| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87945566C>A | CA390745974 | GALC | c.1657G>T (p.Gly553Ter) c.1588G>T (p.Gly530Ter) c.1579G>T (p.Gly527Ter) c.1489G>T (p.Gly497Ter) c.1024G>T (p.Gly342Ter) c.206+2162G>T c.*1055G>T (n.*1055G>T) | |
| 14 | g.87945566C= | CA2153356493 | GALC | c.1657G= (p.Gly553=) c.1588G= (p.Gly530=) c.1579G= (p.Gly527=) c.1489G= (p.Gly497=) c.1024G= (p.Gly342=) c.206+2162G= c.*1055G= (n.*1055G=) | |
| 14 | g.87945566C>G | CA390745975 | GALC | c.1657G>C (p.Gly553Arg) c.1588G>C (p.Gly530Arg) c.1579G>C (p.Gly527Arg) c.1489G>C (p.Gly497Arg) c.1024G>C (p.Gly342Arg) c.206+2162G>C c.*1055G>C (n.*1055G>C) | |
| 14 | g.87945566C>T | CA274392 | GALC | c.1657G>A (p.Gly553Arg) c.1588G>A (p.Gly530Arg) c.1579G>A (p.Gly527Arg) c.1489G>A (p.Gly497Arg) c.1024G>A (p.Gly342Arg) c.206+2162G>A c.*1055G>A (n.*1055G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945567T>A | CA487355483 | GALC | c.1656A>T (p.Ile552=) c.1587A>T (p.Ile529=) c.1578A>T (p.Ile526=) c.1488A>T (p.Ile496=) c.1023A>T (p.Ile341=) c.206+2161A>T c.*1054A>T (n.*1054A>T) | |
| 14 | g.87945567T>C | CA390745976 | GALC | c.1656A>G (p.Ile552Met) c.1587A>G (p.Ile529Met) c.1578A>G (p.Ile526Met) c.1488A>G (p.Ile496Met) c.1023A>G (p.Ile341Met) c.206+2161A>G c.*1054A>G (n.*1054A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945567T>G | CA487355484 | GALC | c.1656A>C (p.Ile552=) c.1587A>C (p.Ile529=) c.1578A>C (p.Ile526=) c.1488A>C (p.Ile496=) c.1023A>C (p.Ile341=) c.206+2161A>C c.*1054A>C (n.*1054A>C) | |
| 14 | g.87945567T= | CA2153356498 | GALC | c.1656A= (p.Ile552=) c.1587A= (p.Ile529=) c.1578A= (p.Ile526=) c.1488A= (p.Ile496=) c.1023A= (p.Ile341=) c.206+2161A= c.*1054A= (n.*1054A=) | |
| 14 | g.87945568A= | CA2153356501 | GALC | c.1655T= (p.Ile552=) c.1586T= (p.Ile529=) c.1577T= (p.Ile526=) c.1487T= (p.Ile496=) c.1022T= (p.Ile341=) c.206+2160T= c.*1053T= (n.*1053T=) | |
| 14 | g.87945568A>C | CA390745977 | GALC | c.1655T>G (p.Ile552Arg) c.1586T>G (p.Ile529Arg) c.1577T>G (p.Ile526Arg) c.1487T>G (p.Ile496Arg) c.1022T>G (p.Ile341Arg) c.206+2160T>G c.*1053T>G (n.*1053T>G) | |
| 14 | g.87945568A>G | CA390745979 | GALC | c.1655T>C (p.Ile552Thr) c.1586T>C (p.Ile529Thr) c.1577T>C (p.Ile526Thr) c.1487T>C (p.Ile496Thr) c.1022T>C (p.Ile341Thr) c.206+2160T>C c.*1053T>C (n.*1053T>C) | dbSNP gnomAD v4 |
| 14 | g.87945568A>T | CA390745978 | GALC | c.1655T>A (p.Ile552Lys) c.1586T>A (p.Ile529Lys) c.1577T>A (p.Ile526Lys) c.1487T>A (p.Ile496Lys) c.1022T>A (p.Ile341Lys) c.206+2160T>A c.*1053T>A (n.*1053T>A) | |
