UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87945680C>A | CA390746226 | GALC | c.1543G>T (p.Glu515Ter) c.1474G>T (p.Glu492Ter) c.1465G>T (p.Glu489Ter) c.1375G>T (p.Glu459Ter) c.910G>T (p.Glu304Ter) c.206+2048G>T c.*941G>T (n.*941G>T) | |
| 14 | g.87945680C= | CA2153356923 | GALC | c.1543G= (p.Glu515=) c.1474G= (p.Glu492=) c.1465G= (p.Glu489=) c.1375G= (p.Glu459=) c.910G= (p.Glu304=) c.206+2048G= c.*941G= (n.*941G=) | |
| 14 | g.87945680C>G | CA390746227 | GALC | c.1543G>C (p.Glu515Gln) c.1474G>C (p.Glu492Gln) c.1465G>C (p.Glu489Gln) c.1375G>C (p.Glu459Gln) c.910G>C (p.Glu304Gln) c.206+2048G>C c.*941G>C (n.*941G>C) | gnomAD v4 |
| 14 | g.87945680C>T | CA274999 | GALC | c.1543G>A (p.Glu515Lys) c.1474G>A (p.Glu492Lys) c.1465G>A (p.Glu489Lys) c.1375G>A (p.Glu459Lys) c.910G>A (p.Glu304Lys) c.206+2048G>A c.*941G>A (n.*941G>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87945681A>C | CA390746228 | GALC | c.1542T>G (p.Phe514Leu) c.1473T>G (p.Phe491Leu) c.1464T>G (p.Phe488Leu) c.1374T>G (p.Phe458Leu) c.909T>G (p.Phe303Leu) c.206+2047T>G c.*940T>G (n.*940T>G) | |
| 14 | g.87945681A>G | CA487355555 | GALC | c.1542T>C (p.Phe514=) c.1473T>C (p.Phe491=) c.1464T>C (p.Phe488=) c.1374T>C (p.Phe458=) c.909T>C (p.Phe303=) c.206+2047T>C c.*940T>C (n.*940T>C) | |
| 14 | g.87945681A>T | CA390746229 | GALC | c.1542T>A (p.Phe514Leu) c.1473T>A (p.Phe491Leu) c.1464T>A (p.Phe488Leu) c.1374T>A (p.Phe458Leu) c.909T>A (p.Phe303Leu) c.206+2047T>A c.*940T>A (n.*940T>A) | |
| 14 | g.87945682A= | CA2153356929 | GALC | c.1541T= (p.Phe514=) c.1472T= (p.Phe491=) c.1463T= (p.Phe488=) c.1373T= (p.Phe458=) c.908T= (p.Phe303=) c.206+2046T= c.*939T= (n.*939T=) | |
| 14 | g.87945682A>C | CA390746230 | GALC | c.1541T>G (p.Phe514Cys) c.1472T>G (p.Phe491Cys) c.1463T>G (p.Phe488Cys) c.1373T>G (p.Phe458Cys) c.908T>G (p.Phe303Cys) c.206+2046T>G c.*939T>G (n.*939T>G) | gnomAD v4 |
| 14 | g.87945682A>G | CA10606606 | GALC | c.1541T>C (p.Phe514Ser) c.1472T>C (p.Phe491Ser) c.1463T>C (p.Phe488Ser) c.1373T>C (p.Phe458Ser) c.908T>C (p.Phe303Ser) c.206+2046T>C c.*939T>C (n.*939T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945682A>T | CA390746231 | GALC | c.1541T>A (p.Phe514Tyr) c.1472T>A (p.Phe491Tyr) c.1463T>A (p.Phe488Tyr) c.1373T>A (p.Phe458Tyr) c.908T>A (p.Phe303Tyr) c.206+2046T>A c.*939T>A (n.*939T>A) | |
| 14 | g.87945683A>C | CA390746232 | GALC | c.1540T>G (p.Phe514Val) c.1471T>G (p.Phe491Val) c.1462T>G (p.Phe488Val) c.1372T>G (p.Phe458Val) c.907T>G (p.Phe303Val) c.206+2045T>G c.*938T>G (n.*938T>G) | gnomAD v4 |
| 14 | g.87945683A>G | CA390746233 | GALC | c.1540T>C (p.Phe514Leu) c.1471T>C (p.Phe491Leu) c.1462T>C (p.Phe488Leu) c.1372T>C (p.Phe458Leu) c.907T>C (p.Phe303Leu) c.206+2045T>C c.*938T>C (n.*938T>C) | |
| 14 | g.87945683A>T | CA390746234 | GALC | c.1540T>A (p.Phe514Ile) c.1471T>A (p.Phe491Ile) c.1462T>A (p.Phe488Ile) c.1372T>A (p.Phe458Ile) c.907T>A (p.Phe303Ile) c.206+2045T>A c.*938T>A (n.*938T>A) | |
| 14 | g.87945684T>A | CA487355556 | GALC | c.1539A>T (p.Val513=) c.1470A>T (p.Val490=) c.1461A>T (p.Val487=) c.1371A>T (p.Val457=) c.906A>T (p.Val302=) c.206+2044A>T c.*937A>T (n.*937A>T) | |
| 14 | g.87945684T>C | CA487355557 | GALC | c.1539A>G (p.Val513=) c.1470A>G (p.Val490=) c.1461A>G (p.Val487=) c.1371A>G (p.Val457=) c.906A>G (p.Val302=) c.206+2044A>G c.*937A>G (n.*937A>G) | |
| 14 | g.87945684T>G | CA487355558 | GALC | c.1539A>C (p.Val513=) c.1470A>C (p.Val490=) c.1461A>C (p.Val487=) c.1371A>C (p.Val457=) c.906A>C (p.Val302=) c.206+2044A>C c.*937A>C (n.*937A>C) | |
| 14 | g.87945685A>C | CA390746237 | GALC | c.1538T>G (p.Val513Gly) c.1469T>G (p.Val490Gly) c.1460T>G (p.Val487Gly) c.1370T>G (p.Val457Gly) c.905T>G (p.Val302Gly) c.206+2043T>G c.*936T>G (n.*936T>G) | |
| 14 | g.87945685A>G | CA390746236 | GALC | c.1538T>C (p.Val513Ala) c.1469T>C (p.Val490Ala) c.1460T>C (p.Val487Ala) c.1370T>C (p.Val457Ala) c.905T>C (p.Val302Ala) c.206+2043T>C c.*936T>C (n.*936T>C) | |
| 14 | g.87945685A>T | CA390746235 | GALC | c.1538T>A (p.Val513Glu) c.1469T>A (p.Val490Glu) c.1460T>A (p.Val487Glu) c.1370T>A (p.Val457Glu) c.905T>A (p.Val302Glu) c.206+2043T>A c.*936T>A (n.*936T>A) | gnomAD v4 |
| 14 | g.87945686C>A | CA390746238 | GALC | c.1537G>T (p.Val513Leu) c.1468G>T (p.Val490Leu) c.1459G>T (p.Val487Leu) c.1369G>T (p.Val457Leu) c.904G>T (p.Val302Leu) c.206+2042G>T c.*935G>T (n.*935G>T) | |
| 14 | g.87945686C= | CA2153356933 | GALC | c.1537G= (p.Val513=) c.1468G= (p.Val490=) c.1459G= (p.Val487=) c.1369G= (p.Val457=) c.904G= (p.Val302=) c.206+2042G= c.*935G= (n.*935G=) | |
| 14 | g.87945686C>G | CA390746239 | GALC | c.1537G>C (p.Val513Leu) c.1468G>C (p.Val490Leu) c.1459G>C (p.Val487Leu) c.1369G>C (p.Val457Leu) c.904G>C (p.Val302Leu) c.206+2042G>C c.*935G>C (n.*935G>C) | |
| 14 | g.87945686C>T | CA264683758 | GALC | c.1537G>A (p.Val513Ile) c.1468G>A (p.Val490Ile) c.1459G>A (p.Val487Ile) c.1369G>A (p.Val457Ile) c.904G>A (p.Val302Ile) c.206+2042G>A c.*935G>A (n.*935G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87945687A>C | CA487355559 | GALC | c.1536T>G (p.Gly512=) c.1467T>G (p.Gly489=) c.1458T>G (p.Gly486=) c.1368T>G (p.Gly456=) c.903T>G (p.Gly301=) c.206+2041T>G c.*934T>G (n.*934T>G) | |
| 14 | g.87945687A>G | CA487355560 | GALC | c.1536T>C (p.Gly512=) c.1467T>C (p.Gly489=) c.1458T>C (p.Gly486=) c.1368T>C (p.Gly456=) c.903T>C (p.Gly301=) c.206+2041T>C c.*934T>C (n.*934T>C) | ClinVar gnomAD v4 |
| 14 | g.87945687A>T | CA487355561 | GALC | c.1536T>A (p.Gly512=) c.1467T>A (p.Gly489=) c.1458T>A (p.Gly486=) c.1368T>A (p.Gly456=) c.903T>A (p.Gly301=) c.206+2041T>A c.*934T>A (n.*934T>A) | |
| 14 | g.87945688C>A | CA390746240 | GALC | c.1535G>T (p.Gly512Val) c.1466G>T (p.Gly489Val) c.1457G>T (p.Gly486Val) c.1367G>T (p.Gly456Val) c.902G>T (p.Gly301Val) c.206+2040G>T c.*933G>T (n.*933G>T) | |
| 14 | g.87945688C= | CA2153356936 | GALC | c.1535G= (p.Gly512=) c.1466G= (p.Gly489=) c.1457G= (p.Gly486=) c.1367G= (p.Gly456=) c.902G= (p.Gly301=) c.206+2040G= c.*933G= (n.*933G=) | |
| 14 | g.87945688C>G | CA390746241 | GALC | c.1535G>C (p.Gly512Ala) c.1466G>C (p.Gly489Ala) c.1457G>C (p.Gly486Ala) c.1367G>C (p.Gly456Ala) c.902G>C (p.Gly301Ala) c.206+2040G>C c.*933G>C (n.*933G>C) | |
| 14 | g.87945688C>T | CA7296985 | GALC | c.1535G>A (p.Gly512Asp) c.1466G>A (p.Gly489Asp) c.1457G>A (p.Gly486Asp) c.1367G>A (p.Gly456Asp) c.902G>A (p.Gly301Asp) c.206+2040G>A c.*933G>A (n.*933G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945689C>A | CA390746242 | GALC | c.1534G>T (p.Gly512Cys) c.1465G>T (p.Gly489Cys) c.1456G>T (p.Gly486Cys) c.1366G>T (p.Gly456Cys) c.901G>T (p.Gly301Cys) c.206+2039G>T c.*932G>T (n.*932G>T) | |
| 14 | g.87945689C>G | CA390746243 | GALC | c.1534G>C (p.Gly512Arg) c.1465G>C (p.Gly489Arg) c.1456G>C (p.Gly486Arg) c.1366G>C (p.Gly456Arg) c.901G>C (p.Gly301Arg) c.206+2039G>C c.*932G>C (n.*932G>C) | |
| 14 | g.87945689C>T | CA390746244 | GALC | c.1534G>A (p.Gly512Ser) c.1465G>A (p.Gly489Ser) c.1456G>A (p.Gly486Ser) c.1366G>A (p.Gly456Ser) c.901G>A (p.Gly301Ser) c.206+2039G>A c.*932G>A (n.*932G>A) | gnomAD v4 |
