12 | g.76346257_76346271del | CA2619945593 | BBS10 | c.1717_1731del (p.Met573_Ser577del)
| gnomAD v4 |
12 | g.76346256T>A | CA385810309 | BBS10 | c.1729A>T (p.Ser577Cys)
| |
12 | g.76346256T>C | CA385810306 | BBS10 | c.1729A>G (p.Ser577Gly)
| |
12 | g.76346256T>G | CA385810304 | BBS10 | c.1729A>C (p.Ser577Arg)
| |
12 | g.76346257C>A | CA481011082 | BBS10 | c.1728G>T (p.Val576=)
| |
12 | g.76346257C= | CA2047353227 | BBS10 | c.1728G= (p.Val576=)
| |
12 | g.76346257C>G | CA481011081 | BBS10 | c.1728G>C (p.Val576=)
| |
12 | g.76346257C>T | CA481011080 | BBS10 | c.1728G>A (p.Val576=)
| dbSNP gnomAD v2 |
12 | g.76346258A>C | CA385810311 | BBS10 | c.1727T>G (p.Val576Gly)
| gnomAD v4 |
12 | g.76346258A>G | CA385810313 | BBS10 | c.1727T>C (p.Val576Ala)
| |
12 | g.76346258A>T | CA385810315 | BBS10 | c.1727T>A (p.Val576Glu)
| |
12 | g.76346259C>A | CA385810318 | BBS10 | c.1726G>T (p.Val576Leu)
| |
12 | g.76346259C>G | CA385810320 | BBS10 | c.1726G>C (p.Val576Leu)
| |
12 | g.76346259C>T | CA385810323 | BBS10 | c.1726G>A (p.Val576Met)
| gnomAD v4 |
12 | g.76346260T>A | CA481011089 | BBS10 | c.1725A>T (p.Pro575=)
| |
12 | g.76346260T>C | CA481011091 | BBS10 | c.1725A>G (p.Pro575=)
| |
12 | g.76346260T>G | CA481011092 | BBS10 | c.1725A>C (p.Pro575=)
| ClinVar |
12 | g.76346260_76346261delinsTG | CA2047353228 | BBS10 | c.1724_1725delinsCA (p.Pro575=)
| |
12 | g.76346261G>A | CA385810324 | BBS10 | c.1724C>T (p.Pro575Leu)
| ClinVar |
12 | g.76346261G>C | CA385810326 | BBS10 | c.1724C>G (p.Pro575Arg)
| |
12 | g.76346261G>T | CA385810325 | BBS10 | c.1724C>A (p.Pro575Gln)
| gnomAD v4 |
12 | g.76346262del | CA16041576 | BBS10 | c.1724del (p.Pro575GlnfsTer2)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346262G>A | CA385810328 | BBS10 | c.1723C>T (p.Pro575Ser)
| |
12 | g.76346262G>C | CA385810330 | BBS10 | c.1723C>G (p.Pro575Ala)
| |
12 | g.76346262G= | CA2047353229 | BBS10 | c.1723C= (p.Pro575=)
| |
12 | g.76346262G>T | CA385810332 | BBS10 | c.1723C>A (p.Pro575Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346263T>A | CA385810335 | BBS10 | c.1722A>T (p.Leu574Phe)
| |
12 | g.76346263T>C | CA481011101 | BBS10 | c.1722A>G (p.Leu574=)
| |
12 | g.76346263T>G | CA385810336 | BBS10 | c.1722A>C (p.Leu574Phe)
| |
12 | g.76346264A>C | CA385810339 | BBS10 | c.1721T>G (p.Leu574Ter)
| |
12 | g.76346264A>G | CA385810341 | BBS10 | c.1721T>C (p.Leu574Ser)
| |
12 | g.76346264A>T | CA385810352 | BBS10 | c.1721T>A (p.Leu574Ter)
| |
12 | g.76346265A>C | CA385810354 | BBS10 | c.1720T>G (p.Leu574Val)
| |
12 | g.76346265A>G | CA481011105 | BBS10 | c.1720T>C (p.Leu574=)
| |
12 | g.76346265A>T | CA385810355 | BBS10 | c.1720T>A (p.Leu574Ile)
| |
12 | g.76346266C>A | CA385810361 | BBS10 | c.1719G>T (p.Met573Ile)
| |
12 | g.76346266C= | CA2047353230 | BBS10 | c.1719G= (p.Met573=)
| |
12 | g.76346266C>G | CA6694116 | BBS10 | c.1719G>C (p.Met573Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346266C>T | CA385810359 | BBS10 | c.1719G>A (p.Met573Ile)
| |
12 | g.76346267A>C | CA385810366 | BBS10 | c.1718T>G (p.Met573Arg)
| |
12 | g.76346267A>G | CA385810364 | BBS10 | c.1718T>C (p.Met573Thr)
| gnomAD v4 |
12 | g.76346267A>T | CA385810368 | BBS10 | c.1718T>A (p.Met573Lys)
| |
12 | g.76346268T>A | CA385810369 | BBS10 | c.1717A>T (p.Met573Leu)
| |
12 | g.76346268T>C | CA385810372 | BBS10 | c.1717A>G (p.Met573Val)
| gnomAD v4 |
12 | g.76346268T>G | CA385810370 | BBS10 | c.1717A>C (p.Met573Leu)
| |
