12 | g.76345834T>A | CA385808189 | BBS10 | c.2151A>T (p.Gln717His)
| |
12 | g.76345834T>C | CA481010603 | BBS10 | c.2151A>G (p.Gln717=)
| |
12 | g.76345834T>G | CA385808190 | BBS10 | c.2151A>C (p.Gln717His)
| gnomAD v4 |
12 | g.76345835T>A | CA385808191 | BBS10 | c.2150A>T (p.Gln717Leu)
| |
12 | g.76345835T>C | CA385808192 | BBS10 | c.2150A>G (p.Gln717Arg)
| |
12 | g.76345835T>G | CA385808193 | BBS10 | c.2150A>C (p.Gln717Pro)
| |
12 | g.76345836del | CA645577109 | BBS10 | c.2149del (p.Gln717LysfsTer13)
| COSMIC |
12 | g.76345836G>A | CA385808194 | BBS10 | c.2149C>T (p.Gln717Ter)
| gnomAD v4 |
12 | g.76345836G>C | CA385808195 | BBS10 | c.2149C>G (p.Gln717Glu)
| |
12 | g.76345836G>T | CA385808196 | BBS10 | c.2149C>A (p.Gln717Lys)
| gnomAD v4 |
12 | g.76345837A>C | CA385808197 | BBS10 | c.2148T>G (p.Asn716Lys)
| |
12 | g.76345837A>G | CA481010604 | BBS10 | c.2148T>C (p.Asn716=)
| COSMIC |
12 | g.76345837A>T | CA385808198 | BBS10 | c.2148T>A (p.Asn716Lys)
| |
12 | g.76345838T>A | CA385808199 | BBS10 | c.2147A>T (p.Asn716Ile)
| dbSNP |
12 | g.76345838T>C | CA385808200 | BBS10 | c.2147A>G (p.Asn716Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345838T>G | CA385808201 | BBS10 | c.2147A>C (p.Asn716Thr)
| |
12 | g.76345838T= | CA2047353047 | BBS10 | c.2147A= (p.Asn716=)
| |
12 | g.76345839T>A | CA385808203 | BBS10 | c.2146A>T (p.Asn716Tyr)
| |
12 | g.76345839T>C | CA385808204 | BBS10 | c.2146A>G (p.Asn716Asp)
| |
12 | g.76345839T>G | CA385808202 | BBS10 | c.2146A>C (p.Asn716His)
| ClinVar dbSNP |
12 | g.76345839T= | CA2047353048 | BBS10 | c.2146A= (p.Asn716=)
| |
12 | g.76345840G>A | CA481010431 | BBS10 | c.2145C>T (p.His715=)
| |
12 | g.76345840G>C | CA385808206 | BBS10 | c.2145C>G (p.His715Gln)
| |
12 | g.76345840G>T | CA385808205 | BBS10 | c.2145C>A (p.His715Gln)
| |
12 | g.76345840_76345844delinsGTGAA | CA2047353049 | BBS10 | c.2141_2145delinsTTCAC (p.Val714=)
| |
12 | g.76345841T>A | CA385808208 | BBS10 | c.2144A>T (p.His715Leu)
| |
12 | g.76345841T>C | CA241800 | BBS10 | c.2144A>G (p.His715Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345841T>G | CA385808207 | BBS10 | c.2144A>C (p.His715Pro)
| ClinVar gnomAD v4 |
12 | g.76345841T= | CA2047353050 | BBS10 | c.2144A= (p.His715=)
| |
12 | g.76345841_76345844del | CA949387557 | BBS10 | c.2141_2144del (p.Val714AlafsTer15)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345842G>A | CA385808209 | BBS10 | c.2143C>T (p.His715Tyr)
| |
12 | g.76345842G>C | CA385808210 | BBS10 | c.2143C>G (p.His715Asp)
| |
12 | g.76345842G>T | CA385808211 | BBS10 | c.2143C>A (p.His715Asn)
| |
12 | g.76345843A= | CA2047353051 | BBS10 | c.2142T= (p.Val714=)
| |
12 | g.76345843A>C | CA481010440 | BBS10 | c.2142T>G (p.Val714=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345843A>G | CA481010441 | BBS10 | c.2142T>C (p.Val714=)
| |
12 | g.76345843A>T | CA481010442 | BBS10 | c.2142T>A (p.Val714=)
| |
12 | g.76345844A>C | CA385808212 | BBS10 | c.2141T>G (p.Val714Gly)
| |
12 | g.76345844A>G | CA385808213 | BBS10 | c.2141T>C (p.Val714Ala)
| |
12 | g.76345844A>T | CA385808214 | BBS10 | c.2141T>A (p.Val714Asp)
| |
12 | g.76345844_76345848delinsACTTT | CA2047353052 | BBS10 | c.2137_2141delinsAAAGT (p.Lys713=)
| |
12 | g.76345845C>A | CA385808215 | BBS10 | c.2140G>T (p.Val714Phe)
| |
12 | g.76345845C>G | CA385808216 | BBS10 | c.2140G>C (p.Val714Leu)
| |
12 | g.76345845C>T | CA385808217 | BBS10 | c.2140G>A (p.Val714Ile)
