Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.75763922G>ACA501842686GALK1c.330C>T (p.Val110=)
c.84C>T (p.Val28=)
n.327C>T
n.351C>T
 gnomAD v4 COSMIC
17g.75763922G>CCA501842687GALK1c.330C>G (p.Val110=)
c.84C>G (p.Val28=)
n.327C>G
n.351C>G
17g.75763922G=CA2275671310GALK1c.330C= (p.Val110=)
c.84C= (p.Val28=)
n.327C=
n.351C=
17g.75763922G>TCA501842688GALK1c.330C>A (p.Val110=)
c.84C>A (p.Val28=)
n.327C>A
n.351C>A
 dbSNP
17g.75763923A>CCA401106325GALK1c.329T>G (p.Val110Gly)
c.83T>G (p.Val28Gly)
n.326T>G
n.350T>G
17g.75763923A>GCA401106326GALK1c.329T>C (p.Val110Ala)
c.83T>C (p.Val28Ala)
n.326T>C
n.350T>C
17g.75763923A>TCA401106330GALK1c.329T>A (p.Val110Asp)
c.83T>A (p.Val28Asp)
n.326T>A
n.350T>A
17g.75763924C>ACA401106332GALK1c.328G>T (p.Val110Phe)
c.82G>T (p.Val28Phe)
n.325G>T
n.349G>T
17g.75763924C>GCA401106333GALK1c.328G>C (p.Val110Leu)
c.82G>C (p.Val28Leu)
n.325G>C
n.349G>C
17g.75763924C>TCA401106336GALK1c.328G>A (p.Val110Ile)
c.82G>A (p.Val28Ile)
n.325G>A
n.349G>A
17g.75763925A>CCA401106342GALK1c.327T>G (p.Tyr109Ter)
c.81T>G (p.Tyr27Ter)
n.324T>G
n.348T>G
17g.75763925A>GCA501842689GALK1c.327T>C (p.Tyr109=)
c.81T>C (p.Tyr27=)
n.324T>C
n.348T>C
17g.75763925A>TCA401106339GALK1c.327T>A (p.Tyr109Ter)
c.81T>A (p.Tyr27Ter)
n.324T>A
n.348T>A
17g.75763925dupCA2639882044GALK1c.327dup (p.Val110CysfsTer?)
c.327dup (p.Val110CysfsTer18)
c.81dup (p.Val28CysfsTer?)
n.324dup
n.348dup
 ClinVar gnomAD v4
17g.75763926T>ACA401106344GALK1c.326A>T (p.Tyr109Phe)
c.80A>T (p.Tyr27Phe)
n.323A>T
n.347A>T
17g.75763926T>CCA8770996GALK1c.326A>G (p.Tyr109Cys)
c.80A>G (p.Tyr27Cys)
n.323A>G
n.347A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763926T>GCA401106349GALK1c.326A>C (p.Tyr109Ser)
c.80A>C (p.Tyr27Ser)
n.323A>C
n.347A>C
17g.75763926T=CA2275671311GALK1c.326A= (p.Tyr109=)
c.80A= (p.Tyr27=)
n.323A=
n.347A=
17g.75763927A>CCA401106361GALK1c.325T>G (p.Tyr109Asp)
c.79T>G (p.Tyr27Asp)
n.322T>G
n.346T>G
17g.75763927A>GCA401106364GALK1c.325T>C (p.Tyr109His)
c.79T>C (p.Tyr27His)
n.322T>C
n.346T>C
17g.75763927A>TCA401106367GALK1c.325T>A (p.Tyr109Asn)
c.79T>A (p.Tyr27Asn)
n.322T>A
n.346T>A
17g.75763928G>ACA501842690GALK1c.324C>T (p.Asn108=)
c.78C>T (p.Asn26=)
n.321C>T
n.345C>T
 ClinVar dbSNP
17g.75763928G>CCA401106368GALK1c.324C>G (p.Asn108Lys)
c.78C>G (p.Asn26Lys)
n.321C>G
n.345C>G
17g.75763928G>TCA401106369GALK1c.324C>A (p.Asn108Lys)
c.78C>A (p.Asn26Lys)
n.321C>A
n.345C>A
17g.75763929T>ACA401106370GALK1c.323A>T (p.Asn108Ile)
c.77A>T (p.Asn26Ile)
n.320A>T
n.344A>T
17g.75763929T>CCA401106371GALK1c.323A>G (p.Asn108Ser)
c.77A>G (p.Asn26Ser)
n.320A>G
n.344A>G
 gnomAD v4
17g.75763929T>GCA401106375GALK1c.323A>C (p.Asn108Thr)
c.77A>C (p.Asn26Thr)
n.320A>C
n.344A>C
17g.75763930T>ACA401106383GALK1c.322A>T (p.Asn108Tyr)
c.76A>T (p.Asn26Tyr)
n.319A>T
n.343A>T
17g.75763930T>CCA401106385GALK1c.322A>G (p.Asn108Asp)
c.76A>G (p.Asn26Asp)
n.319A>G
n.343A>G
 gnomAD v4
17g.75763930T>GCA401106388GALK1c.322A>C (p.Asn108His)
c.76A>C (p.Asn26His)
n.319A>C
n.343A>C
17g.75763931G>ACA8770997GALK1c.321C>T (p.Ala107=)
c.75C>T (p.Ala25=)
n.318C>T
n.342C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763931G>CCA501842691GALK1c.321C>G (p.Ala107=)
c.75C>G (p.Ala25=)
n.318C>G
n.342C>G
17g.75763931G=CA2275671312GALK1c.321C= (p.Ala107=)
c.75C= (p.Ala25=)
n.318C=
n.342C=
17g.75763931G>TCA501842692GALK1c.321C>A (p.Ala107=)
c.75C>A (p.Ala25=)
n.318C>A
n.342C>A
17g.75763932G>ACA401106399GALK1c.320C>T (p.Ala107Val)
c.74C>T (p.Ala25Val)
n.317C>T
n.341C>T
 gnomAD v4
17g.75763932G>CCA401106396GALK1c.320C>G (p.Ala107Gly)
c.74C>G (p.Ala25Gly)
n.317C>G
n.341C>G
17g.75763932G>TCA401106401GALK1c.320C>A (p.Ala107Asp)
c.74C>A (p.Ala25Asp)
n.317C>A
n.341C>A
17g.75763933C>ACA401106406GALK1c.319G>T (p.Ala107Ser)
