| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87965536_87965601del | CA2697554056 | GALC | c.940_1005del (p.Tyr314_Tyr335del) c.871_936del (p.Tyr291_Tyr312del) c.862_927del (p.Tyr288_Tyr309del) n.930_995del c.772_837del (p.Tyr258_Tyr279del) c.307_372del (p.Tyr103_Tyr124del) c.*338_*403del (n.*338_*403del) n.26_91del c.930_995del | ClinVar |
| 14 | g.87965586G>A | CA390747574 | GALC | c.952C>T (p.Pro318Ser) c.883C>T (p.Pro295Ser) c.874C>T (p.Pro292Ser) n.942C>T c.784C>T (p.Pro262Ser) c.319C>T (p.Pro107Ser) c.*350C>T (n.*350C>T) n.38C>T c.942C>T | gnomAD v4 |
| 14 | g.87965586G>C | CA16041700 | GALC | c.952C>G (p.Pro318Ala) c.883C>G (p.Pro295Ala) c.874C>G (p.Pro292Ala) n.942C>G c.784C>G (p.Pro262Ala) c.319C>G (p.Pro107Ala) c.*350C>G (n.*350C>G) n.38C>G c.942C>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.87965586G= | CA2153345225 | GALC | c.952C= (p.Pro318=) c.883C= (p.Pro295=) c.874C= (p.Pro292=) n.942C= c.784C= (p.Pro262=) c.319C= (p.Pro107=) c.*350C= (n.*350C=) n.38C= c.942C= | |
| 14 | g.87965586G>T | CA390747573 | GALC | c.952C>A (p.Pro318Thr) c.883C>A (p.Pro295Thr) c.874C>A (p.Pro292Thr) n.942C>A c.784C>A (p.Pro262Thr) c.319C>A (p.Pro107Thr) c.*350C>A (n.*350C>A) n.38C>A c.942C>A | |
| 14 | g.87965587C>A | CA390747575 | GALC | c.951G>T (p.Leu317Phe) c.882G>T (p.Leu294Phe) c.873G>T (p.Leu291Phe) n.941G>T c.783G>T (p.Leu261Phe) c.318G>T (p.Leu106Phe) c.*349G>T (n.*349G>T) n.37G>T c.941G>T | |
| 14 | g.87965587C>G | CA390747576 | GALC | c.951G>C (p.Leu317Phe) c.882G>C (p.Leu294Phe) c.873G>C (p.Leu291Phe) n.941G>C c.783G>C (p.Leu261Phe) c.318G>C (p.Leu106Phe) c.*349G>C (n.*349G>C) n.37G>C c.941G>C | |
| 14 | g.87965587C>T | CA487364932 | GALC | c.951G>A (p.Leu317=) c.882G>A (p.Leu294=) c.873G>A (p.Leu291=) n.941G>A c.783G>A (p.Leu261=) c.318G>A (p.Leu106=) c.*349G>A (n.*349G>A) n.37G>A c.941G>A | ClinVar dbSNP |
| 14 | g.87965588A>C | CA390747577 | GALC | c.950T>G (p.Leu317Trp) c.881T>G (p.Leu294Trp) c.872T>G (p.Leu291Trp) n.940T>G c.782T>G (p.Leu261Trp) c.317T>G (p.Leu106Trp) c.*348T>G (n.*348T>G) n.36T>G c.940T>G | |
| 14 | g.87965588A>G | CA390747578 | GALC | c.950T>C (p.Leu317Ser) c.881T>C (p.Leu294Ser) c.872T>C (p.Leu291Ser) n.940T>C c.782T>C (p.Leu261Ser) c.317T>C (p.Leu106Ser) c.*348T>C (n.*348T>C) n.36T>C c.940T>C | |
| 14 | g.87965588A>T | CA390747579 | GALC | c.950T>A (p.Leu317Ter) c.881T>A (p.Leu294Ter) c.872T>A (p.Leu291Ter) n.940T>A c.782T>A (p.Leu261Ter) c.317T>A (p.Leu106Ter) c.*348T>A (n.*348T>A) n.36T>A c.940T>A | |
| 14 | g.87965588_87965591dup | CA2573150262 | GALC | c.947_950dup (p.Pro318ValfsTer?) c.878_881dup (p.Pro295ValfsTer?) c.869_872dup (p.Pro292ValfsTer?) n.937_940dup c.779_782dup (p.Pro262ValfsTer?) c.314_317dup (p.Pro107ValfsTer?) c.*345_*348dup (n.*345_*348dup) n.33_36dup c.937_940dup | ClinVar dbSNP |
