Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31326509delCA2576479367DSG1c.49-72del (n.49-72del)
18g.31326508A=CA2293766629DSG1c.49-73A= (n.49-73A=)
18g.31326508A>CCA297689026DSG1c.49-73A>C (n.49-73A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31326509A>GCA2641395007DSG1c.49-72A>G (n.49-72A>G)
gnomAD v4
18g.31326510G>ACA2641395008DSG1c.49-71G>A (n.49-71G>A)
gnomAD v4
18g.31326511T>CCA2641395009DSG1c.49-70T>C (n.49-70T>C)
gnomAD v4
18g.31326512A>GCA2641395010DSG1c.49-69A>G (n.49-69A>G)
gnomAD v4
18g.31326513A=CA2293766630DSG1c.49-68A= (n.49-68A=)
18g.31326513A>GCA629145850DSG1c.49-68A>G (n.49-68A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31326514C>ACA2641395011DSG1c.49-67C>A (n.49-67C>A)
gnomAD v4
18g.31326514C=CA2293766631DSG1c.49-67C= (n.49-67C=)
18g.31326514C>TCA988897874DSG1c.49-67C>T (n.49-67C>T)
dbSNP gnomAD v3 gnomAD v4
18g.31326515T>CCA297689033DSG1c.49-66T>C (n.49-66T>C)
dbSNP gnomAD v3 gnomAD v4
18g.31326515T=CA2293766632DSG1c.49-66T= (n.49-66T=)
18g.31326516G>TCA2641395013DSG1c.49-65G>T (n.49-65G>T)
gnomAD v4
18g.31326517delCA2641395012DSG1c.49-64del (n.49-64del)
gnomAD v4
18g.31326517G>ACA778435723DSG1c.49-64G>A (n.49-64G>A)
dbSNP gnomAD v3 gnomAD v4
18g.31326517G=CA2293766633DSG1c.49-64G= (n.49-64G=)
18g.31326517G>TCA2641395014DSG1c.49-64G>T (n.49-64G>T)
gnomAD v4
18g.31326518A=CA2293766634DSG1c.49-63A= (n.49-63A=)
18g.31326518A>GCA297689041DSG1c.49-63A>G (n.49-63A>G)
dbSNP gnomAD v3 gnomAD v4
18g.31326519T>ACA778435725DSG1c.49-62T>A (n.49-62T>A)
dbSNP gnomAD v3 gnomAD v4
18g.31326519T>CCA2641395015DSG1c.49-62T>C (n.49-62T>C)
gnomAD v4
18g.31326519T>GCA2576479369DSG1c.49-62T>G (n.49-62T>G)
18g.31326519T=CA2293766635DSG1c.49-62T= (n.49-62T=)
18g.31326520A=CA2293766636DSG1c.49-61A= (n.49-61A=)
18g.31326520A>TCA778435726DSG1c.49-61A>T (n.49-61A>T)
dbSNP gnomAD v3 gnomAD v4
18g.31326521A>GCA2641395016DSG1c.49-60A>G (n.49-60A>G)
gnomAD v4
18g.31326522T>CCA297689046DSG1c.49-59T>C (n.49-59T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31326522T>GCA2641395017DSG1c.49-59T>G (n.49-59T>G)
gnomAD v4
18g.31326522T=CA2293766637DSG1c.49-59T= (n.49-59T=)
18g.31326523A>GCA2641395018DSG1c.49-58A>G (n.49-58A>G)
gnomAD v4
18g.31326532A>TCA2576479370DSG1c.49-49A>T (n.49-49A>T)
gnomAD v4
18g.31326533A=CA2293766638DSG1c.49-48A= (n.49-48A=)
18g.31326533A>CCA8925735DSG1c.49-48A>C (n.49-48A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31326533A>GCA2641395019DSG1c.49-48A>G (n.49-48A>G)
gnomAD v4
18g.31326534A=CA2293766639DSG1c.49-47A= (n.49-47A=)
18g.31326534A>CCA8925736DSG1c.49-47A>C (n.49-47A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31326534A>GCA2641395020DSG1c.49-47A>G (n.49-47A>G)
gnomAD v4
18g.31326534A>TCA2641395021DSG1c.49-47A>T (n.49-47A>T)
gnomAD v4
