Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.150541603T>ACA361768234NDST1c.1783T>A (p.Trp595Arg)
c.511T>A (p.Trp171Arg)
c.796T>A (p.Trp266Arg)
n.2261T>A
n.2291T>A
n.2880T>A
5g.150541603T>CCA361768235NDST1c.1783T>C (p.Trp595Arg)
c.511T>C (p.Trp171Arg)
c.796T>C (p.Trp266Arg)
n.2261T>C
n.2291T>C
n.2880T>C
5g.150541603T>GCA361768236NDST1c.1783T>G (p.Trp595Gly)
c.511T>G (p.Trp171Gly)
c.796T>G (p.Trp266Gly)
n.2261T>G
n.2291T>G
n.2880T>G
5g.150541604G>ACA361768237NDST1c.1784G>A (p.Trp595Ter)
c.512G>A (p.Trp171Ter)
c.797G>A (p.Trp266Ter)
n.2262G>A
n.2292G>A
n.2881G>A
5g.150541604G>CCA361768238NDST1c.1784G>C (p.Trp595Ser)
c.512G>C (p.Trp171Ser)
c.797G>C (p.Trp266Ser)
n.2262G>C
n.2292G>C
n.2881G>C
5g.150541604G=CA1590995847NDST1c.1784G= (p.Trp595=)
c.512G= (p.Trp171=)
c.797G= (p.Trp266=)
n.2262G=
n.2292G=
n.2881G=
dbSNP
5g.150541604G>TCA361768239NDST1c.1784G>T (p.Trp595Leu)
c.512G>T (p.Trp171Leu)
c.797G>T (p.Trp266Leu)
n.2262G>T
n.2292G>T
n.2881G>T
dbSNP gnomAD v2 gnomAD v4
5g.150541605G>ACA361768240NDST1c.1785G>A (p.Trp595Ter)
c.513G>A (p.Trp171Ter)
c.798G>A (p.Trp266Ter)
n.2263G>A
n.2293G>A
n.2882G>A
5g.150541605G>CCA361768241NDST1c.1785G>C (p.Trp595Cys)
c.513G>C (p.Trp171Cys)
c.798G>C (p.Trp266Cys)
n.2263G>C
n.2293G>C
n.2882G>C
5g.150541605G>TCA361768242NDST1c.1785G>T (p.Trp595Cys)
c.513G>T (p.Trp171Cys)
c.798G>T (p.Trp266Cys)
n.2263G>T
n.2293G>T
n.2882G>T
5g.150541606T>ACA361768243NDST1c.1786T>A (p.Ser596Thr)
c.514T>A (p.Ser172Thr)
c.799T>A (p.Ser267Thr)
n.2264T>A
n.2294T>A
n.2883T>A
5g.150541606T>CCA129132581NDST1c.1786T>C (p.Ser596Pro)
c.514T>C (p.Ser172Pro)
c.799T>C (p.Ser267Pro)
n.2264T>C
n.2294T>C
n.2883T>C
dbSNP
5g.150541606T>GCA361768244NDST1c.1786T>G (p.Ser596Ala)
c.514T>G (p.Ser172Ala)
c.799T>G (p.Ser267Ala)
n.2264T>G
n.2294T>G
n.2883T>G
dbSNP gnomAD v4
5g.150541606T=CA1590995848NDST1c.1786T= (p.Ser596=)
c.514T= (p.Ser172=)
c.799T= (p.Ser267=)
n.2264T=
n.2294T=
n.2883T=
dbSNP
5g.150541607C>ACA361768246NDST1c.1787C>A (p.Ser596Tyr)
c.515C>A (p.Ser172Tyr)
c.800C>A (p.Ser267Tyr)
n.2265C>A
n.2295C>A
n.2884C>A
5g.150541607C=CA3128490191NDST1c.1787C= (p.Ser596=)
c.515C= (p.Ser172=)
c.800C= (p.Ser267=)
n.2265C=
n.2295C=
n.2884C=
dbSNP
5g.150541607C>GCA361768247NDST1c.1787C>G (p.Ser596Cys)
c.515C>G (p.Ser172Cys)
c.800C>G (p.Ser267Cys)