| dbSNP |
12 | g.76345847_76345850del | CA658797933 | BBS10 | c.2137_2140del (p.Lys713PhefsTer16)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345845_76345865delinsCTTTCTGAGGGTGTCTCTTAA | CA2047353053 | BBS10 | c.2120_2140delinsTTAAGAGACACCCTCAGAAAG (p.Val707=)
| |
12 | g.76345846T>A | CA385808218 | BBS10 | c.2139A>T (p.Lys713Asn)
| |
12 | g.76345846T>C | CA481010451 | BBS10 | c.2139A>G (p.Lys713=)
| ClinVar dbSNP |
12 | g.76345846T>G | CA385808219 | BBS10 | c.2139A>C (p.Lys713Asn)
| |
12 | g.76345846_76345865del | CA949387572 | BBS10 | c.2120_2139del (p.Val707GlyfsTer9)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345847T>A | CA385808222 | BBS10 | c.2138A>T (p.Lys713Ile)
| |
12 | g.76345847T>C | CA385808220 | BBS10 | c.2138A>G (p.Lys713Arg)
| gnomAD v4 |
12 | g.76345847T>G | CA385808221 | BBS10 | c.2138A>C (p.Lys713Thr)
| |
12 | g.76345848T>A | CA385808223 | BBS10 | c.2137A>T (p.Lys713Ter)
| gnomAD v4 |
12 | g.76345848T>C | CA385808224 | BBS10 | c.2137A>G (p.Lys713Glu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345848T>G | CA385808225 | BBS10 | c.2137A>C (p.Lys713Gln)
| |
12 | g.76345848T= | CA2047353054 | BBS10 | c.2137A= (p.Lys713=)
| |
12 | g.76345849_76345850del | CA1139770137 | BBS10 | c.2136_2137del (p.Lys713SerfsTer9)
| gnomAD v4 |
12 | g.76345849C>A | CA385808226 | BBS10 | c.2136G>T (p.Gln712His)
| |
12 | g.76345849C>G | CA385808227 | BBS10 | c.2136G>C (p.Gln712His)
| |
12 | g.76345849C>T | CA481010461 | BBS10 | c.2136G>A (p.Gln712=)
| |
12 | g.76345850T>A | CA385808228 | BBS10 | c.2135A>T (p.Gln712Leu)
| |
12 | g.76345850T>C | CA385808229 | BBS10 | c.2135A>G (p.Gln712Arg)
| |
12 | g.76345850T>G | CA385808230 | BBS10 | c.2135A>C (p.Gln712Pro)
| |
12 | g.76345851G>A | CA385808231 | BBS10 | c.2134C>T (p.Gln712Ter)
| |
12 | g.76345851G>C | CA385808232 | BBS10 | c.2134C>G (p.Gln712Glu)
| |
12 | g.76345851G>T | CA385808233 | BBS10 | c.2134C>A (p.Gln712Lys)
| |
12 | g.76345852A>C | CA481010465 | BBS10 | c.2133T>G (p.Pro711=)
| |
12 | g.76345852A>G | CA481010467 | BBS10 | c.2133T>C (p.Pro711=)
| |
12 | g.76345852A>T | CA481010469 | BBS10 | c.2133T>A (p.Pro711=)
| |
12 | g.76345853G>A | CA6694046 | BBS10 | c.2132C>T (p.Pro711Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345853G>C | CA385808235 | BBS10 | c.2132C>G (p.Pro711Arg)
| |
12 | g.76345853G= | CA2047353055 | BBS10 | c.2132C= (p.Pro711=)
| |
12 | g.76345853G>T | CA385808234 | BBS10 | c.2132C>A (p.Pro711His)
| |
12 | g.76345854G>A | CA385808236 | BBS10 | c.2131C>T (p.Pro711Ser)
| gnomAD v4 |
12 | g.76345854G>C | CA385808237 | BBS10 | c.2131C>G (p.Pro711Ala)
| |
12 | g.76345854G>T | CA385808238 | BBS10 | c.2131C>A (p.Pro711Thr)
| |
12 | g.76345855G>A | CA481010477 | BBS10 | c.2130C>T (p.His710=)
| ClinVar |
12 | g.76345855G>C | CA385808239 | BBS10 | c.2130C>G (p.His710Gln)
| |
12 | g.76345855G>T | CA385808240 | BBS10 | c.2130C>A (p.His710Gln)
| |
12 | g.76345856T>A | CA385808243 | BBS10 | c.2129A>T (p.His710Leu)
| |
12 | g.76345856T>C | CA385808242 | BBS10 | c.2129A>G (p.His710Arg)
| |
12 | g.76345856T>G | CA385808241 | BBS10 | c.2129A>C (p.His710Pro)
| |
12 | g.76345857G>A | CA385808244 | BBS10 | c.2128C>T (p.His710Tyr)
| |
12 | g.76345857G>C | CA385808245 | BBS10 | c.2128C>G (p.His710Asp)
| |
12 | g.76345857G>T | CA385808246 | BBS10 | c.2128C>A (p.His710Asn)
| gnomAD v4 |
12 | g.76345857_76345859delinsGTC | CA2047353056 | BBS10 | c.2126_2128delinsGAC (p.Arg709=)
