | |
14 | g.87939905C>T | CA7296874 | GALC | c.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 |
14 | g.87939906T>A | CA390745400 | GALC | c.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 | |
14 | g.87939906T>C | CA390745401 | GALC | c.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 |
14 | g.87939906T>G | CA390745402 | GALC | c.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 | |
14 | g.87939907T>A | CA390745405 | GALC | c.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 | |
14 | g.87939907T>C | CA390745403 | GALC | c.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 | |
14 | g.87939907T>G | CA390745404 | GALC | c.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 | |
14 | g.87939908A= | CA2153352686 | GALC | c.1908T= (p.Ile636=) c.1839T= (p.Ile613=) c.1830T= (p.Ile610=) c.1740T= (p.Ile580=) c.1275T= (p.Ile425=) c.444T= | |
14 | g.87939908A>C | CA390745406 | GALC | c.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 | |
14 | g.87939908A>G | CA7296875 | GALC | c.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 |
14 | g.87939908A>T | CA487355282 | GALC | c.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 |
14 | g.87939909A>C | CA390745407 | GALC | c.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 | |
14 | g.87939909A>G | CA390745408 | GALC | c.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 | |
14 | g.87939909A>T | CA390745409 | GALC | c.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 | |
14 | g.87939910T>A | CA390745410 | GALC | c.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 | |
14 | g.87939910T>C | CA390745411 | GALC | c.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 | |
14 | g.87939910T>G | CA390745412 | GALC | c.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 | |
14 | g.87939911A>C | CA487355283 | GALC | c.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 | |
14 | g.87939911A>G | CA487355284 | GALC | c.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 |
14 | g.87939911A>T | CA487355285 | GALC | c.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 | |
14 | g.87939912G>A | CA390745413 | GALC | c.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 | |
14 | g.87939912G>C | CA390745414 | GALC | c.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 | |
14 | g.87939912G= | CA2153352687 | GALC | c.1904C= (p.Thr635=) c.1835C= (p.Thr612=) c.1826C= (p.Thr609=) c.1736C= (p.Thr579=) c.1271C= (p.Thr424=) c.440C= | |
14 | g.87939912G>T | CA7296876 | GALC | c.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 |
14 | g.87939913T>A | CA390745417 | GALC | c.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 | |
14 | g.87939913T>C | CA390745416 | GALC | c.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 | |
14 | g.87939913T>G | CA390745415 | GALC | c.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 | |
14 | g.87939914T>A | CA390745418 | GALC | c.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 | |
14 | g.87939914T>C | CA487355286 | GALC | c.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 |
14 | g.87939914T>G | CA390745419 | GALC | c.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 | |
14 | g.87939914T= | CA2153352688 | GALC | c.1902A= (p.Leu634=) c.1833A= (p.Leu611=) c.1824A= (p.Leu608=) c.1734A= (p.Leu578=) c.1269A= (p.Leu423=) c.438A= | |
14 | g.87939914_87939915del | CA912979937 | GALC | c.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 | |
14 | g.87939914_87939915delinsTA | CA2153352689 | GALC | c.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 | |
14 | g.87939915A= | CA2153352690 | GALC | c.1901T= (p.Leu634=) c.1832T= (p.Leu611=) c.1823T= (p.Leu608=) c.1733T= (p.Leu578=) c.1268T= (p.Leu423=) c.437T= | |
14 | g.87939915A>C | CA390745420 | GALC | c.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 | |
14 | g.87939915A>G | CA7296877 | GALC | c.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 |
14 | g.87939915A>T | CA390745421 | GALC | c.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 | |
14 | g.87939916del | CA658824342 | GALC | c.1901del (p.Leu634Ter) c.1832del (p.Leu611Ter) c.1823del (p.Leu608Ter) c.1733del (p.Leu578Ter) c.1268del (p.Leu423Ter) c.437del | ClinVar dbSNP |