c.73G>T (p.Ala25Ser)
n.316G>T
n.340G>T
17g.75763933C=CA2275671313GALK1c.319G= (p.Ala107=)
c.73G= (p.Ala25=)
n.316G=
n.340G=
17g.75763933C>GCA401106419GALK1c.319G>C (p.Ala107Pro)
c.73G>C (p.Ala25Pro)
n.316G>C
n.340G>C
17g.75763933C>TCA401106421GALK1c.319G>A (p.Ala107Thr)
c.73G>A (p.Ala25Thr)
n.316G>A
n.340G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.75763934C>ACA401106424GALK1c.318G>T (p.Trp106Cys)
c.72G>T (p.Trp24Cys)
n.315G>T
n.339G>T
17g.75763934C>GCA401106426GALK1c.318G>C (p.Trp106Cys)
c.72G>C (p.Trp24Cys)
n.315G>C
n.339G>C
17g.75763934C>TCA401106430GALK1c.318G>A (p.Trp106Ter)
c.72G>A (p.Trp24Ter)
n.315G>A
n.339G>A
17g.75763935C>ACA401106434GALK1c.317G>T (p.Trp106Leu)
c.71G>T (p.Trp24Leu)
n.314G>T
n.338G>T
17g.75763935C=CA2275671314GALK1c.317G= (p.Trp106=)
c.71G= (p.Trp24=)
n.314G=
n.338G=
17g.75763935C>GCA401106435GALK1c.317G>C (p.Trp106Ser)
c.71G>C (p.Trp24Ser)
n.314G>C
n.338G>C
17g.75763935C>TCA401106436GALK1c.317G>A (p.Trp106Ter)
c.71G>A (p.Trp24Ter)
n.314G>A
n.338G>A
 ClinVar dbSNP
17g.75763936A>CCA401106437GALK1c.316T>G (p.Trp106Gly)
c.70T>G (p.Trp24Gly)
n.313T>G
n.337T>G
17g.75763936A>GCA401106438GALK1c.316T>C (p.Trp106Arg)
c.70T>C (p.Trp24Arg)
n.313T>C
n.337T>C
17g.75763936A>TCA401106439GALK1c.316T>A (p.Trp106Arg)
c.70T>A (p.Trp24Arg)
n.313T>A
n.337T>A
17g.75763937C>ACA501842693GALK1c.315G>T (p.Arg105=)
c.69G>T (p.Arg23=)
n.312G>T
n.336G>T
17g.75763937C>GCA501842694GALK1c.315G>C (p.Arg105=)
c.69G>C (p.Arg23=)
n.312G>C
n.336G>C
17g.75763937C>TCA501842695GALK1c.315G>A (p.Arg105=)
c.69G>A (p.Arg23=)
n.312G>A
n.336G>A
17g.75763938C>ACA401106457GALK1c.314G>T (p.Arg105Leu)
c.68G>T (p.Arg23Leu)
n.311G>T
n.335G>T
17g.75763938C=CA2275671315GALK1c.314G= (p.Arg105=)
c.68G= (p.Arg23=)
n.311G=
n.335G=
17g.75763938C>GCA401106454GALK1c.314G>C (p.Arg105Pro)
c.68G>C (p.Arg23Pro)
n.311G>C
n.335G>C
 dbSNP
17g.75763938C>TCA8770998GALK1c.314G>A (p.Arg105Gln)
c.68G>A (p.Arg23Gln)
n.311G>A
n.335G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763939G>ACA8770999GALK1c.313C>T (p.Arg105Trp)
c.67C>T (p.Arg23Trp)
n.310C>T
n.334C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75763939G>CCA401106488GALK1c.313C>G (p.Arg105Gly)
c.67C>G (p.Arg23Gly)
n.310C>G
n.334C>G
17g.75763939G=CA2275671316GALK1c.313C= (p.Arg105=)
c.67C= (p.Arg23=)
n.310C=
n.334C=
17g.75763939G>TCA501842696GALK1c.313C>A (p.Arg105=)
c.67C>A (p.Arg23=)
n.310C>A
n.334C>A
17g.75763940A>CCA501842697GALK1c.312T>G (p.Pro104=)
c.66T>G (p.Pro22=)
n.309T>G
n.333T>G
 gnomAD v4
17g.75763940A>GCA501842698GALK1c.312T>C (p.Pro104=)
c.66T>C (p.Pro22=)
n.309T>C
n.333T>C
 gnomAD v4
17g.75763940A>TCA501842699GALK1c.312T>A (p.Pro104=)
c.66T>A (p.Pro22=)
n.309T>A
n.333T>A
17g.75763941G>ACA401106494GALK1c.311C>T (p.Pro104Leu)
c.65C>T (p.Pro22Leu)
n.308C>T
n.332C>T
 dbSNP gnomAD v2 gnomAD v4
17g.75763941G>CCA401106495GALK1c.311C>G (p.Pro104Arg)
c.65C>G (p.Pro22Arg)
n.308C>G
n.332C>G
17g.75763941G=CA2275671318GALK1c.311C= (p.Pro104=)
c.65C= (p.Pro22=)
n.308C=
n.332C=
17g.75763941G>TCA401106496GALK1c.311C>A (p.Pro104His)
c.65C>A (p.Pro22His)
n.308C>A
n.332C>A
17g.75763941_75763958delinsGGAGTCCCAGGCTCCAGCCA2275671317GALK1c.294_311delinsGCTGGAGCCTGGGACTCC (p.Ser98=)
c.48_65delinsGCTGGAGCCTGGGACTCC (p.Ser16=)
n.291_308delinsGCTGGAGCCTGGGACTCC
n.315_332delinsGCTGGAGCCTGGGACTCC
17g.75763942G>ACA401106498GALK1c.310C>T (p.Pro104Ser)
c.64C>T (p.Pro22Ser)
n.307C>T
n.331C>T
17g.75763942G>CCA401106501GALK1c.310C>G (p.Pro104Ala)
c.64C>G (p.Pro22Ala)
n.307C>G
n.331C>G
17g.75763942G>TCA401106524GALK1c.310C>A (p.Pro104Thr)
c.64C>A (p.Pro22Thr)
n.307C>A
n.331C>A
17g.75763945_75763961delCA8771000GALK1c.294_310del (p.Leu99SerfsTer?)
c.294_310del (p.Leu99SerfsTer23)
c.48_64del (p.Leu17SerfsTer?)