| 14 | g.87945569T>A | CA390745980 | GALC | c.1654A>T (p.Ile552Leu) c.1585A>T (p.Ile529Leu) c.1576A>T (p.Ile526Leu) c.1486A>T (p.Ile496Leu) c.1021A>T (p.Ile341Leu) c.206+2159A>T c.*1052A>T (n.*1052A>T) | |
| 14 | g.87945569T>C | CA390745982 | GALC | c.1654A>G (p.Ile552Val) c.1585A>G (p.Ile529Val) c.1576A>G (p.Ile526Val) c.1486A>G (p.Ile496Val) c.1021A>G (p.Ile341Val) c.206+2159A>G c.*1052A>G (n.*1052A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87945569T>G | CA390745981 | GALC | c.1654A>C (p.Ile552Leu) c.1585A>C (p.Ile529Leu) c.1576A>C (p.Ile526Leu) c.1486A>C (p.Ile496Leu) c.1021A>C (p.Ile341Leu) c.206+2159A>C c.*1052A>C (n.*1052A>C) | |
| 14 | g.87945569T= | CA2153356503 | GALC | c.1654A= (p.Ile552=) c.1585A= (p.Ile529=) c.1576A= (p.Ile526=) c.1486A= (p.Ile496=) c.1021A= (p.Ile341=) c.206+2159A= c.*1052A= (n.*1052A=) | |
| 14 | g.87945570A>C | CA390745983 | GALC | c.1653T>G (p.Ile551Met) c.1584T>G (p.Ile528Met) c.1575T>G (p.Ile525Met) c.1485T>G (p.Ile495Met) c.1020T>G (p.Ile340Met) c.206+2158T>G c.*1051T>G (n.*1051T>G) | |
| 14 | g.87945570A>G | CA487355485 | GALC | c.1653T>C (p.Ile551=) c.1584T>C (p.Ile528=) c.1575T>C (p.Ile525=) c.1485T>C (p.Ile495=) c.1020T>C (p.Ile340=) c.206+2158T>C c.*1051T>C (n.*1051T>C) | |
| 14 | g.87945570A>T | CA487355486 | GALC | c.1653T>A (p.Ile551=) c.1584T>A (p.Ile528=) c.1575T>A (p.Ile525=) c.1485T>A (p.Ile495=) c.1020T>A (p.Ile340=) c.206+2158T>A c.*1051T>A (n.*1051T>A) | |
| 14 | g.87945571del | CA2625979032 | GALC | c.1653del (p.Ile552Ter) c.1584del (p.Ile529Ter) c.1575del (p.Ile526Ter) c.1485del (p.Ile496Ter) c.1020del (p.Ile341Ter) c.206+2158del c.*1051del (n.*1051del) | gnomAD v4 |
| 14 | g.87945571A>C | CA390745984 | GALC | c.1652T>G (p.Ile551Ser) c.1583T>G (p.Ile528Ser) c.1574T>G (p.Ile525Ser) c.1484T>G (p.Ile495Ser) c.1019T>G (p.Ile340Ser) c.206+2157T>G c.*1050T>G (n.*1050T>G) | |
| 14 | g.87945571A>G | CA390745985 | GALC | c.1652T>C (p.Ile551Thr) c.1583T>C (p.Ile528Thr) c.1574T>C (p.Ile525Thr) c.1484T>C (p.Ile495Thr) c.1019T>C (p.Ile340Thr) c.206+2157T>C c.*1050T>C (n.*1050T>C) | |
| 14 | g.87945571A>T | CA390745986 | GALC | c.1652T>A (p.Ile551Asn) c.1583T>A (p.Ile528Asn) c.1574T>A (p.Ile525Asn) c.1484T>A (p.Ile495Asn) c.1019T>A (p.Ile340Asn) c.206+2157T>A c.*1050T>A (n.*1050T>A) | |
| 14 | g.87945572T>A | CA390745987 | GALC | c.1651A>T (p.Ile551Phe) c.1582A>T (p.Ile528Phe) c.1573A>T (p.Ile525Phe) c.1483A>T (p.Ile495Phe) c.1018A>T (p.Ile340Phe) c.206+2156A>T c.*1049A>T (n.*1049A>T) | |
| 14 | g.87945572T>C | CA390745988 | GALC | c.1651A>G (p.Ile551Val) c.1582A>G (p.Ile528Val) c.1573A>G (p.Ile525Val) c.1483A>G (p.Ile495Val) c.1018A>G (p.Ile340Val) c.206+2156A>G c.*1049A>G (n.*1049A>G) | |