18g.31326535G>ACA8925737DSG1c.49-46G>A (n.49-46G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31326535G>CCA2576479371DSG1c.49-46G>C (n.49-46G>C)
18g.31326535G=CA2293766640DSG1c.49-46G= (n.49-46G=)
18g.31326535G>TCA297689057DSG1c.49-46G>T (n.49-46G>T)
dbSNP
18g.31326536C>ACA2576479372DSG1c.49-45C>A (n.49-45C>A)
gnomAD v4
18g.31326536C=CA2293766641DSG1c.49-45C= (n.49-45C=)
18g.31326536C>GCA2293766642DSG1c.49-45C>G (n.49-45C>G)
dbSNP gnomAD v4
18g.31326536C>TCA2641395022DSG1c.49-45C>T (n.49-45C>T)
gnomAD v4
18g.31326537A=CA2293766643DSG1c.49-44A= (n.49-44A=)
18g.31326537A>GCA8925738DSG1c.49-44A>G (n.49-44A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31326538T>GCA2641395023DSG1c.49-43T>G (n.49-43T>G)
gnomAD v4
18g.31326540T>ACA2641395024DSG1c.49-41T>A (n.49-41T>A)
gnomAD v4
18g.31326540T>CCA629145855DSG1c.49-41T>C (n.49-41T>C)
dbSNP gnomAD v2 gnomAD v4
18g.31326540T=CA2293766644DSG1c.49-41T= (n.49-41T=)
18g.31326541A>TCA2542925952DSG1c.49-40A>T (n.49-40A>T)
18g.31326542A=CA2293766645DSG1c.49-39A= (n.49-39A=)
18g.31326542A>GCA2293766646DSG1c.49-39A>G (n.49-39A>G)
dbSNP
18g.31326542A>TCA2570014242DSG1c.49-39A>T (n.49-39A>T)
18g.31326544T>CCA2641395025DSG1c.49-37T>C (n.49-37T>C)
gnomAD v4
18g.31326544_31326545delinsTACA2293766647DSG1c.49-37_49-36delinsTA (n.49-37_49-36delinsTA)
18g.31326544_31326545insGCA2554560371DSG1c.49-37_49-36insG (n.49-37_49-36insG)
18g.31326545A>TCA2641395027DSG1c.49-36A>T (n.49-36A>T)
gnomAD v4
18g.31326550dupCA2641395026DSG1c.49-31dup (n.49-31dup)
gnomAD v4
18g.31326550delCA988897892DSG1c.49-31del (n.49-31del)
dbSNP gnomAD v3 gnomAD v4
18g.31326546_31326547insTTTATTCCA2546870190DSG1c.49-35_49-34insTTTATTC (n.49-35_49-34insTTTATTC)
18g.31326547A=CA2293766648DSG1c.49-34A= (n.49-34A=)
18g.31326547A>GCA8925739DSG1c.49-34A>G (n.49-34A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31326547A>TCA2641395028DSG1c.49-34A>T (n.49-34A>T)
gnomAD v4
18g.31326548A=CA2293766649DSG1c.49-33A= (n.49-33A=)
18g.31326548A>CCA629145856DSG1c.49-33A>C (n.49-33A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31326548A>GCA2515814989DSG1c.49-33A>G (n.49-33A>G)
18g.31326549A>GCA2576479373DSG1c.49-32A>G (n.49-32A>G)
18g.31326550A=CA2293766650DSG1c.49-31A= (n.49-31A=)
18g.31326550A>GCA629453234DSG1c.49-31A>G (n.49-31A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31326550A>TCA2576479374DSG1c.49-31A>T (n.49-31A>T)
gnomAD v4
18g.31326551T>ACA2576479375DSG1c.49-30T>A (n.49-30T>A)
18g.31326551T>CCA2641395030DSG1c.49-30T>C (n.49-30T>C)
gnomAD v4
18g.31326553_31326556delCA2641395029DSG1c.49-28_49-25del (n.49-28_49-25del)
gnomAD v4
18g.31326552A>GCA2641395031DSG1c.49-29A>G (n.49-29A>G)
gnomAD v4
18g.31326552A>TCA2591673930DSG1c.49-29A>T (n.49-29A>T)
dbSNP gnomAD v3 gnomAD v4
18g.31326553A=CA2293766651DSG1c.49-28A= (n.49-28A=)