n.291_307del
n.315_331del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763943A>CCA501842700GALK1c.309T>G (p.Thr103=)
c.63T>G (p.Thr21=)
n.306T>G
n.330T>G
17g.75763943A>GCA501842701GALK1c.309T>C (p.Thr103=)
c.63T>C (p.Thr21=)
n.306T>C
n.330T>C
17g.75763943A>TCA501842702GALK1c.309T>A (p.Thr103=)
c.63T>A (p.Thr21=)
n.306T>A
n.330T>A
17g.75763944G>ACA401106530GALK1c.308C>T (p.Thr103Ile)
c.62C>T (p.Thr21Ile)
n.305C>T
n.329C>T
17g.75763944G>CCA401106532GALK1c.308C>G (p.Thr103Ser)
c.62C>G (p.Thr21Ser)
n.305C>G
n.329C>G
 gnomAD v4
17g.75763944G>TCA401106535GALK1c.308C>A (p.Thr103Asn)
c.62C>A (p.Thr21Asn)
n.305C>A
n.329C>A
17g.75763945T>ACA401106540GALK1c.307A>T (p.Thr103Ser)
c.61A>T (p.Thr21Ser)
n.304A>T
n.328A>T
 gnomAD v4
17g.75763945T>CCA401106544GALK1c.307A>G (p.Thr103Ala)
c.61A>G (p.Thr21Ala)
n.304A>G
n.328A>G
17g.75763945T>GCA401106542GALK1c.307A>C (p.Thr103Pro)
c.61A>C (p.Thr21Pro)
n.304A>C
n.328A>C
17g.75763945_75763946delinsTCCA2275671319GALK1c.306_307delinsGA (p.Gly102=)
c.60_61delinsGA (p.Gly20=)
n.303_304delinsGA
n.327_328delinsGA
17g.75763946C>ACA501842703GALK1c.306G>T (p.Gly102=)
c.60G>T (p.Gly20=)
n.303G>T
n.327G>T
17g.75763946C>GCA501842704GALK1c.306G>C (p.Gly102=)
c.60G>C (p.Gly20=)
n.303G>C
n.327G>C
17g.75763946C>TCA501842705GALK1c.306G>A (p.Gly102=)
c.60G>A (p.Gly20=)
n.303G>A
n.327G>A
17g.75763948delCA401106548GALK1c.306del (p.Thr103LeufsTer11)
c.60del (p.Thr21LeufsTer11)
n.303del
n.327del
 dbSNP
17g.75763947C>ACA401106552GALK1c.305G>T (p.Gly102Val)
c.59G>T (p.Gly20Val)
n.302G>T
n.326G>T
17g.75763947C>GCA401106561GALK1c.305G>C (p.Gly102Ala)
c.59G>C (p.Gly20Ala)
n.302G>C
n.326G>C
17g.75763947C>TCA401106565GALK1c.305G>A (p.Gly102Glu)
c.59G>A (p.Gly20Glu)
n.302G>A
n.326G>A
17g.75763948C>ACA401106572GALK1c.304G>T (p.Gly102Trp)
c.58G>T (p.Gly20Trp)
n.301G>T
n.325G>T
17g.75763948C>GCA401106569GALK1c.304G>C (p.Gly102Arg)
c.58G>C (p.Gly20Arg)
n.301G>C
n.325G>C
17g.75763948C>TCA401106574GALK1c.304G>A (p.Gly102Arg)
c.58G>A (p.Gly20Arg)
n.301G>A
n.325G>A
17g.75763949A>CCA501842707GALK1c.303T>G (p.Pro101=)
c.57T>G (p.Pro19=)
n.300T>G
n.324T>G
17g.75763949A>GCA501842708GALK1c.303T>C (p.Pro101=)
c.57T>C (p.Pro19=)
n.300T>C
n.324T>C
17g.75763949A>TCA501842709GALK1c.303T>A (p.Pro101=)
c.57T>A (p.Pro19=)
n.300T>A
n.324T>A
17g.75763950G>ACA401106576GALK1c.302C>T (p.Pro101Leu)
c.56C>T (p.Pro19Leu)
n.299C>T
n.323C>T
 gnomAD v4
17g.75763950G>CCA401106579GALK1c.302C>G (p.Pro101Arg)
c.56C>G (p.Pro19Arg)
n.299C>G
n.323C>G
 dbSNP
17g.75763950G=CA2275671320GALK1c.302C= (p.Pro101=)
c.56C= (p.Pro19=)
n.299C=
n.323C=
17g.75763950G>TCA401106592GALK1c.302C>A (p.Pro101His)
c.56C>A (p.Pro19His)
n.299C>A
n.323C>A
17g.75763951G>ACA8771001GALK1c.301C>T (p.Pro101Ser)
c.55C>T (p.Pro19Ser)
n.298C>T
n.322C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763951G>CCA401106628GALK1c.301C>G (p.Pro101Ala)
c.55C>G (p.Pro19Ala)
n.298C>G
n.322C>G
 dbSNP
17g.75763951G=CA2275671321GALK1c.301C= (p.Pro101=)
c.55C= (p.Pro19=)
n.298C=
n.322C=
17g.75763951G>TCA401106631GALK1c.301C>A (p.Pro101Thr)
c.55C>A (p.Pro19Thr)
n.298C>A
n.322C>A
 dbSNP gnomAD v2 gnomAD v4
17g.75763952C>ACA401106636GALK1c.300G>T (p.Glu100Asp)
c.54G>T (p.Glu18Asp)
n.297G>T
n.321G>T
17g.75763952C=CA2275671322GALK1c.300G= (p.Glu100=)
c.54G= (p.Glu18=)
n.297G=
n.321G=
17g.75763952C>GCA401106638GALK1c.300G>C (p.Glu100Asp)
c.54G>C (p.Glu18Asp)
n.297G>C
n.321G>C
 dbSNP
17g.75763952C>TCA8771002GALK1c.300G>A (p.Glu100=)
c.54G>A (p.Glu18=)
n.297G>A
n.321G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75763953T>ACA401106639GALK1c.299A>T (p.Glu100Val)
c.53A>T (p.Glu18Val)
n.296A>T
n.320A>T
17g.75763953T>CCA401106640GALK1c.299A>G (p.Glu100Gly)
c.53A>G (p.Glu18Gly)
n.296A>G
n.320A>G
17g.75763953T>GCA401106641GALK1c.299A>C (p.Glu100Ala)
c.53A>C (p.Glu18Ala)
n.296A>C
n.320A>C
17g.75763954C>ACA401106643GALK1c.298G>T (p.Glu100Ter)
c.52G>T (p.Glu18Ter)
n.295G>T
n.319G>T
 ClinVar dbSNP
17g.75763954C=CA2275671323GALK1c.298G= (p.Glu100=)
c.52G= (p.Glu18=)
n.295G=
n.319G=
17g.75763954C>GCA401106649GALK1c.298G>C (p.Glu100Gln)
c.52G>C (p.Glu18Gln)
n.295G>C
n.319G>C
17g.75763954C>TCA401106645GALK1c.298G>A (p.Glu100Lys)
c.52G>A (p.Glu18Lys)
n.295G>A
n.319G>A
 gnomAD v4
17g.75763955C>ACA501842712GALK1c.297G>T (p.Leu99=)
c.51G>T (p.Leu17=)
n.294G>T
n.318G>T
17g.75763955C=CA2275671324GALK1c.297G= (p.Leu99=)
c.51G= (p.Leu17=)
n.294G=
n.318G=
17g.75763955C>GCA501842711GALK1c.297G>C (p.Leu99=)
c.51G>C (p.Leu17=)
n.294G>C
n.318G>C
17g.75763955C>TCA501842710GALK1c.297G>A (p.Leu99=)
c.51G>A (p.Leu17=)
n.294G>A
n.318G>A
 ClinVar dbSNP gnomAD v4
17g.75763956A=CA2275671325GALK1c.296T= (p.Leu99=)
c.50T= (p.Leu17=)
n.293T=
n.317T=
17g.75763956A>CCA401106662GALK1c.296T>G (p.Leu99Arg)
c.50T>G (p.Leu17Arg)
n.293T>G
n.317T>G
17g.75763956A>GCA8771003GALK1c.296T>C (p.Leu99Pro)
c.50T>C (p.Leu17Pro)
n.293T>C
n.317T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763956A>TCA401106668GALK1c.296T>A (p.Leu99Gln)
c.50T>A (p.Leu17Gln)
n.293T>A
n.317T>A
17g.75763957G>ACA501842713GALK1c.295C>T (p.Leu99=)
c.49C>T (p.Leu17=)
n.292C>T
n.316C>T
 ClinVar dbSNP
17g.75763957G>CCA401106673GALK1c.295C>G (p.Leu99Val)
c.49C>G (p.Leu17Val)
n.292C>G
n.316C>G
17g.75763957G=CA2275671326GALK1c.295C= (p.Leu99=)
c.49C= (p.Leu17=)