12 | g.76346268_76346269insACG | CA2796591355 | BBS10 | c.1716_1717insCGT (p.Ser572_Met573insArg)
| |
12 | g.76346269G>A | CA481011112 | BBS10 | c.1716C>T (p.Ser572=)
| ClinVar dbSNP |
12 | g.76346269G>C | CA385810374 | BBS10 | c.1716C>G (p.Ser572Arg)
| |
12 | g.76346269G>T | CA385810376 | BBS10 | c.1716C>A (p.Ser572Arg)
| gnomAD v4 |
12 | g.76346270C>A | CA385810378 | BBS10 | c.1715G>T (p.Ser572Ile)
| |
12 | g.76346270C= | CA2047353231 | BBS10 | c.1715G= (p.Ser572=)
| |
12 | g.76346270C>G | CA385810380 | BBS10 | c.1715G>C (p.Ser572Thr)
| |
12 | g.76346270C>T | CA385810383 | BBS10 | c.1715G>A (p.Ser572Asn)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346271T>A | CA385810384 | BBS10 | c.1714A>T (p.Ser572Cys)
| |
12 | g.76346271T>C | CA385810387 | BBS10 | c.1714A>G (p.Ser572Gly)
| |
12 | g.76346271T>G | CA385810394 | BBS10 | c.1714A>C (p.Ser572Arg)
| |
12 | g.76346272T>A | CA481011120 | BBS10 | c.1713A>T (p.Gly571=)
| |
12 | g.76346272T>C | CA481011122 | BBS10 | c.1713A>G (p.Gly571=)
| |
12 | g.76346272T>G | CA481011123 | BBS10 | c.1713A>C (p.Gly571=)
| |
12 | g.76346273C>A | CA385810396 | BBS10 | c.1712G>T (p.Gly571Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346273C= | CA2047353232 | BBS10 | c.1712G= (p.Gly571=)
| |
12 | g.76346273C>G | CA385810398 | BBS10 | c.1712G>C (p.Gly571Ala)
| |
12 | g.76346273C>T | CA385810400 | BBS10 | c.1712G>A (p.Gly571Glu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346274C>A | CA6694117 | BBS10 | c.1711G>T (p.Gly571Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346274C= | CA2047353233 | BBS10 | c.1711G= (p.Gly571=)
| |
12 | g.76346274C>G | CA385810404 | BBS10 | c.1711G>C (p.Gly571Arg)
| |
12 | g.76346274C>T | CA385810406 | BBS10 | c.1711G>A (p.Gly571Arg)
| |
12 | g.76346275C>A | CA385810412 | BBS10 | c.1710G>T (p.Lys570Asn)
| |
12 | g.76346275C= | CA2047353234 | BBS10 | c.1710G= (p.Lys570=)
| |
12 | g.76346275C>G | CA385810415 | BBS10 | c.1710G>C (p.Lys570Asn)
| |
12 | g.76346275C>T | CA481011135 | BBS10 | c.1710G>A (p.Lys570=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346275_76346277delinsCTT | CA2047353235 | BBS10 | c.1708_1710delinsAAG (p.Lys570=)
| |
12 | g.76346276T>A | CA385810418 | BBS10 | c.1709A>T (p.Lys570Met)
| |
12 | g.76346276T>C | CA385810422 | BBS10 | c.1709A>G (p.Lys570Arg)
| dbSNP |
12 | g.76346276T>G | CA385810424 | BBS10 | c.1709A>C (p.Lys570Thr)
| |
12 | g.76346276T= | CA2047353237 | BBS10 | c.1709A= (p.Lys570=)
| |
12 | g.76346277_76346278del | CA2047353236 | BBS10 | c.1708_1709del (p.Lys570GlyfsTer9)
| dbSNP |
12 | g.76346277T>A | CA385810428 | BBS10 | c.1708A>T (p.Lys570Ter)
| |
12 | g.76346277T>C | CA385810430 | BBS10 | c.1708A>G (p.Lys570Glu)
| |
12 | g.76346277T>G | CA385810433 | BBS10 | c.1708A>C (p.Lys570Gln)
| |
12 | g.76346278T>A | CA385810436 | BBS10 | c.1707A>T (p.Arg569Ser)
| |
12 | g.76346278T>C | CA481011144 | BBS10 | c.1707A>G (p.Arg569=)
| |
12 | g.76346278T>G | CA385810439 | BBS10 | c.1707A>C (p.Arg569Ser)
| |
12 | g.76346279C>A | CA385810444 | BBS10 | c.1706G>T (p.Arg569Ile)
| |
12 | g.76346279C>G | CA385810446 | BBS10 | c.1706G>C (p.Arg569Thr)
| |
12 | g.76346279C>T | CA385810441 | BBS10 | c.1706G>A (p.Arg569Lys)
| |
12 | g.76346280T>A | CA385810448 | BBS10 | c.1705A>T (p.Arg569Ter)
| |
12 | g.76346280T>C | CA385810451 | BBS10 | c.1705A>G (p.Arg569Gly)
| |
12 | g.76346280T>G | CA481011146 | BBS10 | c.1705A>C (p.Arg569=)
| |
12 | g.76346281A= | CA2047353238 | BBS10 | c.1704T= (p.Thr568=)
| |
