| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.74718804C>A | CA360070171 | HEXB | c.1250C>A (p.Pro417Gln) c.126C>A n.447C>A c.575C>A (p.Pro192Gln) c.186C>A n.74-105C>A | |
| 5 | g.74718804C= | CA1555781573 | HEXB | c.1250C= (p.Pro417=) c.126C= n.447C= c.575C= (p.Pro192=) c.186C= n.74-105C= | |
| 5 | g.74718804C>G | CA360070172 | HEXB | c.1250C>G (p.Pro417Arg) c.126C>G n.447C>G c.575C>G (p.Pro192Arg) c.186C>G n.74-105C>G | |
| 5 | g.74718804C>T | CA116485 | HEXB | c.1250C>T (p.Pro417Leu) c.126C>T n.447C>T c.575C>T (p.Pro192Leu) c.186C>T n.74-105C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.74718805G>A | CA3306091 | HEXB | c.1251G>A (p.Pro417=) c.127G>A n.448G>A c.576G>A (p.Pro192=) c.187G>A n.74-104G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.74718805G>C | CA444848881 | HEXB | c.1251G>C (p.Pro417=) c.127G>C n.448G>C c.576G>C (p.Pro192=) c.187G>C n.74-104G>C | ClinVar |
| 5 | g.74718805G= | CA1555781578 | HEXB | c.1251G= (p.Pro417=) c.127G= n.448G= c.576G= (p.Pro192=) c.187G= n.74-104G= | |
| 5 | g.74718805G>T | CA444848880 | HEXB | c.1251G>T (p.Pro417=) c.127G>T n.448G>T c.576G>T (p.Pro192=) c.187G>T n.74-104G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.74718806G>A | CA360070173 | HEXB | c.1252G>A (p.Gly418Ser) c.128G>A n.449G>A c.577G>A (p.Gly193Ser) c.188G>A n.74-103G>A | gnomAD v4 |
| 5 | g.74718806G>C | CA360070174 | HEXB | c.1252G>C (p.Gly418Arg) c.128G>C n.449G>C c.577G>C (p.Gly193Arg) c.188G>C n.74-103G>C | ClinVar COSMIC |
| 5 | g.74718806G>T | CA360070175 | HEXB | c.1252G>T (p.Gly418Cys) c.128G>T n.449G>T c.577G>T (p.Gly193Cys) c.188G>T n.74-103G>T | |
| 5 | g.74718807G>A | CA360070176 | HEXB | c.1253G>A (p.Gly418Asp) c.129G>A n.450G>A c.578G>A (p.Gly193Asp) c.189G>A n.74-102G>A | ClinVar gnomAD v4 |
| 5 | g.74718807G>C | CA360070177 | HEXB | c.1253G>C (p.Gly418Ala) c.129G>C n.450G>C c.578G>C (p.Gly193Ala) c.189G>C n.74-102G>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.74718807G= | CA1555781581 | HEXB | c.1253G= (p.Gly418=) c.129G= n.450G= c.578G= (p.Gly193=) c.189G= n.74-102G= | |
| 5 | g.74718807G>T | CA360070178 | HEXB | c.1253G>T (p.Gly418Val) c.129G>T n.450G>T c.578G>T (p.Gly193Val) c.189G>T n.74-102G>T | |
| 5 | g.74718808C>A | CA444848882 | HEXB | c.1254C>A (p.Gly418=) c.130C>A n.451C>A c.579C>A (p.Gly193=) c.190C>A n.74-101C>A | |
| 5 | g.74718808C>G | CA444848883 | HEXB | c.1254C>G (p.Gly418=) c.130C>G n.451C>G c.579C>G (p.Gly193=) c.190C>G n.74-101C>G | |
| 5 | g.74718808C>T | CA444848884 | HEXB | c.1254C>T (p.Gly418=) c.130C>T n.451C>T c.579C>T (p.Gly193=) c.190C>T n.74-101C>T | |
| 5 | g.74718809A>C | CA360070179 | HEXB | c.1255A>C (p.Thr419Pro) c.131A>C n.452A>C c.580A>C (p.Thr194Pro) c.191A>C n.74-100A>C | |
| 5 | g.74718809A>G | CA360070180 | HEXB | c.1255A>G (p.Thr419Ala) c.131A>G n.452A>G c.580A>G (p.Thr194Ala) c.191A>G n.74-100A>G | gnomAD v4 |
| 5 | g.74718809A>T | CA360070181 | HEXB | c.1255A>T (p.Thr419Ser) c.131A>T n.452A>T c.580A>T (p.Thr194Ser) c.191A>T n.74-100A>T | |
| 5 | g.74718810C>A | CA360070182 | HEXB | c.1256C>A (p.Thr419Lys) c.132C>A n.453C>A c.581C>A (p.Thr194Lys) c.192C>A n.74-99C>A | |
| 5 | g.74718810C>G | CA360070183 | HEXB | c.1256C>G (p.Thr419Arg) c.132C>G n.453C>G c.581C>G (p.Thr194Arg) c.192C>G n.74-99C>G | gnomAD v4 |
| 5 | g.74718810C>T | CA360070184 | HEXB | c.1256C>T (p.Thr419Ile) c.132C>T n.453C>T c.581C>T (p.Thr194Ile) c.192C>T n.74-99C>T | |
| 5 | g.74718811A= | CA1555781587 | HEXB | c.1257A= (p.Thr419=) c.133A= n.454A= c.582A= (p.Thr194=) c.193A= n.74-98A= | |