n.292C=
n.316C=
17g.75763957G>TCA401106677GALK1c.295C>A (p.Leu99Met)
c.49C>A (p.Leu17Met)
n.292C>A
n.316C>A
17g.75763958C>ACA8771004GALK1c.294G>T (p.Ser98=)
c.48G>T (p.Ser16=)
n.291G>T
n.315G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75763958C=CA2275671327GALK1c.294G= (p.Ser98=)
c.48G= (p.Ser16=)
n.291G=
n.315G=
17g.75763958C>GCA501842715GALK1c.294G>C (p.Ser98=)
c.48G>C (p.Ser16=)
n.291G>C
n.315G>C
 ClinVar dbSNP
17g.75763958C>TCA501842714GALK1c.294G>A (p.Ser98=)
c.48G>A (p.Ser16=)
n.291G>A
n.315G>A
 ClinVar dbSNP gnomAD v4
17g.75763959G>ACA8771005GALK1c.293C>T (p.Ser98Leu)
c.47C>T (p.Ser16Leu)
n.290C>T
n.314C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75763959G>CCA401106687GALK1c.293C>G (p.Ser98Trp)
c.47C>G (p.Ser16Trp)
n.290C>G
n.314C>G
17g.75763959G=CA2275671328GALK1c.293C= (p.Ser98=)
c.47C= (p.Ser16=)
n.290C=
n.314C=
17g.75763959G>TCA401106692GALK1c.293C>A (p.Ser98Ter)
c.47C>A (p.Ser16Ter)
n.290C>A
n.314C>A
 gnomAD v4
17g.75763960A>CCA401106705GALK1c.292T>G (p.Ser98Ala)
c.46T>G (p.Ser16Ala)
n.289T>G
n.313T>G
17g.75763960A>GCA401106708GALK1c.292T>C (p.Ser98Pro)
c.46T>C (p.Ser16Pro)
n.289T>C
n.313T>C
17g.75763960A>TCA401106702GALK1c.292T>A (p.Ser98Thr)
c.46T>A (p.Ser16Thr)
n.289T>A
n.313T>A
17g.75763961G>ACA501842716GALK1c.291C>T (p.Arg97=)
c.45C>T (p.Arg15=)
n.288C>T
n.312C>T
17g.75763961G>CCA8771006GALK1c.291C>G (p.Arg97=)
c.45C>G (p.Arg15=)
n.288C>G
n.312C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75763961G=CA2275671329GALK1c.291C= (p.Arg97=)
c.45C= (p.Arg15=)
n.288C=
n.312C=
17g.75763961G>TCA501842717GALK1c.291C>A (p.Arg97=)
c.45C>A (p.Arg15=)
n.288C>A
n.312C>A
17g.75763962C>ACA401106709GALK1c.290G>T (p.Arg97Leu)
c.44G>T (p.Arg15Leu)
n.287G>T
n.311G>T
17g.75763962C=CA2275671330GALK1c.290G= (p.Arg97=)
c.44G= (p.Arg15=)
n.287G=
n.311G=
17g.75763962C>GCA401106710GALK1c.290G>C (p.Arg97Pro)
c.44G>C (p.Arg15Pro)
n.287G>C
n.311G>C
 dbSNP gnomAD v3 gnomAD v4
17g.75763962C>TCA8771007GALK1c.290G>A (p.Arg97His)
c.44G>A (p.Arg15His)
n.287G>A
n.311G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75763963G>ACA8771009GALK1c.289C>T (p.Arg97Cys)
c.43C>T (p.Arg15Cys)
n.286C>T
n.310C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75763963G>CCA8771008GALK1c.289C>G (p.Arg97Gly)
c.43C>G (p.Arg15Gly)
n.286C>G
n.310C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763963G=CA2275671331GALK1c.289C= (p.Arg97=)
c.43C= (p.Arg15=)
n.286C=
n.310C=
17g.75763963G>TCA401106715GALK1c.289C>A (p.Arg97Ser)
c.43C>A (p.Arg15Ser)
n.286C>A
n.310C>A
 dbSNP gnomAD v2 gnomAD v4
17g.75763964C>ACA401106719GALK1c.288G>T (p.Gln96His)
c.42G>T (p.Gln14His)
n.285G>T
n.309G>T
 gnomAD v4
17g.75763964C>GCA401106721GALK1c.288G>C (p.Gln96His)
c.42G>C (p.Gln14His)
n.285G>C
n.309G>C
17g.75763964C>TCA501842718GALK1c.288G>A (p.Gln96=)
c.42G>A (p.Gln14=)
n.285G>A
n.309G>A
17g.75763965T>ACA401106726GALK1c.287A>T (p.Gln96Leu)
c.41A>T (p.Gln14Leu)
n.284A>T
n.308A>T
17g.75763965T>CCA401106745GALK1c.287A>G (p.Gln96Arg)
c.41A>G (p.Gln14Arg)
n.284A>G
n.308A>G
17g.75763965T>GCA401106749GALK1c.287A>C (p.Gln96Pro)
c.41A>C (p.Gln14Pro)
n.284A>C
n.308A>C
 gnomAD v4
17g.75763966G>ACA401106758GALK1c.286C>T (p.Gln96Ter)
c.40C>T (p.Gln14Ter)
n.283C>T
n.307C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.75763966G>CCA401106753GALK1c.286C>G (p.Gln96Glu)
c.40C>G (p.Gln14Glu)
n.283C>G
n.307C>G
17g.75763966G=CA2275671332GALK1c.286C= (p.Gln96=)
c.40C= (p.Gln14=)
n.283C=
n.307C=
17g.75763966G>TCA401106756GALK1c.286C>A (p.Gln96Lys)
c.40C>A (p.Gln14Lys)
n.283C>A
n.307C>A
17g.75763967G>ACA501842719GALK1c.285C>T (p.Ala95=)
c.39C>T (p.Ala13=)
n.282C>T
n.306C>T
17g.75763967G>CCA501842721GALK1c.285C>G (p.Ala95=)
c.39C>G (p.Ala13=)
n.282C>G
n.306C>G
17g.75763967G>TCA501842722GALK1c.285C>A (p.Ala95=)
c.39C>A (p.Ala13=)
n.282C>A
n.306C>A
17g.75763968G>ACA8771010GALK1c.284C>T (p.Ala95Val)
c.38C>T (p.Ala13Val)
n.281C>T
n.305C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763968G>CCA401106760GALK1c.284C>G (p.Ala95Gly)
c.38C>G (p.Ala13Gly)
n.281C>G
n.305C>G
17g.75763968G=CA2275671333GALK1c.284C= (p.Ala95=)
c.38C= (p.Ala13=)
n.281C=
n.305C=
17g.75763968G>TCA401106762GALK1c.284C>A (p.Ala95Asp)
c.38C>A (p.Ala13Asp)
n.281C>A
n.305C>A
17g.75763969C>ACA401106767GALK1c.283G>T (p.Ala95Ser)
c.37G>T (p.Ala13Ser)
n.280G>T
n.304G>T
 gnomAD v4
17g.75763969C=CA2275671334GALK1c.283G= (p.Ala95=)
c.37G= (p.Ala13=)
n.280G=
n.304G=
17g.75763969C>GCA401106770GALK1c.283G>C (p.Ala95Pro)
c.37G>C (p.Ala13Pro)
n.280G>C
n.304G>C
17g.75763969C>TCA401106779GALK1c.283G>A (p.Ala95Thr)
c.37G>A (p.Ala13Thr)
n.280G>A
n.304G>A
 dbSNP gnomAD v2 gnomAD v4
17g.75763970T>ACA501842723GALK1c.282A>T (p.Thr94=)
c.36A>T (p.Thr12=)
n.279A>T
n.303A>T
17g.75763970T>CCA501842724GALK1c.282A>G (p.Thr94=)
c.36A>G (p.Thr12=)
n.279A>G
n.303A>G
17g.75763970T>GCA501842725GALK1c.282A>C (p.Thr94=)
c.36A>C (p.Thr12=)
n.279A>C
n.303A>C
17g.75763971G>ACA401106791GALK1c.281C>T (p.Thr94Ile)
c.35C>T (p.Thr12Ile)
n.278C>T
n.302C>T
17g.75763971G>CCA401106793GALK1c.281C>G (p.Thr94Arg)
c.35C>G (p.Thr12Arg)
n.278C>G
n.302C>G
17g.75763971G>TCA401106797GALK1c.281C>A (p.Thr94Lys)
c.35C>A (p.Thr12Lys)
n.278C>A
n.302C>A
 gnomAD v4
17g.75763975_75763981dupCA2695226963GALK1c.275_281dup (p.Gln96HisfsTer?)