12 | g.76346281A>C | CA481011148 | BBS10 | c.1704T>G (p.Thr568=)
| |
12 | g.76346281A>G | CA481011150 | BBS10 | c.1704T>C (p.Thr568=)
| ClinVar dbSNP |
12 | g.76346281A>T | CA481011154 | BBS10 | c.1704T>A (p.Thr568=)
| |
12 | g.76346282G>A | CA385810452 | BBS10 | c.1703C>T (p.Thr568Ile)
| |
12 | g.76346282G>C | CA385810454 | BBS10 | c.1703C>G (p.Thr568Ser)
| gnomAD v4 |
12 | g.76346282G>T | CA385810455 | BBS10 | c.1703C>A (p.Thr568Asn)
| |
12 | g.76346283del | CA2580086677 | BBS10 | c.1702del (p.Thr568LeufsTer9)
| ClinVar |
12 | g.76346283T>A | CA385810457 | BBS10 | c.1702A>T (p.Thr568Ser)
| |
12 | g.76346283T>C | CA239331651 | BBS10 | c.1702A>G (p.Thr568Ala)
| dbSNP gnomAD v4 |
12 | g.76346283T>G | CA385810460 | BBS10 | c.1702A>C (p.Thr568Pro)
| |
12 | g.76346283T= | CA2047353239 | BBS10 | c.1702A= (p.Thr568=)
| |
12 | g.76346284A>C | CA385810462 | BBS10 | c.1701T>G (p.Ile567Met)
| |
12 | g.76346284A>G | CA481011162 | BBS10 | c.1701T>C (p.Ile567=)
| |
12 | g.76346284A>T | CA481011165 | BBS10 | c.1701T>A (p.Ile567=)
| |
12 | g.76346285dup | CA2695199109 | BBS10 | c.1701dup (p.Thr568TyrfsTer2)
| ClinVar |
12 | g.76346285A= | CA2047353240 | BBS10 | c.1700T= (p.Ile567=)
| |
12 | g.76346285A>C | CA385810463 | BBS10 | c.1700T>G (p.Ile567Ser)
| |
12 | g.76346285A>G | CA6694118 | BBS10 | c.1700T>C (p.Ile567Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346285A>T | CA385810465 | BBS10 | c.1700T>A (p.Ile567Asn)
| |
12 | g.76346286T>A | CA385810469 | BBS10 | c.1699A>T (p.Ile567Phe)
| |
12 | g.76346286T>C | CA385810470 | BBS10 | c.1699A>G (p.Ile567Val)
| |
12 | g.76346286T>G | CA385810467 | BBS10 | c.1699A>C (p.Ile567Leu)
| |
12 | g.76346287A>C | CA385810472 | BBS10 | c.1698T>G (p.Asn566Lys)
| |
12 | g.76346287A>G | CA481011169 | BBS10 | c.1698T>C (p.Asn566=)
| ClinVar |
12 | g.76346287A>T | CA385810474 | BBS10 | c.1698T>A (p.Asn566Lys)
| |
12 | g.76346288T>A | CA385810482 | BBS10 | c.1697A>T (p.Asn566Ile)
| |
12 | g.76346288T>C | CA385810483 | BBS10 | c.1697A>G (p.Asn566Ser)
| dbSNP gnomAD v4 |
12 | g.76346288T>G | CA385810485 | BBS10 | c.1697A>C (p.Asn566Thr)
| |
12 | g.76346288T= | CA2047353241 | BBS10 | c.1697A= (p.Asn566=)
| |
12 | g.76346289T>A | CA385810489 | BBS10 | c.1696A>T (p.Asn566Tyr)
| |
12 | g.76346289T>C | CA6694119 | BBS10 | c.1696A>G (p.Asn566Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346289T>G | CA385810487 | BBS10 | c.1696A>C (p.Asn566His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346289T= | CA2047353242 | BBS10 | c.1696A= (p.Asn566=)
| |
12 | g.76346290T>A | CA481011175 | BBS10 | c.1695A>T (p.Thr565=)
| |
12 | g.76346290T>C | CA481011176 | BBS10 | c.1695A>G (p.Thr565=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346290T>G | CA481011179 | BBS10 | c.1695A>C (p.Thr565=)
| |
12 | g.76346290T= | CA2047353243 | BBS10 | c.1695A= (p.Thr565=)
| |
12 | g.76346291G>A | CA385810491 | BBS10 | c.1694C>T (p.Thr565Ile)
| |
12 | g.76346291G>C | CA385810492 | BBS10 | c.1694C>G (p.Thr565Arg)
| |
12 | g.76346291G= | CA2047353244 | BBS10 | c.1694C= (p.Thr565=)
| |
12 | g.76346291G>T | CA6694120 | BBS10 | c.1694C>A (p.Thr565Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346292T>A | CA385810495 | BBS10 | c.1693A>T (p.Thr565Ser)
| |
12 | g.76346292T>C | CA385810496 | BBS10 | c.1693A>G (p.Thr565Ala)
| |
12 | g.76346292T>G | CA385810498 | BBS10 | c.1693A>C (p.Thr565Pro)
| gnomAD v4 |
12 | g.76346293G>A | CA481011184 | BBS10 | c.1692C>T (p.Val564=)
| dbSNP |