| 5 | g.74718811A>C | CA444848885 | HEXB | c.1257A>C (p.Thr419=) c.133A>C n.454A>C c.582A>C (p.Thr194=) c.193A>C n.74-98A>C | |
| 5 | g.74718811A>G | CA444848886 | HEXB | c.1257A>G (p.Thr419=) c.133A>G n.454A>G c.582A>G (p.Thr194=) c.193A>G n.74-98A>G | dbSNP gnomAD v4 |
| 5 | g.74718811A>T | CA444848887 | HEXB | c.1257A>T (p.Thr419=) c.133A>T n.454A>T c.582A>T (p.Thr194=) c.193A>T n.74-98A>T | |
| 5 | g.74718812A= | CA1555781591 | HEXB | c.1258A= (p.Ile420=) c.134A= n.455A= c.583A= (p.Ile195=) c.194A= n.74-97A= | |
| 5 | g.74718812A>C | CA360070186 | HEXB | c.1258A>C (p.Ile420Leu) c.134A>C n.455A>C c.583A>C (p.Ile195Leu) c.194A>C n.74-97A>C | |
| 5 | g.74718812A>G | CA3306092 | HEXB | c.1258A>G (p.Ile420Val) c.134A>G n.455A>G c.583A>G (p.Ile195Val) c.194A>G n.74-97A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.74718812A>T | CA360070185 | HEXB | c.1258A>T (p.Ile420Leu) c.134A>T n.455A>T c.583A>T (p.Ile195Leu) c.194A>T n.74-97A>T | |
| 5 | g.74718813T>A | CA360070187 | HEXB | c.1259T>A (p.Ile420Lys) c.135T>A n.456T>A c.584T>A (p.Ile195Lys) c.195T>A n.74-96T>A | |
| 5 | g.74718813T>C | CA360070189 | HEXB | c.1259T>C (p.Ile420Thr) c.135T>C n.456T>C c.584T>C (p.Ile195Thr) c.195T>C n.74-96T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.74718813T>G | CA360070188 | HEXB | c.1259T>G (p.Ile420Arg) c.135T>G n.456T>G c.584T>G (p.Ile195Arg) c.195T>G n.74-96T>G | gnomAD v4 |
| 5 | g.74718813T= | CA1555781595 | HEXB | c.1259T= (p.Ile420=) c.135T= n.456T= c.584T= (p.Ile195=) c.195T= n.74-96T= | |
| 5 | g.74718814_74718817del | CA2695204625 | HEXB | c.1260_1263del (p.Ile420MetfsTer23) c.136_139del n.457_460del c.585_588del (p.Ile195MetfsTer23) c.196_199del n.74-95_74-92del | |
| 5 | g.74718814A= | CA1555781599 | HEXB | c.1260A= (p.Ile420=) c.136A= n.457A= c.585A= (p.Ile195=) c.196A= n.74-95A= | |
| 5 | g.74718814A>C | CA444848888 | HEXB | c.1260A>C (p.Ile420=) c.136A>C n.457A>C c.585A>C (p.Ile195=) c.196A>C n.74-95A>C | |
| 5 | g.74718814A>G | CA360070190 | HEXB | c.1260A>G (p.Ile420Met) c.136A>G n.457A>G c.585A>G (p.Ile195Met) c.196A>G n.74-95A>G | dbSNP gnomAD v4 |
| 5 | g.74718814A>T | CA444848889 | HEXB | c.1260A>T (p.Ile420=) c.136A>T n.457A>T c.585A>T (p.Ile195=) c.196A>T n.74-95A>T | |
| 5 | g.74718817_74718822del | CA2695204626 | HEXB | c.1263_1268del (p.Glu422_Val423del) c.139_144del n.460_465del c.588_593del (p.Glu197_Val198del) c.199_204del n.74-92_74-87del | |
| 5 | g.74718815G>A | CA360070191 | HEXB | c.1261G>A (p.Val421Ile) c.137G>A n.458G>A c.586G>A (p.Val196Ile) c.197G>A n.74-94G>A | |
| 5 | g.74718815G>C | CA360070192 | HEXB | c.1261G>C (p.Val421Leu) c.137G>C n.458G>C c.586G>C (p.Val196Leu) c.197G>C n.74-94G>C | |
| 5 | g.74718815G>T | CA360070193 | HEXB | c.1261G>T (p.Val421Phe) c.137G>T n.458G>T c.586G>T (p.Val196Phe) c.197G>T n.74-94G>T | gnomAD v4 |
| 5 | g.74718816T>A | CA360070194 | HEXB | c.1262T>A (p.Val421Asp) c.138T>A n.459T>A c.587T>A (p.Val196Asp) c.198T>A n.74-93T>A | |
| 5 | g.74718816T>C | CA360070195 | HEXB | c.1262T>C (p.Val421Ala) c.138T>C n.459T>C c.587T>C (p.Val196Ala) c.198T>C n.74-93T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.74718816T>G | CA360070196 | HEXB | c.1262T>G (p.Val421Gly) c.138T>G n.459T>G c.587T>G (p.Val196Gly) c.198T>G n.74-93T>G | |
| 5 | g.74718816T= | CA1555781602 | HEXB | c.1262T= (p.Val421=) c.138T= n.459T= c.587T= (p.Val196=) c.198T= n.74-93T= | |
| 5 | g.74718817T>A | CA444848890 | HEXB | c.1263T>A (p.Val421=) c.139T>A n.460T>A c.588T>A (p.Val196=) c.199T>A n.74-92T>A |