18g.31326553A>GCA629453235DSG1c.49-28A>G (n.49-28A>G)
dbSNP gnomAD v2 gnomAD v4
18g.31326554delCA2641395032DSG1c.49-27del (n.49-27del)
gnomAD v4
18g.31326554C>ACA2641395033DSG1c.49-27C>A (n.49-27C>A)
gnomAD v4
18g.31326554C>TCA2641395034DSG1c.49-27C>T (n.49-27C>T)
gnomAD v4
18g.31326555T>CCA2641395035DSG1c.49-26T>C (n.49-26T>C)
gnomAD v4
18g.31326557G>ACA2293766652DSG1c.49-24G>A (n.49-24G>A)
dbSNP
18g.31326557G=CA2293766653DSG1c.49-24G= (n.49-24G=)
18g.31326557G>TCA297689098DSG1c.49-24G>T (n.49-24G>T)
dbSNP gnomAD v4
18g.31326559G>ACA2576479376DSG1c.49-22G>A (n.49-22G>A)
gnomAD v4
18g.31326560T>CCA629453236DSG1c.49-21T>C (n.49-21T>C)
dbSNP gnomAD v2 gnomAD v4
18g.31326560T=CA2293766654DSG1c.49-21T= (n.49-21T=)
18g.31326561G>ACA629453237DSG1c.49-20G>A (n.49-20G>A)
dbSNP gnomAD v2 gnomAD v4
18g.31326561G=CA2293766655DSG1c.49-20G= (n.49-20G=)
18g.31326561G>TCA2641395036DSG1c.49-20G>T (n.49-20G>T)
gnomAD v4
18g.31326561_31326569delinsGATTATCTTCA2293766656DSG1c.49-20_49-12delinsGATTATCTT (n.49-20_49-12delinsGATTATCTT)
18g.31326562A=CA2293766658DSG1c.49-19A= (n.49-19A=)
18g.31326562A>CCA988897897DSG1c.49-19A>C (n.49-19A>C)
dbSNP
18g.31326565_31326572delCA2293766657DSG1c.49-16_49-9del (n.49-16_49-9del)
dbSNP gnomAD v4
18g.31326563T>CCA2641395037DSG1c.49-18T>C (n.49-18T>C)
gnomAD v4
18g.31326564T>CCA2641395038DSG1c.49-17T>C (n.49-17T>C)
gnomAD v4
18g.31326566T>CCA2641395039DSG1c.49-15T>C (n.49-15T>C)
gnomAD v4
18g.31326566T>GCA2576479377DSG1c.49-15T>G (n.49-15T>G)
18g.31326567C>ACA2641395040DSG1c.49-14C>A (n.49-14C>A)
gnomAD v4
18g.31326568T>GCA629453238DSG1c.49-13T>G (n.49-13T>G)
dbSNP gnomAD v2 gnomAD v4
18g.31326568T=CA2293766659DSG1c.49-13T= (n.49-13T=)
18g.31326569T>GCA2641395041DSG1c.49-12T>G (n.49-12T>G)
gnomAD v4
18g.31326570_31326571delinsATCA2293766660DSG1c.49-11_49-10delinsAT (n.49-11_49-10delinsAT)
18g.31326571T>ACA2293766662DSG1c.49-10T>A (n.49-10T>A)
dbSNP
18g.31326571T=CA2293766661DSG1c.49-10T= (n.49-10T=)
18g.31326576delCA8925740DSG1c.49-5del (n.49-5del)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.31326572T>ACA297689105DSG1c.49-9T>A (n.49-9T>A)
dbSNP gnomAD v4
18g.31326572T=CA2293766663DSG1c.49-9T= (n.49-9T=)
18g.31326573T>CCA2641395042DSG1c.49-8T>C (n.49-8T>C)
gnomAD v4
18g.31326573T>GCA629453239DSG1c.49-8T>G (n.49-8T>G)
dbSNP gnomAD v2 gnomAD v4
18g.31326573T=CA2293766664DSG1c.49-8T= (n.49-8T=)
18g.31326576T>CCA2641395043DSG1c.49-5T>C (n.49-5T>C)
gnomAD v4
18g.31326577delCA2641395044DSG1c.49-4del (n.49-4del)
gnomAD v4
18g.31326577A>TCA2641395045DSG1c.49-4A>T (n.49-4A>T)
gnomAD v4
18g.31326578C>ACA2641395046DSG1c.49-3C>A (n.49-3C>A)
gnomAD v4
18g.31326578C=CA2293766665DSG1c.49-3C= (n.49-3C=)
18g.31326578C>GCA2641395047DSG1c.49-3C>G (n.49-3C>G)
gnomAD v4