12 | g.76346293G>C | CA481011185 | BBS10 | c.1692C>G (p.Val564=)
| |
12 | g.76346293G= | CA2047353245 | BBS10 | c.1692C= (p.Val564=)
| |
12 | g.76346293G>T | CA481011187 | BBS10 | c.1692C>A (p.Val564=)
| |
12 | g.76346294A>C | CA385810502 | BBS10 | c.1691T>G (p.Val564Gly)
| |
12 | g.76346294A>G | CA385810503 | BBS10 | c.1691T>C (p.Val564Ala)
| |
12 | g.76346294A>T | CA385810501 | BBS10 | c.1691T>A (p.Val564Asp)
| |
12 | g.76346295C>A | CA385810507 | BBS10 | c.1690G>T (p.Val564Phe)
| gnomAD v4 |
12 | g.76346295C>G | CA385810504 | BBS10 | c.1690G>C (p.Val564Leu)
| |
12 | g.76346295C>T | CA385810505 | BBS10 | c.1690G>A (p.Val564Ile)
| gnomAD v4 |
12 | g.76346296C>A | CA385810508 | BBS10 | c.1689G>T (p.Gln563His)
| |
12 | g.76346296C>G | CA385810509 | BBS10 | c.1689G>C (p.Gln563His)
| |
12 | g.76346296C>T | CA481011194 | BBS10 | c.1689G>A (p.Gln563=)
| |
12 | g.76346297T>A | CA385810510 | BBS10 | c.1688A>T (p.Gln563Leu)
| |
12 | g.76346297T>C | CA385810511 | BBS10 | c.1688A>G (p.Gln563Arg)
| gnomAD v4 |
12 | g.76346297T>G | CA385810513 | BBS10 | c.1688A>C (p.Gln563Pro)
| |
12 | g.76346298G>A | CA385810514 | BBS10 | c.1687C>T (p.Gln563Ter)
| ClinVar dbSNP |
12 | g.76346298G>C | CA385810515 | BBS10 | c.1687C>G (p.Gln563Glu)
| |
12 | g.76346298G= | CA2047353246 | BBS10 | c.1687C= (p.Gln563=)
| |
12 | g.76346298G>T | CA385810519 | BBS10 | c.1687C>A (p.Gln563Lys)
| |
12 | g.76346299T>A | CA385810520 | BBS10 | c.1686A>T (p.Leu562Phe)
| |
12 | g.76346299T>C | CA481011199 | BBS10 | c.1686A>G (p.Leu562=)
| ClinVar dbSNP COSMIC |
12 | g.76346299T>G | CA385810522 | BBS10 | c.1686A>C (p.Leu562Phe)
| |
12 | g.76346299T= | CA2047353247 | BBS10 | c.1686A= (p.Leu562=)
| |
12 | g.76346300A>C | CA385810526 | BBS10 | c.1685T>G (p.Leu562Ter)
| |
12 | g.76346300A>G | CA385810527 | BBS10 | c.1685T>C (p.Leu562Ser)
| |
12 | g.76346300A>T | CA385810523 | BBS10 | c.1685T>A (p.Leu562Ter)
| |
12 | g.76346301A= | CA2047353248 | BBS10 | c.1684T= (p.Leu562=)
| |
12 | g.76346301A>C | CA6694121 | BBS10 | c.1684T>G (p.Leu562Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346301A>G | CA6694123 | BBS10 | c.1684T>C (p.Leu562=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346301A>T | CA6694122 | BBS10 | c.1684T>A (p.Leu562Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346302A= | CA2047353249 | BBS10 | c.1683T= (p.Asn561=)
| |
12 | g.76346302A>C | CA385810533 | BBS10 | c.1683T>G (p.Asn561Lys)
| |
12 | g.76346302A>G | CA481011206 | BBS10 | c.1683T>C (p.Asn561=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346302A>T | CA385810534 | BBS10 | c.1683T>A (p.Asn561Lys)
| |
12 | g.76346303T>A | CA385810537 | BBS10 | c.1682A>T (p.Asn561Ile)
| |
12 | g.76346303T>C | CA385810535 | BBS10 | c.1682A>G (p.Asn561Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346303T>G | CA385810536 | BBS10 | c.1682A>C (p.Asn561Thr)
| |
12 | g.76346303T= | CA2047353250 | BBS10 | c.1682A= (p.Asn561=)
| |
12 | g.76346304T>A | CA385810538 | BBS10 | c.1681A>T (p.Asn561Tyr)
| |
12 | g.76346304T>C | CA385810540 | BBS10 | c.1681A>G (p.Asn561Asp)
| gnomAD v4 |
12 | g.76346304T>G | CA385810543 | BBS10 | c.1681A>C (p.Asn561His)
| |
12 | g.76346305T>A | CA385810545 | BBS10 | c.1680A>T (p.Glu560Asp)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346305T>C | CA481011213 | BBS10 | c.1680A>G (p.Glu560=)
| |
12 | g.76346305T>G | CA385810548 | BBS10 | c.1680A>C (p.Glu560Asp)
| |
12 | g.76346305T= | CA2047353251 | BBS10 | c.1680A= (p.Glu560=)