14 | g.87939915_87939920delinsAACGTG | CA2153352691 | GALC | c.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 | |
14 | g.87939916_87939921del | CA912979938 | GALC | c.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 | |
14 | g.87939916A= | CA2153352692 | GALC | c.1900T= (p.Leu634=) c.1831T= (p.Leu611=) c.1822T= (p.Leu608=) c.1732T= (p.Leu578=) c.1267T= (p.Leu423=) c.436T= | |
14 | g.87939916A>C | CA390745422 | GALC | c.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 |
14 | g.87939916A>G | CA487355287 | GALC | c.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 | |
14 | g.87939916A>T | CA390745423 | GALC | c.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 |
14 | g.87939917_87939921del | CA7296878 | GALC | c.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 |
14 | g.87939917del | CA2695219785 | GALC | c.1899del (p.Leu634Ter) c.1830del (p.Leu611Ter) c.1821del (p.Leu608Ter) c.1731del (p.Leu578Ter) c.1266del (p.Leu423Ter) c.435del | |
14 | g.87939917C>A | CA7296879 | GALC | c.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 |
14 | g.87939917C= | CA2153352693 | GALC | c.1899G= (p.Thr633=) c.1830G= (p.Thr610=) c.1821G= (p.Thr607=) c.1731G= (p.Thr577=) c.1266G= (p.Thr422=) c.435G= | |
14 | g.87939917C>G | CA487355288 | GALC | c.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 | |
14 | g.87939917C>T | CA7296880 | GALC | c.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 |
14 | g.87939918G>A | CA7296881 | GALC | c.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 |
14 | g.87939918G>C | CA390745424 | GALC | c.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 |
14 | g.87939918G= | CA2153352694 | GALC | c.1898C= (p.Thr633=) c.1829C= (p.Thr610=) c.1820C= (p.Thr607=) c.1730C= (p.Thr577=) c.1265C= (p.Thr422=) c.434C= | |
14 | g.87939918G>T | CA390745425 | GALC | c.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 |
14 | g.87939919T>A | CA390745428 | GALC | c.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 | |
14 | g.87939919T>C | CA390745426 | GALC | c.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 | |
14 | g.87939919T>G | CA390745427 | GALC | c.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 | |
14 | g.87939919dup | CA16619888 | GALC | c.1897dup (p.Thr633AsnfsTer5) c.1828dup (p.Thr610AsnfsTer5) c.1819dup (p.Thr607AsnfsTer5) c.1729dup (p.Thr577AsnfsTer5) c.1264dup (p.Thr422AsnfsTer5) c.433dup | ClinVar dbSNP |
14 | g.87939920G>A | CA487355289 | GALC | c.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 |
14 | g.87939920G>C | CA487355290 | GALC | c.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 |
14 | g.87939920G= | CA2153352695 | GALC | c.1896C= (p.Leu632=) c.1827C= (p.Leu609=) c.1818C= (p.Leu606=) c.1728C= (p.Leu576=) c.1263C= (p.Leu421=) c.432C= | |
14 | g.87939920G>T | CA487355291 | GALC | c.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 |
14 | g.87939921A= | CA2153352696 | GALC | c.1895T= (p.Leu632=) c.1826T= (p.Leu609=) c.1817T= (p.Leu606=) c.1727T= (p.Leu576=) c.1262T= (p.Leu421=) c.431T= | |
14 | g.87939921A>C | CA390745429 | GALC | c.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 |
14 | g.87939921A>G | CA390745430 | GALC | c.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 |
14 | g.87939921A>T | CA390745431 | GALC | c.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 | |
14 | g.87939922G>A | CA390745432 | GALC | c.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 |
14 | g.87939922G>C | CA390745433 | GALC | c.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 | |
14 | g.87939922G= | CA2153352697 | GALC | c.1894C= (p.Leu632=) c.1825C= (p.Leu609=) c.1816C= (p.Leu606=) c.1726C= (p.Leu576=) c.1261C= (p.Leu421=) c.430C= | |
14 | g.87939922G>T | CA390745434 | GALC | c.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 | |
14 | g.87939923_87939939del | CA2580088855 | GALC | c.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 |
14 | g.87939923T>A | CA487355294 | GALC | c.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 | |
14 | g.87939923T>C | CA487355292 | GALC | c.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 |