c.29_35dup (p.Gln14HisfsTer?)
n.272_278dup
n.296_302dup
17g.75763972T>ACA401106798GALK1c.280A>T (p.Thr94Ser)
c.34A>T (p.Thr12Ser)
n.277A>T
n.301A>T
17g.75763972T>CCA401106804GALK1c.280A>G (p.Thr94Ala)
c.34A>G (p.Thr12Ala)
n.277A>G
n.301A>G
 dbSNP
17g.75763972T>GCA401106806GALK1c.280A>C (p.Thr94Pro)
c.34A>C (p.Thr12Pro)
n.277A>C
n.301A>C
17g.75763972T=CA2275671335GALK1c.280A= (p.Thr94=)
c.34A= (p.Thr12=)
n.277A=
n.301A=
17g.75763973G>ACA501842729GALK1c.279C>T (p.Pro93=)
c.33C>T (p.Pro11=)
n.276C>T
n.300C>T
 gnomAD v4
17g.75763973G>CCA8771011GALK1c.279C>G (p.Pro93=)
c.33C>G (p.Pro11=)
n.276C>G
n.300C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763973G=CA2275671336GALK1c.279C= (p.Pro93=)
c.33C= (p.Pro11=)
n.276C=
n.300C=
17g.75763973G>TCA501842730GALK1c.279C>A (p.Pro93=)
c.33C>A (p.Pro11=)
n.276C>A
n.300C>A
17g.75763974G>ACA401106825GALK1c.278C>T (p.Pro93Leu)
c.32C>T (p.Pro11Leu)
n.275C>T
n.299C>T
 gnomAD v4
17g.75763974G>CCA401106828GALK1c.278C>G (p.Pro93Arg)
c.32C>G (p.Pro11Arg)
n.275C>G
n.299C>G
17g.75763974G>TCA401106823GALK1c.278C>A (p.Pro93His)
c.32C>A (p.Pro11His)
n.275C>A
n.299C>A
17g.75763975G>ACA401106832GALK1c.277C>T (p.Pro93Ser)
c.31C>T (p.Pro11Ser)
n.274C>T
n.298C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.75763975G>CCA401106844GALK1c.277C>G (p.Pro93Ala)
c.31C>G (p.Pro11Ala)
n.274C>G
n.298C>G
17g.75763975G=CA2275671337GALK1c.277C= (p.Pro93=)
c.31C= (p.Pro11=)
n.274C=
n.298C=
17g.75763975G>TCA401106847GALK1c.277C>A (p.Pro93Thr)
c.31C>A (p.Pro11Thr)
n.274C>A
n.298C>A
17g.75763976C>ACA501842737GALK1c.276G>T (p.Leu92=)
c.30G>T (p.Leu10=)
n.273G>T
n.297G>T
 gnomAD v4
17g.75763976C=CA2275671338GALK1c.276G= (p.Leu92=)
c.30G= (p.Leu10=)
n.273G=
n.297G=
17g.75763976C>GCA501842738GALK1c.276G>C (p.Leu92=)
c.30G>C (p.Leu10=)
n.273G>C
n.297G>C
17g.75763976C>TCA501842740GALK1c.276G>A (p.Leu92=)
c.30G>A (p.Leu10=)
n.273G>A
n.297G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.75763977A>CCA401106851GALK1c.275T>G (p.Leu92Arg)
c.29T>G (p.Leu10Arg)
n.272T>G
n.296T>G
17g.75763977A>GCA401106853GALK1c.275T>C (p.Leu92Pro)
c.29T>C (p.Leu10Pro)
n.272T>C
n.296T>C
17g.75763977A>TCA401106856GALK1c.275T>A (p.Leu92Gln)
c.29T>A (p.Leu10Gln)
n.272T>A
n.296T>A
 gnomAD v4
17g.75763978G>ACA501842741GALK1c.274C>T (p.Leu92=)
c.28C>T (p.Leu10=)
n.271C>T
n.295C>T
17g.75763978G>CCA401106862GALK1c.274C>G (p.Leu92Val)
c.28C>G (p.Leu10Val)
n.271C>G
n.295C>G
17g.75763978G>TCA401106885GALK1c.274C>A (p.Leu92Met)
c.28C>A (p.Leu10Met)
n.271C>A
n.295C>A
17g.75763979T>ACA501842744GALK1c.273A>T (p.Pro91=)
c.27A>T (p.Pro9=)
n.270A>T
n.294A>T
17g.75763979T>CCA501842745GALK1c.273A>G (p.Pro91=)
c.27A>G (p.Pro9=)
n.270A>G
n.294A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.75763979T>GCA501842747GALK1c.273A>C (p.Pro91=)
c.27A>C (p.Pro9=)
n.270A>C
n.294A>C
17g.75763979T=CA2275671339GALK1c.273A= (p.Pro91=)
c.27A= (p.Pro9=)
n.270A=
n.294A=
17g.75763980G>ACA294089230GALK1c.272C>T (p.Pro91Leu)
c.26C>T (p.Pro9Leu)
n.269C>T
n.293C>T
 dbSNP gnomAD v4
17g.75763980G>CCA401106894GALK1c.272C>G (p.Pro91Arg)
c.26C>G (p.Pro9Arg)
n.269C>G
n.293C>G
17g.75763980G=CA2275671340GALK1c.272C= (p.Pro91=)
c.26C= (p.Pro9=)
n.269C=
n.293C=
17g.75763980G>TCA401106896GALK1c.272C>A (p.Pro91Gln)
c.26C>A (p.Pro9Gln)
n.269C>A
n.293C>A
17g.75763981G>ACA401106900GALK1c.271C>T (p.Pro91Ser)
c.25C>T (p.Pro9Ser)
n.268C>T
n.292C>T
17g.75763981G>CCA401106902GALK1c.271C>G (p.Pro91Ala)
c.25C>G (p.Pro9Ala)
n.268C>G
n.292C>G
 dbSNP gnomAD v2 gnomAD v4
17g.75763981G=CA2275671341GALK1c.271C= (p.Pro91=)
c.25C= (p.Pro9=)
n.268C=
n.292C=
17g.75763981G>TCA401106907GALK1c.271C>A (p.Pro91Thr)
c.25C>A (p.Pro9Thr)
n.268C>A
n.292C>A
17g.75763982A=CA2275671342GALK1c.270T= (p.Phe90=)
c.24T= (p.Phe8=)
n.267T=
n.291T=
17g.75763982A>CCA8771012GALK1c.270T>G (p.Phe90Leu)
c.24T>G (p.Phe8Leu)
n.267T>G
n.291T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763982A>GCA501842750GALK1c.270T>C (p.Phe90=)
c.24T>C (p.Phe8=)
n.267T>C
n.291T>C
 gnomAD v4
17g.75763982A>TCA8771013GALK1c.270T>A (p.Phe90Leu)
c.24T>A (p.Phe8Leu)
n.267T>A
n.291T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763983A>CCA401106909GALK1c.269T>G (p.Phe90Cys)