| |
12 | g.76345858T>A | CA385808247 | BBS10 | c.2127A>T (p.Arg709Ser)
| |
12 | g.76345858T>C | CA481010483 | BBS10 | c.2127A>G (p.Arg709=)
| |
12 | g.76345858T>G | CA385808248 | BBS10 | c.2127A>C (p.Arg709Ser)
| |
12 | g.76345858_76345859delinsTC | CA2047353057 | BBS10 | c.2126_2127delinsGA (p.Arg709=)
| |
12 | g.76345858_76345862delinsTCTCT | CA2047353058 | BBS10 | c.2123_2127delinsAGAGA (p.Lys708=)
| |
12 | g.76345861_76345862del | CA6694047 | BBS10 | c.2126_2127del (p.Arg709ThrfsTer13)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345859del | CA606185887 | BBS10 | c.2126del (p.Arg709AsnfsTer21)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345859C>A | CA385808249 | BBS10 | c.2126G>T (p.Arg709Ile)
| |
12 | g.76345859C= | CA2047353059 | BBS10 | c.2126G= (p.Arg709=)
| |
12 | g.76345859C>G | CA385808251 | BBS10 | c.2126G>C (p.Arg709Thr)
| dbSNP |
12 | g.76345859C>T | CA385808250 | BBS10 | c.2126G>A (p.Arg709Lys)
| |
12 | g.76345859_76345862delinsTCC | CA658797934 | BBS10 | c.2123_2126delinsGGA (p.Lys708ArgfsTer22)
| ClinVar dbSNP |
12 | g.76345860T>A | CA385808252 | BBS10 | c.2125A>T (p.Arg709Ter)
| |
12 | g.76345860T>C | CA385808253 | BBS10 | c.2125A>G (p.Arg709Gly)
| |
12 | g.76345860T>G | CA481010494 | BBS10 | c.2125A>C (p.Arg709=)
| |
12 | g.76345861C>A | CA385808254 | BBS10 | c.2124G>T (p.Lys708Asn)
| |
12 | g.76345861C>G | CA385808255 | BBS10 | c.2124G>C (p.Lys708Asn)
| |
12 | g.76345861C>T | CA481010498 | BBS10 | c.2124G>A (p.Lys708=)
| |
12 | g.76345861_76345863delinsCTT | CA2047353060 | BBS10 | c.2122_2124delinsAAG (p.Lys708=)
| |
12 | g.76345862T>A | CA385808256 | BBS10 | c.2123A>T (p.Lys708Met)
| |
12 | g.76345862T>C | CA385808257 | BBS10 | c.2123A>G (p.Lys708Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345862T>G | CA385808258 | BBS10 | c.2123A>C (p.Lys708Thr)
| |
12 | g.76345862T= | CA2047353062 | BBS10 | c.2123A= (p.Lys708=)
| |
12 | g.76345862_76345863del | CA2047353061 | BBS10 | c.2122_2123del (p.Lys708GlufsTer14)
| ClinVar dbSNP gnomAD v4 |
12 | g.76345863T>A | CA385808259 | BBS10 | c.2122A>T (p.Lys708Ter)
| |
12 | g.76345863T>C | CA385808260 | BBS10 | c.2122A>G (p.Lys708Glu)
| |
12 | g.76345863T>G | CA385808261 | BBS10 | c.2122A>C (p.Lys708Gln)
| |
12 | g.76345864A>C | CA481010506 | BBS10 | c.2121T>G (p.Val707=)
| |
12 | g.76345864A>G | CA481010507 | BBS10 | c.2121T>C (p.Val707=)
| |
12 | g.76345864A>T | CA481010508 | BBS10 | c.2121T>A (p.Val707=)
| |
12 | g.76345864_76345866delinsAAC | CA2047353063 | BBS10 | c.2119_2121delinsGTT (p.Val707=)
| |
12 | g.76345865A>C | CA385808263 | BBS10 | c.2120T>G (p.Val707Gly)
| |
12 | g.76345865A>G | CA385808264 | BBS10 | c.2120T>C (p.Val707Ala)
| |
12 | g.76345865A>T | CA385808262 | BBS10 | c.2120T>A (p.Val707Asp)
| |
12 | g.76345866_76345867dup | CA2047353064 | BBS10 | c.2119_2120dup (p.Lys708LeufsTer23)
| dbSNP |
12 | g.76345866_76345867del | CA6694048 | BBS10 | c.2119_2120del (p.Val707Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345866C>A | CA385808267 | BBS10 | c.2119G>T (p.Val707Phe)
| |
12 | g.76345866C>G | CA385808265 | BBS10 | c.2119G>C (p.Val707Leu)
| |
12 | g.76345866C>T | CA385808266 | BBS10 | c.2119G>A (p.Val707Ile)
| |
12 | g.76345867A= | CA2047353065 | BBS10 | c.2118T= (p.Thr706=)
| |
12 | g.76345867A>C | CA481010515 | BBS10 | c.2118T>G (p.Thr706=)
| |
12 | g.76345867A>G | CA481010516 | BBS10 | c.2118T>C (p.Thr706=)
| |