| 14 | g.87965589A= | CA2153345226 | GALC | c.949T= (p.Leu317=) c.880T= (p.Leu294=) c.871T= (p.Leu291=) n.939T= c.781T= (p.Leu261=) c.316T= (p.Leu106=) c.*347T= (n.*347T=) n.35T= c.939T= | |
| 14 | g.87965589A>C | CA390747580 | GALC | c.949T>G (p.Leu317Val) c.880T>G (p.Leu294Val) c.871T>G (p.Leu291Val) n.939T>G c.781T>G (p.Leu261Val) c.316T>G (p.Leu106Val) c.*347T>G (n.*347T>G) n.35T>G c.939T>G | |
| 14 | g.87965589A>G | CA487364933 | GALC | c.949T>C (p.Leu317=) c.880T>C (p.Leu294=) c.871T>C (p.Leu291=) n.939T>C c.781T>C (p.Leu261=) c.316T>C (p.Leu106=) c.*347T>C (n.*347T>C) n.35T>C c.939T>C | |
| 14 | g.87965589A>T | CA7297191 | GALC | c.949T>A (p.Leu317Met) c.880T>A (p.Leu294Met) c.871T>A (p.Leu291Met) n.939T>A c.781T>A (p.Leu261Met) c.316T>A (p.Leu106Met) c.*347T>A (n.*347T>A) n.35T>A c.939T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87965590C>A | CA390747581 | GALC | c.948G>T (p.Gln316His) c.879G>T (p.Gln293His) c.870G>T (p.Gln290His) n.938G>T c.780G>T (p.Gln260His) c.315G>T (p.Gln105His) c.*346G>T (n.*346G>T) n.34G>T c.938G>T | |
| 14 | g.87965590C>G | CA390747582 | GALC | c.948G>C (p.Gln316His) c.879G>C (p.Gln293His) c.870G>C (p.Gln290His) n.938G>C c.780G>C (p.Gln260His) c.315G>C (p.Gln105His) c.*346G>C (n.*346G>C) n.34G>C c.938G>C | |
| 14 | g.87965590C>T | CA487364934 | GALC | c.948G>A (p.Gln316=) c.879G>A (p.Gln293=) c.870G>A (p.Gln290=) n.938G>A c.780G>A (p.Gln260=) c.315G>A (p.Gln105=) c.*346G>A (n.*346G>A) n.34G>A c.938G>A | |
| 14 | g.87965591T>A | CA390747583 | GALC | c.947A>T (p.Gln316Leu) c.878A>T (p.Gln293Leu) c.869A>T (p.Gln290Leu) n.937A>T c.779A>T (p.Gln260Leu) c.314A>T (p.Gln105Leu) c.*345A>T (n.*345A>T) n.33A>T c.937A>T | |
| 14 | g.87965591T>C | CA390747584 | GALC | c.947A>G (p.Gln316Arg) c.878A>G (p.Gln293Arg) c.869A>G (p.Gln290Arg) n.937A>G c.779A>G (p.Gln260Arg) c.314A>G (p.Gln105Arg) c.*345A>G (n.*345A>G) n.33A>G c.937A>G | gnomAD v4 |
| 14 | g.87965591T>G | CA264702237 | GALC | c.947A>C (p.Gln316Pro) c.878A>C (p.Gln293Pro) c.869A>C (p.Gln290Pro) n.937A>C c.779A>C (p.Gln260Pro) c.314A>C (p.Gln105Pro) c.*345A>C (n.*345A>C) n.33A>C c.937A>C | dbSNP gnomAD v4 |
| 14 | g.87965591T= | CA2153345227 | GALC | c.947A= (p.Gln316=) c.878A= (p.Gln293=) c.869A= (p.Gln290=) n.937A= c.779A= (p.Gln260=) c.314A= (p.Gln105=) c.*345A= (n.*345A=) n.33A= c.937A= | |
| 14 | g.87965592G>A | CA16041701 | GALC | c.946C>T (p.Gln316Ter) c.877C>T (p.Gln293Ter) c.868C>T (p.Gln290Ter) n.936C>T c.778C>T (p.Gln260Ter) c.313C>T (p.Gln105Ter) c.*344C>T (n.*344C>T) n.32C>T c.936C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87965592G>C | CA390747585 | GALC | c.946C>G (p.Gln316Glu) c.877C>G (p.Gln293Glu) c.868C>G (p.Gln290Glu) n.936C>G c.778C>G (p.Gln260Glu) c.313C>G (p.Gln105Glu) c.*344C>G (n.*344C>G) n.32C>G c.936C>G | |