| 14 | g.87945690A= | CA2153356940 | GALC | c.1533T= (p.Thr511=) c.1464T= (p.Thr488=) c.1455T= (p.Thr485=) c.1365T= (p.Thr455=) c.900T= (p.Thr300=) c.206+2038T= c.*931T= (n.*931T=) | |
| 14 | g.87945690A>C | CA487355562 | GALC | c.1533T>G (p.Thr511=) c.1464T>G (p.Thr488=) c.1455T>G (p.Thr485=) c.1365T>G (p.Thr455=) c.900T>G (p.Thr300=) c.206+2038T>G c.*931T>G (n.*931T>G) | |
| 14 | g.87945690A>G | CA487355563 | GALC | c.1533T>C (p.Thr511=) c.1464T>C (p.Thr488=) c.1455T>C (p.Thr485=) c.1365T>C (p.Thr455=) c.900T>C (p.Thr300=) c.206+2038T>C c.*931T>C (n.*931T>C) | |
| 14 | g.87945690A>T | CA7296986 | GALC | c.1533T>A (p.Thr511=) c.1464T>A (p.Thr488=) c.1455T>A (p.Thr485=) c.1365T>A (p.Thr455=) c.900T>A (p.Thr300=) c.206+2038T>A c.*931T>A (n.*931T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945691G>A | CA390746245 | GALC | c.1532C>T (p.Thr511Ile) c.1463C>T (p.Thr488Ile) c.1454C>T (p.Thr485Ile) c.1364C>T (p.Thr455Ile) c.899C>T (p.Thr300Ile) c.206+2037C>T c.*930C>T (n.*930C>T) | |
| 14 | g.87945691G>C | CA390746246 | GALC | c.1532C>G (p.Thr511Ser) c.1463C>G (p.Thr488Ser) c.1454C>G (p.Thr485Ser) c.1364C>G (p.Thr455Ser) c.899C>G (p.Thr300Ser) c.206+2037C>G c.*930C>G (n.*930C>G) | |
| 14 | g.87945691G>T | CA390746247 | GALC | c.1532C>A (p.Thr511Asn) c.1463C>A (p.Thr488Asn) c.1454C>A (p.Thr485Asn) c.1364C>A (p.Thr455Asn) c.899C>A (p.Thr300Asn) c.206+2037C>A c.*930C>A (n.*930C>A) | |
| 14 | g.87945692T>A | CA390746250 | GALC | c.1531A>T (p.Thr511Ser) c.1462A>T (p.Thr488Ser) c.1453A>T (p.Thr485Ser) c.1363A>T (p.Thr455Ser) c.898A>T (p.Thr300Ser) c.206+2036A>T c.*929A>T (n.*929A>T) | |
| 14 | g.87945692T>C | CA390746248 | GALC | c.1531A>G (p.Thr511Ala) c.1462A>G (p.Thr488Ala) c.1453A>G (p.Thr485Ala) c.1363A>G (p.Thr455Ala) c.898A>G (p.Thr300Ala) c.206+2036A>G c.*929A>G (n.*929A>G) | |
| 14 | g.87945692T>G | CA390746249 | GALC | c.1531A>C (p.Thr511Pro) c.1462A>C (p.Thr488Pro) c.1453A>C (p.Thr485Pro) c.1363A>C (p.Thr455Pro) c.898A>C (p.Thr300Pro) c.206+2036A>C c.*929A>C (n.*929A>C) | |
| 14 | g.87945694del | CA2573053947 | GALC | c.1531del (p.Thr511LeufsTer?) c.1462del (p.Thr488LeufsTer?) c.1453del (p.Thr485LeufsTer?) c.1363del (p.Thr455LeufsTer?) c.898del (p.Thr300LeufsTer?) c.206+2036del c.*929del (n.*929del) | ClinVar dbSNP |
| 14 | g.87945693T>A | CA390746251 | GALC | c.1530A>T (p.Gln510His) c.1461A>T (p.Gln487His) c.1452A>T (p.Gln484His) c.1362A>T (p.Gln454His) c.897A>T (p.Gln299His) c.206+2035A>T c.*928A>T (n.*928A>T) | |
| 14 | g.87945693T>C | CA487355565 | GALC | c.1530A>G (p.Gln510=) c.1461A>G (p.Gln487=) c.1452A>G (p.Gln484=) c.1362A>G (p.Gln454=) c.897A>G (p.Gln299=) c.206+2035A>G c.*928A>G (n.*928A>G) | |
| 14 | g.87945693T>G | CA390746252 | GALC | c.1530A>C (p.Gln510His) c.1461A>C (p.Gln487His) c.1452A>C (p.Gln484His) c.1362A>C (p.Gln454His) c.897A>C (p.Gln299His) c.206+2035A>C c.*928A>C (n.*928A>C) | |
| 14 | g.87945694T>A | CA390746253 | GALC | c.1529A>T (p.Gln510Leu) c.1460A>T (p.Gln487Leu) c.1451A>T (p.Gln484Leu) c.1361A>T (p.Gln454Leu) c.896A>T (p.Gln299Leu) c.206+2034A>T c.*927A>T (n.*927A>T) | |
| 14 | g.87945694T>C | CA390746254 | GALC | c.1529A>G (p.Gln510Arg) c.1460A>G (p.Gln487Arg) c.1451A>G (p.Gln484Arg) c.1361A>G (p.Gln454Arg) c.896A>G (p.Gln299Arg) c.206+2034A>G c.*927A>G (n.*927A>G) | |
| 14 | g.87945694T>G | CA390746255 | GALC | c.1529A>C (p.Gln510Pro) c.1460A>C (p.Gln487Pro) c.1451A>C (p.Gln484Pro) c.1361A>C (p.Gln454Pro) c.896A>C (p.Gln299Pro) c.206+2034A>C c.*927A>C (n.*927A>C) | |
| 14 | g.87945695G>A | CA390746256 | GALC | c.1528C>T (p.Gln510Ter) c.1459C>T (p.Gln487Ter) c.1450C>T (p.Gln484Ter) c.1360C>T (p.Gln454Ter) c.895C>T (p.Gln299Ter) c.206+2033C>T c.*926C>T (n.*926C>T) | |
| 14 | g.87945695G>C | CA390746257 | GALC | c.1528C>G (p.Gln510Glu) c.1459C>G (p.Gln487Glu) c.1450C>G (p.Gln484Glu) c.1360C>G (p.Gln454Glu) c.895C>G (p.Gln299Glu) c.206+2033C>G c.*926C>G (n.*926C>G) | dbSNP gnomAD v2 |
| 14 | g.87945695G= | CA2153356944 | GALC | c.1528C= (p.Gln510=) c.1459C= (p.Gln487=) c.1450C= (p.Gln484=) c.1360C= (p.Gln454=) c.895C= (p.Gln299=) c.206+2033C= c.*926C= (n.*926C=) | |
| 14 | g.87945695G>T | CA390746258 | GALC | c.1528C>A (p.Gln510Lys) c.1459C>A (p.Gln487Lys) c.1450C>A (p.Gln484Lys) c.1360C>A (p.Gln454Lys) c.895C>A (p.Gln299Lys) c.206+2033C>A c.*926C>A (n.*926C>A) | dbSNP gnomAD v4 |
| 14 | g.87945696A>C | CA390746259 | GALC | c.1527T>G (p.Asp509Glu) c.1458T>G (p.Asp486Glu) c.1449T>G (p.Asp483Glu) c.1359T>G (p.Asp453Glu) c.894T>G (p.Asp298Glu) c.206+2032T>G c.*925T>G (n.*925T>G) | |
| 14 | g.87945696A>G | CA487355567 | GALC | c.1527T>C (p.Asp509=) c.1458T>C (p.Asp486=) c.1449T>C (p.Asp483=) c.1359T>C (p.Asp453=) c.894T>C (p.Asp298=) c.206+2032T>C c.*925T>C (n.*925T>C) | |
| 14 | g.87945696A>T | CA390746260 | GALC | c.1527T>A (p.Asp509Glu) c.1458T>A (p.Asp486Glu) c.1449T>A (p.Asp483Glu) c.1359T>A (p.Asp453Glu) c.894T>A (p.Asp298Glu) c.206+2032T>A c.*925T>A (n.*925T>A) | |
| 14 | g.87945697T>A | CA390746261 | GALC | c.1526A>T (p.Asp509Val) c.1457A>T (p.Asp486Val) c.1448A>T (p.Asp483Val) c.1358A>T (p.Asp453Val) c.893A>T (p.Asp298Val) c.206+2031A>T c.*924A>T (n.*924A>T) | |
| 14 | g.87945697T>C | CA390746262 | GALC | c.1526A>G (p.Asp509Gly) c.1457A>G (p.Asp486Gly) c.1448A>G (p.Asp483Gly) c.1358A>G (p.Asp453Gly) c.893A>G (p.Asp298Gly) c.206+2031A>G c.*924A>G (n.*924A>G) | gnomAD v4 |
| 14 | g.87945697T>G | CA390746263 | GALC | c.1526A>C (p.Asp509Ala) c.1457A>C (p.Asp486Ala) c.1448A>C (p.Asp483Ala) c.1358A>C (p.Asp453Ala) c.893A>C (p.Asp298Ala) c.206+2031A>C c.*924A>C (n.*924A>C) | |
| 14 | g.87945698C>A | CA390746265 | GALC | c.1525G>T (p.Asp509Tyr) c.1456G>T (p.Asp486Tyr) c.1447G>T (p.Asp483Tyr) c.1357G>T (p.Asp453Tyr) c.892G>T (p.Asp298Tyr) c.206+2030G>T c.*923G>T (n.*923G>T) | |
| 14 | g.87945698C>G | CA390746266 | GALC | c.1525G>C (p.Asp509His) c.1456G>C (p.Asp486His) c.1447G>C (p.Asp483His) c.1357G>C (p.Asp453His) c.892G>C (p.Asp298His) c.206+2030G>C c.*923G>C (n.*923G>C) | |
| 14 | g.87945698C>T | CA390746264 | GALC | c.1525G>A (p.Asp509Asn) c.1456G>A (p.Asp486Asn) c.1447G>A (p.Asp483Asn) c.1357G>A (p.Asp453Asn) c.892G>A (p.Asp298Asn) c.206+2030G>A c.*923G>A (n.*923G>A) | |
| 14 | g.87945699A>C | CA487355570 | GALC | c.1524T>G (p.Ala508=) c.1455T>G (p.Ala485=) c.1446T>G (p.Ala482=) c.1356T>G (p.Ala452=) c.891T>G (p.Ala297=) c.206+2029T>G c.*922T>G (n.*922T>G) | |
| 14 | g.87945699A>G | CA487355569 | GALC | c.1524T>C (p.Ala508=) c.1455T>C (p.Ala485=) c.1446T>C (p.Ala482=) c.1356T>C (p.Ala452=) c.891T>C (p.Ala297=) c.206+2029T>C c.*922T>C (n.*922T>C) | |
| 14 | g.87945699A>T | CA487355568 | GALC | c.1524T>A (p.Ala508=) c.1455T>A (p.Ala485=) c.1446T>A (p.Ala482=) c.1356T>A (p.Ala452=) c.891T>A (p.Ala297=) c.206+2029T>A c.*922T>A (n.*922T>A) | |
| 14 | g.87945700G>A | CA390746268 | GALC | c.1523C>T (p.Ala508Val) c.1454C>T (p.Ala485Val) c.1445C>T (p.Ala482Val) c.1355C>T (p.Ala452Val) c.890C>T (p.Ala297Val) c.206+2028C>T c.*921C>T (n.*921C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87945700G>C | CA390746267 | GALC | c.1523C>G (p.Ala508Gly) c.1454C>G (p.Ala485Gly) c.1445C>G (p.Ala482Gly) c.1355C>G (p.Ala452Gly) c.890C>G (p.Ala297Gly) c.206+2028C>G c.*921C>G (n.*921C>G) | |