| 14 | g.87945572T>G | CA390745989 | GALC | c.1651A>C (p.Ile551Leu) c.1582A>C (p.Ile528Leu) c.1573A>C (p.Ile525Leu) c.1483A>C (p.Ile495Leu) c.1018A>C (p.Ile340Leu) c.206+2156A>C c.*1049A>C (n.*1049A>C) | |
| 14 | g.87945573A>C | CA390745990 | GALC | c.1650T>G (p.Ser550Arg) c.1581T>G (p.Ser527Arg) c.1572T>G (p.Ser524Arg) c.1482T>G (p.Ser494Arg) c.1017T>G (p.Ser339Arg) c.206+2155T>G c.*1048T>G (n.*1048T>G) | |
| 14 | g.87945573A>G | CA487355487 | GALC | c.1650T>C (p.Ser550=) c.1581T>C (p.Ser527=) c.1572T>C (p.Ser524=) c.1482T>C (p.Ser494=) c.1017T>C (p.Ser339=) c.206+2155T>C c.*1048T>C (n.*1048T>C) | |
| 14 | g.87945573A>T | CA390745991 | GALC | c.1650T>A (p.Ser550Arg) c.1581T>A (p.Ser527Arg) c.1572T>A (p.Ser524Arg) c.1482T>A (p.Ser494Arg) c.1017T>A (p.Ser339Arg) c.206+2155T>A c.*1048T>A (n.*1048T>A) | |
| 14 | g.87945574C>A | CA390745992 | GALC | c.1649G>T (p.Ser550Ile) c.1580G>T (p.Ser527Ile) c.1571G>T (p.Ser524Ile) c.1481G>T (p.Ser494Ile) c.1016G>T (p.Ser339Ile) c.206+2154G>T c.*1047G>T (n.*1047G>T) | |
| 14 | g.87945574C>G | CA390745993 | GALC | c.1649G>C (p.Ser550Thr) c.1580G>C (p.Ser527Thr) c.1571G>C (p.Ser524Thr) c.1481G>C (p.Ser494Thr) c.1016G>C (p.Ser339Thr) c.206+2154G>C c.*1047G>C (n.*1047G>C) | |
| 14 | g.87945574C>T | CA390745994 | GALC | c.1649G>A (p.Ser550Asn) c.1580G>A (p.Ser527Asn) c.1571G>A (p.Ser524Asn) c.1481G>A (p.Ser494Asn) c.1016G>A (p.Ser339Asn) c.206+2154G>A c.*1047G>A (n.*1047G>A) | gnomAD v4 |
| 14 | g.87945575T>A | CA390745997 | GALC | c.1648A>T (p.Ser550Cys) c.1579A>T (p.Ser527Cys) c.1570A>T (p.Ser524Cys) c.1480A>T (p.Ser494Cys) c.1015A>T (p.Ser339Cys) c.206+2153A>T c.*1046A>T (n.*1046A>T) | |
| 14 | g.87945575T>C | CA390745995 | GALC | c.1648A>G (p.Ser550Gly) c.1579A>G (p.Ser527Gly) c.1570A>G (p.Ser524Gly) c.1480A>G (p.Ser494Gly) c.1015A>G (p.Ser339Gly) c.206+2153A>G c.*1046A>G (n.*1046A>G) | |
| 14 | g.87945575T>G | CA390745996 | GALC | c.1648A>C (p.Ser550Arg) c.1579A>C (p.Ser527Arg) c.1570A>C (p.Ser524Arg) c.1480A>C (p.Ser494Arg) c.1015A>C (p.Ser339Arg) c.206+2153A>C c.*1046A>C (n.*1046A>C) | |
| 14 | g.87945575dup | CA2573150291 | GALC | c.1648dup (p.Ser550LysfsTer16) c.1579dup (p.Ser527LysfsTer16) c.1570dup (p.Ser524LysfsTer16) c.1480dup (p.Ser494LysfsTer16) c.1015dup (p.Ser339LysfsTer16) c.206+2153dup c.*1046dup (n.*1046dup) | ClinVar dbSNP |
| 14 | g.87945576G>A | CA487355489 | GALC | c.1647C>T (p.Ile549=) c.1578C>T (p.Ile526=) c.1569C>T (p.Ile523=) c.1479C>T (p.Ile493=) c.1014C>T (p.Ile338=) c.206+2152C>T c.*1045C>T (n.*1045C>T) | gnomAD v4 |