18g.31326578C>TCA8925741DSG1c.49-3C>T (n.49-3C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.31326579A>CCA402127393DSG1c.49-2A>C (n.49-2A>C)
18g.31326579A>GCA402127395DSG1c.49-2A>G (n.49-2A>G)
gnomAD v4
18g.31326579A>TCA402127394DSG1c.49-2A>T (n.49-2A>T)
gnomAD v4
18g.31326580G>ACA145283DSG1c.49-1G>A (n.49-1G>A)
ClinVar dbSNP
18g.31326580G>CCA402127396DSG1c.49-1G>C (n.49-1G>C)
18g.31326580G=CA2293766666DSG1c.49-1G= (n.49-1G=)
18g.31326580G>TCA402127397DSG1c.49-1G>T (n.49-1G>T)
18g.31326581G>ACA8925742DSG1c.49G>A (p.Val17Met)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.31326581G>CCA402127398DSG1c.49G>C (p.Val17Leu)
18g.31326581G=CA2293766667DSG1c.49G= (p.Val17=)
18g.31326581G>TCA402127399DSG1c.49G>T (p.Val17Leu)
gnomAD v4
18g.31326582T>ACA402127400DSG1c.50T>A (p.Val17Glu)
18g.31326582T>CCA402127401DSG1c.50T>C (p.Val17Ala)
ClinVar gnomAD v4
18g.31326582T>GCA402127402DSG1c.50T>G (p.Val17Gly)
18g.31326583G>ACA503593296DSG1c.51G>A (p.Val17=)
dbSNP
18g.31326583G>CCA503593297DSG1c.51G>C (p.Val17=)
18g.31326583G=CA2293766668DSG1c.51G= (p.Val17=)
18g.31326583G>TCA503593298DSG1c.51G>T (p.Val17=)
18g.31326584G>ACA402127403DSG1c.52G>A (p.Val18Met)
18g.31326584G>CCA402127404DSG1c.52G>C (p.Val18Leu)
18g.31326584G>TCA402127405DSG1c.52G>T (p.Val18Leu)
gnomAD v4
18g.31326585T>ACA402127406DSG1c.53T>A (p.Val18Glu)
gnomAD v4
18g.31326585T>CCA402127408DSG1c.53T>C (p.Val18Ala)
18g.31326585T>GCA402127407DSG1c.53T>G (p.Val18Gly)
18g.31326586G>ACA503593299DSG1c.54G>A (p.Val18=)
18g.31326586G>CCA503593301DSG1c.54G>C (p.Val18=)
18g.31326586G>TCA503593300DSG1c.54G>T (p.Val18=)
18g.31326587delCA2641395048DSG1c.55del (p.Val19Ter)
gnomAD v4
18g.31326587G>ACA402127409DSG1c.55G>A (p.Val19Ile)
gnomAD v4
18g.31326587G>CCA402127410DSG1c.55G>C (p.Val19Leu)
18g.31326587G>TCA402127411DSG1c.55G>T (p.Val19Leu)
18g.31326588T>ACA402127412DSG1c.56T>A (p.Val19Glu)
18g.31326588T>CCA402127413DSG1c.56T>C (p.Val19Ala)
18g.31326588T>GCA402127414DSG1c.56T>G (p.Val19Gly)
18g.31326589A=CA2293766669DSG1c.57A= (p.Val19=)
18g.31326589A>CCA503593302DSG1c.57A>C (p.Val19=)
18g.31326589A>GCA8925743DSG1c.57A>G (p.Val19=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.31326589A>TCA503593303DSG1c.57A>T (p.Val19=)
18g.31326590G>ACA402127415DSG1c.58G>A (p.Glu20Lys)
18g.31326590G>CCA402127416DSG1c.58G>C (p.Glu20Gln)
18g.31326590G>TCA402127417DSG1c.58G>T (p.Glu20Ter)
18g.31326591A>CCA402127419DSG1c.59A>C (p.Glu20Ala)
18g.31326591A>GCA402127420DSG1c.59A>G (p.Glu20Gly)
18g.31326591A>TCA402127418DSG1c.59A>T (p.Glu20Val)
18g.31326592A=CA2293766670DSG1c.60A= (p.Glu20=)
18g.31326592A>CCA402127421DSG1c.60A>C (p.Glu20Asp)
dbSNP
18g.31326592A>GCA503593304DSG1c.60A>G (p.Glu20=)
18g.31326592A>TCA402127422DSG1c.60A>T (p.Glu20Asp)
18g.31326593G>ACA402127423DSG1c.61G>A (p.Val21Ile)
18g.31326593G>CCA402127424DSG1c.61G>C (p.Val21Leu)
