Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178856319G>ACA2006885CCDC141c.2803C>T (p.Arg935Trp)
c.1135C>T (p.Arg379Trp)
c.2623C>T (p.Arg875Trp)
c.859C>T (p.Arg287Trp)
n.1352+27665G>A
c.1513C>T (p.Arg505Trp)
n.2992C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178856319G>CCA349443661CCDC141c.2803C>G (p.Arg935Gly)
c.1135C>G (p.Arg379Gly)
c.2623C>G (p.Arg875Gly)
c.859C>G (p.Arg287Gly)
n.1352+27665G>C
c.1513C>G (p.Arg505Gly)
n.2992C>G
gnomAD v4
2g.178856319G=CA1310652990CCDC141c.2803C= (p.Arg935=)
c.1135C= (p.Arg379=)
c.2623C= (p.Arg875=)
c.859C= (p.Arg287=)
n.1352+27665G=
c.1513C= (p.Arg505=)
n.2992C=
2g.178856319G>TCA430102970CCDC141c.2803C>A (p.Arg935=)
c.1135C>A (p.Arg379=)
c.2623C>A (p.Arg875=)
c.859C>A (p.Arg287=)
n.1352+27665G>T
c.1513C>A (p.Arg505=)
n.2992C>A
dbSNP COSMIC COSMIC
2g.178856320A>CCA430102974CCDC141c.2802T>G (p.Ser934=)
c.1134T>G (p.Ser378=)
c.2622T>G (p.Ser874=)
c.858T>G (p.Ser286=)
n.1352+27666A>C
c.1512T>G (p.Ser504=)
n.2991T>G
2g.178856320A>GCA430102978CCDC141c.2802T>C (p.Ser934=)
c.1134T>C (p.Ser378=)
c.2622T>C (p.Ser874=)
c.858T>C (p.Ser286=)
n.1352+27666A>G
c.1512T>C (p.Ser504=)
n.2991T>C
2g.178856320A>TCA430102976CCDC141c.2802T>A (p.Ser934=)
c.1134T>A (p.Ser378=)
c.2622T>A (p.Ser874=)
c.858T>A (p.Ser286=)
n.1352+27666A>T
c.1512T>A (p.Ser504=)
n.2991T>A
2g.178856321G>ACA349443667CCDC141c.2801C>T (p.Ser934Phe)
c.1133C>T (p.Ser378Phe)
c.2621C>T (p.Ser874Phe)
c.857C>T (p.Ser286Phe)
n.1352+27667G>A
c.1511C>T (p.Ser504Phe)
n.2990C>T
2g.178856321G>CCA349443673CCDC141c.2801C>G (p.Ser934Cys)
c.1133C>G (p.Ser378Cys)
c.2621C>G (p.Ser874Cys)
c.857C>G (p.Ser286Cys)
n.1352+27667G>C
c.1511C>G (p.Ser504Cys)
n.2990C>G
2g.178856321G>TCA349443678CCDC141c.2801C>A (p.Ser934Tyr)
c.1133C>A (p.Ser378Tyr)
c.2621C>A (p.Ser874Tyr)
c.857C>A (p.Ser286Tyr)
n.1352+27667G>T
c.1511C>A (p.Ser504Tyr)
n.2990C>A
gnomAD v4 COSMIC COSMIC
2g.178856322A=CA1310652991CCDC141c.2800T= (p.Ser934=)
c.1132T= (p.Ser378=)
c.2620T= (p.Ser874=)
c.856T= (p.Ser286=)
n.1352+27668A=
c.1510T= (p.Ser504=)
n.2989T=
2g.178856322A>CCA349443685CCDC141c.2800T>G (p.Ser934Ala)
c.1132T>G (p.Ser378Ala)
c.2620T>G (p.Ser874Ala)
c.856T>G (p.Ser286Ala)
n.1352+27668A>C
c.1510T>G (p.Ser504Ala)
n.2989T>G
2g.178856322A>GCA2006886CCDC141c.2800T>C (p.Ser934Pro)
c.1132T>C (p.Ser378Pro)