| 14 | g.87945700G>T | CA390746269 | GALC | c.1523C>A (p.Ala508Asp) c.1454C>A (p.Ala485Asp) c.1445C>A (p.Ala482Asp) c.1355C>A (p.Ala452Asp) c.890C>A (p.Ala297Asp) c.206+2028C>A c.*921C>A (n.*921C>A) | |
| 14 | g.87945701C>A | CA390746270 | GALC | c.1522G>T (p.Ala508Ser) c.1453G>T (p.Ala485Ser) c.1444G>T (p.Ala482Ser) c.1354G>T (p.Ala452Ser) c.889G>T (p.Ala297Ser) c.206+2027G>T c.*920G>T (n.*920G>T) | gnomAD v4 |
| 14 | g.87945701C>G | CA390746271 | GALC | c.1522G>C (p.Ala508Pro) c.1453G>C (p.Ala485Pro) c.1444G>C (p.Ala482Pro) c.1354G>C (p.Ala452Pro) c.889G>C (p.Ala297Pro) c.206+2027G>C c.*920G>C (n.*920G>C) | |
| 14 | g.87945701C>T | CA390746272 | GALC | c.1522G>A (p.Ala508Thr) c.1453G>A (p.Ala485Thr) c.1444G>A (p.Ala482Thr) c.1354G>A (p.Ala452Thr) c.889G>A (p.Ala297Thr) c.206+2027G>A c.*920G>A (n.*920G>A) | |
| 14 | g.87945702A= | CA2153356949 | GALC | c.1521T= (p.Phe507=) c.1452T= (p.Phe484=) c.1443T= (p.Phe481=) c.1353T= (p.Phe451=) c.888T= (p.Phe296=) c.206+2026T= c.*919T= (n.*919T=) | |
| 14 | g.87945702A>C | CA390746273 | GALC | c.1521T>G (p.Phe507Leu) c.1452T>G (p.Phe484Leu) c.1443T>G (p.Phe481Leu) c.1353T>G (p.Phe451Leu) c.888T>G (p.Phe296Leu) c.206+2026T>G c.*919T>G (n.*919T>G) | |
| 14 | g.87945702A>G | CA7296987 | GALC | c.1521T>C (p.Phe507=) c.1452T>C (p.Phe484=) c.1443T>C (p.Phe481=) c.1353T>C (p.Phe451=) c.888T>C (p.Phe296=) c.206+2026T>C c.*919T>C (n.*919T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945702A>T | CA390746274 | GALC | c.1521T>A (p.Phe507Leu) c.1452T>A (p.Phe484Leu) c.1443T>A (p.Phe481Leu) c.1353T>A (p.Phe451Leu) c.888T>A (p.Phe296Leu) c.206+2026T>A c.*919T>A (n.*919T>A) | |
| 14 | g.87945703A>C | CA390746275 | GALC | c.1520T>G (p.Phe507Cys) c.1451T>G (p.Phe484Cys) c.1442T>G (p.Phe481Cys) c.1352T>G (p.Phe451Cys) c.887T>G (p.Phe296Cys) c.206+2025T>G c.*918T>G (n.*918T>G) | |
| 14 | g.87945703A>G | CA390746276 | GALC | c.1520T>C (p.Phe507Ser) c.1451T>C (p.Phe484Ser) c.1442T>C (p.Phe481Ser) c.1352T>C (p.Phe451Ser) c.887T>C (p.Phe296Ser) c.206+2025T>C c.*918T>C (n.*918T>C) | |
| 14 | g.87945703A>T | CA390746277 | GALC | c.1520T>A (p.Phe507Tyr) c.1451T>A (p.Phe484Tyr) c.1442T>A (p.Phe481Tyr) c.1352T>A (p.Phe451Tyr) c.887T>A (p.Phe296Tyr) c.206+2025T>A c.*918T>A (n.*918T>A) | |
| 14 | g.87945704A= | CA2153356957 | GALC | c.1519T= (p.Phe507=) c.1450T= (p.Phe484=) c.1441T= (p.Phe481=) c.1351T= (p.Phe451=) c.886T= (p.Phe296=) c.206+2024T= c.*917T= (n.*917T=) | |
| 14 | g.87945704A>C | CA390746278 | GALC | c.1519T>G (p.Phe507Val) c.1450T>G (p.Phe484Val) c.1441T>G (p.Phe481Val) c.1351T>G (p.Phe451Val) c.886T>G (p.Phe296Val) c.206+2024T>G c.*917T>G (n.*917T>G) | |
| 14 | g.87945704A>G | CA390746279 | GALC | c.1519T>C (p.Phe507Leu) c.1450T>C (p.Phe484Leu) c.1441T>C (p.Phe481Leu) c.1351T>C (p.Phe451Leu) c.886T>C (p.Phe296Leu) c.206+2024T>C c.*917T>C (n.*917T>C) | ClinVar dbSNP |
| 14 | g.87945704A>T | CA390746280 | GALC | c.1519T>A (p.Phe507Ile) c.1450T>A (p.Phe484Ile) c.1441T>A (p.Phe481Ile) c.1351T>A (p.Phe451Ile) c.886T>A (p.Phe296Ile) c.206+2024T>A c.*917T>A (n.*917T>A) | |
| 14 | g.87945705G>A | CA487355571 | GALC | c.1518C>T (p.Asn506=) c.1449C>T (p.Asn483=) c.1440C>T (p.Asn480=) c.1350C>T (p.Asn450=) c.885C>T (p.Asn295=) c.206+2023C>T c.*916C>T (n.*916C>T) | |
| 14 | g.87945705G>C | CA390746282 | GALC | c.1518C>G (p.Asn506Lys) c.1449C>G (p.Asn483Lys) c.1440C>G (p.Asn480Lys) c.1350C>G (p.Asn450Lys) c.885C>G (p.Asn295Lys) c.206+2023C>G c.*916C>G (n.*916C>G) | |
| 14 | g.87945705G>T | CA390746281 | GALC | c.1518C>A (p.Asn506Lys) c.1449C>A (p.Asn483Lys) c.1440C>A (p.Asn480Lys) c.1350C>A (p.Asn450Lys) c.885C>A (p.Asn295Lys) c.206+2023C>A c.*916C>A (n.*916C>A) | |
| 14 | g.87945706T>A | CA390746283 | GALC | c.1517A>T (p.Asn506Ile) c.1448A>T (p.Asn483Ile) c.1439A>T (p.Asn480Ile) c.1349A>T (p.Asn450Ile) c.884A>T (p.Asn295Ile) c.206+2022A>T c.*915A>T (n.*915A>T) | |
| 14 | g.87945706T>C | CA390746284 | GALC | c.1517A>G (p.Asn506Ser) c.1448A>G (p.Asn483Ser) c.1439A>G (p.Asn480Ser) c.1349A>G (p.Asn450Ser) c.884A>G (p.Asn295Ser) c.206+2022A>G c.*915A>G (n.*915A>G) | |
| 14 | g.87945706T>G | CA390746285 | GALC | c.1517A>C (p.Asn506Thr) c.1448A>C (p.Asn483Thr) c.1439A>C (p.Asn480Thr) c.1349A>C (p.Asn450Thr) c.884A>C (p.Asn295Thr) c.206+2022A>C c.*915A>C (n.*915A>C) | |
| 14 | g.87945707T>A | CA390746286 | GALC | c.1516A>T (p.Asn506Tyr) c.1447A>T (p.Asn483Tyr) c.1438A>T (p.Asn480Tyr) c.1348A>T (p.Asn450Tyr) c.883A>T (p.Asn295Tyr) c.206+2021A>T c.*914A>T (n.*914A>T) | |
| 14 | g.87945707T>C | CA390746287 | GALC | c.1516A>G (p.Asn506Asp) c.1447A>G (p.Asn483Asp) c.1438A>G (p.Asn480Asp) c.1348A>G (p.Asn450Asp) c.883A>G (p.Asn295Asp) c.206+2021A>G c.*914A>G (n.*914A>G) | |
| 14 | g.87945707T>G | CA390746288 | GALC | c.1516A>C (p.Asn506His) c.1447A>C (p.Asn483His) c.1438A>C (p.Asn480His) c.1348A>C (p.Asn450His) c.883A>C (p.Asn295His) c.206+2021A>C c.*914A>C (n.*914A>C) | |
| 14 | g.87945708T>A | CA487355572 | GALC | c.1515A>T (p.Pro505=) c.1446A>T (p.Pro482=) c.1437A>T (p.Pro479=) c.1347A>T (p.Pro449=) c.882A>T (p.Pro294=) c.206+2020A>T c.*913A>T (n.*913A>T) | |
| 14 | g.87945708T>C | CA487355573 | GALC | c.1515A>G (p.Pro505=) c.1446A>G (p.Pro482=) c.1437A>G (p.Pro479=) c.1347A>G (p.Pro449=) c.882A>G (p.Pro294=) c.206+2020A>G c.*913A>G (n.*913A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87945708T>G | CA487355574 | GALC | c.1515A>C (p.Pro505=) c.1446A>C (p.Pro482=) c.1437A>C (p.Pro479=) c.1347A>C (p.Pro449=) c.882A>C (p.Pro294=) c.206+2020A>C c.*913A>C (n.*913A>C) | |
| 14 | g.87945708T= | CA2153356960 | GALC | c.1515A= (p.Pro505=) c.1446A= (p.Pro482=) c.1437A= (p.Pro479=) c.1347A= (p.Pro449=) c.882A= (p.Pro294=) c.206+2020A= c.*913A= (n.*913A=) | |
| 14 | g.87945709G>A | CA390746289 | GALC | c.1514C>T (p.Pro505Leu) c.1445C>T (p.Pro482Leu) c.1436C>T (p.Pro479Leu) c.1346C>T (p.Pro449Leu) c.881C>T (p.Pro294Leu) c.206+2019C>T c.*912C>T (n.*912C>T) | |
| 14 | g.87945709G>C | CA390746290 | GALC | c.1514C>G (p.Pro505Arg) c.1445C>G (p.Pro482Arg) c.1436C>G (p.Pro479Arg) c.1346C>G (p.Pro449Arg) c.881C>G (p.Pro294Arg) c.206+2019C>G c.*912C>G (n.*912C>G) | |
| 14 | g.87945709G>T | CA390746291 | GALC | c.1514C>A (p.Pro505Gln) c.1445C>A (p.Pro482Gln) c.1436C>A (p.Pro479Gln) c.1346C>A (p.Pro449Gln) c.881C>A (p.Pro294Gln) c.206+2019C>A c.*912C>A (n.*912C>A) | |
| 14 | g.87945710G>A | CA390746292 | GALC | c.1513C>T (p.Pro505Ser) c.1444C>T (p.Pro482Ser) c.1435C>T (p.Pro479Ser) c.1345C>T (p.Pro449Ser) c.880C>T (p.Pro294Ser) c.206+2018C>T c.*911C>T (n.*911C>T) | gnomAD v4 |
| 14 | g.87945710G>C | CA390746293 | GALC | c.1513C>G (p.Pro505Ala) c.1444C>G (p.Pro482Ala) c.1435C>G (p.Pro479Ala) c.1345C>G (p.Pro449Ala) c.880C>G (p.Pro294Ala) c.206+2018C>G c.*911C>G (n.*911C>G) | dbSNP |
| 14 | g.87945710G= | CA2153356964 | GALC | c.1513C= (p.Pro505=) c.1444C= (p.Pro482=) c.1435C= (p.Pro479=) c.1345C= (p.Pro449=) c.880C= (p.Pro294=) c.206+2018C= c.*911C= (n.*911C=) | |