| 14 | g.87965592G= | CA2153345228 | GALC | c.946C= (p.Gln316=) c.877C= (p.Gln293=) c.868C= (p.Gln290=) n.936C= c.778C= (p.Gln260=) c.313C= (p.Gln105=) c.*344C= (n.*344C=) n.32C= c.936C= | |
| 14 | g.87965592G>T | CA7297192 | GALC | c.946C>A (p.Gln316Lys) c.877C>A (p.Gln293Lys) c.868C>A (p.Gln290Lys) n.936C>A c.778C>A (p.Gln260Lys) c.313C>A (p.Gln105Lys) c.*344C>A (n.*344C>A) n.32C>A c.936C>A | dbSNP ExAC |
| 14 | g.87965593T>A | CA390747586 | GALC | c.945A>T (p.Glu315Asp) c.876A>T (p.Glu292Asp) c.867A>T (p.Glu289Asp) n.935A>T c.777A>T (p.Glu259Asp) c.312A>T (p.Glu104Asp) c.*343A>T (n.*343A>T) n.31A>T c.935A>T | |
| 14 | g.87965593T>C | CA487364935 | GALC | c.945A>G (p.Glu315=) c.876A>G (p.Glu292=) c.867A>G (p.Glu289=) n.935A>G c.777A>G (p.Glu259=) c.312A>G (p.Glu104=) c.*343A>G (n.*343A>G) n.31A>G c.935A>G | ClinVar dbSNP |
| 14 | g.87965593T>G | CA390747587 | GALC | c.945A>C (p.Glu315Asp) c.876A>C (p.Glu292Asp) c.867A>C (p.Glu289Asp) n.935A>C c.777A>C (p.Glu259Asp) c.312A>C (p.Glu104Asp) c.*343A>C (n.*343A>C) n.31A>C c.935A>C | |
| 14 | g.87965594T>A | CA390747588 | GALC | c.944A>T (p.Glu315Val) c.875A>T (p.Glu292Val) c.866A>T (p.Glu289Val) n.934A>T c.776A>T (p.Glu259Val) c.311A>T (p.Glu104Val) c.*342A>T (n.*342A>T) n.30A>T c.934A>T | |
| 14 | g.87965594T>C | CA390747589 | GALC | c.944A>G (p.Glu315Gly) c.875A>G (p.Glu292Gly) c.866A>G (p.Glu289Gly) n.934A>G c.776A>G (p.Glu259Gly) c.311A>G (p.Glu104Gly) c.*342A>G (n.*342A>G) n.30A>G c.934A>G | |
| 14 | g.87965594T>G | CA390747590 | GALC | c.944A>C (p.Glu315Ala) c.875A>C (p.Glu292Ala) c.866A>C (p.Glu289Ala) n.934A>C c.776A>C (p.Glu259Ala) c.311A>C (p.Glu104Ala) c.*342A>C (n.*342A>C) n.30A>C c.934A>C | |
| 14 | g.87965594_87965595delinsTC | CA2153345229 | GALC | c.943_944delinsGA (p.Glu315=) c.874_875delinsGA (p.Glu292=) c.865_866delinsGA (p.Glu289=) n.933_934delinsGA c.775_776delinsGA (p.Glu259=) c.310_311delinsGA (p.Glu104=) c.*341_*342delinsGA (n.*341_*342delinsGA) n.29_30delinsGA c.933_934delinsGA | |
| 14 | g.87965595del | CA1139663598 | GALC | c.943del (p.Glu315AsnfsTer10) c.874del (p.Glu292AsnfsTer10) c.865del (p.Glu289AsnfsTer10) n.933del c.775del (p.Glu259AsnfsTer10) c.310del (p.Glu104AsnfsTer10) c.*341del (n.*341del) n.29del c.933del | ClinVar dbSNP |
| 14 | g.87965595C>A | CA390747591 | GALC | c.943G>T (p.Glu315Ter) c.874G>T (p.Glu292Ter) c.865G>T (p.Glu289Ter) n.933G>T c.775G>T (p.Glu259Ter) c.310G>T (p.Glu104Ter) c.*341G>T (n.*341G>T) n.29G>T c.933G>T | |
| 14 | g.87965595C= | CA2153345230 | GALC | c.943G= (p.Glu315=) c.874G= (p.Glu292=) c.865G= (p.Glu289=) n.933G= c.775G= (p.Glu259=) c.310G= (p.Glu104=) c.*341G= (n.*341G=) n.29G= c.933G= | |