| |
12 | g.76346306T>A | CA385810553 | BBS10 | c.1679A>T (p.Glu560Val)
| |
12 | g.76346306T>C | CA385810551 | BBS10 | c.1679A>G (p.Glu560Gly)
| gnomAD v4 |
12 | g.76346306T>G | CA385810550 | BBS10 | c.1679A>C (p.Glu560Ala)
| |
12 | g.76346307C>A | CA385810555 | BBS10 | c.1678G>T (p.Glu560Ter)
| |
12 | g.76346307C= | CA2047353253 | BBS10 | c.1678G= (p.Glu560=)
| |
12 | g.76346307C>G | CA385810557 | BBS10 | c.1678G>C (p.Glu560Gln)
| |
12 | g.76346307C>T | CA6694124 | BBS10 | c.1678G>A (p.Glu560Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346307_76346308delinsCG | CA2047353252 | BBS10 | c.1677_1678delinsCG (p.Tyr559=)
| |
12 | g.76346308del | CA606185890 | BBS10 | c.1677del (p.Tyr559Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346308G>A | CA6694125 | BBS10 | c.1677C>T (p.Tyr559=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.76346308G>C | CA16041577 | BBS10 | c.1677C>G (p.Tyr559Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346308G= | CA2047353254 | BBS10 | c.1677C= (p.Tyr559=)
| |
12 | g.76346308G>T | CA6694126 | BBS10 | c.1677C>A (p.Tyr559Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346309del | CA2695199110 | BBS10 | c.1676del (p.Tyr559SerfsTer18)
| ClinVar |
12 | g.76346309T>A | CA385810561 | BBS10 | c.1676A>T (p.Tyr559Phe)
| |
12 | g.76346309T>C | CA385810562 | BBS10 | c.1676A>G (p.Tyr559Cys)
| |
12 | g.76346309T>G | CA385810563 | BBS10 | c.1676A>C (p.Tyr559Ser)
| |
12 | g.76346309dup | CA913191137 | BBS10 | c.1676dup (p.Tyr559Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346309_76346312delinsTAAG | CA2047353255 | BBS10 | c.1673_1676delinsCTTA (p.Ser558=)
| |
12 | g.76346310A>C | CA385810566 | BBS10 | c.1675T>G (p.Tyr559Asp)
| |
12 | g.76346310A>G | CA385810567 | BBS10 | c.1675T>C (p.Tyr559His)
| gnomAD v4 |
12 | g.76346310A>T | CA385810569 | BBS10 | c.1675T>A (p.Tyr559Asn)
| |
12 | g.76346312_76346314del | CA6694127 | BBS10 | c.1673_1675del (p.Ser558del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346311A= | CA2047353256 | BBS10 | c.1674T= (p.Ser558=)
| |
12 | g.76346311A>C | CA6694128 | BBS10 | c.1674T>G (p.Ser558=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346311A>G | CA481011226 | BBS10 | c.1674T>C (p.Ser558=)
| |
12 | g.76346311A>T | CA481011224 | BBS10 | c.1674T>A (p.Ser558=)
| |
12 | g.76346312G>A | CA385810576 | BBS10 | c.1673C>T (p.Ser558Phe)
| |
12 | g.76346312G>C | CA385810574 | BBS10 | c.1673C>G (p.Ser558Cys)
| |
12 | g.76346312G>T | CA385810573 | BBS10 | c.1673C>A (p.Ser558Tyr)
| COSMIC |
12 | g.76346313A>C | CA385810577 | BBS10 | c.1672T>G (p.Ser558Ala)
| |
12 | g.76346313A>G | CA385810579 | BBS10 | c.1672T>C (p.Ser558Pro)
| |
12 | g.76346313A>T | CA385810581 | BBS10 | c.1672T>A (p.Ser558Thr)
| |
12 | g.76346314A>C | CA385810582 | BBS10 | c.1671T>G (p.Ile557Met)
| |
12 | g.76346314A>G | CA481011230 | BBS10 | c.1671T>C (p.Ile557=)
| |
12 | g.76346314A>T | CA481011232 | BBS10 | c.1671T>A (p.Ile557=)
| |
12 | g.76346315A>C | CA385810584 | BBS10 | c.1670T>G (p.Ile557Ser)
| |
12 | g.76346315A>G | CA385810587 | BBS10 | c.1670T>C (p.Ile557Thr)
| |
12 | g.76346315A>T | CA385810588 | BBS10 | c.1670T>A (p.Ile557Asn)
| |
12 | g.76346316T>A | CA385810590 | BBS10 | c.1669A>T (p.Ile557Phe)
| |
12 | g.76346316T>C | CA6694129 | BBS10 | c.1669A>G (p.Ile557Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346316T>G | CA385810591 | BBS10 | c.1669A>C (p.Ile557Leu)
| |
12 | g.76346316T= | CA2047353257 | BBS10 | c.1669A= (p.Ile557=)