12 | g.76345867A>T | CA481010517 | BBS10 | c.2118T>A (p.Thr706=)
| |
12 | g.76345867_76345868insT | CA949387593 | BBS10 | c.2117_2118insA (p.Val707CysfsTer2)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345868G>A | CA385808268 | BBS10 | c.2117C>T (p.Thr706Ile)
| |
12 | g.76345868G>C | CA385808269 | BBS10 | c.2117C>G (p.Thr706Ser)
| |
12 | g.76345868G>T | CA385808270 | BBS10 | c.2117C>A (p.Thr706Asn)
| |
12 | g.76345869T>A | CA385808271 | BBS10 | c.2116A>T (p.Thr706Ser)
| |
12 | g.76345869T>C | CA385808272 | BBS10 | c.2116A>G (p.Thr706Ala)
| |
12 | g.76345869T>G | CA385808273 | BBS10 | c.2116A>C (p.Thr706Pro)
| |
12 | g.76345870G>A | CA481010521 | BBS10 | c.2115C>T (p.Ile705=)
| |
12 | g.76345870G>C | CA385808274 | BBS10 | c.2115C>G (p.Ile705Met)
| |
12 | g.76345870G>T | CA481010519 | BBS10 | c.2115C>A (p.Ile705=)
| |
12 | g.76345871A= | CA2047353066 | BBS10 | c.2114T= (p.Ile705=)
| |
12 | g.76345871A>C | CA385808275 | BBS10 | c.2114T>G (p.Ile705Ser)
| |
12 | g.76345871A>G | CA239331423 | BBS10 | c.2114T>C (p.Ile705Thr)
| dbSNP |
12 | g.76345871A>T | CA385808276 | BBS10 | c.2114T>A (p.Ile705Asn)
| |
12 | g.76345872T>A | CA385808279 | BBS10 | c.2113A>T (p.Ile705Phe)
| |
12 | g.76345872T>C | CA385808277 | BBS10 | c.2113A>G (p.Ile705Val)
| |
12 | g.76345872T>G | CA385808278 | BBS10 | c.2113A>C (p.Ile705Leu)
| |
12 | g.76345873T>A | CA481010529 | BBS10 | c.2112A>T (p.Val704=)
| |
12 | g.76345873T>C | CA481010530 | BBS10 | c.2112A>G (p.Val704=)
| |
12 | g.76345873T>G | CA481010531 | BBS10 | c.2112A>C (p.Val704=)
| gnomAD v4 |
12 | g.76345874A>C | CA385808280 | BBS10 | c.2111T>G (p.Val704Gly)
| |
12 | g.76345874A>G | CA385808281 | BBS10 | c.2111T>C (p.Val704Ala)
| |
12 | g.76345874A>T | CA385808282 | BBS10 | c.2111T>A (p.Val704Glu)
| |
12 | g.76345875C>A | CA385808283 | BBS10 | c.2110G>T (p.Val704Leu)
| |
12 | g.76345875C>G | CA385808284 | BBS10 | c.2110G>C (p.Val704Leu)
| |
12 | g.76345875C>T | CA385808285 | BBS10 | c.2110G>A (p.Val704Ile)
| |
12 | g.76345876C>A | CA385808286 | BBS10 | c.2109G>T (p.Met703Ile)
| |
12 | g.76345876C>G | CA385808287 | BBS10 | c.2109G>C (p.Met703Ile)
| |
12 | g.76345876C>T | CA385808288 | BBS10 | c.2109G>A (p.Met703Ile)
| |
12 | g.76345877A>C | CA385808289 | BBS10 | c.2108T>G (p.Met703Arg)
| |
12 | g.76345877A>G | CA385808290 | BBS10 | c.2108T>C (p.Met703Thr)
| |
12 | g.76345877A>T | CA385808291 | BBS10 | c.2108T>A (p.Met703Lys)
| |
12 | g.76345878T>A | CA385808293 | BBS10 | c.2107A>T (p.Met703Leu)
| |
12 | g.76345878T>C | CA385808294 | BBS10 | c.2107A>G (p.Met703Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345878T>G | CA385808292 | BBS10 | c.2107A>C (p.Met703Leu)
| |
12 | g.76345878T= | CA2047353067 | BBS10 | c.2107A= (p.Met703=)
| |
12 | g.76345879G>A | CA481010539 | BBS10 | c.2106C>T (p.Asp702=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76345879G>C | CA385808295 | BBS10 | c.2106C>G (p.Asp702Glu)
| |
12 | g.76345879G= | CA2047353068 | BBS10 | c.2106C= (p.Asp702=)
| |
12 | g.76345879G>T | CA385808296 | BBS10 | c.2106C>A (p.Asp702Glu)
| |
12 | g.76345880T>A | CA385808297 | BBS10 | c.2105A>T (p.Asp702Val)
| |
12 | g.76345880T>C | CA385808298 | BBS10 | c.2105A>G (p.Asp702Gly)
| |
12 | g.76345880T>G | CA385808299 | BBS10 | c.2105A>C (p.Asp702Ala)
| |
12 | g.76345881C>A | CA385808300 | BBS10 | c.2104G>T (p.Asp702Tyr)
| |
12 | g.76345881C>G | CA385808301 | BBS10 | c.2104G>C (p.Asp702His)
| |