c.2620T>C (p.Ser874Pro)
c.856T>C (p.Ser286Pro)
n.1352+27668A>G
c.1510T>C (p.Ser504Pro)
n.2989T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178856322A>TCA349443703CCDC141c.2800T>A (p.Ser934Thr)
c.1132T>A (p.Ser378Thr)
c.2620T>A (p.Ser874Thr)
c.856T>A (p.Ser286Thr)
n.1352+27668A>T
c.1510T>A (p.Ser504Thr)
n.2989T>A
2g.178856323T>ACA349443718CCDC141c.2799A>T (p.Lys933Asn)
c.1131A>T (p.Lys377Asn)
c.2619A>T (p.Lys873Asn)
c.855A>T (p.Lys285Asn)
n.1352+27669T>A
c.1509A>T (p.Lys503Asn)
n.2988A>T
2g.178856323T>CCA2006887CCDC141c.2799A>G (p.Lys933=)
c.1131A>G (p.Lys377=)
c.2619A>G (p.Lys873=)
c.855A>G (p.Lys285=)
n.1352+27669T>C
c.1509A>G (p.Lys503=)
n.2988A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178856323T>GCA349443711CCDC141c.2799A>C (p.Lys933Asn)
c.1131A>C (p.Lys377Asn)
c.2619A>C (p.Lys873Asn)
c.855A>C (p.Lys285Asn)
n.1352+27669T>G
c.1509A>C (p.Lys503Asn)
n.2988A>C
2g.178856323T=CA1310652992CCDC141c.2799A= (p.Lys933=)
c.1131A= (p.Lys377=)
c.2619A= (p.Lys873=)
c.855A= (p.Lys285=)
n.1352+27669T=
c.1509A= (p.Lys503=)
n.2988A=
2g.178856324T>ACA349443722CCDC141c.2798A>T (p.Lys933Ile)
c.1130A>T (p.Lys377Ile)
c.2618A>T (p.Lys873Ile)
c.854A>T (p.Lys285Ile)
n.1352+27670T>A
c.1508A>T (p.Lys503Ile)
n.2987A>T
2g.178856324T>CCA349443732CCDC141c.2798A>G (p.Lys933Arg)
c.1130A>G (p.Lys377Arg)
c.2618A>G (p.Lys873Arg)
c.854A>G (p.Lys285Arg)
n.1352+27670T>C
c.1508A>G (p.Lys503Arg)
n.2987A>G
2g.178856324T>GCA349443729CCDC141c.2798A>C (p.Lys933Thr)
c.1130A>C (p.Lys377Thr)
c.2618A>C (p.Lys873Thr)
c.854A>C (p.Lys285Thr)
n.1352+27670T>G
c.1508A>C (p.Lys503Thr)
n.2987A>C
2g.178856325T>ACA349443739CCDC141c.2797A>T (p.Lys933Ter)
c.1129A>T (p.Lys377Ter)
c.2617A>T (p.Lys873Ter)
c.853A>T (p.Lys285Ter)
n.1352+27671T>A
c.1507A>T (p.Lys503Ter)
n.2986A>T
dbSNP gnomAD v3 gnomAD v4
2g.178856325T>CCA349443741CCDC141c.2797A>G (p.Lys933Glu)
c.1129A>G (p.Lys377Glu)
c.2617A>G (p.Lys873Glu)
c.853A>G (p.Lys285Glu)
n.1352+27671T>C
c.1507A>G (p.Lys503Glu)
n.2986A>G
2g.178856325T>GCA349443740CCDC141c.2797A>C (p.Lys933Gln)
c.1129A>C (p.Lys377Gln)
c.2617A>C (p.Lys873Gln)
c.853A>C (p.Lys285Gln)
n.1352+27671T>G
c.1507A>C (p.Lys503Gln)
n.2986A>C
2g.178856325T=CA1310652993CCDC141c.2797A= (p.Lys933=)
c.1129A= (p.Lys377=)
c.2617A= (p.Lys873=)
c.853A= (p.Lys285=)
n.1352+27671T=
c.1507A= (p.Lys503=)