14 | g.87939923T>G | CA487355293 | GALC | c.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 | |
14 | g.87939923T= | CA2153352698 | GALC | c.1893A= (p.Thr631=) c.1824A= (p.Thr608=) c.1815A= (p.Thr605=) c.1725A= (p.Thr575=) c.1260A= (p.Thr420=) c.429A= | |
14 | g.87939924del | CA2802491929 | GALC | c.1892del (p.Thr631AsnfsTer4) c.1823del (p.Thr608AsnfsTer4) c.1814del (p.Thr605AsnfsTer4) c.1724del (p.Thr575AsnfsTer4) c.1259del (p.Thr420AsnfsTer4) c.428del | |
14 | g.87939924G>A | CA390745435 | GALC | c.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 |
14 | g.87939924G>C | CA390745436 | GALC | c.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 | |
14 | g.87939924G= | CA2153352699 | GALC | c.1892C= (p.Thr631=) c.1823C= (p.Thr608=) c.1814C= (p.Thr605=) c.1724C= (p.Thr575=) c.1259C= (p.Thr420=) c.428C= | |
14 | g.87939924G>T | CA390745437 | GALC | c.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 |
14 | g.87939925T>A | CA390745438 | GALC | c.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 |
14 | g.87939925T>C | CA390745439 | GALC | c.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 |
14 | g.87939925T>G | CA390745440 | GALC | c.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 | |
14 | g.87939927_87939928del | CA2575661024 | GALC | c.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 | |
14 | g.87939926A= | CA2153352700 | GALC | c.1890T= (p.Tyr630=) c.1821T= (p.Tyr607=) c.1812T= (p.Tyr604=) c.1722T= (p.Tyr574=) c.1257T= (p.Tyr419=) c.426T= | |
14 | g.87939926A>C | CA390745441 | GALC | c.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 | |
14 | g.87939926A>G | CA487355295 | GALC | c.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 |
14 | g.87939926A>T | CA16041690 | GALC | c.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 |
14 | g.87939927T>A | CA390745442 | GALC | c.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 | |
14 | g.87939927T>C | CA390745444 | GALC | c.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 | |
14 | g.87939927T>G | CA390745443 | GALC | c.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 | |
14 | g.87939927_87939944delinsTACCATTTTTTTGCTGTA | CA2153352701 | GALC | c.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 | |
14 | g.87939928A>C | CA390745445 | GALC | c.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 | |
14 | g.87939928A>G | CA390745446 | GALC | c.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 |
14 | g.87939928A>T | CA390745447 | GALC | c.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 | |
14 | g.87939928_87939929delinsAC | CA2153352702 | GALC | c.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 | |
14 | g.87939930_87939946del | CA965694387 | GALC | c.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 |
14 | g.87939929C>A | CA390745448 | GALC | c.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 | |
14 | g.87939929C= | CA2153352703 | GALC | c.1887G= (p.Trp629=) c.1818G= (p.Trp606=) c.1809G= (p.Trp603=) c.1719G= (p.Trp573=) c.1254G= (p.Trp418=) c.423G= | |
14 | g.87939929C>G | CA390745449 | GALC | c.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 | |
14 | g.87939929C>T | CA7296882 | GALC | c.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 |
14 | g.87939930del | CA1139663613 | GALC | c.1887del (p.Trp629CysfsTer6) c.1818del (p.Trp606CysfsTer6) c.1809del (p.Trp603CysfsTer6) c.1719del (p.Trp573CysfsTer6) c.1254del (p.Trp418CysfsTer6) c.423del | ClinVar dbSNP |
14 | g.87939930C>A | CA390745450 | GALC | c.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 |
14 | g.87939930C= | CA2153352704 | GALC | c.1886G= (p.Trp629=) c.1817G= (p.Trp606=) c.1808G= (p.Trp603=) c.1718G= (p.Trp573=) c.1253G= (p.Trp418=) c.422G= | |
14 | g.87939930C>G | CA390745451 | GALC | c.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 | |
14 | g.87939930C>T | CA390745452 | GALC | c.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 | |
14 | g.87939931A>C | CA390745453 | GALC | c.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 | |
14 | g.87939931A>G | CA390745454 | GALC | c.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 | |