c.23T>G (p.Phe8Cys)
n.266T>G
n.290T>G
17g.75763983A>GCA401106910GALK1c.269T>C (p.Phe90Ser)
c.23T>C (p.Phe8Ser)
n.266T>C
n.290T>C
17g.75763983A>TCA401106913GALK1c.269T>A (p.Phe90Tyr)
c.23T>A (p.Phe8Tyr)
n.266T>A
n.290T>A
17g.75763984A>CCA401106915GALK1c.268T>G (p.Phe90Val)
c.22T>G (p.Phe8Val)
n.265T>G
n.289T>G
 COSMIC
17g.75763984A>GCA401106917GALK1c.268T>C (p.Phe90Leu)
c.22T>C (p.Phe8Leu)
n.265T>C
n.289T>C
17g.75763984A>TCA401106920GALK1c.268T>A (p.Phe90Ile)
c.22T>A (p.Phe8Ile)
n.265T>A
n.289T>A
17g.75763985C>ACA8771014GALK1c.267G>T (p.Gln89His)
c.21G>T (p.Gln7His)
n.264G>T
n.288G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75763985C=CA2275671343GALK1c.267G= (p.Gln89=)
c.21G= (p.Gln7=)
n.264G=
n.288G=
17g.75763985C>GCA401106924GALK1c.267G>C (p.Gln89His)
c.21G>C (p.Gln7His)
n.264G>C
n.288G>C
17g.75763985C>TCA501842753GALK1c.267G>A (p.Gln89=)
c.21G>A (p.Gln7=)
n.264G>A
n.288G>A
17g.75763986T>ACA401106936GALK1c.266A>T (p.Gln89Leu)
c.20A>T (p.Gln7Leu)
n.263A>T
n.287A>T
17g.75763986T>CCA401106939GALK1c.266A>G (p.Gln89Arg)
c.20A>G (p.Gln7Arg)
n.263A>G
n.287A>G
17g.75763986T>GCA401106948GALK1c.266A>C (p.Gln89Pro)
c.20A>C (p.Gln7Pro)
n.263A>C
n.287A>C
17g.75763987G>ACA401106953GALK1c.265C>T (p.Gln89Ter)
c.19C>T (p.Gln7Ter)
n.262C>T
n.286C>T
 ClinVar dbSNP
17g.75763987G>CCA401106965GALK1c.265C>G (p.Gln89Glu)
c.19C>G (p.Gln7Glu)
n.262C>G
n.286C>G
17g.75763987G>TCA401106967GALK1c.265C>A (p.Gln89Lys)
c.19C>A (p.Gln7Lys)
n.262C>A
n.286C>A
17g.75763988C>ACA501842755GALK1c.264G>T (p.Leu88=)
c.18G>T (p.Leu6=)
n.261G>T
n.285G>T
17g.75763988C=CA2275671344GALK1c.264G= (p.Leu88=)
c.18G= (p.Leu6=)
n.261G=
n.285G=
17g.75763988C>GCA501842757GALK1c.264G>C (p.Leu88=)
c.18G>C (p.Leu6=)
n.261G>C
n.285G>C
17g.75763988C>TCA501842756GALK1c.264G>A (p.Leu88=)
c.18G>A (p.Leu6=)
n.261G>A
n.285G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.75763989A>CCA401106976GALK1c.263T>G (p.Leu88Arg)
c.17T>G (p.Leu6Arg)
n.260T>G
n.284T>G
17g.75763989A>GCA401106980GALK1c.263T>C (p.Leu88Pro)
c.17T>C (p.Leu6Pro)
n.260T>C
n.284T>C
17g.75763989A>TCA401106978GALK1c.263T>A (p.Leu88Gln)
c.17T>A (p.Leu6Gln)
n.260T>A
n.284T>A
17g.75763990G>ACA501842761GALK1c.262C>T (p.Leu88=)
c.16C>T (p.Leu6=)
n.259C>T
n.283C>T
17g.75763990G>CCA401106983GALK1c.262C>G (p.Leu88Val)
c.16C>G (p.Leu6Val)
n.259C>G
n.283C>G
17g.75763990G>TCA401106987GALK1c.262C>A (p.Leu88Met)
c.16C>A (p.Leu6Met)
n.259C>A
n.283C>A
17g.75763991C>ACA501842764GALK1c.261G>T (p.Arg87=)
c.15G>T (p.Arg5=)
n.258G>T
n.282G>T
17g.75763991C>GCA501842765GALK1c.261G>C (p.Arg87=)
c.15G>C (p.Arg5=)
n.258G>C
n.282G>C
17g.75763991C>TCA501842766GALK1c.261G>A (p.Arg87=)
c.15G>A (p.Arg5=)
n.258G>A
n.282G>A
 ClinVar dbSNP gnomAD v4
17g.75763992C>ACA401106993GALK1c.260G>T (p.Arg87Leu)
c.14G>T (p.Arg5Leu)
n.257G>T
n.281G>T
 gnomAD v4
17g.75763992C=CA2275671345GALK1c.260G= (p.Arg87=)
c.14G= (p.Arg5=)
n.257G=
n.281G=
17g.75763992C>GCA401106998GALK1c.260G>C (p.Arg87Pro)
c.14G>C (p.Arg5Pro)
n.257G>C
n.281G>C
17g.75763992C>TCA8771015GALK1c.260G>A (p.Arg87Gln)
c.14G>A (p.Arg5Gln)
n.257G>A
n.281G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75763993G>ACA8771016GALK1c.259C>T (p.Arg87Trp)
c.13C>T (p.Arg5Trp)
n.256C>T
n.280C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.75763993G>CCA401107002GALK1c.259C>G (p.Arg87Gly)
c.13C>G (p.Arg5Gly)
n.256C>G
n.280C>G
17g.75763993G=CA2275671346GALK1c.259C= (p.Arg87=)
c.13C= (p.Arg5=)
n.256C=
n.280C=
17g.75763993G>TCA8771017GALK1c.259C>A (p.Arg87=)
c.13C>A (p.Arg5=)
n.256C>A
n.280C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763994C>ACA401107012GALK1c.258G>T (p.Gln86His)
c.12G>T (p.Gln4His)
n.255G>T
n.279G>T
17g.75763994C>GCA401107015GALK1c.258G>C (p.Gln86His)
c.12G>C (p.Gln4His)
n.255G>C
n.279G>C
17g.75763994C>TCA501842770GALK1c.258G>A (p.Gln86=)
c.12G>A (p.Gln4=)
n.255G>A
n.279G>A
17g.75763995T>ACA401107019GALK1c.257A>T (p.Gln86Leu)
c.11A>T (p.Gln4Leu)
n.254A>T
n.278A>T
17g.75763995T>CCA401107021GALK1c.257A>G (p.Gln86Arg)
c.11A>G (p.Gln4Arg)
n.254A>G
n.278A>G
17g.75763995T>GCA401107024GALK1c.257A>C (p.Gln86Pro)
c.11A>C (p.Gln4Pro)
n.254A>C
n.278A>C