| |
12 | g.76346316_76346321delinsTTTCTA | CA2047353258 | BBS10 | c.1664_1669delinsTAGAAA (p.Ile555=)
| |
12 | g.76346317T>A | CA385810593 | BBS10 | c.1668A>T (p.Glu556Asp)
| |
12 | g.76346317T>C | CA481011235 | BBS10 | c.1668A>G (p.Glu556=)
| gnomAD v4 |
12 | g.76346317T>G | CA385810595 | BBS10 | c.1668A>C (p.Glu556Asp)
| |
12 | g.76346324_76346328del | CA16041578 | BBS10 | c.1664_1668del (p.Ile555AsnfsTer13)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346318T>A | CA385810599 | BBS10 | c.1667A>T (p.Glu556Val)
| |
12 | g.76346318T>C | CA385810600 | BBS10 | c.1667A>G (p.Glu556Gly)
| ClinVar |
12 | g.76346318T>G | CA385810597 | BBS10 | c.1667A>C (p.Glu556Ala)
| |
12 | g.76346319C>A | CA385810602 | BBS10 | c.1666G>T (p.Glu556Ter)
| |
12 | g.76346319C>G | CA385810606 | BBS10 | c.1666G>C (p.Glu556Gln)
| |
12 | g.76346319C>T | CA385810604 | BBS10 | c.1666G>A (p.Glu556Lys)
| |
12 | g.76346320T>A | CA481011241 | BBS10 | c.1665A>T (p.Ile555=)
| gnomAD v4 |
12 | g.76346320T>C | CA385810608 | BBS10 | c.1665A>G (p.Ile555Met)
| |
12 | g.76346320T>G | CA481011239 | BBS10 | c.1665A>C (p.Ile555=)
| |
12 | g.76346321A= | CA2047353259 | BBS10 | c.1664T= (p.Ile555=)
| |
12 | g.76346321A>C | CA385810612 | BBS10 | c.1664T>G (p.Ile555Arg)
| |
12 | g.76346321A>G | CA385810610 | BBS10 | c.1664T>C (p.Ile555Thr)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346321A>T | CA385810614 | BBS10 | c.1664T>A (p.Ile555Lys)
| |
12 | g.76346322T>A | CA385810616 | BBS10 | c.1663A>T (p.Ile555Leu)
| |
12 | g.76346322T>C | CA385810617 | BBS10 | c.1663A>G (p.Ile555Val)
| |
12 | g.76346322T>G | CA385810620 | BBS10 | c.1663A>C (p.Ile555Leu)
| |
12 | g.76346323T>A | CA385810622 | BBS10 | c.1662A>T (p.Arg554Ser)
| |
12 | g.76346323T>C | CA481011244 | BBS10 | c.1662A>G (p.Arg554=)
| gnomAD v4 |
12 | g.76346323T>G | CA385810624 | BBS10 | c.1662A>C (p.Arg554Ser)
| |
12 | g.76346324C>A | CA385810627 | BBS10 | c.1661G>T (p.Arg554Ile)
| gnomAD v4 |
12 | g.76346324C>G | CA385810628 | BBS10 | c.1661G>C (p.Arg554Thr)
| |
12 | g.76346324C>T | CA385810630 | BBS10 | c.1661G>A (p.Arg554Lys)
| gnomAD v4 |
12 | g.76346325T>A | CA385810632 | BBS10 | c.1660A>T (p.Arg554Ter)
| |
12 | g.76346325T>C | CA385810633 | BBS10 | c.1660A>G (p.Arg554Gly)
| |
12 | g.76346325T>G | CA481011246 | BBS10 | c.1660A>C (p.Arg554=)
| |
12 | g.76346326A>C | CA385810636 | BBS10 | c.1659T>G (p.Asn553Lys)
| |
12 | g.76346326A>G | CA481011248 | BBS10 | c.1659T>C (p.Asn553=)
| |
12 | g.76346326A>T | CA385810638 | BBS10 | c.1659T>A (p.Asn553Lys)
| |
12 | g.76346327T>A | CA385810642 | BBS10 | c.1658A>T (p.Asn553Ile)
| |
12 | g.76346327T>C | CA385810639 | BBS10 | c.1658A>G (p.Asn553Ser)
| |
12 | g.76346327T>G | CA385810641 | BBS10 | c.1658A>C (p.Asn553Thr)
| |
12 | g.76346328T>A | CA385810643 | BBS10 | c.1657A>T (p.Asn553Tyr)
| |
12 | g.76346328T>C | CA385810645 | BBS10 | c.1657A>G (p.Asn553Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346328T>G | CA385810646 | BBS10 | c.1657A>C (p.Asn553His)
| |
12 | g.76346328T= | CA2047353260 | BBS10 | c.1657A= (p.Asn553=)
| |
12 | g.76346329T>A | CA481011249 | BBS10 | c.1656A>T (p.Gly552=)
| |
12 | g.76346329T>C | CA481011250 | BBS10 | c.1656A>G (p.Gly552=)
| |
12 | g.76346329T>G | CA481011251 | BBS10 | c.1656A>C (p.Gly552=)
| ClinVar dbSNP |
12 | g.76346330C>A | CA385810647 | BBS10 | c.1655G>T (p.Gly552Val)
| |
12 | g.76346330C>G | CA385810649 | BBS10 | c.1655G>C (p.Gly552Ala)
| |