| 14 | g.87945576G>C | CA390745998 | GALC | c.1647C>G (p.Ile549Met) c.1578C>G (p.Ile526Met) c.1569C>G (p.Ile523Met) c.1479C>G (p.Ile493Met) c.1014C>G (p.Ile338Met) c.206+2152C>G c.*1045C>G (n.*1045C>G) | |
| 14 | g.87945576G>T | CA487355488 | GALC | c.1647C>A (p.Ile549=) c.1578C>A (p.Ile526=) c.1569C>A (p.Ile523=) c.1479C>A (p.Ile493=) c.1014C>A (p.Ile338=) c.206+2152C>A c.*1045C>A (n.*1045C>A) | gnomAD v4 |
| 14 | g.87945577A>C | CA390745999 | GALC | c.1646T>G (p.Ile549Ser) c.1577T>G (p.Ile526Ser) c.1568T>G (p.Ile523Ser) c.1478T>G (p.Ile493Ser) c.1013T>G (p.Ile338Ser) c.206+2151T>G c.*1044T>G (n.*1044T>G) | |
| 14 | g.87945577A>G | CA390746000 | GALC | c.1646T>C (p.Ile549Thr) c.1577T>C (p.Ile526Thr) c.1568T>C (p.Ile523Thr) c.1478T>C (p.Ile493Thr) c.1013T>C (p.Ile338Thr) c.206+2151T>C c.*1044T>C (n.*1044T>C) | |
| 14 | g.87945577A>T | CA390746001 | GALC | c.1646T>A (p.Ile549Asn) c.1577T>A (p.Ile526Asn) c.1568T>A (p.Ile523Asn) c.1478T>A (p.Ile493Asn) c.1013T>A (p.Ile338Asn) c.206+2151T>A c.*1044T>A (n.*1044T>A) | |
| 14 | g.87945578T>A | CA390746002 | GALC | c.1645A>T (p.Ile549Phe) c.1576A>T (p.Ile526Phe) c.1567A>T (p.Ile523Phe) c.1477A>T (p.Ile493Phe) c.1012A>T (p.Ile338Phe) c.206+2150A>T c.*1043A>T (n.*1043A>T) | |
| 14 | g.87945578T>C | CA390746003 | GALC | c.1645A>G (p.Ile549Val) c.1576A>G (p.Ile526Val) c.1567A>G (p.Ile523Val) c.1477A>G (p.Ile493Val) c.1012A>G (p.Ile338Val) c.206+2150A>G c.*1043A>G (n.*1043A>G) | dbSNP gnomAD v4 |
| 14 | g.87945578T>G | CA390746004 | GALC | c.1645A>C (p.Ile549Leu) c.1576A>C (p.Ile526Leu) c.1567A>C (p.Ile523Leu) c.1477A>C (p.Ile493Leu) c.1012A>C (p.Ile338Leu) c.206+2150A>C c.*1043A>C (n.*1043A>C) | gnomAD v4 |
| 14 | g.87945578T= | CA2153356505 | GALC | c.1645A= (p.Ile549=) c.1576A= (p.Ile526=) c.1567A= (p.Ile523=) c.1477A= (p.Ile493=) c.1012A= (p.Ile338=) c.206+2150A= c.*1043A= (n.*1043A=) | |
| 14 | g.87945579T>A | CA487355492 | GALC | c.1644A>T (p.Thr548=) c.1575A>T (p.Thr525=) c.1566A>T (p.Thr522=) c.1476A>T (p.Thr492=) c.1011A>T (p.Thr337=) c.206+2149A>T c.*1042A>T (n.*1042A>T) | gnomAD v4 |
| 14 | g.87945579T>C | CA487355491 | GALC | c.1644A>G (p.Thr548=) c.1575A>G (p.Thr525=) c.1566A>G (p.Thr522=) c.1476A>G (p.Thr492=) c.1011A>G (p.Thr337=) c.206+2149A>G c.*1042A>G (n.*1042A>G) | |
| 14 | g.87945579T>G | CA487355490 | GALC | c.1644A>C (p.Thr548=) c.1575A>C (p.Thr525=) c.1566A>C (p.Thr522=) c.1476A>C (p.Thr492=) c.1011A>C (p.Thr337=) c.206+2149A>C c.*1042A>C (n.*1042A>C) | |
| 14 | g.87945580G>A | CA390746005 | GALC | c.1643C>T (p.Thr548Ile) c.1574C>T (p.Thr525Ile) c.1565C>T (p.Thr522Ile) c.1475C>T (p.Thr492Ile) c.1010C>T (p.Thr337Ile) c.206+2148C>T c.*1041C>T (n.*1041C>T) |