| 14 | g.87945710G>T | CA390746294 | GALC | c.1513C>A (p.Pro505Thr) c.1444C>A (p.Pro482Thr) c.1435C>A (p.Pro479Thr) c.1345C>A (p.Pro449Thr) c.880C>A (p.Pro294Thr) c.206+2018C>A c.*911C>A (n.*911C>A) | gnomAD v4 |
| 14 | g.87945711A>C | CA487355575 | GALC | c.1512T>G (p.Ala504=) c.1443T>G (p.Ala481=) c.1434T>G (p.Ala478=) c.1344T>G (p.Ala448=) c.879T>G (p.Ala293=) c.206+2017T>G c.*910T>G (n.*910T>G) | |
| 14 | g.87945711A>G | CA487355576 | GALC | c.1512T>C (p.Ala504=) c.1443T>C (p.Ala481=) c.1434T>C (p.Ala478=) c.1344T>C (p.Ala448=) c.879T>C (p.Ala293=) c.206+2017T>C c.*910T>C (n.*910T>C) | |
| 14 | g.87945711A>T | CA487355577 | GALC | c.1512T>A (p.Ala504=) c.1443T>A (p.Ala481=) c.1434T>A (p.Ala478=) c.1344T>A (p.Ala448=) c.879T>A (p.Ala293=) c.206+2017T>A c.*910T>A (n.*910T>A) | |
| 14 | g.87945712G>A | CA390746296 | GALC | c.1511C>T (p.Ala504Val) c.1442C>T (p.Ala481Val) c.1433C>T (p.Ala478Val) c.1343C>T (p.Ala448Val) c.878C>T (p.Ala293Val) c.206+2016C>T c.*909C>T (n.*909C>T) | |
| 14 | g.87945712G>C | CA390746297 | GALC | c.1511C>G (p.Ala504Gly) c.1442C>G (p.Ala481Gly) c.1433C>G (p.Ala478Gly) c.1343C>G (p.Ala448Gly) c.878C>G (p.Ala293Gly) c.206+2016C>G c.*909C>G (n.*909C>G) | |
| 14 | g.87945712G>T | CA390746295 | GALC | c.1511C>A (p.Ala504Asp) c.1442C>A (p.Ala481Asp) c.1433C>A (p.Ala478Asp) c.1343C>A (p.Ala448Asp) c.878C>A (p.Ala293Asp) c.206+2016C>A c.*909C>A (n.*909C>A) | |
| 14 | g.87945713C>A | CA7296988 | GALC | c.1510G>T (p.Ala504Ser) c.1441G>T (p.Ala481Ser) c.1432G>T (p.Ala478Ser) c.1342G>T (p.Ala448Ser) c.877G>T (p.Ala293Ser) c.206+2015G>T c.*908G>T (n.*908G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945713C= | CA2153356967 | GALC | c.1510G= (p.Ala504=) c.1441G= (p.Ala481=) c.1432G= (p.Ala478=) c.1342G= (p.Ala448=) c.877G= (p.Ala293=) c.206+2015G= c.*908G= (n.*908G=) | |
| 14 | g.87945713C>G | CA390746298 | GALC | c.1510G>C (p.Ala504Pro) c.1441G>C (p.Ala481Pro) c.1432G>C (p.Ala478Pro) c.1342G>C (p.Ala448Pro) c.877G>C (p.Ala293Pro) c.206+2015G>C c.*908G>C (n.*908G>C) | |
| 14 | g.87945713C>T | CA390746299 | GALC | c.1510G>A (p.Ala504Thr) c.1441G>A (p.Ala481Thr) c.1432G>A (p.Ala478Thr) c.1342G>A (p.Ala448Thr) c.877G>A (p.Ala293Thr) c.206+2015G>A c.*908G>A (n.*908G>A) | |
| 14 | g.87945714T>A | CA390746300 | GALC | c.1509A>T (p.Glu503Asp) c.1440A>T (p.Glu480Asp) c.1431A>T (p.Glu477Asp) c.1341A>T (p.Glu447Asp) c.876A>T (p.Glu292Asp) c.206+2014A>T c.*907A>T (n.*907A>T) | |
| 14 | g.87945714T>C | CA487355578 | GALC | c.1509A>G (p.Glu503=) c.1440A>G (p.Glu480=) c.1431A>G (p.Glu477=) c.1341A>G (p.Glu447=) c.876A>G (p.Glu292=) c.206+2014A>G c.*907A>G (n.*907A>G) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87945714T>G | CA390746301 | GALC | c.1509A>C (p.Glu503Asp) c.1440A>C (p.Glu480Asp) c.1431A>C (p.Glu477Asp) c.1341A>C (p.Glu447Asp) c.876A>C (p.Glu292Asp) c.206+2014A>C c.*907A>C (n.*907A>C) | |
| 14 | g.87945715T>A | CA390746302 | GALC | c.1508A>T (p.Glu503Val) c.1439A>T (p.Glu480Val) c.1430A>T (p.Glu477Val) c.1340A>T (p.Glu447Val) c.875A>T (p.Glu292Val) c.206+2013A>T c.*906A>T (n.*906A>T) | |
| 14 | g.87945715T>C | CA390746303 | GALC | c.1508A>G (p.Glu503Gly) c.1439A>G (p.Glu480Gly) c.1430A>G (p.Glu477Gly) c.1340A>G (p.Glu447Gly) c.875A>G (p.Glu292Gly) c.206+2013A>G c.*906A>G (n.*906A>G) | |
| 14 | g.87945715T>G | CA390746304 | GALC | c.1508A>C (p.Glu503Ala) c.1439A>C (p.Glu480Ala) c.1430A>C (p.Glu477Ala) c.1340A>C (p.Glu447Ala) c.875A>C (p.Glu292Ala) c.206+2013A>C c.*906A>C (n.*906A>C) | |
| 14 | g.87945716C>A | CA390746305 | GALC | c.1507G>T (p.Glu503Ter) c.1438G>T (p.Glu480Ter) c.1429G>T (p.Glu477Ter) c.1339G>T (p.Glu447Ter) c.874G>T (p.Glu292Ter) c.206+2012G>T c.*905G>T (n.*905G>T) | ClinVar dbSNP gnomAD v2 |
| 14 | g.87945716C= | CA2153356971 | GALC | c.1507G= (p.Glu503=) c.1438G= (p.Glu480=) c.1429G= (p.Glu477=) c.1339G= (p.Glu447=) c.874G= (p.Glu292=) c.206+2012G= c.*905G= (n.*905G=) | |
| 14 | g.87945716C>G | CA390746306 | GALC | c.1507G>C (p.Glu503Gln) c.1438G>C (p.Glu480Gln) c.1429G>C (p.Glu477Gln) c.1339G>C (p.Glu447Gln) c.874G>C (p.Glu292Gln) c.206+2012G>C c.*905G>C (n.*905G>C) | |
| 14 | g.87945716C>T | CA390746307 | GALC | c.1507G>A (p.Glu503Lys) c.1438G>A (p.Glu480Lys) c.1429G>A (p.Glu477Lys) c.1339G>A (p.Glu447Lys) c.874G>A (p.Glu292Lys) c.206+2012G>A c.*905G>A (n.*905G>A) | |
| 14 | g.87945717A>C | CA390746308 | GALC | c.1506T>G (p.Ser502Arg) c.1437T>G (p.Ser479Arg) c.1428T>G (p.Ser476Arg) c.1338T>G (p.Ser446Arg) c.873T>G (p.Ser291Arg) c.206+2011T>G c.*904T>G (n.*904T>G) | |
| 14 | g.87945717A>G | CA487355579 | GALC | c.1506T>C (p.Ser502=) c.1437T>C (p.Ser479=) c.1428T>C (p.Ser476=) c.1338T>C (p.Ser446=) c.873T>C (p.Ser291=) c.206+2011T>C c.*904T>C (n.*904T>C) | ClinVar dbSNP |
| 14 | g.87945717A>T | CA390746309 | GALC | c.1506T>A (p.Ser502Arg) c.1437T>A (p.Ser479Arg) c.1428T>A (p.Ser476Arg) c.1338T>A (p.Ser446Arg) c.873T>A (p.Ser291Arg) c.206+2011T>A c.*904T>A (n.*904T>A) | |
| 14 | g.87945718C>A | CA390746311 | GALC | c.1505G>T (p.Ser502Ile) c.1436G>T (p.Ser479Ile) c.1427G>T (p.Ser476Ile) c.1337G>T (p.Ser446Ile) c.872G>T (p.Ser291Ile) c.206+2010G>T c.*903G>T (n.*903G>T) | |
| 14 | g.87945718C= | CA2153356973 | GALC | c.1505G= (p.Ser502=) c.1436G= (p.Ser479=) c.1427G= (p.Ser476=) c.1337G= (p.Ser446=) c.872G= (p.Ser291=) c.206+2010G= c.*903G= (n.*903G=) | |
| 14 | g.87945718C>G | CA7296989 | GALC | c.1505G>C (p.Ser502Thr) c.1436G>C (p.Ser479Thr) c.1427G>C (p.Ser476Thr) c.1337G>C (p.Ser446Thr) c.872G>C (p.Ser291Thr) c.206+2010G>C c.*903G>C (n.*903G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.87945718C>T | CA390746310 | GALC | c.1505G>A (p.Ser502Asn) c.1436G>A (p.Ser479Asn) c.1427G>A (p.Ser476Asn) c.1337G>A (p.Ser446Asn) c.872G>A (p.Ser291Asn) c.206+2010G>A c.*903G>A (n.*903G>A) | gnomAD v4 |
| 14 | g.87945719T>A | CA390746312 | GALC | c.1504A>T (p.Ser502Cys) c.1435A>T (p.Ser479Cys) c.1426A>T (p.Ser476Cys) c.1336A>T (p.Ser446Cys) c.871A>T (p.Ser291Cys) c.206+2009A>T c.*902A>T (n.*902A>T) | |
| 14 | g.87945719T>C | CA390746313 | GALC | c.1504A>G (p.Ser502Gly) c.1435A>G (p.Ser479Gly) c.1426A>G (p.Ser476Gly) c.1336A>G (p.Ser446Gly) c.871A>G (p.Ser291Gly) c.206+2009A>G c.*902A>G (n.*902A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945719T>G | CA390746314 | GALC | c.1504A>C (p.Ser502Arg) c.1435A>C (p.Ser479Arg) c.1426A>C (p.Ser476Arg) c.1336A>C (p.Ser446Arg) c.871A>C (p.Ser291Arg) c.206+2009A>C c.*902A>C (n.*902A>C) | |
| 14 | g.87945719T= | CA2153356978 | GALC | c.1504A= (p.Ser502=) c.1435A= (p.Ser479=) c.1426A= (p.Ser476=) c.1336A= (p.Ser446=) c.871A= (p.Ser291=) c.206+2009A= c.*902A= (n.*902A=) | |
| 14 | g.87945720A>C | CA390746315 | GALC | c.1503T>G (p.Phe501Leu) c.1434T>G (p.Phe478Leu) c.1425T>G (p.Phe475Leu) c.1335T>G (p.Phe445Leu) c.870T>G (p.Phe290Leu) c.206+2008T>G c.*901T>G (n.*901T>G) | |
| 14 | g.87945720A>G | CA487355580 | GALC | c.1503T>C (p.Phe501=) c.1434T>C (p.Phe478=) c.1425T>C (p.Phe475=) c.1335T>C (p.Phe445=) c.870T>C (p.Phe290=) c.206+2008T>C c.*901T>C (n.*901T>C) | |