18g.31326593G>TCA402127425DSG1c.61G>T (p.Val21Phe)
18g.31326594T>ACA402127426DSG1c.62T>A (p.Val21Asp)
COSMIC
18g.31326594T>CCA402127427DSG1c.62T>C (p.Val21Ala)
18g.31326594T>GCA402127428DSG1c.62T>G (p.Val21Gly)
18g.31326595T>ACA503593307DSG1c.63T>A (p.Val21=)
18g.31326595T>CCA503593306DSG1c.63T>C (p.Val21=)
18g.31326595T>GCA503593305DSG1c.63T>G (p.Val21=)
18g.31326596A>CCA402127429DSG1c.64A>C (p.Asn22His)
18g.31326596A>GCA402127430DSG1c.64A>G (p.Asn22Asp)
18g.31326596A>TCA402127431DSG1c.64A>T (p.Asn22Tyr)
18g.31326597A>CCA402127432DSG1c.65A>C (p.Asn22Thr)
18g.31326597A>GCA402127433DSG1c.65A>G (p.Asn22Ser)
18g.31326597A>TCA402127434DSG1c.65A>T (p.Asn22Ile)
18g.31326598C>ACA402127435DSG1c.66C>A (p.Asn22Lys)
gnomAD v4
18g.31326598C>GCA402127436DSG1c.66C>G (p.Asn22Lys)
18g.31326598C>TCA503593308DSG1c.66C>T (p.Asn22=)
18g.31326599A=CA2293766671DSG1c.67A= (p.Ser23=)
18g.31326599A>CCA402127437DSG1c.67A>C (p.Ser23Arg)
18g.31326599A>GCA402127438DSG1c.67A>G (p.Ser23Gly)
dbSNP gnomAD v2 gnomAD v4
18g.31326599A>TCA402127439DSG1c.67A>T (p.Ser23Cys)
18g.31326600G>ACA402127440DSG1c.68G>A (p.Ser23Asn)
gnomAD v4
18g.31326600G>CCA402127441DSG1c.68G>C (p.Ser23Thr)
18g.31326600G>TCA402127442DSG1c.68G>T (p.Ser23Ile)
18g.31326601T>ACA402127443DSG1c.69T>A (p.Ser23Arg)
18g.31326601T>CCA503593309DSG1c.69T>C (p.Ser23=)
gnomAD v4
18g.31326601T>GCA402127444DSG1c.69T>G (p.Ser23Arg)
18g.31326602G>ACA402127445DSG1c.70G>A (p.Glu24Lys)
18g.31326602G>CCA402127446DSG1c.70G>C (p.Glu24Gln)
dbSNP
18g.31326602G=CA2293766672DSG1c.70G= (p.Glu24=)
18g.31326602G>TCA402127447DSG1c.70G>T (p.Glu24Ter)
dbSNP gnomAD v3 gnomAD v4
18g.31326603A>CCA402127448DSG1c.71A>C (p.Glu24Ala)
18g.31326603A>GCA402127449DSG1c.71A>G (p.Glu24Gly)
18g.31326603A>TCA402127450DSG1c.71A>T (p.Glu24Val)
18g.31326604A>CCA402127451DSG1c.72A>C (p.Glu24Asp)
18g.31326604A>GCA503593310DSG1c.72A>G (p.Glu24=)
18g.31326604A>TCA402127452DSG1c.72A>T (p.Glu24Asp)
18g.31326605T>ACA402127453DSG1c.73T>A (p.Phe25Ile)
18g.31326605T>CCA402127454DSG1c.73T>C (p.Phe25Leu)
18g.31326605T>GCA402127455DSG1c.73T>G (p.Phe25Val)
gnomAD v4
18g.31326606T>ACA402127456DSG1c.74T>A (p.Phe25Tyr)
18g.31326606T>CCA402127457DSG1c.74T>C (p.Phe25Ser)
gnomAD v4
18g.31326606T>GCA402127458DSG1c.74T>G (p.Phe25Cys)
18g.31326607C>ACA402127459DSG1c.75C>A (p.Phe25Leu)
gnomAD v4
18g.31326607C=CA2293766673DSG1c.75C= (p.Phe25=)
18g.31326607C>GCA402127460DSG1c.75C>G (p.Phe25Leu)
dbSNP
18g.31326607C>TCA503593311DSG1c.75C>T (p.Phe25=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31326608C>ACA503593312DSG1c.76C>A (p.Arg26=)
gnomAD v4
18g.31326608C=CA2293766674DSG1c.76C= (p.Arg26=)
18g.31326608C>GCA402127461DSG1c.76C>G (p.Arg26Gly)
18g.31326608C>TCA145276DSG1c.76C>T (p.Arg26Ter)
ClinVar dbSNP gnomAD v4

Number of alleles fetched