17g.75763996G>ACA294089231GALK1c.256C>T (p.Gln86Ter)
c.10C>T (p.Gln4Ter)
n.253C>T
n.277C>T
 dbSNP gnomAD v2 gnomAD v4
17g.75763996G>CCA401107044GALK1c.256C>G (p.Gln86Glu)
c.10C>G (p.Gln4Glu)
n.253C>G
n.277C>G
17g.75763996G=CA2275671347GALK1c.256C= (p.Gln86=)
c.10C= (p.Gln4=)
n.253C=
n.277C=
17g.75763996G>TCA401107048GALK1c.256C>A (p.Gln86Lys)
c.10C>A (p.Gln4Lys)
n.253C>A
n.277C>A
17g.75763999delCA2639882136GALK1c.256del (p.Gln86SerfsTer28)
c.10del (p.Gln4SerfsTer28)
n.253del
n.277del
 gnomAD v4
17g.75763997G>ACA501842772GALK1c.255C>T (p.Pro85=)
c.9C>T (p.Pro3=)
n.252C>T
n.276C>T
 ClinVar dbSNP gnomAD v4
17g.75763997G>CCA501842773GALK1c.255C>G (p.Pro85=)
c.9C>G (p.Pro3=)
n.252C>G
n.276C>G
17g.75763997G>TCA501842777GALK1c.255C>A (p.Pro85=)
c.9C>A (p.Pro3=)
n.252C>A
n.276C>A
17g.75763998G>ACA401107053GALK1c.254C>T (p.Pro85Leu)
c.8C>T (p.Pro3Leu)
n.251C>T
n.275C>T
 gnomAD v4
17g.75763998G>CCA401107054GALK1c.254C>G (p.Pro85Arg)
c.8C>G (p.Pro3Arg)
n.251C>G
n.275C>G
17g.75763998G=CA2275671348GALK1c.254C= (p.Pro85=)
c.8C= (p.Pro3=)
n.251C=
n.275C=
17g.75763998G>TCA8771018GALK1c.254C>A (p.Pro85His)
c.8C>A (p.Pro3His)
n.251C>A
n.275C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75763999G>ACA8771019GALK1c.253C>T (p.Pro85Ser)
c.7C>T (p.Pro3Ser)
n.250C>T
n.274C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75763999G>CCA401107057GALK1c.253C>G (p.Pro85Ala)
c.7C>G (p.Pro3Ala)
n.250C>G
n.274C>G
17g.75763999G=CA2275671349GALK1c.253C= (p.Pro85=)
c.7C= (p.Pro3=)
n.250C=
n.274C=
17g.75763999G>TCA401107060GALK1c.253C>A (p.Pro85Thr)
c.7C>A (p.Pro3Thr)
n.250C>A
n.274C>A
17g.75764000C>ACA401107063GALK1c.252G>T (p.Glu84Asp)
c.6G>T (p.Glu2Asp)
n.249G>T
n.273G>T
17g.75764000C>GCA401107075GALK1c.252G>C (p.Glu84Asp)
c.6G>C (p.Glu2Asp)
n.249G>C
n.273G>C
17g.75764000C>TCA501842780GALK1c.252G>A (p.Glu84=)
c.6G>A (p.Glu2=)
n.249G>A
n.273G>A
17g.75764001T>ACA401107078GALK1c.251A>T (p.Glu84Val)
c.5A>T (p.Glu2Val)
n.248A>T
n.272A>T
17g.75764001T>CCA401107080GALK1c.251A>G (p.Glu84Gly)
c.5A>G (p.Glu2Gly)
n.248A>G
n.272A>G
17g.75764001T>GCA401107084GALK1c.251A>C (p.Glu84Ala)
c.5A>C (p.Glu2Ala)
n.248A>C
n.272A>C
17g.75764002C>ACA401107101GALK1c.250G>T (p.Glu84Ter)
c.4G>T (p.Glu2Ter)
n.247G>T
n.271G>T
 ClinVar dbSNP
17g.75764002C=CA2275671350GALK1c.250G= (p.Glu84=)
c.4G= (p.Glu2=)
n.247G=
n.271G=
17g.75764002C>GCA401107091GALK1c.250G>C (p.Glu84Gln)
c.4G>C (p.Glu2Gln)
n.247G>C
n.271G>C
 dbSNP gnomAD v2 gnomAD v4
17g.75764002C>TCA8771020GALK1c.250G>A (p.Glu84Lys)
c.4G>A (p.Glu2Lys)
n.247G>A
n.271G>A
 dbSNP ExAC
17g.75764003A>CCA401107104GALK1c.249T>G (p.Asp83Glu)
c.3T>G (p.Asp1Glu)
n.246T>G
n.270T>G
17g.75764003A>GCA501842783GALK1c.249T>C (p.Asp83=)
c.3T>C (p.Asp1=)
n.246T>C
n.270T>C
 gnomAD v4 COSMIC
17g.75764003A>TCA401107109GALK1c.249T>A (p.Asp83Glu)
c.3T>A (p.Asp1Glu)
n.246T>A
n.270T>A
17g.75764004T>ACA401107115GALK1c.248A>T (p.Asp83Val)
c.2A>T (p.Asp1Val)
n.245A>T
n.269A>T
17g.75764004T>CCA8771021GALK1c.248A>G (p.Asp83Gly)
c.2A>G (p.Asp1Gly)
n.245A>G
n.269A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75764004T>GCA401107122GALK1c.248A>C (p.Asp83Ala)
c.2A>C (p.Asp1Ala)
n.245A>C
n.269A>C
17g.75764004T=CA2275671351GALK1c.248A= (p.Asp83=)
c.2A= (p.Asp1=)
n.245A=
n.269A=
17g.75764005C>ACA401107127GALK1c.247G>T (p.Asp83Tyr)
c.1G>T (p.Asp1Tyr)
n.244G>T
n.268G>T
17g.75764005C=CA2275671352GALK1c.247G= (p.Asp83=)
c.1G= (p.Asp1=)
n.244G=
n.268G=
17g.75764005C>GCA401107129GALK1c.247G>C (p.Asp83His)
c.1G>C (p.Asp1His)
n.244G>C
n.268G>C
 dbSNP
17g.75764005C>TCA401107145GALK1c.247G>A (p.Asp83Asn)
c.1G>A (p.Asp1Asn)
n.244G>A
n.268G>A
 dbSNP gnomAD v3 gnomAD v4
17g.75764006G>ACA294089236GALK1c.246C>T (p.Ala82=)
n.243C>T
n.267C>T
 ClinVar dbSNP gnomAD v4
17g.75764006G>CCA501842788GALK1c.246C>G (p.Ala82=)
n.243C>G
n.267C>G
 dbSNP
17g.75764006G=CA2275671353GALK1c.246C= (p.Ala82=)
n.243C=
n.267C=
17g.75764006G>TCA501842789GALK1c.246C>A (p.Ala82=)
n.243C>A
n.267C>A
 dbSNP
17g.75764007G>ACA401107155GALK1c.245C>T (p.Ala82Val)
n.242C>T
n.266C>T
 dbSNP gnomAD v2 gnomAD v4
17g.75764007G>CCA401107157GALK1c.245C>G (p.Ala82Gly)
n.242C>G
n.266C>G
 gnomAD v4