| 14 | g.87945720A>T | CA390746316 | GALC | c.1503T>A (p.Phe501Leu) c.1434T>A (p.Phe478Leu) c.1425T>A (p.Phe475Leu) c.1335T>A (p.Phe445Leu) c.870T>A (p.Phe290Leu) c.206+2008T>A c.*901T>A (n.*901T>A) | |
| 14 | g.87945725del | CA645581079 | GALC | c.1503del (p.Phe501LeufsTer?) c.1434del (p.Phe478LeufsTer?) c.1425del (p.Phe475LeufsTer?) c.1335del (p.Phe445LeufsTer?) c.870del (p.Phe290LeufsTer?) c.206+2008del c.*901del (n.*901del) | gnomAD v4 COSMIC COSMIC |
| 14 | g.87945721A>C | CA390746317 | GALC | c.1502T>G (p.Phe501Cys) c.1433T>G (p.Phe478Cys) c.1424T>G (p.Phe475Cys) c.1334T>G (p.Phe445Cys) c.869T>G (p.Phe290Cys) c.206+2007T>G c.*900T>G (n.*900T>G) | |
| 14 | g.87945721A>G | CA390746318 | GALC | c.1502T>C (p.Phe501Ser) c.1433T>C (p.Phe478Ser) c.1424T>C (p.Phe475Ser) c.1334T>C (p.Phe445Ser) c.869T>C (p.Phe290Ser) c.206+2007T>C c.*900T>C (n.*900T>C) | |
| 14 | g.87945721A>T | CA390746319 | GALC | c.1502T>A (p.Phe501Tyr) c.1433T>A (p.Phe478Tyr) c.1424T>A (p.Phe475Tyr) c.1334T>A (p.Phe445Tyr) c.869T>A (p.Phe290Tyr) c.206+2007T>A c.*900T>A (n.*900T>A) | |
| 14 | g.87945722A>C | CA390746320 | GALC | c.1501T>G (p.Phe501Val) c.1432T>G (p.Phe478Val) c.1423T>G (p.Phe475Val) c.1333T>G (p.Phe445Val) c.868T>G (p.Phe290Val) c.206+2006T>G c.*899T>G (n.*899T>G) | |
| 14 | g.87945722A>G | CA390746321 | GALC | c.1501T>C (p.Phe501Leu) c.1432T>C (p.Phe478Leu) c.1423T>C (p.Phe475Leu) c.1333T>C (p.Phe445Leu) c.868T>C (p.Phe290Leu) c.206+2006T>C c.*899T>C (n.*899T>C) | |
| 14 | g.87945722A>T | CA390746322 | GALC | c.1501T>A (p.Phe501Ile) c.1432T>A (p.Phe478Ile) c.1423T>A (p.Phe475Ile) c.1333T>A (p.Phe445Ile) c.868T>A (p.Phe290Ile) c.206+2006T>A c.*899T>A (n.*899T>A) | |
| 14 | g.87945723A= | CA2153356983 | GALC | c.1500T= (p.Phe500=) c.1431T= (p.Phe477=) c.1422T= (p.Phe474=) c.1332T= (p.Phe444=) c.867T= (p.Phe289=) c.206+2005T= c.*898T= (n.*898T=) | |
| 14 | g.87945723A>C | CA390746323 | GALC | c.1500T>G (p.Phe500Leu) c.1431T>G (p.Phe477Leu) c.1422T>G (p.Phe474Leu) c.1332T>G (p.Phe444Leu) c.867T>G (p.Phe289Leu) c.206+2005T>G c.*898T>G (n.*898T>G) | dbSNP gnomAD v4 |
| 14 | g.87945723A>G | CA487355582 | GALC | c.1500T>C (p.Phe500=) c.1431T>C (p.Phe477=) c.1422T>C (p.Phe474=) c.1332T>C (p.Phe444=) c.867T>C (p.Phe289=) c.206+2005T>C c.*898T>C (n.*898T>C) | |
| 14 | g.87945723A>T | CA390746324 | GALC | c.1500T>A (p.Phe500Leu) c.1431T>A (p.Phe477Leu) c.1422T>A (p.Phe474Leu) c.1332T>A (p.Phe444Leu) c.867T>A (p.Phe289Leu) c.206+2005T>A c.*898T>A (n.*898T>A) | |
| 14 | g.87945724A>C | CA390746327 | GALC | c.1499T>G (p.Phe500Cys) c.1430T>G (p.Phe477Cys) c.1421T>G (p.Phe474Cys) c.1331T>G (p.Phe444Cys) c.866T>G (p.Phe289Cys) c.206+2004T>G c.*897T>G (n.*897T>G) | |
| 14 | g.87945724A>G | CA390746326 | GALC | c.1499T>C (p.Phe500Ser) c.1430T>C (p.Phe477Ser) c.1421T>C (p.Phe474Ser) c.1331T>C (p.Phe444Ser) c.866T>C (p.Phe289Ser) c.206+2004T>C c.*897T>C (n.*897T>C) | |
| 14 | g.87945724A>T | CA390746325 | GALC | c.1499T>A (p.Phe500Tyr) c.1430T>A (p.Phe477Tyr) c.1421T>A (p.Phe474Tyr) c.1331T>A (p.Phe444Tyr) c.866T>A (p.Phe289Tyr) c.206+2004T>A c.*897T>A (n.*897T>A) | |
| 14 | g.87945725A>C | CA390746328 | GALC | c.1498T>G (p.Phe500Val) c.1429T>G (p.Phe477Val) c.1420T>G (p.Phe474Val) c.1330T>G (p.Phe444Val) c.865T>G (p.Phe289Val) c.206+2003T>G c.*896T>G (n.*896T>G) | |
| 14 | g.87945725A>G | CA390746329 | GALC | c.1498T>C (p.Phe500Leu) c.1429T>C (p.Phe477Leu) c.1420T>C (p.Phe474Leu) c.1330T>C (p.Phe444Leu) c.865T>C (p.Phe289Leu) c.206+2003T>C c.*896T>C (n.*896T>C) | |
| 14 | g.87945725A>T | CA390746330 | GALC | c.1498T>A (p.Phe500Ile) c.1429T>A (p.Phe477Ile) c.1420T>A (p.Phe474Ile) c.1330T>A (p.Phe444Ile) c.865T>A (p.Phe289Ile) c.206+2003T>A c.*896T>A (n.*896T>A) | gnomAD v4 |
| 14 | g.87945726T>A | CA487355583 | GALC | c.1497A>T (p.Pro499=) c.1428A>T (p.Pro476=) c.1419A>T (p.Pro473=) c.1329A>T (p.Pro443=) c.864A>T (p.Pro288=) c.206+2002A>T c.*895A>T (n.*895A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87945726T>C | CA487355584 | GALC | c.1497A>G (p.Pro499=) c.1428A>G (p.Pro476=) c.1419A>G (p.Pro473=) c.1329A>G (p.Pro443=) c.864A>G (p.Pro288=) c.206+2002A>G c.*895A>G (n.*895A>G) | |
| 14 | g.87945726T>G | CA487355585 | GALC | c.1497A>C (p.Pro499=) c.1428A>C (p.Pro476=) c.1419A>C (p.Pro473=) c.1329A>C (p.Pro443=) c.864A>C (p.Pro288=) c.206+2002A>C c.*895A>C (n.*895A>C) | |
| 14 | g.87945726T= | CA2153356987 | GALC | c.1497A= (p.Pro499=) c.1428A= (p.Pro476=) c.1419A= (p.Pro473=) c.1329A= (p.Pro443=) c.864A= (p.Pro288=) c.206+2002A= c.*895A= (n.*895A=) | |
| 14 | g.87945727G>A | CA390746331 | GALC | c.1496C>T (p.Pro499Leu) c.1427C>T (p.Pro476Leu) c.1418C>T (p.Pro473Leu) c.1328C>T (p.Pro443Leu) c.863C>T (p.Pro288Leu) c.206+2001C>T c.*894C>T (n.*894C>T) | ClinVar dbSNP |
| 14 | g.87945727G>C | CA390746332 | GALC | c.1496C>G (p.Pro499Arg) c.1427C>G (p.Pro476Arg) c.1418C>G (p.Pro473Arg) c.1328C>G (p.Pro443Arg) c.863C>G (p.Pro288Arg) c.206+2001C>G c.*894C>G (n.*894C>G) | |
| 14 | g.87945727G>T | CA390746333 | GALC | c.1496C>A (p.Pro499Gln) c.1427C>A (p.Pro476Gln) c.1418C>A (p.Pro473Gln) c.1328C>A (p.Pro443Gln) c.863C>A (p.Pro288Gln) c.206+2001C>A c.*894C>A (n.*894C>A) | |
| 14 | g.87945728G>A | CA390746336 | GALC | c.1495C>T (p.Pro499Ser) c.1426C>T (p.Pro476Ser) c.1417C>T (p.Pro473Ser) c.1327C>T (p.Pro443Ser) c.862C>T (p.Pro288Ser) c.206+2000C>T c.*893C>T (n.*893C>T) | |
| 14 | g.87945728G>C | CA390746334 | GALC | c.1495C>G (p.Pro499Ala) c.1426C>G (p.Pro476Ala) c.1417C>G (p.Pro473Ala) c.1327C>G (p.Pro443Ala) c.862C>G (p.Pro288Ala) c.206+2000C>G c.*893C>G (n.*893C>G) | |
| 14 | g.87945728G>T | CA390746335 | GALC | c.1495C>A (p.Pro499Thr) c.1426C>A (p.Pro476Thr) c.1417C>A (p.Pro473Thr) c.1327C>A (p.Pro443Thr) c.862C>A (p.Pro288Thr) c.206+2000C>A c.*893C>A (n.*893C>A) | gnomAD v4 |
| 14 | g.87945728_87945763delinsGGTAATCTGTTCAGAATGTAAGAAATTCTCTGTTTA | CA2153356990 | GALC | c.1490-30_1495delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC c.1421-30_1426delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC c.1412-30_1417delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC c.1322-30_1327delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC c.857-30_862delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC c.206+1965_206+2000delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC c.*888-30_*893delinsTAAACAGAGAATTTCTTACATTCTGAACAGATTACC | |
| 14 | g.87945729G>A | CA487355586 | GALC | c.1494C>T (p.Tyr498=) c.1425C>T (p.Tyr475=) c.1416C>T (p.Tyr472=) c.1326C>T (p.Tyr442=) c.861C>T (p.Tyr287=) c.206+1999C>T c.*892C>T (n.*892C>T) | gnomAD v4 |
| 14 | g.87945729G>C | CA390746337 | GALC | c.1494C>G (p.Tyr498Ter) c.1425C>G (p.Tyr475Ter) c.1416C>G (p.Tyr472Ter) c.1326C>G (p.Tyr442Ter) c.861C>G (p.Tyr287Ter) c.206+1999C>G c.*892C>G (n.*892C>G) | |
| 14 | g.87945729G>T | CA390746338 | GALC | c.1494C>A (p.Tyr498Ter) c.1425C>A (p.Tyr475Ter) c.1416C>A (p.Tyr472Ter) c.1326C>A (p.Tyr442Ter) c.861C>A (p.Tyr287Ter) c.206+1999C>A c.*892C>A (n.*892C>A) | |