n.2986A=
2g.178856326T>ACA349443745CCDC141c.2796A>T (p.Glu932Asp)
c.1128A>T (p.Glu376Asp)
c.2616A>T (p.Glu872Asp)
c.852A>T (p.Glu284Asp)
n.1352+27672T>A
c.1506A>T (p.Glu502Asp)
n.2985A>T
2g.178856326T>CCA430103421CCDC141c.2796A>G (p.Glu932=)
c.1128A>G (p.Glu376=)
c.2616A>G (p.Glu872=)
c.852A>G (p.Glu284=)
n.1352+27672T>C
c.1506A>G (p.Glu502=)
n.2985A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178856326T>GCA349443748CCDC141c.2796A>C (p.Glu932Asp)
c.1128A>C (p.Glu376Asp)
c.2616A>C (p.Glu872Asp)
c.852A>C (p.Glu284Asp)
n.1352+27672T>G
c.1506A>C (p.Glu502Asp)
n.2985A>C
2g.178856326T=CA1310652994CCDC141c.2796A= (p.Glu932=)
c.1128A= (p.Glu376=)
c.2616A= (p.Glu872=)
c.852A= (p.Glu284=)
n.1352+27672T=
c.1506A= (p.Glu502=)
n.2985A=
2g.178856327T>ACA349443754CCDC141c.2795A>T (p.Glu932Val)
c.1127A>T (p.Glu376Val)
c.2615A>T (p.Glu872Val)
c.851A>T (p.Glu284Val)
n.1352+27673T>A
c.1505A>T (p.Glu502Val)
n.2984A>T
2g.178856327T>CCA349443762CCDC141c.2795A>G (p.Glu932Gly)
c.1127A>G (p.Glu376Gly)
c.2615A>G (p.Glu872Gly)
c.851A>G (p.Glu284Gly)
n.1352+27673T>C
c.1505A>G (p.Glu502Gly)
n.2984A>G
2g.178856327T>GCA349443772CCDC141c.2795A>C (p.Glu932Ala)
c.1127A>C (p.Glu376Ala)
c.2615A>C (p.Glu872Ala)
c.851A>C (p.Glu284Ala)
n.1352+27673T>G
c.1505A>C (p.Glu502Ala)
n.2984A>C
2g.178856327T=CA1310652995CCDC141c.2795A= (p.Glu932=)
c.1127A= (p.Glu376=)
c.2615A= (p.Glu872=)
c.851A= (p.Glu284=)
n.1352+27673T=
c.1505A= (p.Glu502=)
n.2984A=
2g.178856328C>ACA349443773CCDC141c.2794G>T (p.Glu932Ter)
c.1126G>T (p.Glu376Ter)
c.2614G>T (p.Glu872Ter)
c.850G>T (p.Glu284Ter)
n.1352+27674C>A
c.1504G>T (p.Glu502Ter)
n.2983G>T
2g.178856328C=CA1310652996CCDC141c.2794G= (p.Glu932=)
c.1126G= (p.Glu376=)
c.2614G= (p.Glu872=)
c.850G= (p.Glu284=)
n.1352+27674C=
c.1504G= (p.Glu502=)
n.2983G=
2g.178856328C>GCA349443774CCDC141c.2794G>C (p.Glu932Gln)
c.1126G>C (p.Glu376Gln)
c.2614G>C (p.Glu872Gln)
c.850G>C (p.Glu284Gln)
n.1352+27674C>G
c.1504G>C (p.Glu502Gln)
n.2983G>C
dbSNP
2g.178856328C>TCA60988068CCDC141c.2794G>A (p.Glu932Lys)
c.1126G>A (p.Glu376Lys)
c.2614G>A (p.Glu872Lys)
c.850G>A (p.Glu284Lys)
n.1352+27674C>T
c.1504G>A (p.Glu502Lys)
n.2983G>A
dbSNP gnomAD v4 COSMIC COSMIC
2g.178856328dupCA538093286CCDC141c.2794dup (p.Glu932GlyfsTer10)
c.1126dup (p.Glu376GlyfsTer10)
c.2614dup (p.Glu872GlyfsTer10)