14 | g.87939931A>T | CA390745455 | GALC | c.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 | |
14 | g.87939931dup | CA912979939 | GALC | c.1885dup (p.Trp629LeufsTer9) c.1816dup (p.Trp606LeufsTer9) c.1807dup (p.Trp603LeufsTer9) c.1717dup (p.Trp573LeufsTer9) c.1252dup (p.Trp418LeufsTer9) c.421dup | |
14 | g.87939931_87939932delinsAT | CA2153352705 | GALC | c.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 | |
14 | g.87939932T>A | CA390745457 | GALC | c.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 | |
14 | g.87939932T>C | CA7296883 | GALC | c.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 |
14 | g.87939932T>G | CA390745456 | GALC | c.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 | |
14 | g.87939932T= | CA2153352706 | GALC | c.1884A= (p.Lys628=) c.1815A= (p.Lys605=) c.1806A= (p.Lys602=) c.1716A= (p.Lys572=) c.1251A= (p.Lys417=) c.420A= | |
14 | g.87939938dup | CA615270109 | GALC | c.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 |
14 | g.87939938del | CA645581076 | GALC | c.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 |
14 | g.87939933T>A | CA390745458 | GALC | c.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 | |
14 | g.87939933T>C | CA390745459 | GALC | c.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 | |
14 | g.87939933T>G | CA390745460 | GALC | c.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 |
14 | g.87939934T>A | CA390745461 | GALC | c.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 |
14 | g.87939934T>C | CA390745462 | GALC | c.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 | |
14 | g.87939934T>G | CA390745463 | GALC | c.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 | |
14 | g.87939935T>A | CA390745464 | GALC | c.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 | |
14 | g.87939935T>C | CA487355296 | GALC | c.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 | |
14 | g.87939935T>G | CA390745465 | GALC | c.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 | |
14 | g.87939936T>A | CA390745466 | GALC | c.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 | |
14 | g.87939936T>C | CA390745467 | GALC | c.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 | |
14 | g.87939936T>G | CA390745468 | GALC | c.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 | |
14 | g.87939937T>A | CA390745471 | GALC | c.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 | |
14 | g.87939937T>C | CA390745470 | GALC | c.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 | |
14 | g.87939937T>G | CA390745469 | GALC | c.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 | |
14 | g.87939938T>A | CA487355297 | GALC | c.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 | |
14 | g.87939938T>C | CA487355298 | GALC | c.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 | |
14 | g.87939938T>G | CA7296884 | GALC | c.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 |
14 | g.87939938T= | CA2153352707 | GALC | c.1878A= (p.Ala626=) c.1809A= (p.Ala603=) c.1800A= (p.Ala600=) c.1710A= (p.Ala570=) c.1245A= (p.Ala415=) c.414A= | |
14 | g.87939939G>A | CA390745472 | GALC | c.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 | |
14 | g.87939939G>C | CA390745473 | GALC | c.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 | |
14 | g.87939939G= | CA2153352708 | GALC | c.1877C= (p.Ala626=) c.1808C= (p.Ala603=) c.1799C= (p.Ala600=) c.1709C= (p.Ala570=) c.1244C= (p.Ala415=) c.413C= | |
14 | g.87939939G>T | CA390745474 | GALC | c.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 |
14 | g.87939940C>A | CA390745475 | GALC | c.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 | |
14 | g.87939940C= | CA2153352709 | GALC | c.1876G= (p.Ala626=) c.1807G= (p.Ala603=) c.1798G= (p.Ala600=) c.1708G= (p.Ala570=) c.1243G= (p.Ala415=) c.412G= | |
14 | g.87939940C>G | CA390745476 | GALC | c.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 | |
14 | g.87939940C>T | CA390745477 | GALC | c.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 |
14 | g.87939941T>A | CA487355299 | GALC | c.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 | |