12 | g.76346330C>T | CA385810650 | BBS10 | c.1655G>A (p.Gly552Glu)
| gnomAD v4 |
12 | g.76346333del | CA2726584723 | BBS10 | c.1655del (p.Gly552GlufsTer4)
| dbSNP |
12 | g.76346332_76346333del | CA2695199111 | BBS10 | c.1654_1655del (p.Gly552LysfsTer2)
| ClinVar |
12 | g.76346331C>A | CA385810651 | BBS10 | c.1654G>T (p.Gly552Ter)
| ClinVar dbSNP |
12 | g.76346331C>G | CA385810653 | BBS10 | c.1654G>C (p.Gly552Arg)
| |
12 | g.76346331C>T | CA385810655 | BBS10 | c.1654G>A (p.Gly552Arg)
| COSMIC |
12 | g.76346332C>A | CA385810657 | BBS10 | c.1653G>T (p.Arg551Ser)
| |
12 | g.76346332C>G | CA385810658 | BBS10 | c.1653G>C (p.Arg551Ser)
| |
12 | g.76346332C>T | CA481011253 | BBS10 | c.1653G>A (p.Arg551=)
| |
12 | g.76346333C>A | CA385810663 | BBS10 | c.1652G>T (p.Arg551Met)
| |
12 | g.76346333C= | CA2047353261 | BBS10 | c.1652G= (p.Arg551=)
| |
12 | g.76346333C>G | CA385810662 | BBS10 | c.1652G>C (p.Arg551Thr)
| |
12 | g.76346333C>T | CA385810660 | BBS10 | c.1652G>A (p.Arg551Lys)
| dbSNP |
12 | g.76346334T>A | CA385810665 | BBS10 | c.1651A>T (p.Arg551Trp)
| |
12 | g.76346334T>C | CA385810668 | BBS10 | c.1651A>G (p.Arg551Gly)
| |
12 | g.76346334T>G | CA481011255 | BBS10 | c.1651A>C (p.Arg551=)
| |
12 | g.76346335T>A | CA481011258 | BBS10 | c.1650A>T (p.Thr550=)
| |
12 | g.76346335T>C | CA481011257 | BBS10 | c.1650A>G (p.Thr550=)
| |
12 | g.76346335T>G | CA481011256 | BBS10 | c.1650A>C (p.Thr550=)
| |
12 | g.76346336G>A | CA385810669 | BBS10 | c.1649C>T (p.Thr550Ile)
| |
12 | g.76346336G>C | CA385810671 | BBS10 | c.1649C>G (p.Thr550Arg)
| gnomAD v4 |
12 | g.76346336G>T | CA385810673 | BBS10 | c.1649C>A (p.Thr550Lys)
| |
12 | g.76346337T>A | CA385810675 | BBS10 | c.1648A>T (p.Thr550Ser)
| |
12 | g.76346337T>C | CA385810678 | BBS10 | c.1648A>G (p.Thr550Ala)
| |
12 | g.76346337T>G | CA385810680 | BBS10 | c.1648A>C (p.Thr550Pro)
| |
12 | g.76346338T>A | CA481011262 | BBS10 | c.1647A>T (p.Ser549=)
| |
12 | g.76346338T>C | CA481011263 | BBS10 | c.1647A>G (p.Ser549=)
| |
12 | g.76346338T>G | CA481011264 | BBS10 | c.1647A>C (p.Ser549=)
| |
12 | g.76346339G>A | CA385810682 | BBS10 | c.1646C>T (p.Ser549Leu)
| gnomAD v4 |
12 | g.76346339G>C | CA385810684 | BBS10 | c.1646C>G (p.Ser549Ter)
| |
12 | g.76346339G>T | CA385810685 | BBS10 | c.1646C>A (p.Ser549Ter)
| |
12 | g.76346340A>C | CA385810688 | BBS10 | c.1645T>G (p.Ser549Ala)
| gnomAD v4 |
12 | g.76346340A>G | CA385810687 | BBS10 | c.1645T>C (p.Ser549Pro)
| |
12 | g.76346340A>T | CA385810686 | BBS10 | c.1645T>A (p.Ser549Thr)
| |
12 | g.76346341A= | CA2047353262 | BBS10 | c.1644T= (p.Tyr548=)
| |
12 | g.76346341A>C | CA385810689 | BBS10 | c.1644T>G (p.Tyr548Ter)
| |
12 | g.76346341A>G | CA6694130 | BBS10 | c.1644T>C (p.Tyr548=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346341A>T | CA385810690 | BBS10 | c.1644T>A (p.Tyr548Ter)
| |
12 | g.76346342T>A | CA385810691 | BBS10 | c.1643A>T (p.Tyr548Phe)
| gnomAD v4 |
12 | g.76346342T>C | CA385810692 | BBS10 | c.1643A>G (p.Tyr548Cys)
| gnomAD v4 |
12 | g.76346342T>G | CA385810694 | BBS10 | c.1643A>C (p.Tyr548Ser)
| |
12 | g.76346343A>C | CA385810695 | BBS10 | c.1642T>G (p.Tyr548Asp)
| |
12 | g.76346343A>G | CA385810696 | BBS10 | c.1642T>C (p.Tyr548His)
| |
12 | g.76346343A>T | CA385810698 | BBS10 | c.1642T>A (p.Tyr548Asn)
| |
12 | g.76346344A>C | CA481011270 | BBS10 | c.1641T>G (p.Ala547=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346344A>G | CA481011271 | BBS10 | c.1641T>C (p.Ala547=)
| |
