Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.76346704G>A | CA481011183 | BBS10 | c.1281C>T (p.Asp427=) | |
12 | g.76346704G>C | CA385811783 | BBS10 | c.1281C>G (p.Asp427Glu) | gnomAD v4 |
12 | g.76346704G>T | CA385811785 | BBS10 | c.1281C>A (p.Asp427Glu) | gnomAD v4 |
12 | g.76346705T>A | CA385811794 | BBS10 | c.1280A>T (p.Asp427Val) | |
12 | g.76346705T>C | CA385811796 | BBS10 | c.1280A>G (p.Asp427Gly) | ClinVar dbSNP gnomAD v4 |
12 | g.76346705T>G | CA385811803 | BBS10 | c.1280A>C (p.Asp427Ala) | |
12 | g.76346705T= | CA2047353438 | BBS10 | c.1280A= (p.Asp427=) | |
12 | g.76346706C>A | CA385811806 | BBS10 | c.1279G>T (p.Asp427Tyr) | |
12 | g.76346706C= | CA2047353439 | BBS10 | c.1279G= (p.Asp427=) | |
12 | g.76346706C>G | CA239331917 | BBS10 | c.1279G>C (p.Asp427His) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346706C>T | CA385811807 | BBS10 | c.1279G>A (p.Asp427Asn) | dbSNP gnomAD v4 |
12 | g.76346707T>A | CA385811808 | BBS10 | c.1278A>T (p.Lys426Asn) | |
12 | g.76346707T>C | CA481011192 | BBS10 | c.1278A>G (p.Lys426=) | ClinVar |
12 | g.76346707T>G | CA385811809 | BBS10 | c.1278A>C (p.Lys426Asn) | |
12 | g.76346708T>A | CA385811812 | BBS10 | c.1277A>T (p.Lys426Ile) | |
12 | g.76346708T>C | CA239331924 | BBS10 | c.1277A>G (p.Lys426Arg) | ClinVar dbSNP gnomAD v4 |
12 | g.76346708T>G | CA385811814 | BBS10 | c.1277A>C (p.Lys426Thr) | |
12 | g.76346708T= | CA2047353440 | BBS10 | c.1277A= (p.Lys426=) | |
12 | g.76346709T>A | CA385811819 | BBS10 | c.1276A>T (p.Lys426Ter) | |
12 | g.76346709T>C | CA6694198 | BBS10 | c.1276A>G (p.Lys426Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346709T>G | CA385811821 | BBS10 | c.1276A>C (p.Lys426Gln) | |
12 | g.76346709T= | CA2047353441 | BBS10 | c.1276A= (p.Lys426=) | |
12 | g.76346710A>C | CA385811824 | BBS10 | c.1275T>G (p.Phe425Leu) | |
12 | g.76346710A>G | CA481011195 | BBS10 | c.1275T>C (p.Phe425=) | |
12 | g.76346710A>T | CA385811826 | BBS10 | c.1275T>A (p.Phe425Leu) | |
12 | g.76346711A>C | CA385811829 | BBS10 | c.1274T>G (p.Phe425Cys) | |
12 | g.76346711A>G | CA385811834 | BBS10 | c.1274T>C (p.Phe425Ser) | |
12 | g.76346711A>T | CA385811837 | BBS10 | c.1274T>A (p.Phe425Tyr) | |
12 | g.76346712A>C | CA385811840 | BBS10 | c.1273T>G (p.Phe425Val) | |
12 | g.76346712A>G | CA385811842 | BBS10 | c.1273T>C (p.Phe425Leu) | |
12 | g.76346712A>T | CA385811845 | BBS10 | c.1273T>A (p.Phe425Ile) | |
12 | g.76346713del | CA2580086681 | BBS10 | c.1272del (p.Leu424PhefsTer7) | ClinVar |
12 | g.76346713T>A | CA385811851 | BBS10 | c.1272A>T (p.Leu424Phe) | |
12 | g.76346713T>C | CA481011200 | BBS10 | c.1272A>G (p.Leu424=) | |
12 | g.76346713T>G | CA385811848 | BBS10 | c.1272A>C (p.Leu424Phe) | |
12 | g.76346714A= | CA2047353442 | BBS10 | c.1271T= (p.Leu424=) | |
12 | g.76346714A>C | CA385811856 | BBS10 | c.1271T>G (p.Leu424Ter) | |
12 | g.76346714A>G | CA385811860 | BBS10 | c.1271T>C (p.Leu424Ser) | dbSNP gnomAD v4 |
12 | g.76346714A>T | CA385811858 | BBS10 | c.1271T>A (p.Leu424Ter) | |
12 | g.76346715A>C | CA385811862 | BBS10 | c.1270T>G (p.Leu424Val) | |
12 | g.76346715A>G | CA481011202 | BBS10 | c.1270T>C (p.Leu424=) | |
12 | g.76346715A>T | CA385811864 | BBS10 | c.1270T>A (p.Leu424Ile) | |
12 | g.76346716T>A | CA385811866 | BBS10 | c.1269A>T (p.Gln423His) | |
12 | g.76346716T>C | CA481011204 | BBS10 | c.1269A>G (p.Gln423=) | ClinVar gnomAD v4 |
12 | g.76346716T>G | CA385811867 | BBS10 | c.1269A>C (p.Gln423His) | |
12 | g.76346717T>A | CA385811869 | BBS10 | c.1268A>T (p.Gln423Leu) | |
12 | g.76346717T>C | CA385811871 | BBS10 | c.1268A>G (p.Gln423Arg) | |
12 | g.76346717T>G | CA385811873 | BBS10 | c.1268A>C (p.Gln423Pro) | |
12 | g.76346718G>A | CA385811876 | BBS10 | c.1267C>T (p.Gln423Ter) | |
12 | g.76346718G>C | CA385811878 | BBS10 | c.1267C>G (p.Gln423Glu) |