n.2265C>G
n.2295C>G
n.2884C>G
dbSNP
5g.150541607C>TCA361768245NDST1c.1787C>T (p.Ser596Phe)
c.515C>T (p.Ser172Phe)
c.800C>T (p.Ser267Phe)
n.2265C>T
n.2295C>T
n.2884C>T
5g.150541608C>ACA447164131NDST1c.1788C>A (p.Ser596=)
c.516C>A (p.Ser172=)
c.801C>A (p.Ser267=)
n.2266C>A
n.2296C>A
n.2885C>A
5g.150541608C>GCA447164134NDST1c.1788C>G (p.Ser596=)
c.516C>G (p.Ser172=)
c.801C>G (p.Ser267=)
n.2266C>G
n.2296C>G
n.2885C>G
5g.150541608C>TCA447164133NDST1c.1788C>T (p.Ser596=)
c.516C>T (p.Ser172=)
c.801C>T (p.Ser267=)
n.2266C>T
n.2296C>T
n.2885C>T
5g.150541609A=CA1590995849NDST1c.1789A= (p.Lys597=)
c.517A= (p.Lys173=)
c.802A= (p.Lys268=)
n.2267A=
n.2297A=
n.2886A=
dbSNP
5g.150541609A>CCA361768248NDST1c.1789A>C (p.Lys597Gln)
c.517A>C (p.Lys173Gln)
c.802A>C (p.Lys268Gln)
n.2267A>C
n.2297A>C
n.2886A>C
5g.150541609A>GCA361768249NDST1c.1789A>G (p.Lys597Glu)
c.517A>G (p.Lys173Glu)
c.802A>G (p.Lys268Glu)
n.2267A>G
n.2297A>G
n.2886A>G
dbSNP
5g.150541609A>TCA361768250NDST1c.1789A>T (p.Lys597Ter)
c.517A>T (p.Lys173Ter)
c.802A>T (p.Lys268Ter)
n.2267A>T
n.2297A>T
n.2886A>T
5g.150541610A>CCA361768251NDST1c.1790A>C (p.Lys597Thr)
c.518A>C (p.Lys173Thr)
c.803A>C (p.Lys268Thr)
n.2268A>C
n.2298A>C
n.2887A>C
5g.150541610A>GCA361768252NDST1c.1790A>G (p.Lys597Arg)
c.518A>G (p.Lys173Arg)
c.803A>G (p.Lys268Arg)
n.2268A>G
n.2298A>G
n.2887A>G
5g.150541610A>TCA361768253NDST1c.1790A>T (p.Lys597Met)
c.518A>T (p.Lys173Met)
c.803A>T (p.Lys268Met)
n.2268A>T
n.2298A>T
n.2887A>T
5g.150541612_150541614delCA2676006848NDST1c.1792_1794del (p.Glu598del)
c.520_522del (p.Glu174del)
c.805_807del (p.Glu269del)
n.2270_2272del
n.2300_2302del
n.2889_2891del
dbSNP gnomAD v4
5g.150541611G>ACA3512791NDST1c.1791G>A (p.Lys597=)
c.519G>A (p.Lys173=)
c.804G>A (p.Lys268=)
n.2269G>A
n.2299G>A
n.2888G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.150541611G>CCA361768254NDST1c.1791G>C (p.Lys597Asn)
c.519G>C (p.Lys173Asn)
c.804G>C (p.Lys268Asn)
n.2269G>C
n.2299G>C
n.2888G>C
5g.150541611G=CA1590995850NDST1c.1791G= (p.Lys597=)
c.519G= (p.Lys173=)
c.804G= (p.Lys268=)
n.2269G=
n.2299G=
n.2888G=
dbSNP
5g.150541611G>TCA361768255NDST1c.1791G>T (p.Lys597Asn)
c.519G>T (p.Lys173Asn)
c.804G>T (p.Lys268Asn)
n.2269G>T
n.2299G>T
n.2888G>T
5g.150541612G>ACA361768256NDST1c.1792G>A (p.Glu598Lys)