| 14 | g.87945732_87945766del | CA615670056 | GALC | c.1490-30_1494del c.1421-30_1425del c.1412-30_1416del c.1322-30_1326del c.857-30_861del c.206+1965_206+1999del c.*888-30_*892del | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945730T>A | CA390746339 | GALC | c.1493A>T (p.Tyr498Phe) c.1424A>T (p.Tyr475Phe) c.1415A>T (p.Tyr472Phe) c.1325A>T (p.Tyr442Phe) c.860A>T (p.Tyr287Phe) c.206+1998A>T c.*891A>T (n.*891A>T) | |
| 14 | g.87945730T>C | CA390746340 | GALC | c.1493A>G (p.Tyr498Cys) c.1424A>G (p.Tyr475Cys) c.1415A>G (p.Tyr472Cys) c.1325A>G (p.Tyr442Cys) c.860A>G (p.Tyr287Cys) c.206+1998A>G c.*891A>G (n.*891A>G) | |
| 14 | g.87945730T>G | CA390746341 | GALC | c.1493A>C (p.Tyr498Ser) c.1424A>C (p.Tyr475Ser) c.1415A>C (p.Tyr472Ser) c.1325A>C (p.Tyr442Ser) c.860A>C (p.Tyr287Ser) c.206+1998A>C c.*891A>C (n.*891A>C) | |
| 14 | g.87945731A= | CA2153356995 | GALC | c.1492T= (p.Tyr498=) c.1423T= (p.Tyr475=) c.1414T= (p.Tyr472=) c.1324T= (p.Tyr442=) c.859T= (p.Tyr287=) c.206+1997T= c.*890T= (n.*890T=) | |
| 14 | g.87945731A>C | CA390746344 | GALC | c.1492T>G (p.Tyr498Asp) c.1423T>G (p.Tyr475Asp) c.1414T>G (p.Tyr472Asp) c.1324T>G (p.Tyr442Asp) c.859T>G (p.Tyr287Asp) c.206+1997T>G c.*890T>G (n.*890T>G) | |
| 14 | g.87945731A>G | CA390746342 | GALC | c.1492T>C (p.Tyr498His) c.1423T>C (p.Tyr475His) c.1414T>C (p.Tyr472His) c.1324T>C (p.Tyr442His) c.859T>C (p.Tyr287His) c.206+1997T>C c.*890T>C (n.*890T>C) | dbSNP gnomAD v4 |
| 14 | g.87945731A>T | CA390746343 | GALC | c.1492T>A (p.Tyr498Asn) c.1423T>A (p.Tyr475Asn) c.1414T>A (p.Tyr472Asn) c.1324T>A (p.Tyr442Asn) c.859T>A (p.Tyr287Asn) c.206+1997T>A c.*890T>A (n.*890T>A) | |
| 14 | g.87945732A>C | CA390746345 | GALC | c.1491T>G (p.Asp497Glu) c.1422T>G (p.Asp474Glu) c.1413T>G (p.Asp471Glu) c.1323T>G (p.Asp441Glu) c.858T>G (p.Asp286Glu) c.206+1996T>G c.*889T>G (n.*889T>G) | |
| 14 | g.87945732A>G | CA487355587 | GALC | c.1491T>C (p.Asp497=) c.1422T>C (p.Asp474=) c.1413T>C (p.Asp471=) c.1323T>C (p.Asp441=) c.858T>C (p.Asp286=) c.206+1996T>C c.*889T>C (n.*889T>C) | |
| 14 | g.87945732A>T | CA390746346 | GALC | c.1491T>A (p.Asp497Glu) c.1422T>A (p.Asp474Glu) c.1413T>A (p.Asp471Glu) c.1323T>A (p.Asp441Glu) c.858T>A (p.Asp286Glu) c.206+1996T>A c.*889T>A (n.*889T>A) | |
| 14 | g.87945733T>A | CA390746347 | GALC | c.1490A>T (p.Asp497Val) c.1421A>T (p.Asp474Val) c.1412A>T (p.Asp471Val) c.1322A>T (p.Asp441Val) c.857A>T (p.Asp286Val) c.206+1995A>T c.*888A>T (n.*888A>T) | |
| 14 | g.87945733T>C | CA390746348 | GALC | c.1490A>G (p.Asp497Gly) c.1421A>G (p.Asp474Gly) c.1412A>G (p.Asp471Gly) c.1322A>G (p.Asp441Gly) c.857A>G (p.Asp286Gly) c.206+1995A>G c.*888A>G (n.*888A>G) | |
| 14 | g.87945733T>G | CA390746349 | GALC | c.1490A>C (p.Asp497Ala) c.1421A>C (p.Asp474Ala) c.1412A>C (p.Asp471Ala) c.1322A>C (p.Asp441Ala) c.857A>C (p.Asp286Ala) c.206+1995A>C c.*888A>C (n.*888A>C) | |
| 14 | g.87945734_87945735dup | CA2625979035 | GALC | c.1490-1_1490dup c.1421-1_1421dup c.1412-1_1412dup c.1322-1_1322dup c.857-1_857dup c.206+1994_206+1995dup c.*888-1_*888dup | gnomAD v4 |
| 14 | g.87945734C>A | CA390746350 | GALC | c.1490-1G>T (n.1490-1G>T) c.1421-1G>T (n.1421-1G>T) c.1412-1G>T (n.1412-1G>T) c.1322-1G>T (n.1322-1G>T) c.857-1G>T (n.857-1G>T) c.206+1994G>T c.*888-1G>T (n.*888-1G>T) | |
| 14 | g.87945734C>G | CA390746351 | GALC | c.1490-1G>C (n.1490-1G>C) c.1421-1G>C (n.1421-1G>C) c.1412-1G>C (n.1412-1G>C) c.1322-1G>C (n.1322-1G>C) c.857-1G>C (n.857-1G>C) c.206+1994G>C c.*888-1G>C (n.*888-1G>C) | |
| 14 | g.87945734C>T | CA390746352 | GALC | c.1490-1G>A (n.1490-1G>A) c.1421-1G>A (n.1421-1G>A) c.1412-1G>A (n.1412-1G>A) c.1322-1G>A (n.1322-1G>A) c.857-1G>A (n.857-1G>A) c.206+1994G>A c.*888-1G>A (n.*888-1G>A) | |
| 14 | g.87945734_87945735insAACATTGAAATCATCCT | CA2730142090 | GALC | c.1490-2_1490-1insAGGATGATTTCAATGTT (n.1490-2_1490-1insAGGATGATTTCAATGTT) c.1421-2_1421-1insAGGATGATTTCAATGTT (n.1421-2_1421-1insAGGATGATTTCAATGTT) c.1412-2_1412-1insAGGATGATTTCAATGTT (n.1412-2_1412-1insAGGATGATTTCAATGTT) c.1322-2_1322-1insAGGATGATTTCAATGTT (n.1322-2_1322-1insAGGATGATTTCAATGTT) c.857-2_857-1insAGGATGATTTCAATGTT (n.857-2_857-1insAGGATGATTTCAATGTT) c.206+1993_206+1994insAGGATGATTTCAATGTT c.*888-2_*888-1insAGGATGATTTCAATGTT (n.*888-2_*888-1insAGGATGATTTCAATGTT) | dbSNP |
| 14 | g.87945735T>A | CA390746353 | GALC | c.1490-2A>T (n.1490-2A>T) c.1421-2A>T (n.1421-2A>T) c.1412-2A>T (n.1412-2A>T) c.1322-2A>T (n.1322-2A>T) c.857-2A>T (n.857-2A>T) c.206+1993A>T c.*888-2A>T (n.*888-2A>T) | |
| 14 | g.87945735T>C | CA390746354 | GALC | c.1490-2A>G (n.1490-2A>G) c.1421-2A>G (n.1421-2A>G) c.1412-2A>G (n.1412-2A>G) c.1322-2A>G (n.1322-2A>G) c.857-2A>G (n.857-2A>G) c.206+1993A>G c.*888-2A>G (n.*888-2A>G) | gnomAD v4 |
| 14 | g.87945735T>G | CA390746355 | GALC | c.1490-2A>C (n.1490-2A>C) c.1421-2A>C (n.1421-2A>C) c.1412-2A>C (n.1412-2A>C) c.1322-2A>C (n.1322-2A>C) c.857-2A>C (n.857-2A>C) c.206+1993A>C c.*888-2A>C (n.*888-2A>C) | |
| 14 | g.87945737T>C | CA7296990 | GALC | c.1490-4A>G (n.1490-4A>G) c.1421-4A>G (n.1421-4A>G) c.1412-4A>G (n.1412-4A>G) c.1322-4A>G (n.1322-4A>G) c.857-4A>G (n.857-4A>G) c.206+1991A>G c.*888-4A>G (n.*888-4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945737T= | CA2153356997 | GALC | c.1490-4A= (n.1490-4A=) c.1421-4A= (n.1421-4A=) c.1412-4A= (n.1412-4A=) c.1322-4A= (n.1322-4A=) c.857-4A= (n.857-4A=) c.206+1991A= c.*888-4A= (n.*888-4A=) | |
| 14 | g.87945738T>A | CA2153357000 | GALC | c.1490-5A>T (n.1490-5A>T) c.1421-5A>T (n.1421-5A>T) c.1412-5A>T (n.1412-5A>T) c.1322-5A>T (n.1322-5A>T) c.857-5A>T (n.857-5A>T) c.206+1990A>T c.*888-5A>T (n.*888-5A>T) | dbSNP |
| 14 | g.87945738T= | CA2153356999 | GALC | c.1490-5A= (n.1490-5A=) c.1421-5A= (n.1421-5A=) c.1412-5A= (n.1412-5A=) c.1322-5A= (n.1322-5A=) c.857-5A= (n.857-5A=) c.206+1990A= c.*888-5A= (n.*888-5A=) | |
| 14 | g.87945739C= | CA2153357001 | GALC | c.1490-6G= (n.1490-6G=) c.1421-6G= (n.1421-6G=) c.1412-6G= (n.1412-6G=) c.1322-6G= (n.1322-6G=) c.857-6G= (n.857-6G=) c.206+1989G= c.*888-6G= (n.*888-6G=) | |
| 14 | g.87945739C>T | CA7296991 | GALC | c.1490-6G>A (n.1490-6G>A) c.1421-6G>A (n.1421-6G>A) c.1412-6G>A (n.1412-6G>A) c.1322-6G>A (n.1322-6G>A) c.857-6G>A (n.857-6G>A) c.206+1989G>A c.*888-6G>A (n.*888-6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945740A= | CA2153357003 | GALC | c.1490-7T= (n.1490-7T=) c.1421-7T= (n.1421-7T=) c.1412-7T= (n.1412-7T=) c.1322-7T= (n.1322-7T=) c.857-7T= (n.857-7T=) c.206+1988T= c.*888-7T= (n.*888-7T=) | |
| 14 | g.87945740A>T | CA1139663614 | GALC | c.1490-7T>A (n.1490-7T>A) c.1421-7T>A (n.1421-7T>A) c.1412-7T>A (n.1412-7T>A) c.1322-7T>A (n.1322-7T>A) c.857-7T>A (n.857-7T>A) c.206+1988T>A c.*888-7T>A (n.*888-7T>A) | ClinVar dbSNP |
| 14 | g.87945741G>A | CA709650042 | GALC | c.1490-8C>T (n.1490-8C>T) c.1421-8C>T (n.1421-8C>T) c.1412-8C>T (n.1412-8C>T) c.1322-8C>T (n.1322-8C>T) c.857-8C>T (n.857-8C>T) c.206+1987C>T c.*888-8C>T (n.*888-8C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87945741G>C | CA1139663615 | GALC | c.1490-8C>G (n.1490-8C>G) c.1421-8C>G (n.1421-8C>G) c.1412-8C>G (n.1412-8C>G) c.1322-8C>G (n.1322-8C>G) c.857-8C>G (n.857-8C>G) c.206+1987C>G c.*888-8C>G (n.*888-8C>G) | ClinVar dbSNP |