12 | g.76346344A>T | CA481011272 | BBS10 | c.1641T>A (p.Ala547=)
| ClinVar |
12 | g.76346345G>A | CA385810700 | BBS10 | c.1640C>T (p.Ala547Val)
| |
12 | g.76346345G>C | CA385810702 | BBS10 | c.1640C>G (p.Ala547Gly)
| |
12 | g.76346345G= | CA2047353263 | BBS10 | c.1640C= (p.Ala547=)
| |
12 | g.76346345G>T | CA6694131 | BBS10 | c.1640C>A (p.Ala547Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346346C>A | CA385810707 | BBS10 | c.1639G>T (p.Ala547Ser)
| |
12 | g.76346346C= | CA2047353264 | BBS10 | c.1639G= (p.Ala547=)
| |
12 | g.76346346C>G | CA385810706 | BBS10 | c.1639G>C (p.Ala547Pro)
| |
12 | g.76346346C>T | CA6694132 | BBS10 | c.1639G>A (p.Ala547Thr)
| dbSNP ExAC gnomAD v2 |
12 | g.76346347A>C | CA481011279 | BBS10 | c.1638T>G (p.Thr546=)
| |
12 | g.76346347A>G | CA481011280 | BBS10 | c.1638T>C (p.Thr546=)
| |
12 | g.76346347A>T | CA481011281 | BBS10 | c.1638T>A (p.Thr546=)
| |
12 | g.76346348G>A | CA385810708 | BBS10 | c.1637C>T (p.Thr546Ile)
| |
12 | g.76346348G>C | CA385810712 | BBS10 | c.1637C>G (p.Thr546Ser)
| |
12 | g.76346348G>T | CA385810710 | BBS10 | c.1637C>A (p.Thr546Asn)
| |
12 | g.76346349T>A | CA385810713 | BBS10 | c.1636A>T (p.Thr546Ser)
| |
12 | g.76346349T>C | CA385810715 | BBS10 | c.1636A>G (p.Thr546Ala)
| gnomAD v4 |
12 | g.76346349T>G | CA385810716 | BBS10 | c.1636A>C (p.Thr546Pro)
| |
12 | g.76346350G>A | CA481011283 | BBS10 | c.1635C>T (p.Ser545=)
| |
12 | g.76346350G>C | CA481011284 | BBS10 | c.1635C>G (p.Ser545=)
| |
12 | g.76346350G>T | CA481011286 | BBS10 | c.1635C>A (p.Ser545=)
| |
12 | g.76346351G>A | CA385810718 | BBS10 | c.1634C>T (p.Ser545Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.76346351G>C | CA385810719 | BBS10 | c.1634C>G (p.Ser545Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346351G= | CA2047353265 | BBS10 | c.1634C= (p.Ser545=)
| |
12 | g.76346351G>T | CA385810720 | BBS10 | c.1634C>A (p.Ser545Tyr)
| |
12 | g.76346352A= | CA2047353266 | BBS10 | c.1633T= (p.Ser545=)
| |
12 | g.76346352A>C | CA385810721 | BBS10 | c.1633T>G (p.Ser545Ala)
| |
12 | g.76346352A>G | CA385810722 | BBS10 | c.1633T>C (p.Ser545Pro)
| |
12 | g.76346352A>T | CA6694133 | BBS10 | c.1633T>A (p.Ser545Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346353A>C | CA385810724 | BBS10 | c.1632T>G (p.Asn544Lys)
| |
12 | g.76346353A>G | CA481010590 | BBS10 | c.1632T>C (p.Asn544=)
| |
12 | g.76346353A>T | CA385810726 | BBS10 | c.1632T>A (p.Asn544Lys)
| |
12 | g.76346354T>A | CA385810731 | BBS10 | c.1631A>T (p.Asn544Ile)
| |
12 | g.76346354T>C | CA179766 | BBS10 | c.1631A>G (p.Asn544Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346354T>G | CA385810728 | BBS10 | c.1631A>C (p.Asn544Thr)
| |
12 | g.76346354T= | CA2047353267 | BBS10 | c.1631A= (p.Asn544=)
| |
12 | g.76346355T>A | CA385810733 | BBS10 | c.1630A>T (p.Asn544Tyr)
| |
12 | g.76346355T>C | CA385810735 | BBS10 | c.1630A>G (p.Asn544Asp)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346355T>G | CA385810737 | BBS10 | c.1630A>C (p.Asn544His)
| |
12 | g.76346355T= | CA2047353268 | BBS10 | c.1630A= (p.Asn544=)
| |
12 | g.76346356G>A | CA6694134 | BBS10 | c.1629C>T (p.Asn543=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346356G>C | CA385810740 | BBS10 | c.1629C>G (p.Asn543Lys)
| |
12 | g.76346356G= | CA2047353270 | BBS10 | c.1629C= (p.Asn543=)
| |
12 | g.76346356G>T | CA385810741 | BBS10 | c.1629C>A (p.Asn543Lys)
| |
12 | g.76346356_76346359delinsGTTC | CA2047353269 | BBS10 | c.1626_1629delinsGAAC (p.Lys542=)
| |