14 | g.87939941T>C | CA7296885 | GALC | c.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 |
14 | g.87939941T>G | CA487355300 | GALC | c.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 | |
14 | g.87939941T= | CA2153352710 | GALC | c.1875A= (p.Thr625=) c.1806A= (p.Thr602=) c.1797A= (p.Thr599=) c.1707A= (p.Thr569=) c.1242A= (p.Thr414=) c.411A= | |
14 | g.87939942G>A | CA7296886 | GALC | c.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 |
14 | g.87939942G>C | CA390745478 | GALC | c.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 | |
14 | g.87939942G= | CA2153352711 | GALC | c.1874C= (p.Thr625=) c.1805C= (p.Thr602=) c.1796C= (p.Thr599=) c.1706C= (p.Thr569=) c.1241C= (p.Thr414=) c.410C= | |
14 | g.87939942G>T | CA390745479 | GALC | c.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 |
14 | g.87939943T>A | CA390745480 | GALC | c.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 |
14 | g.87939943T>C | CA390745481 | GALC | c.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 | |
14 | g.87939943T>G | CA390745482 | GALC | c.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 | |
14 | g.87939944A= | CA2153352712 | GALC | c.1872T= (p.Val624=) c.1803T= (p.Val601=) c.1794T= (p.Val598=) c.1704T= (p.Val568=) c.1239T= (p.Val413=) c.408T= | |
14 | g.87939944A>C | CA487355303 | GALC | c.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 | |
14 | g.87939944A>G | CA7296887 | GALC | c.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 |
14 | g.87939944A>T | CA487355302 | GALC | c.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 |
14 | g.87939945A= | CA2153352713 | GALC | c.1871T= (p.Val624=) c.1802T= (p.Val601=) c.1793T= (p.Val598=) c.1703T= (p.Val568=) c.1238T= (p.Val413=) c.407T= | |
14 | g.87939945A>C | CA390745483 | GALC | c.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 | |
14 | g.87939945A>G | CA390745484 | GALC | c.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 |
14 | g.87939945A>T | CA390745485 | GALC | c.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 |
14 | g.87939946C>A | CA390745486 | GALC | c.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 | |
14 | g.87939946C= | CA2153352714 | GALC | c.1870G= (p.Val624=) c.1801G= (p.Val601=) c.1792G= (p.Val598=) c.1702G= (p.Val568=) c.1237G= (p.Val413=) c.406G= | |
14 | g.87939946C>G | CA390745487 | GALC | c.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 | |
14 | g.87939946C>T | CA390745488 | GALC | c.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 |
14 | g.87939947T>A | CA390745489 | GALC | c.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 | |
14 | g.87939947T>C | CA487355305 | GALC | c.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 | |
14 | g.87939947T>G | CA390745490 | GALC | c.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 | |
14 | g.87939948T>A | CA390745491 | GALC | c.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 | |
14 | g.87939948T>C | CA390745492 | GALC | c.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 | |
14 | g.87939948T>G | CA390745493 | GALC | c.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 | |
14 | g.87939949C>A | CA390745494 | GALC | c.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 |
14 | g.87939949C>G | CA390745495 | GALC | c.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 | |
14 | g.87939949C>T | CA390745496 | GALC | c.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 | |
14 | g.87939950A>C | CA487355308 | GALC | c.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 |
14 | g.87939950A>G | CA487355306 | GALC | c.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 | |
14 | g.87939950A>T | CA487355307 | GALC | c.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 |
14 | g.87939951A= | CA2153352715 | GALC | c.1865T= (p.Val622=) c.1796T= (p.Val599=) c.1787T= (p.Val596=) c.1697T= (p.Val566=) c.1232T= (p.Val411=) c.401T= | |
14 | g.87939951A>C | CA390745498 | GALC | c.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 | |
14 | g.87939951A>G | CA390745499 | GALC | c.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 |
14 | g.87939951A>T | CA390745497 | GALC | c.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 |