c.520G>A (p.Glu174Lys)
c.805G>A (p.Glu269Lys)
n.2270G>A
n.2300G>A
n.2889G>A
COSMIC
5g.150541612G>CCA361768257NDST1c.1792G>C (p.Glu598Gln)
c.520G>C (p.Glu174Gln)
c.805G>C (p.Glu269Gln)
n.2270G>C
n.2300G>C
n.2889G>C
5g.150541612G>TCA361768258NDST1c.1792G>T (p.Glu598Ter)
c.520G>T (p.Glu174Ter)
c.805G>T (p.Glu269Ter)
n.2270G>T
n.2300G>T
n.2889G>T
5g.150541613A>CCA361768259NDST1c.1793A>C (p.Glu598Ala)
c.521A>C (p.Glu174Ala)
c.806A>C (p.Glu269Ala)
n.2271A>C
n.2301A>C
n.2890A>C
5g.150541613A>GCA361768260NDST1c.1793A>G (p.Glu598Gly)
c.521A>G (p.Glu174Gly)
c.806A>G (p.Glu269Gly)
n.2271A>G
n.2301A>G
n.2890A>G
5g.150541613A>TCA361768261NDST1c.1793A>T (p.Glu598Val)
c.521A>T (p.Glu174Val)
c.806A>T (p.Glu269Val)
n.2271A>T
n.2301A>T
n.2890A>T
5g.150541616_150541618delCA2676006849NDST1c.1796_1798del (p.Lys599del)
c.524_526del (p.Lys175del)
c.809_811del (p.Lys270del)
n.2274_2276del
n.2304_2306del
n.2893_2895del
dbSNP gnomAD v4
5g.150541614G>ACA447164139NDST1c.1794G>A (p.Glu598=)
c.522G>A (p.Glu174=)
c.807G>A (p.Glu269=)
n.2272G>A
n.2302G>A
n.2891G>A
5g.150541614G>CCA361768263NDST1c.1794G>C (p.Glu598Asp)
c.522G>C (p.Glu174Asp)
c.807G>C (p.Glu269Asp)
n.2272G>C
n.2302G>C
n.2891G>C
5g.150541614G>TCA361768262NDST1c.1794G>T (p.Glu598Asp)
c.522G>T (p.Glu174Asp)
c.807G>T (p.Glu269Asp)
n.2272G>T
n.2302G>T
n.2891G>T
5g.150541615A=CA3131244997NDST1c.1795A= (p.Lys599=)
c.523A= (p.Lys175=)
c.808A= (p.Lys270=)
n.2273A=
n.2303A=
n.2892A=
dbSNP
5g.150541615A>CCA361768264NDST1c.1795A>C (p.Lys599Gln)
c.523A>C (p.Lys175Gln)
c.808A>C (p.Lys270Gln)
n.2273A>C
n.2303A>C
n.2892A>C
5g.150541615A>GCA361768266NDST1c.1795A>G (p.Lys599Glu)
c.523A>G (p.Lys175Glu)
c.808A>G (p.Lys270Glu)
n.2273A>G
n.2303A>G
n.2892A>G
dbSNP gnomAD v4
5g.150541615A>TCA361768265NDST1c.1795A>T (p.Lys599Ter)
c.523A>T (p.Lys175Ter)
c.808A>T (p.Lys270Ter)
n.2273A>T
n.2303A>T
n.2892A>T
5g.150541616A>CCA361768267NDST1c.1796A>C (p.Lys599Thr)
c.524A>C (p.Lys175Thr)
c.809A>C (p.Lys270Thr)
n.2274A>C
n.2304A>C
n.2893A>C
5g.150541616A>GCA361768269NDST1c.1796A>G (p.Lys599Arg)
c.524A>G (p.Lys175Arg)
c.809A>G (p.Lys270Arg)
n.2274A>G
n.2304A>G
n.2893A>G
5g.150541616A>TCA361768268NDST1c.1796A>T (p.Lys599Met)
c.524A>T (p.Lys175Met)
c.809A>T (p.Lys270Met)
n.2274A>T
n.2304A>T
n.2893A>T

Number of alleles fetched