c.850dup (p.Glu284GlyfsTer10)
n.1352+27674dup
c.1504dup (p.Glu502GlyfsTer10)
n.2983dup
dbSNP gnomAD v2 gnomAD v4
2g.178856329A>CCA349443782CCDC141c.2793T>G (p.Asn931Lys)
c.1125T>G (p.Asn375Lys)
c.2613T>G (p.Asn871Lys)
c.849T>G (p.Asn283Lys)
n.1352+27675A>C
c.1503T>G (p.Asn501Lys)
n.2982T>G
2g.178856329A>GCA430103423CCDC141c.2793T>C (p.Asn931=)
c.1125T>C (p.Asn375=)
c.2613T>C (p.Asn871=)
c.849T>C (p.Asn283=)
n.1352+27675A>G
c.1503T>C (p.Asn501=)
n.2982T>C
2g.178856329A>TCA349443783CCDC141c.2793T>A (p.Asn931Lys)
c.1125T>A (p.Asn375Lys)
c.2613T>A (p.Asn871Lys)
c.849T>A (p.Asn283Lys)
n.1352+27675A>T
c.1503T>A (p.Asn501Lys)
n.2982T>A
2g.178856330T>ACA349443798CCDC141c.2792A>T (p.Asn931Ile)
c.1124A>T (p.Asn375Ile)
c.2612A>T (p.Asn871Ile)
c.848A>T (p.Asn283Ile)
n.1352+27676T>A
c.1502A>T (p.Asn501Ile)
n.2981A>T
2g.178856330T>CCA349443790CCDC141c.2792A>G (p.Asn931Ser)
c.1124A>G (p.Asn375Ser)
c.2612A>G (p.Asn871Ser)
c.848A>G (p.Asn283Ser)
n.1352+27676T>C
c.1502A>G (p.Asn501Ser)
n.2981A>G
2g.178856330T>GCA349443785CCDC141c.2792A>C (p.Asn931Thr)
c.1124A>C (p.Asn375Thr)
c.2612A>C (p.Asn871Thr)
c.848A>C (p.Asn283Thr)
n.1352+27676T>G
c.1502A>C (p.Asn501Thr)
n.2981A>C
2g.178856331T>ACA349443810CCDC141c.2791A>T (p.Asn931Tyr)
c.1123A>T (p.Asn375Tyr)
c.2611A>T (p.Asn871Tyr)
c.847A>T (p.Asn283Tyr)
n.1352+27677T>A
c.1501A>T (p.Asn501Tyr)
n.2980A>T
2g.178856331T>CCA2006888CCDC141c.2791A>G (p.Asn931Asp)
c.1123A>G (p.Asn375Asp)
c.2611A>G (p.Asn871Asp)
c.847A>G (p.Asn283Asp)
n.1352+27677T>C
c.1501A>G (p.Asn501Asp)
n.2980A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178856331T>GCA349443817CCDC141c.2791A>C (p.Asn931His)
c.1123A>C (p.Asn375His)
c.2611A>C (p.Asn871His)
c.847A>C (p.Asn283His)
n.1352+27677T>G
c.1501A>C (p.Asn501His)
n.2980A>C
2g.178856331T=CA1310652997CCDC141c.2791A= (p.Asn931=)
c.1123A= (p.Asn375=)
c.2611A= (p.Asn871=)
c.847A= (p.Asn283=)
n.1352+27677T=
c.1501A= (p.Asn501=)
n.2980A=
2g.178856332T>ACA349443821CCDC141c.2790A>T (p.Lys930Asn)
c.1122A>T (p.Lys374Asn)
c.2610A>T (p.Lys870Asn)
c.846A>T (p.Lys282Asn)
n.1352+27678T>A
c.1500A>T (p.Lys500Asn)
n.2979A>T
2g.178856332T>CCA430103427CCDC141c.2790A>G (p.Lys930=)
c.1122A>G (p.Lys374=)
c.2610A>G (p.Lys870=)
c.846A>G (p.Lys282=)
n.1352+27678T>C
c.1500A>G (p.Lys500=)
n.2979A>G

Number of alleles fetched