| 14 | g.87945741G= | CA2153357008 | GALC | c.1490-8C= (n.1490-8C=) c.1421-8C= (n.1421-8C=) c.1412-8C= (n.1412-8C=) c.1322-8C= (n.1322-8C=) c.857-8C= (n.857-8C=) c.206+1987C= c.*888-8C= (n.*888-8C=) | |
| 14 | g.87945741G>T | CA2625979036 | GALC | c.1490-8C>A (n.1490-8C>A) c.1421-8C>A (n.1421-8C>A) c.1412-8C>A (n.1412-8C>A) c.1322-8C>A (n.1322-8C>A) c.857-8C>A (n.857-8C>A) c.206+1987C>A c.*888-8C>A (n.*888-8C>A) | gnomAD v4 |
| 14 | g.87945744T>A | CA615670057 | GALC | c.1490-11A>T (n.1490-11A>T) c.1421-11A>T (n.1421-11A>T) c.1412-11A>T (n.1412-11A>T) c.1322-11A>T (n.1322-11A>T) c.857-11A>T (n.857-11A>T) c.206+1984A>T c.*888-11A>T (n.*888-11A>T) | ClinVar dbSNP gnomAD v2 |
| 14 | g.87945744T>C | CA615670058 | GALC | c.1490-11A>G (n.1490-11A>G) c.1421-11A>G (n.1421-11A>G) c.1412-11A>G (n.1412-11A>G) c.1322-11A>G (n.1322-11A>G) c.857-11A>G (n.857-11A>G) c.206+1984A>G c.*888-11A>G (n.*888-11A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945744T= | CA2153357011 | GALC | c.1490-11A= (n.1490-11A=) c.1421-11A= (n.1421-11A=) c.1412-11A= (n.1412-11A=) c.1322-11A= (n.1322-11A=) c.857-11A= (n.857-11A=) c.206+1984A= c.*888-11A= (n.*888-11A=) | |
| 14 | g.87945745G>A | CA709650050 | GALC | c.1490-12C>T (n.1490-12C>T) c.1421-12C>T (n.1421-12C>T) c.1412-12C>T (n.1412-12C>T) c.1322-12C>T (n.1322-12C>T) c.857-12C>T (n.857-12C>T) c.206+1983C>T c.*888-12C>T (n.*888-12C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87945745G= | CA2153357013 | GALC | c.1490-12C= (n.1490-12C=) c.1421-12C= (n.1421-12C=) c.1412-12C= (n.1412-12C=) c.1322-12C= (n.1322-12C=) c.857-12C= (n.857-12C=) c.206+1983C= c.*888-12C= (n.*888-12C=) | |
| 14 | g.87945745G>T | CA2625979037 | GALC | c.1490-12C>A (n.1490-12C>A) c.1421-12C>A (n.1421-12C>A) c.1412-12C>A (n.1412-12C>A) c.1322-12C>A (n.1322-12C>A) c.857-12C>A (n.857-12C>A) c.206+1983C>A c.*888-12C>A (n.*888-12C>A) | gnomAD v4 |
| 14 | g.87945746dup | CA2625979038 | GALC | c.1490-13dup (n.1490-13dup) c.1421-13dup (n.1421-13dup) c.1412-13dup (n.1412-13dup) c.1322-13dup (n.1322-13dup) c.857-13dup (n.857-13dup) c.206+1982dup c.*888-13dup (n.*888-13dup) | ClinVar gnomAD v4 |
| 14 | g.87945748del | CA2625979039 | GALC | c.1490-14del (n.1490-14del) c.1421-14del (n.1421-14del) c.1412-14del (n.1412-14del) c.1322-14del (n.1322-14del) c.857-14del (n.857-14del) c.206+1981del c.*888-14del (n.*888-14del) | gnomAD v4 |
| 14 | g.87945749G= | CA2153357017 | GALC | c.1490-16C= (n.1490-16C=) c.1421-16C= (n.1421-16C=) c.1412-16C= (n.1412-16C=) c.1322-16C= (n.1322-16C=) c.857-16C= (n.857-16C=) c.206+1979C= c.*888-16C= (n.*888-16C=) | |
| 14 | g.87945749G>T | CA709650051 | GALC | c.1490-16C>A (n.1490-16C>A) c.1421-16C>A (n.1421-16C>A) c.1412-16C>A (n.1412-16C>A) c.1322-16C>A (n.1322-16C>A) c.857-16C>A (n.857-16C>A) c.206+1979C>A c.*888-16C>A (n.*888-16C>A) | dbSNP gnomAD v4 |
| 14 | g.87945750A>G | CA2625979040 | GALC | c.1490-17T>C (n.1490-17T>C) c.1421-17T>C (n.1421-17T>C) c.1412-17T>C (n.1412-17T>C) c.1322-17T>C (n.1322-17T>C) c.857-17T>C (n.857-17T>C) c.206+1978T>C c.*888-17T>C (n.*888-17T>C) | gnomAD v4 |
| 14 | g.87945752A= | CA2153357019 | GALC | c.1490-19T= (n.1490-19T=) c.1421-19T= (n.1421-19T=) c.1412-19T= (n.1412-19T=) c.1322-19T= (n.1322-19T=) c.857-19T= (n.857-19T=) c.206+1976T= c.*888-19T= (n.*888-19T=) | |
| 14 | g.87945752A>G | CA264683793 | GALC | c.1490-19T>C (n.1490-19T>C) c.1421-19T>C (n.1421-19T>C) c.1412-19T>C (n.1412-19T>C) c.1322-19T>C (n.1322-19T>C) c.857-19T>C (n.857-19T>C) c.206+1976T>C c.*888-19T>C (n.*888-19T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945753T>C | CA2625979041 | GALC | c.1490-20A>G (n.1490-20A>G) c.1421-20A>G (n.1421-20A>G) c.1412-20A>G (n.1412-20A>G) c.1322-20A>G (n.1322-20A>G) c.857-20A>G (n.857-20A>G) c.206+1975A>G c.*888-20A>G (n.*888-20A>G) | gnomAD v4 |
| 14 | g.87945753_87945755delinsTTC | CA2153357021 | GALC | c.1490-22_1490-20delinsGAA (n.1490-22_1490-20delinsGAA) c.1421-22_1421-20delinsGAA (n.1421-22_1421-20delinsGAA) c.1412-22_1412-20delinsGAA (n.1412-22_1412-20delinsGAA) c.1322-22_1322-20delinsGAA (n.1322-22_1322-20delinsGAA) c.857-22_857-20delinsGAA (n.857-22_857-20delinsGAA) c.206+1973_206+1975delinsGAA c.*888-22_*888-20delinsGAA (n.*888-22_*888-20delinsGAA) | |
| 14 | g.87945754T>C | CA615670059 | GALC | c.1490-21A>G (n.1490-21A>G) c.1421-21A>G (n.1421-21A>G) c.1412-21A>G (n.1412-21A>G) c.1322-21A>G (n.1322-21A>G) c.857-21A>G (n.857-21A>G) c.206+1974A>G c.*888-21A>G (n.*888-21A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945754T= | CA2153357025 | GALC | c.1490-21A= (n.1490-21A=) c.1421-21A= (n.1421-21A=) c.1412-21A= (n.1412-21A=) c.1322-21A= (n.1322-21A=) c.857-21A= (n.857-21A=) c.206+1974A= c.*888-21A= (n.*888-21A=) | |
| 14 | g.87945757_87945758del | CA7296992 | GALC | c.1490-22_1490-21del (n.1490-22_1490-21del) c.1421-22_1421-21del (n.1421-22_1421-21del) c.1412-22_1412-21del (n.1412-22_1412-21del) c.1322-22_1322-21del (n.1322-22_1322-21del) c.857-22_857-21del (n.857-22_857-21del) c.206+1973_206+1974del c.*888-22_*888-21del (n.*888-22_*888-21del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945755C>A | CA7296993 | GALC | c.1490-22G>T (n.1490-22G>T) c.1421-22G>T (n.1421-22G>T) c.1412-22G>T (n.1412-22G>T) c.1322-22G>T (n.1322-22G>T) c.857-22G>T (n.857-22G>T) c.206+1973G>T c.*888-22G>T (n.*888-22G>T) | dbSNP ExAC |
| 14 | g.87945755C= | CA2153357028 | GALC | c.1490-22G= (n.1490-22G=) c.1421-22G= (n.1421-22G=) c.1412-22G= (n.1412-22G=) c.1322-22G= (n.1322-22G=) c.857-22G= (n.857-22G=) c.206+1973G= c.*888-22G= (n.*888-22G=) | |
| 14 | g.87945757C>A | CA2625979042 | GALC | c.1490-24G>T (n.1490-24G>T) c.1421-24G>T (n.1421-24G>T) c.1412-24G>T (n.1412-24G>T) c.1322-24G>T (n.1322-24G>T) c.857-24G>T (n.857-24G>T) c.206+1971G>T c.*888-24G>T (n.*888-24G>T) | gnomAD v4 |
| 14 | g.87945758T>C | CA7296994 | GALC | c.1490-25A>G (n.1490-25A>G) c.1421-25A>G (n.1421-25A>G) c.1412-25A>G (n.1412-25A>G) c.1322-25A>G (n.1322-25A>G) c.857-25A>G (n.857-25A>G) c.206+1970A>G c.*888-25A>G (n.*888-25A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945758T= | CA2153357031 | GALC | c.1490-25A= (n.1490-25A=) c.1421-25A= (n.1421-25A=) c.1412-25A= (n.1412-25A=) c.1322-25A= (n.1322-25A=) c.857-25A= (n.857-25A=) c.206+1970A= c.*888-25A= (n.*888-25A=) | |
| 14 | g.87945759G>A | CA264683817 | GALC | c.1490-26C>T (n.1490-26C>T) c.1421-26C>T (n.1421-26C>T) c.1412-26C>T (n.1412-26C>T) c.1322-26C>T (n.1322-26C>T) c.857-26C>T (n.857-26C>T) c.206+1969C>T c.*888-26C>T (n.*888-26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945759G= | CA2153357033 | GALC | c.1490-26C= (n.1490-26C=) c.1421-26C= (n.1421-26C=) c.1412-26C= (n.1412-26C=) c.1322-26C= (n.1322-26C=) c.857-26C= (n.857-26C=) c.206+1969C= c.*888-26C= (n.*888-26C=) | |
| 14 | g.87945759G>T | CA2625979043 | GALC | c.1490-26C>A (n.1490-26C>A) c.1421-26C>A (n.1421-26C>A) c.1412-26C>A (n.1412-26C>A) c.1322-26C>A (n.1322-26C>A) c.857-26C>A (n.857-26C>A) c.206+1969C>A c.*888-26C>A (n.*888-26C>A) | gnomAD v4 |