12 | g.76345881C>T | CA385808302 | BBS10 | c.2104G>A (p.Asp702Asn)
| gnomAD v4 |
12 | g.76345882A>C | CA385808303 | BBS10 | c.2103T>G (p.Ile701Met)
| |
12 | g.76345882A>G | CA481010554 | BBS10 | c.2103T>C (p.Ile701=)
| ClinVar dbSNP |
12 | g.76345882A>T | CA481010555 | BBS10 | c.2103T>A (p.Ile701=)
| |
12 | g.76345883A>C | CA385808304 | BBS10 | c.2102T>G (p.Ile701Ser)
| |
12 | g.76345883A>G | CA385808305 | BBS10 | c.2102T>C (p.Ile701Thr)
| gnomAD v4 |
12 | g.76345883A>T | CA385808306 | BBS10 | c.2102T>A (p.Ile701Asn)
| |
12 | g.76345884T>A | CA385808308 | BBS10 | c.2101A>T (p.Ile701Phe)
| |
12 | g.76345884T>C | CA385808309 | BBS10 | c.2101A>G (p.Ile701Val)
| |
12 | g.76345884T>G | CA385808307 | BBS10 | c.2101A>C (p.Ile701Leu)
| |
12 | g.76345885G>A | CA6694049 | BBS10 | c.2100C>T (p.Thr700=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345885G>C | CA481010570 | BBS10 | c.2100C>G (p.Thr700=)
| |
12 | g.76345885G= | CA2047353069 | BBS10 | c.2100C= (p.Thr700=)
| |
12 | g.76345885G>T | CA481010568 | BBS10 | c.2100C>A (p.Thr700=)
| |
12 | g.76345886G>A | CA385808310 | BBS10 | c.2099C>T (p.Thr700Ile)
| COSMIC |
12 | g.76345886G>C | CA385808311 | BBS10 | c.2099C>G (p.Thr700Ser)
| |
12 | g.76345886G>T | CA385808312 | BBS10 | c.2099C>A (p.Thr700Asn)
| gnomAD v4 |
12 | g.76345887T>A | CA385808313 | BBS10 | c.2098A>T (p.Thr700Ser)
| |
12 | g.76345887T>C | CA385808314 | BBS10 | c.2098A>G (p.Thr700Ala)
| gnomAD v4 |
12 | g.76345887T>G | CA385808315 | BBS10 | c.2098A>C (p.Thr700Pro)
| |
12 | g.76345888T>A | CA385808316 | BBS10 | c.2097A>T (p.Leu699Phe)
| |
12 | g.76345888T>C | CA481010579 | BBS10 | c.2097A>G (p.Leu699=)
| |
12 | g.76345888T>G | CA385808317 | BBS10 | c.2097A>C (p.Leu699Phe)
| |
12 | g.76345889A>C | CA385808318 | BBS10 | c.2096T>G (p.Leu699Ter)
| |
12 | g.76345889A>G | CA385808319 | BBS10 | c.2096T>C (p.Leu699Ser)
| |
12 | g.76345889A>T | CA385808320 | BBS10 | c.2096T>A (p.Leu699Ter)
| |
12 | g.76345890A= | CA2047353070 | BBS10 | c.2095T= (p.Leu699=)
| |
12 | g.76345890A>C | CA385808321 | BBS10 | c.2095T>G (p.Leu699Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345890A>G | CA481010591 | BBS10 | c.2095T>C (p.Leu699=)
| ClinVar gnomAD v4 |
12 | g.76345890A>T | CA385808322 | BBS10 | c.2095T>A (p.Leu699Ile)
| |
12 | g.76345891T>A | CA481010594 | BBS10 | c.2094A>T (p.Ile698=)
| |
12 | g.76345891T>C | CA6694050 | BBS10 | c.2094A>G (p.Ile698Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345891T>G | CA481010596 | BBS10 | c.2094A>C (p.Ile698=)
| |
12 | g.76345891T= | CA2047353071 | BBS10 | c.2094A= (p.Ile698=)
| |
12 | g.76345892A= | CA2047353072 | BBS10 | c.2093T= (p.Ile698=)
| |
12 | g.76345892A>C | CA385808325 | BBS10 | c.2093T>G (p.Ile698Arg)
| |
12 | g.76345892A>G | CA385808324 | BBS10 | c.2093T>C (p.Ile698Thr)
| |
12 | g.76345892A>T | CA385808323 | BBS10 | c.2093T>A (p.Ile698Lys)
| |
12 | g.76345893T>A | CA385808327 | BBS10 | c.2092A>T (p.Ile698Leu)
| |
12 | g.76345893T>C | CA385808326 | BBS10 | c.2092A>G (p.Ile698Val)
| |
12 | g.76345893T>G | CA385808328 | BBS10 | c.2092A>C (p.Ile698Leu)
| |
12 | g.76345897dup | CA2047353073 | BBS10 | c.2092dup (p.Ile698AsnfsTer5)
| dbSNP |
12 | g.76345894T>A | CA385808329 | BBS10 | c.2091A>T (p.Lys697Asn)
| dbSNP |
12 | g.76345894T>C | CA481010607 | BBS10 | c.2091A>G (p.Lys697=)
| |
12 | g.76345894T>G | CA385808330 | BBS10 | c.2091A>C (p.Lys697Asn)
| ClinVar dbSNP gnomAD v4 |
12 | g.76345894T= | CA2047353074 | BBS10 | c.2091A= (p.Lys697=)