17g.75764007G=CA2275671354GALK1c.245C= (p.Ala82=)
n.242C=
n.266C=
17g.75764007G>TCA401107160GALK1c.245C>A (p.Ala82Asp)
n.242C>A
n.266C>A
 gnomAD v4
17g.75764008C>ACA401107164GALK1c.244G>T (p.Ala82Ser)
n.241G>T
n.265G>T
17g.75764008C>GCA401107167GALK1c.244G>C (p.Ala82Pro)
n.241G>C
n.265G>C
17g.75764008C>TCA401107173GALK1c.244G>A (p.Ala82Thr)
n.241G>A
n.265G>A
17g.75764009A=CA2275671355GALK1c.243T= (p.Gly81=)
n.240T=
n.264T=
17g.75764009A>CCA501842794GALK1c.243T>G (p.Gly81=)
n.240T>G
n.264T>G
17g.75764009A>GCA294089238GALK1c.243T>C (p.Gly81=)
n.240T>C
n.264T>C
 dbSNP
17g.75764009A>TCA501842795GALK1c.243T>A (p.Gly81=)
n.240T>A
n.264T>A
17g.75764010C>ACA401107180GALK1c.242G>T (p.Gly81Val)
n.239G>T
n.263G>T
17g.75764010C>GCA401107192GALK1c.242G>C (p.Gly81Ala)
n.239G>C
n.263G>C
17g.75764010C>TCA401107189GALK1c.242G>A (p.Gly81Asp)
n.239G>A
n.263G>A
17g.75764011C>ACA401107197GALK1c.241G>T (p.Gly81Cys)
n.238G>T
n.262G>T
17g.75764011C>GCA401107201GALK1c.241G>C (p.Gly81Arg)
n.238G>C
n.262G>C
17g.75764011C>TCA401107205GALK1c.241G>A (p.Gly81Ser)
n.238G>A
n.262G>A
17g.75764012C>ACA401107212GALK1c.240G>T (p.Glu80Asp)
n.237G>T
n.261G>T
17g.75764012C=CA2275671356GALK1c.240G= (p.Glu80=)
n.237G=
n.261G=
17g.75764012C>GCA401107215GALK1c.240G>C (p.Glu80Asp)
n.237G>C
n.261G>C
17g.75764012C>TCA8771022GALK1c.240G>A (p.Glu80=)
n.237G>A
n.261G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75764013T>ACA401107221GALK1c.239A>T (p.Glu80Val)
n.236A>T
n.260A>T
17g.75764013T>CCA401107222GALK1c.239A>G (p.Glu80Gly)
n.236A>G
n.260A>G
 gnomAD v4
17g.75764013T>GCA401107226GALK1c.239A>C (p.Glu80Ala)
n.236A>C
n.260A>C
17g.75764014C>ACA117656GALK1c.238G>T (p.Glu80Ter)
n.235G>T
n.259G>T
 ClinVar dbSNP
17g.75764014C=CA2275671357GALK1c.238G= (p.Glu80=)
n.235G=
n.259G=
17g.75764014C>GCA401107231GALK1c.238G>C (p.Glu80Gln)
n.235G>C
n.259G>C
17g.75764014C>TCA401107233GALK1c.238G>A (p.Glu80Lys)
n.235G>A
n.259G>A
17g.75764015A>CCA501842801GALK1c.237T>G (p.Ser79=)
n.234T>G
n.258T>G
17g.75764015A>GCA501842802GALK1c.237T>C (p.Ser79=)
n.234T>C
n.258T>C
17g.75764015A>TCA501842803GALK1c.237T>A (p.Ser79=)
n.234T>A
n.258T>A
17g.75764016G>ACA401107234GALK1c.236C>T (p.Ser79Phe)
n.233C>T
n.257C>T
 dbSNP COSMIC
17g.75764016G>CCA401107236GALK1c.236C>G (p.Ser79Cys)
n.233C>G
n.257C>G
 COSMIC
17g.75764016G=CA2275671358GALK1c.236C= (p.Ser79=)
n.233C=
n.257C=
17g.75764016G>TCA401107235GALK1c.236C>A (p.Ser79Tyr)
n.233C>A
n.257C>A
17g.75764017A>CCA401107239GALK1c.235T>G (p.Ser79Ala)
n.232T>G
n.256T>G
17g.75764017A>GCA401107242GALK1c.235T>C (p.Ser79Pro)
n.232T>C
n.256T>C
17g.75764017A>TCA401107246GALK1c.235T>A (p.Ser79Thr)
n.232T>A
n.256T>A
 dbSNP
17g.75764018G>ACA8771023GALK1c.234C>T (p.Thr78=)
n.231C>T
n.255C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.75764018G>CCA501842810GALK1c.234C>G (p.Thr78=)
n.231C>G
n.255C>G
17g.75764018G=CA2275671359GALK1c.234C= (p.Thr78=)
n.231C=
n.255C=
17g.75764018G>TCA501842811GALK1c.234C>A (p.Thr78=)
n.231C>A
n.255C>A
17g.75764019G>ACA401107257GALK1c.233C>T (p.Thr78Ile)
n.230C>T
n.254C>T
 dbSNP
17g.75764019G>CCA401107259GALK1c.233C>G (p.Thr78Ser)
n.230C>G
n.254C>G
17g.75764019G=CA2275671360GALK1c.233C= (p.Thr78=)
n.230C=
n.254C=
17g.75764019G>TCA401107266GALK1c.233C>A (p.Thr78Asn)
n.230C>A
n.254C>A
17g.75764020T>ACA401107269GALK1c.232A>T (p.Thr78Ser)
n.229A>T
n.253A>T
17g.75764020T>CCA401107271GALK1c.232A>G (p.Thr78Ala)
n.229A>G
n.253A>G
 gnomAD v4
17g.75764020T>GCA401107276GALK1c.232A>C (p.Thr78Pro)
n.229A>C
n.253A>C
 dbSNP
17g.75764020T=CA2275671361GALK1c.232A= (p.Thr78=)
n.229A=
n.253A=
17g.75764021G>ACA501842814GALK1c.231C>T (p.Thr77=)
n.228C>T
n.252C>T
 gnomAD v4
17g.75764021G>CCA501842815GALK1c.231C>G (p.Thr77=)
n.228C>G
n.252C>G
17g.75764021G>TCA501842817GALK1c.231C>A (p.Thr77=)
n.228C>A
n.252C>A
 ClinVar dbSNP
17g.75764022G>ACA8771024GALK1c.230C>T (p.Thr77Ile)
n.227C>T
n.251C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75764022G>CCA401107278GALK1c.230C>G (p.Thr77Ser)
n.227C>G
n.251C>G
17g.75764022G=CA2275671362GALK1c.230C= (p.Thr77=)
n.227C=
n.251C=
17g.75764022G>TCA401107281GALK1c.230C>A (p.Thr77Asn)
n.227C>A
n.251C>A
 gnomAD v4

Number of alleles fetched