| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.76346693_76346696del | CA2573148992 | BBS10 | c.1290_1293del (p.Asn431ThrfsTer2) | ClinVar dbSNP |
| 12 | g.76346694T>A | CA385811728 | BBS10 | c.1291A>T (p.Asn431Tyr) | |
| 12 | g.76346694T>C | CA385811730 | BBS10 | c.1291A>G (p.Asn431Asp) | |
| 12 | g.76346694T>G | CA385811732 | BBS10 | c.1291A>C (p.Asn431His) | |
| 12 | g.76346695T>A | CA481011161 | BBS10 | c.1290A>T (p.Leu430=) | |
| 12 | g.76346695T>C | CA481011166 | BBS10 | c.1290A>G (p.Leu430=) | |
| 12 | g.76346695T>G | CA481011163 | BBS10 | c.1290A>C (p.Leu430=) | |
| 12 | g.76346696A>C | CA385811735 | BBS10 | c.1289T>G (p.Leu430Arg) | |
| 12 | g.76346696A>G | CA385811738 | BBS10 | c.1289T>C (p.Leu430Pro) | gnomAD v4 |
| 12 | g.76346696A>T | CA385811737 | BBS10 | c.1289T>A (p.Leu430Gln) | |
| 12 | g.76346697G>A | CA481011167 | BBS10 | c.1288C>T (p.Leu430=) | |
| 12 | g.76346697G>C | CA385811739 | BBS10 | c.1288C>G (p.Leu430Val) | |
| 12 | g.76346697G>T | CA385811740 | BBS10 | c.1288C>A (p.Leu430Ile) | |
| 12 | g.76346698A= | CA2047353435 | BBS10 | c.1287T= (p.Asp429=) | |
| 12 | g.76346698A>C | CA385811741 | BBS10 | c.1287T>G (p.Asp429Glu) | |
| 12 | g.76346698A>G | CA6694197 | BBS10 | c.1287T>C (p.Asp429=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.76346698A>T | CA385811745 | BBS10 | c.1287T>A (p.Asp429Glu) | |
| 12 | g.76346699T>A | CA385811748 | BBS10 | c.1286A>T (p.Asp429Val) | dbSNP gnomAD v2 |
| 12 | g.76346699T>C | CA385811751 | BBS10 | c.1286A>G (p.Asp429Gly) | dbSNP gnomAD v4 |
| 12 | g.76346699T>G | CA385811756 | BBS10 | c.1286A>C (p.Asp429Ala) | |
| 12 | g.76346699T= | CA2047353436 | BBS10 | c.1286A= (p.Asp429=) | |
| 12 | g.76346700C>A | CA385811759 | BBS10 | c.1285G>T (p.Asp429Tyr) | gnomAD v4 |
| 12 | g.76346700C>G | CA385811761 | BBS10 | c.1285G>C (p.Asp429His) | |
| 12 | g.76346700C>T | CA385811764 | BBS10 | c.1285G>A (p.Asp429Asn) | |
| 12 | g.76346701A= | CA2047353437 | BBS10 | c.1284T= (p.Leu428=) | |
| 12 | g.76346701A>C | CA481011173 | BBS10 | c.1284T>G (p.Leu428=) | |
| 12 | g.76346701A>G | CA481011174 | BBS10 | c.1284T>C (p.Leu428=) | |
| 12 | g.76346701A>T | CA481011177 | BBS10 | c.1284T>A (p.Leu428=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.76346702A>C | CA385811767 | BBS10 | c.1283T>G (p.Leu428Arg) | |
| 12 | g.76346702A>G | CA385811771 | BBS10 | c.1283T>C (p.Leu428Pro) | |
| 12 | g.76346702A>T | CA385811769 | BBS10 | c.1283T>A (p.Leu428His) | |
| 12 | g.76346703G>A | CA385811773 | BBS10 | c.1282C>T (p.Leu428Phe) | |
| 12 | g.76346703G>C | CA385811775 | BBS10 | c.1282C>G (p.Leu428Val) | |
| 12 | g.76346703G>T | CA385811781 | BBS10 | c.1282C>A (p.Leu428Ile) | |
| 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 |