| |
12 | g.76345895T>A | CA385808331 | BBS10 | c.2090A>T (p.Lys697Ile)
| |
12 | g.76345895T>C | CA385808332 | BBS10 | c.2090A>G (p.Lys697Arg)
| |
12 | g.76345895T>G | CA385808333 | BBS10 | c.2090A>C (p.Lys697Thr)
| |
12 | g.76345896T>A | CA385808334 | BBS10 | c.2089A>T (p.Lys697Ter)
| |
12 | g.76345896T>C | CA385808335 | BBS10 | c.2089A>G (p.Lys697Glu)
| |
12 | g.76345896T>G | CA385808336 | BBS10 | c.2089A>C (p.Lys697Gln)
| |
12 | g.76345897T>A | CA481010617 | BBS10 | c.2088A>T (p.Thr696=)
| |
12 | g.76345897T>C | CA481010619 | BBS10 | c.2088A>G (p.Thr696=)
| |
12 | g.76345897T>G | CA481010620 | BBS10 | c.2088A>C (p.Thr696=)
| |
12 | g.76345898G>A | CA385808337 | BBS10 | c.2087C>T (p.Thr696Ile)
| |
12 | g.76345898G>C | CA385808339 | BBS10 | c.2087C>G (p.Thr696Arg)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345898G= | CA2047353075 | BBS10 | c.2087C= (p.Thr696=)
| |
12 | g.76345898G>T | CA385808338 | BBS10 | c.2087C>A (p.Thr696Lys)
| COSMIC |
12 | g.76345899T>A | CA385808340 | BBS10 | c.2086A>T (p.Thr696Ser)
| |
12 | g.76345899T>C | CA385808341 | BBS10 | c.2086A>G (p.Thr696Ala)
| |
12 | g.76345899T>G | CA385808342 | BBS10 | c.2086A>C (p.Thr696Pro)
| |
12 | g.76345900C>A | CA385808343 | BBS10 | c.2085G>T (p.Leu695Phe)
| |
12 | g.76345900C>G | CA385808344 | BBS10 | c.2085G>C (p.Leu695Phe)
| |
12 | g.76345900C>T | CA481010640 | BBS10 | c.2085G>A (p.Leu695=)
| ClinVar dbSNP |
12 | g.76345901A>C | CA385808345 | BBS10 | c.2084T>G (p.Leu695Trp)
| |
12 | g.76345901A>G | CA385808347 | BBS10 | c.2084T>C (p.Leu695Ser)
| |
12 | g.76345901A>T | CA385808346 | BBS10 | c.2084T>A (p.Leu695Ter)
| |
12 | g.76345902A>C | CA385808348 | BBS10 | c.2083T>G (p.Leu695Val)
| |
12 | g.76345902A>G | CA481010649 | BBS10 | c.2083T>C (p.Leu695=)
| |
12 | g.76345902A>T | CA385808349 | BBS10 | c.2083T>A (p.Leu695Met)
| |
12 | g.76345903A>C | CA385808350 | BBS10 | c.2082T>G (p.Cys694Trp)
| |
12 | g.76345903A>G | CA481010656 | BBS10 | c.2082T>C (p.Cys694=)
| |
12 | g.76345903A>T | CA385808351 | BBS10 | c.2082T>A (p.Cys694Ter)
| |
12 | g.76345904C>A | CA385808352 | BBS10 | c.2081G>T (p.Cys694Phe)
| |
12 | g.76345904C= | CA2047353076 | BBS10 | c.2081G= (p.Cys694=)
| |
12 | g.76345904C>G | CA385808353 | BBS10 | c.2081G>C (p.Cys694Ser)
| |
12 | g.76345904C>T | CA6694051 | BBS10 | c.2081G>A (p.Cys694Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345905A= | CA2047353077 | BBS10 | c.2080T= (p.Cys694=)
| |
12 | g.76345905A>C | CA385808354 | BBS10 | c.2080T>G (p.Cys694Gly)
| gnomAD v4 |
12 | g.76345905A>G | CA385808355 | BBS10 | c.2080T>C (p.Cys694Arg)
| ClinVar dbSNP |
12 | g.76345905A>T | CA385808356 | BBS10 | c.2080T>A (p.Cys694Ser)
| |
12 | g.76345906C>A | CA385808357 | BBS10 | c.2079G>T (p.Gln693His)
| COSMIC |
12 | g.76345906C>G | CA385808358 | BBS10 | c.2079G>C (p.Gln693His)
| |
12 | g.76345906C>T | CA481010675 | BBS10 | c.2079G>A (p.Gln693=)
| |
12 | g.76345907T>A | CA385808359 | BBS10 | c.2078A>T (p.Gln693Leu)
| |
12 | g.76345907T>C | CA385808361 | BBS10 | c.2078A>G (p.Gln693Arg)
| |
12 | g.76345907T>G | CA385808360 | BBS10 | c.2078A>C (p.Gln693Pro)
| |
12 | g.76345908G>A | CA385808362 | BBS10 | c.2077C>T (p.Gln693Ter)
| ClinVar dbSNP |
12 | g.76345908G>C | CA385808363 | BBS10 | c.2077C>G (p.Gln693Glu)
| |
12 | g.76345908G= | CA2047353078 | BBS10 | c.2077C= (p.Gln693=)
| |
12 | g.76345908G>T | CA385808364 | BBS10 | c.2077C>A (p.Gln693Lys)