14 | g.87939952C>A | CA390745501 | GALC | c.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 |
14 | g.87939952C>G | CA390745500 | GALC | c.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 | |
14 | g.87939952C>T | CA390745502 | GALC | c.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 | |
14 | g.87939953A>C | CA487355309 | GALC | c.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 | |
14 | g.87939953A>G | CA487355310 | GALC | c.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 | |
14 | g.87939953A>T | CA487355311 | GALC | c.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 | |
14 | g.87939954C>A | CA390745503 | GALC | c.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 |
14 | g.87939954C= | CA2153352716 | GALC | c.1862G= (p.Arg621=) c.1793G= (p.Arg598=) c.1784G= (p.Arg595=) c.1694G= (p.Arg565=) c.1229G= (p.Arg410=) c.398G= | |
14 | g.87939954C>G | CA390745504 | GALC | c.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 | |
14 | g.87939954C>T | CA7296888 | GALC | c.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 |
14 | g.87939955G>A | CA7296889 | GALC | c.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 |
14 | g.87939955G>C | CA390745505 | GALC | c.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 | |
14 | g.87939955G= | CA2153352717 | GALC | c.1861C= (p.Arg621=) c.1792C= (p.Arg598=) c.1783C= (p.Arg595=) c.1693C= (p.Arg565=) c.1228C= (p.Arg410=) c.397C= | |
14 | g.87939955G>T | CA390745506 | GALC | c.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 |
14 | g.87939956T>A | CA487355312 | GALC | c.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 | |
14 | g.87939956T>C | CA487355313 | GALC | c.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 |
14 | g.87939956T>G | CA487355314 | GALC | c.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 |
14 | g.87939956T= | CA2153352718 | GALC | c.1860A= (p.Gly620=) c.1791A= (p.Gly597=) c.1782A= (p.Gly594=) c.1692A= (p.Gly564=) c.1227A= (p.Gly409=) c.396A= | |
14 | g.87939957C>A | CA390745507 | GALC | c.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 |
14 | g.87939957C= | CA2153352719 | GALC | c.1859G= (p.Gly620=) c.1790G= (p.Gly597=) c.1781G= (p.Gly594=) c.1691G= (p.Gly564=) c.1226G= (p.Gly409=) c.395G= | |
14 | g.87939957C>G | CA390745508 | GALC | c.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 |
14 | g.87939957C>T | CA390745509 | GALC | c.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 |
14 | g.87939958C>A | CA390745510 | GALC | c.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 | |
14 | g.87939958C= | CA2153352720 | GALC | c.1858G= (p.Gly620=) c.1789G= (p.Gly597=) c.1780G= (p.Gly594=) c.1690G= (p.Gly564=) c.1225G= (p.Gly409=) c.394G= | |
14 | g.87939958C>G | CA390745511 | GALC | c.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 | |
14 | g.87939958C>T | CA7296890 | GALC | c.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 |
14 | g.87939959T>A | CA390745512 | GALC | c.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 | |
14 | g.87939959T>C | CA487355315 | GALC | c.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 | |
14 | g.87939959T>G | CA390745513 | GALC | c.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 | |
14 | g.87939960A= | CA2153352721 | GALC | c.1856T= (p.Leu619=) c.1787T= (p.Leu596=) c.1778T= (p.Leu593=) c.1688T= (p.Leu563=) c.1223T= (p.Leu408=) c.392T= | |
14 | g.87939960A>C | CA390745514 | GALC | c.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 | |
14 | g.87939960A>G | CA7296891 | GALC | c.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 |
14 | g.87939960A>T | CA390745515 | GALC | c.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 | |
14 | g.87939962del | CA2695219786 | GALC | c.1856del (p.Leu619Ter) c.1787del (p.Leu596Ter) c.1778del (p.Leu593Ter) c.1688del (p.Leu563Ter) c.1223del (p.Leu408Ter) c.392del | |
14 | g.87939961A>C | CA390745516 | GALC | c.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 | |
14 | g.87939961A>G | CA487355316 | GALC | c.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 | |
14 | g.87939961A>T | CA390745517 | GALC | c.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 | |