| 14 | g.87965595C>G | CA390747592 | GALC | c.943G>C (p.Glu315Gln) c.874G>C (p.Glu292Gln) c.865G>C (p.Glu289Gln) n.933G>C c.775G>C (p.Glu259Gln) c.310G>C (p.Glu104Gln) c.*341G>C (n.*341G>C) n.29G>C c.933G>C | |
| 14 | g.87965595C>T | CA390747593 | GALC | c.943G>A (p.Glu315Lys) c.874G>A (p.Glu292Lys) c.865G>A (p.Glu289Lys) n.933G>A c.775G>A (p.Glu259Lys) c.310G>A (p.Glu104Lys) c.*341G>A (n.*341G>A) n.29G>A c.933G>A | dbSNP |
| 14 | g.87965596A>C | CA390747594 | GALC | c.942T>G (p.Tyr314Ter) c.873T>G (p.Tyr291Ter) c.864T>G (p.Tyr288Ter) n.932T>G c.774T>G (p.Tyr258Ter) c.309T>G (p.Tyr103Ter) c.*340T>G (n.*340T>G) n.28T>G c.932T>G | |
| 14 | g.87965596A>G | CA487364936 | GALC | c.942T>C (p.Tyr314=) c.873T>C (p.Tyr291=) c.864T>C (p.Tyr288=) n.932T>C c.774T>C (p.Tyr258=) c.309T>C (p.Tyr103=) c.*340T>C (n.*340T>C) n.28T>C c.932T>C | ClinVar dbSNP |
| 14 | g.87965596A>T | CA390747595 | GALC | c.942T>A (p.Tyr314Ter) c.873T>A (p.Tyr291Ter) c.864T>A (p.Tyr288Ter) n.932T>A c.774T>A (p.Tyr258Ter) c.309T>A (p.Tyr103Ter) c.*340T>A (n.*340T>A) n.28T>A c.932T>A | |
| 14 | g.87965597T>A | CA390747596 | GALC | c.941A>T (p.Tyr314Phe) c.872A>T (p.Tyr291Phe) c.863A>T (p.Tyr288Phe) n.931A>T c.773A>T (p.Tyr258Phe) c.308A>T (p.Tyr103Phe) c.*339A>T (n.*339A>T) n.27A>T c.931A>T | |
| 14 | g.87965597T>C | CA390747597 | GALC | c.941A>G (p.Tyr314Cys) c.872A>G (p.Tyr291Cys) c.863A>G (p.Tyr288Cys) n.931A>G c.773A>G (p.Tyr258Cys) c.308A>G (p.Tyr103Cys) c.*339A>G (n.*339A>G) n.27A>G c.931A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.87965597T>G | CA390747598 | GALC | c.941A>C (p.Tyr314Ser) c.872A>C (p.Tyr291Ser) c.863A>C (p.Tyr288Ser) n.931A>C c.773A>C (p.Tyr258Ser) c.308A>C (p.Tyr103Ser) c.*339A>C (n.*339A>C) n.27A>C c.931A>C | gnomAD v4 |
| 14 | g.87965597T= | CA2153345231 | GALC | c.941A= (p.Tyr314=) c.872A= (p.Tyr291=) c.863A= (p.Tyr288=) n.931A= c.773A= (p.Tyr258=) c.308A= (p.Tyr103=) c.*339A= (n.*339A=) n.27A= c.931A= | |
| 14 | g.87965599_87965601del | CA2695219633 | GALC | c.939_941del (p.Tyr314del) c.870_872del (p.Tyr291del) c.861_863del (p.Tyr288del) n.929_931del c.771_773del (p.Tyr258del) c.306_308del (p.Tyr103del) c.*337_*339del (n.*337_*339del) n.25_27del c.929_931del | |
| 14 | g.87965598A>C | CA390747601 | GALC | c.940T>G (p.Tyr314Asp) c.871T>G (p.Tyr291Asp) c.862T>G (p.Tyr288Asp) n.930T>G c.772T>G (p.Tyr258Asp) c.307T>G (p.Tyr103Asp) c.*338T>G (n.*338T>G) n.26T>G c.930T>G | |
| 14 | g.87965598A>G | CA390747600 | GALC | c.940T>C (p.Tyr314His) c.871T>C (p.Tyr291His) c.862T>C (p.Tyr288His) n.930T>C c.772T>C (p.Tyr258His) c.307T>C (p.Tyr103His) c.*338T>C (n.*338T>C) n.26T>C c.930T>C | ClinVar dbSNP |
| 14 | g.87965598A>T | CA390747599 | GALC | c.940T>A (p.Tyr314Asn) c.871T>A (p.Tyr291Asn) c.862T>A (p.Tyr288Asn) n.930T>A c.772T>A (p.Tyr258Asn) c.307T>A (p.Tyr103Asn) c.*338T>A (n.*338T>A) n.26T>A c.930T>A |