| |
12 | g.76345909A>C | CA481010688 | BBS10 | c.2076T>G (p.Leu692=)
| |
12 | g.76345909A>G | CA481010690 | BBS10 | c.2076T>C (p.Leu692=)
| |
12 | g.76345909A>T | CA481010691 | BBS10 | c.2076T>A (p.Leu692=)
| |
12 | g.76345910A>C | CA385808365 | BBS10 | c.2075T>G (p.Leu692Arg)
| |
12 | g.76345910A>G | CA385808366 | BBS10 | c.2075T>C (p.Leu692Pro)
| |
12 | g.76345910A>T | CA385808367 | BBS10 | c.2075T>A (p.Leu692His)
| |
12 | g.76345911G>A | CA385808368 | BBS10 | c.2074C>T (p.Leu692Phe)
| gnomAD v4 |
12 | g.76345911G>C | CA385808369 | BBS10 | c.2074C>G (p.Leu692Val)
| |
12 | g.76345911G>T | CA385808370 | BBS10 | c.2074C>A (p.Leu692Ile)
| |
12 | g.76345912A>C | CA481010695 | BBS10 | c.2073T>G (p.Val691=)
| |
12 | g.76345912A>G | CA481010696 | BBS10 | c.2073T>C (p.Val691=)
| |
12 | g.76345912A>T | CA481010697 | BBS10 | c.2073T>A (p.Val691=)
| |
12 | g.76345913A>C | CA385808371 | BBS10 | c.2072T>G (p.Val691Gly)
| |
12 | g.76345913A>G | CA385808372 | BBS10 | c.2072T>C (p.Val691Ala)
| |
12 | g.76345913A>T | CA385808373 | BBS10 | c.2072T>A (p.Val691Asp)
| |
12 | g.76345914C>A | CA385808375 | BBS10 | c.2071G>T (p.Val691Phe)
| |
12 | g.76345914C>G | CA385808376 | BBS10 | c.2071G>C (p.Val691Leu)
| |
12 | g.76345914C>T | CA385808374 | BBS10 | c.2071G>A (p.Val691Ile)
| |
12 | g.76345915T>A | CA481010705 | BBS10 | c.2070A>T (p.Ser690=)
| ClinVar |
12 | g.76345915T>C | CA239331434 | BBS10 | c.2070A>G (p.Ser690=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345915T>G | CA481010707 | BBS10 | c.2070A>C (p.Ser690=)
| |
12 | g.76345915T= | CA2047353079 | BBS10 | c.2070A= (p.Ser690=)
| |
12 | g.76345916G>A | CA385808377 | BBS10 | c.2069C>T (p.Ser690Leu)
| gnomAD v4 |
12 | g.76345916G>C | CA385808378 | BBS10 | c.2069C>G (p.Ser690Ter)
| |
12 | g.76345916G= | CA2047353080 | BBS10 | c.2069C= (p.Ser690=)
| |
12 | g.76345916G>T | CA385808379 | BBS10 | c.2069C>A (p.Ser690Ter)
| dbSNP |
12 | g.76345917A= | CA2047353081 | BBS10 | c.2068T= (p.Ser690=)
| |
12 | g.76345917A>C | CA385808382 | BBS10 | c.2068T>G (p.Ser690Ala)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345917A>G | CA385808381 | BBS10 | c.2068T>C (p.Ser690Pro)
| |
12 | g.76345917A>T | CA385808380 | BBS10 | c.2068T>A (p.Ser690Thr)
| dbSNP |
12 | g.76345918A= | CA2047353082 | BBS10 | c.2067T= (p.Thr689=)
| |
12 | g.76345918A>C | CA481010715 | BBS10 | c.2067T>G (p.Thr689=)
| |
12 | g.76345918A>G | CA481010717 | BBS10 | c.2067T>C (p.Thr689=)
| |
12 | g.76345918A>T | CA239331437 | BBS10 | c.2067T>A (p.Thr689=)
| dbSNP |
12 | g.76345919G>A | CA385808383 | BBS10 | c.2066C>T (p.Thr689Ile)
| |
12 | g.76345919G>C | CA385808384 | BBS10 | c.2066C>G (p.Thr689Ser)
| |
12 | g.76345919G>T | CA385808385 | BBS10 | c.2066C>A (p.Thr689Asn)
| |
12 | g.76345920T>A | CA385808386 | BBS10 | c.2065A>T (p.Thr689Ser)
| |
12 | g.76345920T>C | CA385808387 | BBS10 | c.2065A>G (p.Thr689Ala)
| |
12 | g.76345920T>G | CA6694052 | BBS10 | c.2065A>C (p.Thr689Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345920T= | CA2047353083 | BBS10 | c.2065A= (p.Thr689=)
| |
12 | g.76345921T>A | CA481010726 | BBS10 | c.2064A>T (p.Leu688=)
| |
12 | g.76345921T>C | CA481010728 | BBS10 | c.2064A>G (p.Leu688=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345921T>G | CA481010729 | BBS10 | c.2064A>C (p.Leu688=)
| |
12 | g.76345921T= | CA2047353084 | BBS10 | c.2064A= (p.Leu688=)
| |
12 | g.76345922A>C | CA385808388 | BBS10 | c.2063T>G (p.Leu688Arg)