14 | g.87939962A>C | CA487355317 | GALC | c.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 | |
14 | g.87939962A>G | CA487355318 | GALC | c.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 | |
14 | g.87939962A>T | CA487355319 | GALC | c.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 | |
14 | g.87939963del | CA2573150288 | GALC | c.1853del (p.Ala618ValfsTer2) c.1784del (p.Ala595ValfsTer2) c.1775del (p.Ala592ValfsTer2) c.1685del (p.Ala562ValfsTer2) c.1220del (p.Ala407ValfsTer2) c.389del | ClinVar dbSNP |
14 | g.87939963G>A | CA390745518 | GALC | c.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 |
14 | g.87939963G>C | CA390745519 | GALC | c.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 | |
14 | g.87939963G= | CA2153352722 | GALC | c.1853C= (p.Ala618=) c.1784C= (p.Ala595=) c.1775C= (p.Ala592=) c.1685C= (p.Ala562=) c.1220C= (p.Ala407=) c.389C= | |
14 | g.87939963G>T | CA390745520 | GALC | c.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 | |
14 | g.87939964C>A | CA390745521 | GALC | c.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 | |
14 | g.87939964C>G | CA390745522 | GALC | c.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 | |
14 | g.87939964C>T | CA390745523 | GALC | c.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 |
14 | g.87939964_87939965delinsCA | CA2153352723 | GALC | c.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 | |
14 | g.87939965del | CA16041691 | GALC | c.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 |
14 | g.87939965A>C | CA390745524 | GALC | c.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 | |
14 | g.87939965A>G | CA487355320 | GALC | c.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 | |
14 | g.87939965A>T | CA390745525 | GALC | c.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 | |
14 | g.87939966T>A | CA390745526 | GALC | c.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 | |
14 | g.87939966T>C | CA390745527 | GALC | c.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 |
14 | g.87939966T>G | CA390745528 | GALC | c.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 |
14 | g.87939967A>C | CA390745529 | GALC | c.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 | |
14 | g.87939967A>G | CA390745531 | GALC | c.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 | |
14 | g.87939967A>T | CA390745530 | GALC | c.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 | |
14 | g.87939968T>A | CA487355321 | GALC | c.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 | |
14 | g.87939968T>C | CA390745532 | GALC | c.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 | |
14 | g.87939968T>G | CA487355322 | GALC | c.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 | |
14 | g.87939969A>C | CA390745533 | GALC | c.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 |
14 | g.87939969A>G | CA390745534 | GALC | c.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 | |
14 | g.87939969A>T | CA390745535 | GALC | c.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 | |
14 | g.87939970T>A | CA390745536 | GALC | c.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 |
14 | g.87939970T>C | CA390745537 | GALC | c.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 | |
14 | g.87939970T>G | CA390745538 | GALC | c.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 | |
14 | g.87939971A>C | CA390745539 | GALC | c.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 | |
14 | g.87939971A>G | CA487355323 | GALC | c.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 | |
14 | g.87939971A>T | CA487355324 | GALC | c.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 |
14 | g.87939972A>C | CA390745540 | GALC | c.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 | |
14 | g.87939972A>G | CA390745541 | GALC | c.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 | |
14 | g.87939972A>T | CA390745542 | GALC | c.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 | |
14 | g.87939973T>A | CA390745545 | GALC | c.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 | |
14 | g.87939973T>C | CA390745544 | GALC | c.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 | |
14 | g.87939973T>G | CA390745543 | GALC | c.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 | |
14 | g.87939974C>A | CA390745546 | GALC | c.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 |
14 | g.87939974C= | CA2153352724 | GALC | c.1842G= (p.Trp614=) c.1773G= (p.Trp591=) c.1764G= (p.Trp588=) c.1674G= (p.Trp558=) c.1209G= (p.Trp403=) c.378G= | |
14 | g.87939974C>G | CA390745547 | GALC | c.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 | |
14 | g.87939974C>T | CA390745548 | GALC | c.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 |
14 | g.87939975C>A | CA390745549 | GALC | c.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 | |
14 | g.87939975C>G | CA390745550 | GALC | c.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 | |
14 | g.87939975C>T | CA390745551 | GALC | c.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 | |
14 | g.87939976A>C | CA390745552 | GALC | c.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 | |
14 | g.87939976A>G | CA390745553 | GALC | c.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 | |
14 | g.87939976A>T | CA390745554 | GALC | c.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 | |
14 | g.87939977T>A | CA487355325 | GALC | c.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 |
14 | g.87939977T>C | CA487355327 | GALC | c.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 | |
14 | g.87939977T>G | CA487355326 | GALC | c.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 | |
14 | g.87939978C>A | CA390745555 | GALC | c.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 | |
14 | g.87939978C= | CA2153352725 | GALC | c.1838G= (p.Gly613=) c.1769G= (p.Gly590=) c.1760G= (p.Gly587=) c.1670G= (p.Gly557=) c.1205G= (p.Gly402=) c.374G= | |
14 | g.87939978C>G | CA390745556 | GALC | c.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 | |
14 | g.87939978C>T | CA390745557 | GALC | c.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 |
14 | g.87939979C>A | CA16041692 | GALC | c.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 |
14 | g.87939979C= | CA2153352726 | GALC | c.1837G= (p.Gly613=) c.1768G= (p.Gly590=) c.1759G= (p.Gly587=) c.1669G= (p.Gly557=) c.1204G= (p.Gly402=) c.373G= | |
14 | g.87939979C>G | CA390745559 | GALC | c.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 | |
14 | g.87939979C>T | CA390745558 | GALC | c.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 |
14 | g.87939980A>C | CA487355329 | GALC | c.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 | |
14 | g.87939980A>G | CA487355330 | GALC | c.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 | |
14 | g.87939980A>T | CA487355331 | GALC | c.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 | |
14 | g.87939980dup | CA2573105871 | GALC | c.1836dup (p.Gly613TrpfsTer11) c.1767dup (p.Gly590TrpfsTer11) c.1758dup (p.Gly587TrpfsTer11) c.1668dup (p.Gly557TrpfsTer11) c.1203dup (p.Gly402TrpfsTer11) c.372dup | |
14 | g.87939981G>A | CA390745562 | GALC | c.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 |
14 | g.87939981G>C | CA390745560 | GALC | c.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 | |
14 | g.87939981G= | CA2153352727 | GALC | c.1835C= (p.Ala612=) c.1766C= (p.Ala589=) c.1757C= (p.Ala586=) c.1667C= (p.Ala556=) c.1202C= (p.Ala401=) c.371C= | |
14 | g.87939981G>T | CA390745561 | GALC | c.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 |
14 | g.87939982C>A | CA390745563 | GALC | c.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 | |
14 | g.87939982C= | CA2153352728 | GALC | c.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= | |
14 | g.87939982C>G | CA390745564 | GALC | c.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 | |
14 | g.87939982C>T | CA390745565 | GALC | c.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 |
14 | g.87939983T>A | CA390745566 | GALC | c.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 | |
14 | g.87939983T>C | CA390745567 | GALC | c.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 | |
14 | g.87939983T>G | CA390745568 | GALC | c.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 |