Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.76346594G>A | CA385811273 | BBS10 | c.1391C>T (p.Ser464Leu) | dbSNP gnomAD v4 |
12 | g.76346594G>C | CA6694180 | BBS10 | c.1391C>G (p.Ser464Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346594G= | CA2047353390 | BBS10 | c.1391C= (p.Ser464=) | |
12 | g.76346594G>T | CA385811274 | BBS10 | c.1391C>A (p.Ser464Ter) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346595A>C | CA385811275 | BBS10 | c.1390T>G (p.Ser464Ala) | |
12 | g.76346595A>G | CA385811276 | BBS10 | c.1390T>C (p.Ser464Pro) | gnomAD v4 |
12 | g.76346595A>T | CA385811277 | BBS10 | c.1390T>A (p.Ser464Thr) | |
12 | g.76346596G>A | CA481011276 | BBS10 | c.1389C>T (p.Gly463=) | |
12 | g.76346596G>C | CA481011277 | BBS10 | c.1389C>G (p.Gly463=) | |
12 | g.76346596G>T | CA481011278 | BBS10 | c.1389C>A (p.Gly463=) | |
12 | g.76346597C>A | CA385811278 | BBS10 | c.1388G>T (p.Gly463Val) | |
12 | g.76346597C>G | CA385811279 | BBS10 | c.1388G>C (p.Gly463Ala) | |
12 | g.76346597C>T | CA385811280 | BBS10 | c.1388G>A (p.Gly463Asp) | dbSNP |
12 | g.76346598C>A | CA385811283 | BBS10 | c.1387G>T (p.Gly463Cys) | |
12 | g.76346598C>G | CA385811282 | BBS10 | c.1387G>C (p.Gly463Arg) | |
12 | g.76346598C>T | CA385811281 | BBS10 | c.1387G>A (p.Gly463Ser) | |
12 | g.76346599A>C | CA385811284 | BBS10 | c.1386T>G (p.Asn462Lys) | |
12 | g.76346599A>G | CA481011282 | BBS10 | c.1386T>C (p.Asn462=) | dbSNP |
12 | g.76346599A>T | CA385811285 | BBS10 | c.1386T>A (p.Asn462Lys) | |
12 | g.76346600T>A | CA385811286 | BBS10 | c.1385A>T (p.Asn462Ile) | |
12 | g.76346600T>C | CA385811287 | BBS10 | c.1385A>G (p.Asn462Ser) | dbSNP gnomAD v4 |
12 | g.76346600T>G | CA385811288 | BBS10 | c.1385A>C (p.Asn462Thr) | |
12 | g.76346600T= | CA2047353391 | BBS10 | c.1385A= (p.Asn462=) | |
12 | g.76346601T>A | CA385811289 | BBS10 | c.1384A>T (p.Asn462Tyr) | |
12 | g.76346601T>C | CA385811290 | BBS10 | c.1384A>G (p.Asn462Asp) | |
12 | g.76346601T>G | CA385811291 | BBS10 | c.1384A>C (p.Asn462His) | |
12 | g.76346602A= | CA2047353392 | BBS10 | c.1383T= (p.Gly461=) | |
12 | g.76346602A>C | CA481011285 | BBS10 | c.1383T>G (p.Gly461=) | |
12 | g.76346602A>G | CA239331851 | BBS10 | c.1383T>C (p.Gly461=) | ClinVar dbSNP gnomAD v4 |
12 | g.76346602A>T | CA481011287 | BBS10 | c.1383T>A (p.Gly461=) | ClinVar |
12 | g.76346603C>A | CA385811292 | BBS10 | c.1382G>T (p.Gly461Val) | dbSNP |
12 | g.76346603C= | CA2047353393 | BBS10 | c.1382G= (p.Gly461=) | |
12 | g.76346603C>G | CA385811293 | BBS10 | c.1382G>C (p.Gly461Ala) | |
12 | g.76346603C>T | CA385811294 | BBS10 | c.1382G>A (p.Gly461Asp) | gnomAD v4 |
12 | g.76346604C>A | CA385811295 | BBS10 | c.1381G>T (p.Gly461Cys) | |
12 | g.76346604C= | CA2047353394 | BBS10 | c.1381G= (p.Gly461=) | |
12 | g.76346604C>G | CA385811296 | BBS10 | c.1381G>C (p.Gly461Arg) | |
12 | g.76346604C>T | CA6694181 | BBS10 | c.1381G>A (p.Gly461Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346605A= | CA2047353395 | BBS10 | c.1380T= (p.Pro460=) | |
12 | g.76346605A>C | CA239331856 | BBS10 | c.1380T>G (p.Pro460=) | dbSNP |
12 | g.76346605A>G | CA481011289 | BBS10 | c.1380T>C (p.Pro460=) | gnomAD v4 |
12 | g.76346605A>T | CA481011288 | BBS10 | c.1380T>A (p.Pro460=) | |
12 | g.76346606G>A | CA385811297 | BBS10 | c.1379C>T (p.Pro460Leu) | |
12 | g.76346606G>C | CA385811298 | BBS10 | c.1379C>G (p.Pro460Arg) | |
12 | g.76346606G>T | CA385811299 | BBS10 | c.1379C>A (p.Pro460His) | |
12 | g.76346607G>A | CA385811300 | BBS10 | c.1378C>T (p.Pro460Ser) | gnomAD v4 |
12 | g.76346607G>C | CA385811301 | BBS10 | c.1378C>G (p.Pro460Ala) | |
12 | g.76346607G>T | CA385811302 | BBS10 | c.1378C>A (p.Pro460Thr) | |
12 | g.76346608A>C | CA385811303 | BBS10 | c.1377T>G (p.Asp459Glu) | |
12 | g.76346608A>G | CA481011027 | BBS10 | c.1377T>C (p.Asp459=) |