| |
12 | g.76345922A>G | CA385808390 | BBS10 | c.2063T>C (p.Leu688Pro)
| |
12 | g.76345922A>T | CA385808389 | BBS10 | c.2063T>A (p.Leu688Gln)
| |
12 | g.76345923G>A | CA481010735 | BBS10 | c.2062C>T (p.Leu688=)
| ClinVar gnomAD v4 |
12 | g.76345923G>C | CA385808391 | BBS10 | c.2062C>G (p.Leu688Val)
| |
12 | g.76345923G= | CA2047353085 | BBS10 | c.2062C= (p.Leu688=)
| |
12 | g.76345923G>T | CA6694053 | BBS10 | c.2062C>A (p.Leu688Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345924T>A | CA481010736 | BBS10 | c.2061A>T (p.Leu687=)
| |
12 | g.76345924T>C | CA481010737 | BBS10 | c.2061A>G (p.Leu687=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345924T>G | CA481010738 | BBS10 | c.2061A>C (p.Leu687=)
| |
12 | g.76345924T= | CA2047353086 | BBS10 | c.2061A= (p.Leu687=)
| |
12 | g.76345925A>C | CA385808392 | BBS10 | c.2060T>G (p.Leu687Arg)
| |
12 | g.76345925A>G | CA385808393 | BBS10 | c.2060T>C (p.Leu687Pro)
| |
12 | g.76345925A>T | CA385808394 | BBS10 | c.2060T>A (p.Leu687Gln)
| |
12 | g.76345926G>A | CA239331446 | BBS10 | c.2059C>T (p.Leu687=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76345926G>C | CA385808395 | BBS10 | c.2059C>G (p.Leu687Val)
| |
12 | g.76345926G= | CA2047353087 | BBS10 | c.2059C= (p.Leu687=)
| |
12 | g.76345926G>T | CA385808396 | BBS10 | c.2059C>A (p.Leu687Ile)
| |
12 | g.76345927C>A | CA385808399 | BBS10 | c.2058G>T (p.Gln686His)
| |
12 | g.76345927C>G | CA385808398 | BBS10 | c.2058G>C (p.Gln686His)
| |
12 | g.76345927C>T | CA481010752 | BBS10 | c.2058G>A (p.Gln686=)
| |
12 | g.76345928T>A | CA385808400 | BBS10 | c.2057A>T (p.Gln686Leu)
| |
12 | g.76345928T>C | CA385808401 | BBS10 | c.2057A>G (p.Gln686Arg)
| ClinVar |
12 | g.76345928T>G | CA385808402 | BBS10 | c.2057A>C (p.Gln686Pro)
| |
12 | g.76345929G>A | CA385808403 | BBS10 | c.2056C>T (p.Gln686Ter)
| |
12 | g.76345929G>C | CA385808404 | BBS10 | c.2056C>G (p.Gln686Glu)
| |
12 | g.76345929G>T | CA385808405 | BBS10 | c.2056C>A (p.Gln686Lys)
| |
12 | g.76345930G>A | CA6694054 | BBS10 | c.2055C>T (p.Tyr685=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345930G>C | CA385808407 | BBS10 | c.2055C>G (p.Tyr685Ter)
| |
12 | g.76345930G= | CA2047353088 | BBS10 | c.2055C= (p.Tyr685=)
| |
12 | g.76345930G>T | CA385808406 | BBS10 | c.2055C>A (p.Tyr685Ter)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345931T>A | CA385808408 | BBS10 | c.2054A>T (p.Tyr685Phe)
| |
12 | g.76345931T>C | CA385808409 | BBS10 | c.2054A>G (p.Tyr685Cys)
| gnomAD v4 |
12 | g.76345931T>G | CA385808410 | BBS10 | c.2054A>C (p.Tyr685Ser)
| |
12 | g.76345932A>C | CA385808411 | BBS10 | c.2053T>G (p.Tyr685Asp)
| |
12 | g.76345932A>G | CA385808412 | BBS10 | c.2053T>C (p.Tyr685His)
| |
12 | g.76345932A>T | CA385808413 | BBS10 | c.2053T>A (p.Tyr685Asn)
| |
12 | g.76345932_76345933delinsAT | CA2047353089 | BBS10 | c.2052_2053delinsAT (p.Lys684=)
| |
12 | g.76345933T>A | CA385808414 | BBS10 | c.2052A>T (p.Lys684Asn)
| |
12 | g.76345933T>C | CA481010769 | BBS10 | c.2052A>G (p.Lys684=)
| |
12 | g.76345933T>G | CA385808415 | BBS10 | c.2052A>C (p.Lys684Asn)
| |
12 | g.76345935del | CA1139662786 | BBS10 | c.2052del (p.Lys684AsnfsTer5)
| ClinVar dbSNP gnomAD v4 |
12 | g.76345934T>A | CA385808416 | BBS10 | c.2051A>T (p.Lys684Ile)
| |
12 | g.76345934T>C | CA385808417 | BBS10 | c.2051A>G (p.Lys684Arg)
| |
12 | g.76345934T>G | CA385808418 | BBS10 | c.2051A>C (p.Lys684Thr)
| gnomAD v4 |