| 14 | g.87945760T>C | CA2153357035 | GALC | c.1490-27A>G (n.1490-27A>G) c.1421-27A>G (n.1421-27A>G) c.1412-27A>G (n.1412-27A>G) c.1322-27A>G (n.1322-27A>G) c.857-27A>G (n.857-27A>G) c.206+1968A>G c.*888-27A>G (n.*888-27A>G) | dbSNP |
| 14 | g.87945760T= | CA2153357037 | GALC | c.1490-27A= (n.1490-27A=) c.1421-27A= (n.1421-27A=) c.1412-27A= (n.1412-27A=) c.1322-27A= (n.1322-27A=) c.857-27A= (n.857-27A=) c.206+1968A= c.*888-27A= (n.*888-27A=) | |
| 14 | g.87945762del | CA2575595057 | GALC | c.1490-27del (n.1490-27del) c.1421-27del (n.1421-27del) c.1412-27del (n.1412-27del) c.1322-27del (n.1322-27del) c.857-27del (n.857-27del) c.206+1968del c.*888-27del (n.*888-27del) | gnomAD v4 |
| 14 | g.87945762T>C | CA2625979044 | GALC | c.1490-29A>G (n.1490-29A>G) c.1421-29A>G (n.1421-29A>G) c.1412-29A>G (n.1412-29A>G) c.1322-29A>G (n.1322-29A>G) c.857-29A>G (n.857-29A>G) c.206+1966A>G c.*888-29A>G (n.*888-29A>G) | gnomAD v4 |
| 14 | g.87945763A>G | CA2625979045 | GALC | c.1490-30T>C (n.1490-30T>C) c.1421-30T>C (n.1421-30T>C) c.1412-30T>C (n.1412-30T>C) c.1322-30T>C (n.1322-30T>C) c.857-30T>C (n.857-30T>C) c.206+1965T>C c.*888-30T>C (n.*888-30T>C) | gnomAD v4 |
| 14 | g.87945764G>A | CA7296995 | GALC | c.1490-31C>T (n.1490-31C>T) c.1421-31C>T (n.1421-31C>T) c.1412-31C>T (n.1412-31C>T) c.1322-31C>T (n.1322-31C>T) c.857-31C>T (n.857-31C>T) c.206+1964C>T c.*888-31C>T (n.*888-31C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.87945764G= | CA2153357040 | GALC | c.1490-31C= (n.1490-31C=) c.1421-31C= (n.1421-31C=) c.1412-31C= (n.1412-31C=) c.1322-31C= (n.1322-31C=) c.857-31C= (n.857-31C=) c.206+1964C= c.*888-31C= (n.*888-31C=) | |
| 14 | g.87945764G>T | CA2625979046 | GALC | c.1490-31C>A (n.1490-31C>A) c.1421-31C>A (n.1421-31C>A) c.1412-31C>A (n.1412-31C>A) c.1322-31C>A (n.1322-31C>A) c.857-31C>A (n.857-31C>A) c.206+1964C>A c.*888-31C>A (n.*888-31C>A) | gnomAD v4 |
| 14 | g.87945765T>C | CA615670060 | GALC | c.1490-32A>G (n.1490-32A>G) c.1421-32A>G (n.1421-32A>G) c.1412-32A>G (n.1412-32A>G) c.1322-32A>G (n.1322-32A>G) c.857-32A>G (n.857-32A>G) c.206+1963A>G c.*888-32A>G (n.*888-32A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945765T= | CA2153357044 | GALC | c.1490-32A= (n.1490-32A=) c.1421-32A= (n.1421-32A=) c.1412-32A= (n.1412-32A=) c.1322-32A= (n.1322-32A=) c.857-32A= (n.857-32A=) c.206+1963A= c.*888-32A= (n.*888-32A=) | |
| 14 | g.87945767T>A | CA2575595058 | GALC | c.1490-34A>T (n.1490-34A>T) c.1421-34A>T (n.1421-34A>T) c.1412-34A>T (n.1412-34A>T) c.1322-34A>T (n.1322-34A>T) c.857-34A>T (n.857-34A>T) c.206+1961A>T c.*888-34A>T (n.*888-34A>T) | |
| 14 | g.87945767T>C | CA2153357048 | GALC | c.1490-34A>G (n.1490-34A>G) c.1421-34A>G (n.1421-34A>G) c.1412-34A>G (n.1412-34A>G) c.1322-34A>G (n.1322-34A>G) c.857-34A>G (n.857-34A>G) c.206+1961A>G c.*888-34A>G (n.*888-34A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87945767T= | CA2153357046 | GALC | c.1490-34A= (n.1490-34A=) c.1421-34A= (n.1421-34A=) c.1412-34A= (n.1412-34A=) c.1322-34A= (n.1322-34A=) c.857-34A= (n.857-34A=) c.206+1961A= c.*888-34A= (n.*888-34A=) | |
| 14 | g.87945768C>A | CA965696884 | GALC | c.1490-35G>T (n.1490-35G>T) c.1421-35G>T (n.1421-35G>T) c.1412-35G>T (n.1412-35G>T) c.1322-35G>T (n.1322-35G>T) c.857-35G>T (n.857-35G>T) c.206+1960G>T c.*888-35G>T (n.*888-35G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87945768C= | CA2153357049 | GALC | c.1490-35G= (n.1490-35G=) c.1421-35G= (n.1421-35G=) c.1412-35G= (n.1412-35G=) c.1322-35G= (n.1322-35G=) c.857-35G= (n.857-35G=) c.206+1960G= c.*888-35G= (n.*888-35G=) | |
| 14 | g.87945768C>G | CA264683823 | GALC | c.1490-35G>C (n.1490-35G>C) c.1421-35G>C (n.1421-35G>C) c.1412-35G>C (n.1412-35G>C) c.1322-35G>C (n.1322-35G>C) c.857-35G>C (n.857-35G>C) c.206+1960G>C c.*888-35G>C (n.*888-35G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945768C>T | CA2625979047 | GALC | c.1490-35G>A (n.1490-35G>A) c.1421-35G>A (n.1421-35G>A) c.1412-35G>A (n.1412-35G>A) c.1322-35G>A (n.1322-35G>A) c.857-35G>A (n.857-35G>A) c.206+1960G>A c.*888-35G>A (n.*888-35G>A) | gnomAD v4 |
| 14 | g.87945772T>C | CA2625979048 | GALC | c.1490-39A>G (n.1490-39A>G) c.1421-39A>G (n.1421-39A>G) c.1412-39A>G (n.1412-39A>G) c.1322-39A>G (n.1322-39A>G) c.857-39A>G (n.857-39A>G) c.206+1956A>G c.*888-39A>G (n.*888-39A>G) | gnomAD v4 |
| 14 | g.87945773C>A | CA2625979049 | GALC | c.1490-40G>T (n.1490-40G>T) c.1421-40G>T (n.1421-40G>T) c.1412-40G>T (n.1412-40G>T) c.1322-40G>T (n.1322-40G>T) c.857-40G>T (n.857-40G>T) c.206+1955G>T c.*888-40G>T (n.*888-40G>T) | gnomAD v4 |
| 14 | g.87945773C= | CA2153357054 | GALC | c.1490-40G= (n.1490-40G=) c.1421-40G= (n.1421-40G=) c.1412-40G= (n.1412-40G=) c.1322-40G= (n.1322-40G=) c.857-40G= (n.857-40G=) c.206+1955G= c.*888-40G= (n.*888-40G=) | |
| 14 | g.87945773C>G | CA615670061 | GALC | c.1490-40G>C (n.1490-40G>C) c.1421-40G>C (n.1421-40G>C) c.1412-40G>C (n.1412-40G>C) c.1322-40G>C (n.1322-40G>C) c.857-40G>C (n.857-40G>C) c.206+1955G>C c.*888-40G>C (n.*888-40G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945774C>T | CA2625979050 | GALC | c.1490-41G>A (n.1490-41G>A) c.1421-41G>A (n.1421-41G>A) c.1412-41G>A (n.1412-41G>A) c.1322-41G>A (n.1322-41G>A) c.857-41G>A (n.857-41G>A) c.206+1954G>A c.*888-41G>A (n.*888-41G>A) | gnomAD v4 |
| 14 | g.87945775T>C | CA2625979051 | GALC | c.1490-42A>G (n.1490-42A>G) c.1421-42A>G (n.1421-42A>G) c.1412-42A>G (n.1412-42A>G) c.1322-42A>G (n.1322-42A>G) c.857-42A>G (n.857-42A>G) c.206+1953A>G c.*888-42A>G (n.*888-42A>G) | gnomAD v4 |
| 14 | g.87945776T>C | CA7296996 | GALC | c.1490-43A>G (n.1490-43A>G) c.1421-43A>G (n.1421-43A>G) c.1412-43A>G (n.1412-43A>G) c.1322-43A>G (n.1322-43A>G) c.857-43A>G (n.857-43A>G) c.206+1952A>G c.*888-43A>G (n.*888-43A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945776T= | CA2153357057 | GALC | c.1490-43A= (n.1490-43A=) c.1421-43A= (n.1421-43A=) c.1412-43A= (n.1412-43A=) c.1322-43A= (n.1322-43A=) c.857-43A= (n.857-43A=) c.206+1952A= c.*888-43A= (n.*888-43A=) | |
| 14 | g.87945777C>T | CA2575595059 | GALC | c.1490-44G>A (n.1490-44G>A) c.1421-44G>A (n.1421-44G>A) c.1412-44G>A (n.1412-44G>A) c.1322-44G>A (n.1322-44G>A) c.857-44G>A (n.857-44G>A) c.206+1951G>A c.*888-44G>A (n.*888-44G>A) | |
| 14 | g.87945779G>C | CA2153357060 | GALC | c.1490-46C>G (n.1490-46C>G) c.1421-46C>G (n.1421-46C>G) c.1412-46C>G (n.1412-46C>G) c.1322-46C>G (n.1322-46C>G) c.857-46C>G (n.857-46C>G) c.206+1949C>G c.*888-46C>G (n.*888-46C>G) | dbSNP gnomAD v4 |
| 14 | g.87945779G= | CA2153357059 | GALC | c.1490-46C= (n.1490-46C=) c.1421-46C= (n.1421-46C=) c.1412-46C= (n.1412-46C=) c.1322-46C= (n.1322-46C=) c.857-46C= (n.857-46C=) c.206+1949C= c.*888-46C= (n.*888-46C=) | |
| 14 | g.87945780A= | CA2153357065 | GALC | c.1490-47T= (n.1490-47T=) c.1421-47T= (n.1421-47T=) c.1412-47T= (n.1412-47T=) c.1322-47T= (n.1322-47T=) c.857-47T= (n.857-47T=) c.206+1948T= c.*888-47T= (n.*888-47T=) | |
| 14 | g.87945780A>G | CA7296997 | GALC | c.1490-47T>C (n.1490-47T>C) c.1421-47T>C (n.1421-47T>C) c.1412-47T>C (n.1412-47T>C) c.1322-47T>C (n.1322-47T>C) c.857-47T>C (n.857-47T>C) c.206+1948T>C c.*888-47T>C (n.*888-47T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |