12 | g.76346960_76346961delinsAT | CA2047353565 | BBS10 | c.1024_1025delinsAT (p.Ile342=)
| |
12 | g.76346960_76346975del | CA645577111 | BBS10 | c.1010_1025del (p.Glu337AlafsTer27)
| COSMIC |
12 | g.76346961del | CA6694245 | BBS10 | c.1024del (p.Ile342SerfsTer27)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346961T>A | CA385813103 | BBS10 | c.1024A>T (p.Ile342Phe)
| gnomAD v4 |
12 | g.76346961T>C | CA385813105 | BBS10 | c.1024A>G (p.Ile342Val)
| |
12 | g.76346961T>G | CA385813107 | BBS10 | c.1024A>C (p.Ile342Leu)
| |
12 | g.76346961dup | CA356961 | BBS10 | c.1024dup (p.Ile342AsnfsTer20)
| ClinVar dbSNP |
12 | g.76346962A>C | CA481011442 | BBS10 | c.1023T>G (p.Leu341=)
| |
12 | g.76346962A>G | CA481011443 | BBS10 | c.1023T>C (p.Leu341=)
| |
12 | g.76346962A>T | CA481011444 | BBS10 | c.1023T>A (p.Leu341=)
| |
12 | g.76346963A>C | CA385813111 | BBS10 | c.1022T>G (p.Leu341Arg)
| |
12 | g.76346963A>G | CA385813114 | BBS10 | c.1022T>C (p.Leu341Pro)
| |
12 | g.76346963A>T | CA385813112 | BBS10 | c.1022T>A (p.Leu341His)
| |
12 | g.76346964G>A | CA385813115 | BBS10 | c.1021C>T (p.Leu341Phe)
| gnomAD v4 |
12 | g.76346964G>C | CA385813117 | BBS10 | c.1021C>G (p.Leu341Val)
| |
12 | g.76346964G>T | CA385813119 | BBS10 | c.1021C>A (p.Leu341Ile)
| |
12 | g.76346965A>C | CA481011446 | BBS10 | c.1020T>G (p.Ser340=)
| |
12 | g.76346965A>G | CA481011447 | BBS10 | c.1020T>C (p.Ser340=)
| |
12 | g.76346965A>T | CA481011448 | BBS10 | c.1020T>A (p.Ser340=)
| |
12 | g.76346966G>A | CA385813121 | BBS10 | c.1019C>T (p.Ser340Phe)
| |
12 | g.76346966G>C | CA385813123 | BBS10 | c.1019C>G (p.Ser340Cys)
| gnomAD v4 |
12 | g.76346966G>T | CA385813125 | BBS10 | c.1019C>A (p.Ser340Tyr)
| |
12 | g.76346967A>C | CA385813127 | BBS10 | c.1018T>G (p.Ser340Ala)
| |
12 | g.76346967A>G | CA385813129 | BBS10 | c.1018T>C (p.Ser340Pro)
| |
12 | g.76346967A>T | CA385813131 | BBS10 | c.1018T>A (p.Ser340Thr)
| |
12 | g.76346968A>C | CA481011452 | BBS10 | c.1017T>G (p.Val339=)
| |
12 | g.76346968A>G | CA481011453 | BBS10 | c.1017T>C (p.Val339=)
| |
12 | g.76346968A>T | CA481011454 | BBS10 | c.1017T>A (p.Val339=)
| |
12 | g.76346969A= | CA2047353567 | BBS10 | c.1016T= (p.Val339=)
| |
12 | g.76346969A>C | CA385813136 | BBS10 | c.1016T>G (p.Val339Gly)
| |
12 | g.76346969A>G | CA385813137 | BBS10 | c.1016T>C (p.Val339Ala)
| |
12 | g.76346969A>T | CA385813134 | BBS10 | c.1016T>A (p.Val339Asp)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346969_76346972delinsACTT | CA2047353566 | BBS10 | c.1013_1016delinsAAGT (p.Glu338=)
| |
12 | g.76346970C>A | CA385813139 | BBS10 | c.1015G>T (p.Val339Phe)
| |
12 | g.76346970C>G | CA385813141 | BBS10 | c.1015G>C (p.Val339Leu)
| |
12 | g.76346970C>T | CA385813143 | BBS10 | c.1015G>A (p.Val339Ile)
| |
12 | g.76346975_76346977del | CA6694246 | BBS10 | c.1013_1015del (p.Glu338del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.76346971T>A | CA385813147 | BBS10 | c.1014A>T (p.Glu338Asp)
| |
12 | g.76346971T>C | CA481011455 | BBS10 | c.1014A>G (p.Glu338=)
| ClinVar dbSNP |
12 | g.76346971T>G | CA385813149 | BBS10 | c.1014A>C (p.Glu338Asp)
| |
12 | g.76346971_76346973delinsTTC | CA2047353568 | BBS10 | c.1012_1014delinsGAA (p.Glu338=)
| |
12 | g.76346972T>A | CA385813151 | BBS10 | c.1013A>T (p.Glu338Val)
| |
12 | g.76346972T>C | CA385813152 | BBS10 | c.1013A>G (p.Glu338Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346972T>G | CA385813154 | BBS10 | c.1013A>C (p.Glu338Ala)
| |
12 | g.76346972T= | CA2047353569 | BBS10 | c.1013A= (p.Glu338=)
| |
12 | g.76346973_76346974del | CA16041583 | BBS10 | c.1012_1013del (p.Glu338SerfsTer23)
| ClinVar dbSNP |
12 | g.76346973C>A | CA385813156 | BBS10 | c.1012G>T (p.Glu338Ter)
| |
12 | g.76346973C= | CA2047353570 | BBS10 | c.1012G= (p.Glu338=)
| |
12 | g.76346973C>G | CA385813158 | BBS10 | c.1012G>C (p.Glu338Gln)
| |
12 | g.76346973C>T | CA6694247 | BBS10 | c.1012G>A (p.Glu338Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346974T>A | CA385813161 | BBS10 | c.1011A>T (p.Glu337Asp)
| |
12 | g.76346974T>C | CA481011459 | BBS10 | c.1011A>G (p.Glu337=)
| |
12 | g.76346974T>G | CA385813163 | BBS10 | c.1011A>C (p.Glu337Asp)
| dbSNP |
12 | g.76346974T= | CA2047353571 | BBS10 | c.1011A= (p.Glu337=)
| |
12 | g.76346975T>A | CA385813166 | BBS10 | c.1010A>T (p.Glu337Val)
| |
12 | g.76346975T>C | CA6694248 | BBS10 | c.1010A>G (p.Glu337Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346975T>G | CA6694249 | BBS10 | c.1010A>C (p.Glu337Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346975T= | CA2047353572 | BBS10 | c.1010A= (p.Glu337=)
| |
12 | g.76346975_76346976delinsGA | CA2580086684 | BBS10 | c.1009_1010delinsTC (p.Glu337Ser)
| ClinVar |
12 | g.76346976C>A | CA6694250 | BBS10 | c.1009G>T (p.Glu337Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346976C= | CA2047353573 | BBS10 | c.1009G= (p.Glu337=)
| |
12 | g.76346976C>G | CA385813171 | BBS10 | c.1009G>C (p.Glu337Gln)
| |
12 | g.76346976C>T | CA385813173 | BBS10 | c.1009G>A (p.Glu337Lys)
| gnomAD v4 |
12 | g.76346976_76346979del | CA912974171 | BBS10 | c.1006_1009del (p.Ser336LysfsTer?)
| |
12 | g.76346976_76346979delinsCTGA | CA2047353574 | BBS10 | c.1006_1009delinsTCAG (p.Ser336=)
| |
12 | g.76346977T>A | CA481011461 | BBS10 | c.1008A>T (p.Ser336=)
| |
12 | g.76346977T>C | CA481011462 | BBS10 | c.1008A>G (p.Ser336=)
| |
12 | g.76346977T>G | CA481011463 | BBS10 | c.1008A>C (p.Ser336=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346977T= | CA2047353575 | BBS10 | c.1008A= (p.Ser336=)
| |
12 | g.76346981_76346983del | CA658823430 | BBS10 | c.1006_1008del (p.Ser336del)
| ClinVar dbSNP |
12 | g.76346978G>A | CA385813176 | BBS10 | c.1007C>T (p.Ser336Leu)
| |
12 | g.76346978G>C | CA385813178 | BBS10 | c.1007C>G (p.Ser336Ter)
| ClinVar dbSNP |
12 | g.76346978G= | CA2047353576 | BBS10 | c.1007C= (p.Ser336=)
| |
12 | g.76346978G>T | CA385813180 | BBS10 | c.1007C>A (p.Ser336Ter)
| gnomAD v4 |
12 | g.76346979A= | CA2047353577 | BBS10 | c.1006T= (p.Ser336=)
| |
12 | g.76346979A>C | CA385813182 | BBS10 | c.1006T>G (p.Ser336Ala)
| |
12 | g.76346979A>G | CA6694251 | BBS10 | c.1006T>C (p.Ser336Pro)
| dbSNP ExAC gnomAD v4 |
12 | g.76346979A>T | CA385813185 | BBS10 | c.1006T>A (p.Ser336Thr)
| |
12 | g.76346980T>A | CA481011469 | BBS10 | c.1005A>T (p.Ser335=)
| |
12 | g.76346980T>C | CA481011470 | BBS10 | c.1005A>G (p.Ser335=)
| ClinVar gnomAD v4 |
12 | g.76346980T>G | CA481011468 | BBS10 | c.1005A>C (p.Ser335=)
| |
12 | g.76346980_76346981insTA | CA2619945592 | BBS10 | c.1004_1005insTA (p.Ser336AsnfsTer?)
| gnomAD v4 |
12 | g.76346981G>A | CA385813190 | BBS10 | c.1004C>T (p.Ser335Leu)
| gnomAD v4 |
12 | g.76346981G>C | CA385813192 | BBS10 | c.1004C>G (p.Ser335Ter)
| |
12 | g.76346981G>T | CA385813188 | BBS10 | c.1004C>A (p.Ser335Ter)
| gnomAD v4 |
12 | g.76346982A>C | CA385813198 | BBS10 | c.1003T>G (p.Ser335Ala)
| |
12 | g.76346982A>G | CA385813194 | BBS10 | c.1003T>C (p.Ser335Pro)
| |
12 | g.76346982A>T | CA385813196 | BBS10 | c.1003T>A (p.Ser335Thr)
| |
12 | g.76346983T>A | CA385813200 | BBS10 | c.1002A>T (p.Leu334Phe)
| |
12 | g.76346983T>C | CA481011473 | BBS10 | c.1002A>G (p.Leu334=)
| |
12 | g.76346983T>G | CA385813202 | BBS10 | c.1002A>C (p.Leu334Phe)
| gnomAD v4 |
12 | g.76346984A= | CA2047353578 | BBS10 | c.1001T= (p.Leu334=)
| |
12 | g.76346984A>C | CA385813204 | BBS10 | c.1001T>G (p.Leu334Ter)
| |
12 | g.76346984A>G | CA385813206 | BBS10 | c.1001T>C (p.Leu334Ser)
| dbSNP |
12 | g.76346984A>T | CA385813208 | BBS10 | c.1001T>A (p.Leu334Ter)
| |
12 | g.76346984_76346985insTC | CA658823431 | BBS10 | c.1000_1001insGA (p.Leu334Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346985A>C | CA385813210 | BBS10 | c.1000T>G (p.Leu334Val)
| |
12 | g.76346985A>G | CA481011475 | BBS10 | c.1000T>C (p.Leu334=)
| |
12 | g.76346985A>T | CA385813212 | BBS10 | c.1000T>A (p.Leu334Ile)
| |
12 | g.76346986A= | CA2047353579 | BBS10 | c.999T= (p.Cys333=)
| |
12 | g.76346986A>C | CA385813214 | BBS10 | c.999T>G (p.Cys333Trp)
| dbSNP |
12 | g.76346986A>G | CA481011476 | BBS10 | c.999T>C (p.Cys333=)
| ClinVar dbSNP |
12 | g.76346986A>T | CA385813216 | BBS10 | c.999T>A (p.Cys333Ter)
| ClinVar dbSNP |
12 | g.76346986_76346990del | CA2580582986 | BBS10 | c.995_999del (p.Glu332ValfsTer28)
| |
12 | g.76346987C>A | CA385813222 | BBS10 | c.998G>T (p.Cys333Phe)
| |
12 | g.76346987C>G | CA385813220 | BBS10 | c.998G>C (p.Cys333Ser)
| |
12 | g.76346987C>T | CA385813218 | BBS10 | c.998G>A (p.Cys333Tyr)
| |
12 | g.76346988A>C | CA385813223 | BBS10 | c.997T>G (p.Cys333Gly)
| |
12 | g.76346988A>G | CA385813224 | BBS10 | c.997T>C (p.Cys333Arg)
| |
12 | g.76346988A>T | CA385813227 | BBS10 | c.997T>A (p.Cys333Ser)
| |
12 | g.76346989C>A | CA385813228 | BBS10 | c.996G>T (p.Glu332Asp)
| gnomAD v4 |
12 | g.76346989C= | CA2047353580 | BBS10 | c.996G= (p.Glu332=)
| |
12 | g.76346989C>G | CA385813230 | BBS10 | c.996G>C (p.Glu332Asp)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346989C>T | CA6694252 | BBS10 | c.996G>A (p.Glu332=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346989_76346990insATGTGCATT | CA2530552745 | BBS10 | c.995_996insAATGCACAT (p.Glu332_Cys333insMetHisMet)
| |
12 | g.76346990T>A | CA385813233 | BBS10 | c.995A>T (p.Glu332Val)
| |
12 | g.76346990T>C | CA385813235 | BBS10 | c.995A>G (p.Glu332Gly)
| |
12 | g.76346990T>G | CA385813237 | BBS10 | c.995A>C (p.Glu332Ala)
| |
12 | g.76346991C>A | CA385813239 | BBS10 | c.994G>T (p.Glu332Ter)
| |
12 | g.76346991C>G | CA385813241 | BBS10 | c.994G>C (p.Glu332Gln)
| |
12 | g.76346991C>T | CA385813243 | BBS10 | c.994G>A (p.Glu332Lys)
| |
12 | g.76346992A>C | CA481011575 | BBS10 | c.993T>G (p.Val331=)
| |
12 | g.76346992A>G | CA481011576 | BBS10 | c.993T>C (p.Val331=)
| |
12 | g.76346992A>T | CA481011577 | BBS10 | c.993T>A (p.Val331=)
| |
12 | g.76346993A>C | CA385813251 | BBS10 | c.992T>G (p.Val331Gly)
| |
12 | g.76346993A>G | CA385813253 | BBS10 | c.992T>C (p.Val331Ala)
| ClinVar gnomAD v4 |
12 | g.76346993A>T | CA385813249 | BBS10 | c.992T>A (p.Val331Asp)
| |
12 | g.76346994C>A | CA385813256 | BBS10 | c.991G>T (p.Val331Phe)
| |
12 | g.76346994C>G | CA385813257 | BBS10 | c.991G>C (p.Val331Leu)
| |
12 | g.76346994C>T | CA385813259 | BBS10 | c.991G>A (p.Val331Ile)
| |
12 | g.76346995C>A | CA481011578 | BBS10 | c.990G>T (p.Val330=)
| |
12 | g.76346995C>G | CA481011579 | BBS10 | c.990G>C (p.Val330=)
| |
12 | g.76346995C>T | CA481011580 | BBS10 | c.990G>A (p.Val330=)
| |
12 | g.76346996A>C | CA385813262 | BBS10 | c.989T>G (p.Val330Gly)
| |
12 | g.76346996A>G | CA385813263 | BBS10 | c.989T>C (p.Val330Ala)
| gnomAD v4 |
12 | g.76346996A>T | CA385813265 | BBS10 | c.989T>A (p.Val330Glu)
| |
12 | g.76346997C>A | CA385813268 | BBS10 | c.988G>T (p.Val330Leu)
| gnomAD v4 |
12 | g.76346997C= | CA2047353581 | BBS10 | c.988G= (p.Val330=)
| |
12 | g.76346997C>G | CA385813269 | BBS10 | c.988G>C (p.Val330Leu)
| |
12 | g.76346997C>T | CA385813271 | BBS10 | c.988G>A (p.Val330Met)
| dbSNP gnomAD v2 |
12 | g.76346998T>A | CA481011583 | BBS10 | c.987A>T (p.Ser329=)
| |
12 | g.76346998T>C | CA481011582 | BBS10 | c.987A>G (p.Ser329=)
| |
12 | g.76346998T>G | CA481011581 | BBS10 | c.987A>C (p.Ser329=)
| |
12 | g.76346999G>A | CA239332125 | BBS10 | c.986C>T (p.Ser329Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346999G>C | CA385813275 | BBS10 | c.986C>G (p.Ser329Ter)
| |
12 | g.76346999G= | CA2047353582 | BBS10 | c.986C= (p.Ser329=)
| |
12 | g.76346999G>T | CA385813277 | BBS10 | c.986C>A (p.Ser329Ter)
| gnomAD v4 |
12 | g.76347000A>C | CA385813282 | BBS10 | c.985T>G (p.Ser329Ala)
| |
12 | g.76347000A>G | CA385813284 | BBS10 | c.985T>C (p.Ser329Pro)
| gnomAD v4 |
12 | g.76347000A>T | CA385813280 | BBS10 | c.985T>A (p.Ser329Thr)
| |
12 | g.76347001T>A | CA481011584 | BBS10 | c.984A>T (p.Ile328=)
| |
12 | g.76347001T>C | CA385813286 | BBS10 | c.984A>G (p.Ile328Met)
| |
12 | g.76347001T>G | CA481011585 | BBS10 | c.984A>C (p.Ile328=)
| |
12 | g.76347002A>C | CA385813288 | BBS10 | c.983T>G (p.Ile328Arg)
| |
12 | g.76347002A>G | CA385813290 | BBS10 | c.983T>C (p.Ile328Thr)
| |
12 | g.76347002A>T | CA385813292 | BBS10 | c.983T>A (p.Ile328Lys)
| |
12 | g.76347003T>A | CA385813294 | BBS10 | c.982A>T (p.Ile328Leu)
| |
12 | g.76347003T>C | CA385813295 | BBS10 | c.982A>G (p.Ile328Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347003T>G | CA385813298 | BBS10 | c.982A>C (p.Ile328Leu)
| |
12 | g.76347003T= | CA2047353583 | BBS10 | c.982A= (p.Ile328=)
| |
12 | g.76347003_76347005del | CA2796591356 | BBS10 | c.980_982del (p.Gly327_Ile328delinsVal)
| |
12 | g.76347004G>A | CA481011586 | BBS10 | c.981C>T (p.Gly327=)
| |
12 | g.76347004G>C | CA481011588 | BBS10 | c.981C>G (p.Gly327=)
| |
12 | g.76347004G>T | CA481011587 | BBS10 | c.981C>A (p.Gly327=)
| |
12 | g.76347005C>A | CA385813300 | BBS10 | c.980G>T (p.Gly327Val)
| |
12 | g.76347005C>G | CA385813304 | BBS10 | c.980G>C (p.Gly327Ala)
| |
12 | g.76347005C>T | CA385813302 | BBS10 | c.980G>A (p.Gly327Asp)
| |
12 | g.76347006C>A | CA385813306 | BBS10 | c.979G>T (p.Gly327Cys)
| |
12 | g.76347006C>G | CA385813308 | BBS10 | c.979G>C (p.Gly327Arg)
| gnomAD v4 |
12 | g.76347006C>T | CA385813309 | BBS10 | c.979G>A (p.Gly327Ser)
| gnomAD v4 |
12 | g.76347007A>C | CA385813311 | BBS10 | c.978T>G (p.Asn326Lys)
| |
12 | g.76347007A>G | CA481011590 | BBS10 | c.978T>C (p.Asn326=)
| |
12 | g.76347007A>T | CA385813312 | BBS10 | c.978T>A (p.Asn326Lys)
| |
12 | g.76347008T>A | CA385813316 | BBS10 | c.977A>T (p.Asn326Ile)
| |
12 | g.76347008T>C | CA385813318 | BBS10 | c.977A>G (p.Asn326Ser)
| dbSNP |
12 | g.76347008T>G | CA385813314 | BBS10 | c.977A>C (p.Asn326Thr)
| |
12 | g.76347008T= | CA2047353584 | BBS10 | c.977A= (p.Asn326=)
| |
12 | g.76347009T>A | CA385813322 | BBS10 | c.976A>T (p.Asn326Tyr)
| |
12 | g.76347009T>C | CA385813320 | BBS10 | c.976A>G (p.Asn326Asp)
| |
12 | g.76347009T>G | CA385813324 | BBS10 | c.976A>C (p.Asn326His)
| gnomAD v4 |
12 | g.76347010C>A | CA481011592 | BBS10 | c.975G>T (p.Val325=)
| |
12 | g.76347010C= | CA2047353585 | BBS10 | c.975G= (p.Val325=)
| |
12 | g.76347010C>G | CA481011594 | BBS10 | c.975G>C (p.Val325=)
| |
12 | g.76347010C>T | CA481011595 | BBS10 | c.975G>A (p.Val325=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347011A= | CA2047353586 | BBS10 | c.974T= (p.Val325=)
| |
12 | g.76347011A>C | CA385813326 | BBS10 | c.974T>G (p.Val325Gly)
| |
12 | g.76347011A>G | CA385813328 | BBS10 | c.974T>C (p.Val325Ala)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347011A>T | CA385813330 | BBS10 | c.974T>A (p.Val325Glu)
| |
12 | g.76347012C>A | CA385813332 | BBS10 | c.973G>T (p.Val325Leu)
| gnomAD v4 |
12 | g.76347012C= | CA2047353587 | BBS10 | c.973G= (p.Val325=)
| |
12 | g.76347012C>G | CA385813334 | BBS10 | c.973G>C (p.Val325Leu)
| |
12 | g.76347012C>T | CA385813336 | BBS10 | c.973G>A (p.Val325Met)
| dbSNP gnomAD v4 |
12 | g.76347013C>A | CA481011599 | BBS10 | c.972G>T (p.Gly324=)
| |
12 | g.76347013C>G | CA481011597 | BBS10 | c.972G>C (p.Gly324=)
| |
12 | g.76347013C>T | CA481011596 | BBS10 | c.972G>A (p.Gly324=)
| gnomAD v4 |
12 | g.76347014C>A | CA385813337 | BBS10 | c.971G>T (p.Gly324Val)
| |
12 | g.76347014C= | CA2047353588 | BBS10 | c.971G= (p.Gly324=)
| |
12 | g.76347014C>G | CA385813339 | BBS10 | c.971G>C (p.Gly324Ala)
| |
12 | g.76347014C>T | CA385813340 | BBS10 | c.971G>A (p.Gly324Glu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347015C>A | CA385813342 | BBS10 | c.970G>T (p.Gly324Trp)
| gnomAD v4 |
12 | g.76347015C= | CA2047353589 | BBS10 | c.970G= (p.Gly324=)
| |
12 | g.76347015C>G | CA385813343 | BBS10 | c.970G>C (p.Gly324Arg)
| dbSNP |
12 | g.76347015C>T | CA385813344 | BBS10 | c.970G>A (p.Gly324Arg)
| |
12 | g.76347016T>A | CA481011601 | BBS10 | c.969A>T (p.Ala323=)
| |
12 | g.76347016T>C | CA481011602 | BBS10 | c.969A>G (p.Ala323=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347016T>G | CA481011603 | BBS10 | c.969A>C (p.Ala323=)
| ClinVar |
12 | g.76347016T= | CA2047353590 | BBS10 | c.969A= (p.Ala323=)
| |
12 | g.76347017G>A | CA385813351 | BBS10 | c.968C>T (p.Ala323Val)
| ClinVar gnomAD v4 |
12 | g.76347017G>C | CA385813346 | BBS10 | c.968C>G (p.Ala323Gly)
| |
12 | g.76347017G>T | CA385813349 | BBS10 | c.968C>A (p.Ala323Glu)
| gnomAD v4 |
12 | g.76347018C>A | CA385813355 | BBS10 | c.967G>T (p.Ala323Ser)
| ClinVar |
12 | g.76347018C>G | CA385813357 | BBS10 | c.967G>C (p.Ala323Pro)
| |
12 | g.76347018C>T | CA385813360 | BBS10 | c.967G>A (p.Ala323Thr)
| |
12 | g.76347019A= | CA2047353591 | BBS10 | c.966T= (p.Tyr322=)
| |
12 | g.76347019A>C | CA385813363 | BBS10 | c.966T>G (p.Tyr322Ter)
| |
12 | g.76347019A>G | CA6694253 | BBS10 | c.966T>C (p.Tyr322=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347019A>T | CA385813367 | BBS10 | c.966T>A (p.Tyr322Ter)
| |
12 | g.76347019dup | CA2619945595 | BBS10 | c.966dup (p.Ala323CysfsTer10)
| gnomAD v4 |
12 | g.76347023_76347025dup | CA2619945594 | BBS10 | c.964_966dup (p.Tyr322_Ala323insTyr)
| gnomAD v4 |
12 | g.76347023_76347025del | CA2575230729 | BBS10 | c.964_966del (p.Tyr322del)
| gnomAD v4 |
12 | g.76347020T>A | CA385813372 | BBS10 | c.965A>T (p.Tyr322Phe)
| |
12 | g.76347020T>C | CA6694254 | BBS10 | c.965A>G (p.Tyr322Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347020T>G | CA385813375 | BBS10 | c.965A>C (p.Tyr322Ser)
| |
12 | g.76347020T= | CA2047353592 | BBS10 | c.965A= (p.Tyr322=)
| |
12 | g.76347021A= | CA2047353593 | BBS10 | c.964T= (p.Tyr322=)
| |
12 | g.76347021A>C | CA385813378 | BBS10 | c.964T>G (p.Tyr322Asp)
| |
12 | g.76347021A>G | CA385813380 | BBS10 | c.964T>C (p.Tyr322His)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347021A>T | CA385813386 | BBS10 | c.964T>A (p.Tyr322Asn)
| |
12 | g.76347022A= | CA2047353595 | BBS10 | c.963T= (p.Tyr321=)
| |
12 | g.76347022A>C | CA385813396 | BBS10 | c.963T>G (p.Tyr321Ter)
| ClinVar dbSNP |
12 | g.76347022A>G | CA6694255 | BBS10 | c.963T>C (p.Tyr321=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347022A>T | CA385813390 | BBS10 | c.963T>A (p.Tyr321Ter)
| |
12 | g.76347022_76347026delinsATAAC | CA2047353594 | BBS10 | c.959_963delinsGTTAT (p.Ser320=)
| |
12 | g.76347023T>A | CA385813401 | BBS10 | c.962A>T (p.Tyr321Phe)
| |
12 | g.76347023T>C | CA6694257 | BBS10 | c.962A>G (p.Tyr321Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347023T>G | CA385813405 | BBS10 | c.962A>C (p.Tyr321Ser)
| |
12 | g.76347023T= | CA2047353596 | BBS10 | c.962A= (p.Tyr321=)
| |
12 | g.76347030_76347033del | CA6694256 | BBS10 | c.959_962del (p.Ser320IlefsTer5)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347024A>C | CA385813411 | BBS10 | c.961T>G (p.Tyr321Asp)
| |
12 | g.76347024A>G | CA385813413 | BBS10 | c.961T>C (p.Tyr321His)
| |
12 | g.76347024A>T | CA385813421 | BBS10 | c.961T>A (p.Tyr321Asn)
| |
12 | g.76347025A= | CA2047353597 | BBS10 | c.960T= (p.Ser320=)
| |
12 | g.76347025A>C | CA385813424 | BBS10 | c.960T>G (p.Ser320Arg)
| gnomAD v4 |
12 | g.76347025A>G | CA481011613 | BBS10 | c.960T>C (p.Ser320=)
| |
12 | g.76347025A>T | CA385813425 | BBS10 | c.960T>A (p.Ser320Arg)
| dbSNP |
12 | g.76347026C>A | CA385813429 | BBS10 | c.959G>T (p.Ser320Ile)
| dbSNP |
12 | g.76347026C>G | CA385813431 | BBS10 | c.959G>C (p.Ser320Thr)
| |
12 | g.76347026C>T | CA385813433 | BBS10 | c.959G>A (p.Ser320Asn)
| |
12 | g.76347027T>A | CA385813437 | BBS10 | c.958A>T (p.Ser320Cys)
| |
12 | g.76347027T>C | CA385813439 | BBS10 | c.958A>G (p.Ser320Gly)
| |
12 | g.76347027T>G | CA385813435 | BBS10 | c.958A>C (p.Ser320Arg)
| |
12 | g.76347028A= | CA2047353598 | BBS10 | c.957T= (p.Val319=)
| |
12 | g.76347028A>C | CA481011617 | BBS10 | c.957T>G (p.Val319=)
| |
12 | g.76347028A>G | CA6694258 | BBS10 | c.957T>C (p.Val319=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347028A>T | CA481011618 | BBS10 | c.957T>A (p.Val319=)
| |
12 | g.76347029A= | CA2047353599 | BBS10 | c.956T= (p.Val319=)
| |
12 | g.76347029A>C | CA6694259 | BBS10 | c.956T>G (p.Val319Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347029A>G | CA385813445 | BBS10 | c.956T>C (p.Val319Ala)
| |
12 | g.76347029A>T | CA385813447 | BBS10 | c.956T>A (p.Val319Asp)
| |
12 | g.76347030C>A | CA385813451 | BBS10 | c.955G>T (p.Val319Phe)
| |
12 | g.76347030C= | CA2047353600 | BBS10 | c.955G= (p.Val319=)
| |
12 | g.76347030C>G | CA6694260 | BBS10 | c.955G>C (p.Val319Leu)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.76347030C>T | CA385813450 | BBS10 | c.955G>A (p.Val319Ile)
| |
12 | g.76347031T>A | CA239332138 | BBS10 | c.954A>T (p.Leu318Phe)
| dbSNP gnomAD v2 |
12 | g.76347031T>C | CA481011620 | BBS10 | c.954A>G (p.Leu318=)
| gnomAD v4 |
12 | g.76347031T>G | CA385813457 | BBS10 | c.954A>C (p.Leu318Phe)
| |
12 | g.76347031T= | CA2047353601 | BBS10 | c.954A= (p.Leu318=)
| |
12 | g.76347032A>C | CA385813459 | BBS10 | c.953T>G (p.Leu318Ter)
| |
12 | g.76347032A>G | CA385813461 | BBS10 | c.953T>C (p.Leu318Ser)
| |
12 | g.76347032A>T | CA385813463 | BBS10 | c.953T>A (p.Leu318Ter)
| |
12 | g.76347034del | CA2573148993 | BBS10 | c.953del (p.Leu318Ter)
| ClinVar dbSNP |
12 | g.76347033A= | CA2047353602 | BBS10 | c.952T= (p.Leu318=)
| |
12 | g.76347033A>C | CA6694261 | BBS10 | c.952T>G (p.Leu318Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347033A>G | CA481011621 | BBS10 | c.952T>C (p.Leu318=)
| |
12 | g.76347033A>T | CA385813466 | BBS10 | c.952T>A (p.Leu318Ile)
| |
12 | g.76347034A>C | CA385813469 | BBS10 | c.951T>G (p.Asp317Glu)
| |
12 | g.76347034A>G | CA481011623 | BBS10 | c.951T>C (p.Asp317=)
| ClinVar |
12 | g.76347034A>T | CA385813468 | BBS10 | c.951T>A (p.Asp317Glu)
| |
12 | g.76347035T>A | CA385813472 | BBS10 | c.950A>T (p.Asp317Val)
| gnomAD v4 |
12 | g.76347035T>C | CA385813475 | BBS10 | c.950A>G (p.Asp317Gly)
| |
12 | g.76347035T>G | CA385813474 | BBS10 | c.950A>C (p.Asp317Ala)
| |
12 | g.76347036C>A | CA385813478 | BBS10 | c.949G>T (p.Asp317Tyr)
| COSMIC |
12 | g.76347036C>G | CA385813480 | BBS10 | c.949G>C (p.Asp317His)
| |
12 | g.76347036C>T | CA385813481 | BBS10 | c.949G>A (p.Asp317Asn)
| |
12 | g.76347037T>A | CA481011624 | BBS10 | c.948A>T (p.Pro316=)
| |
12 | g.76347037T>C | CA481011625 | BBS10 | c.948A>G (p.Pro316=)
| |
12 | g.76347037T>G | CA481011626 | BBS10 | c.948A>C (p.Pro316=)
| |
12 | g.76347038G>A | CA385813484 | BBS10 | c.947C>T (p.Pro316Leu)
| gnomAD v4 |
12 | g.76347038G>C | CA385813486 | BBS10 | c.947C>G (p.Pro316Arg)
| gnomAD v4 |
12 | g.76347038G>T | CA385813488 | BBS10 | c.947C>A (p.Pro316Gln)
| |
12 | g.76347039G>A | CA385813494 | BBS10 | c.946C>T (p.Pro316Ser)
| |
12 | g.76347039G>C | CA385813490 | BBS10 | c.946C>G (p.Pro316Ala)
| ClinVar dbSNP |
12 | g.76347039G>T | CA385813492 | BBS10 | c.946C>A (p.Pro316Thr)
| gnomAD v4 |
12 | g.76347042_76347044del | CA2575230730 | BBS10 | c.944_946del (p.Gln315del)
| |
12 | g.76347040T>A | CA385813496 | BBS10 | c.945A>T (p.Gln315His)
| |
12 | g.76347040T>C | CA481011628 | BBS10 | c.945A>G (p.Gln315=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347040T>G | CA385813499 | BBS10 | c.945A>C (p.Gln315His)
| |
12 | g.76347041T>A | CA385813500 | BBS10 | c.944A>T (p.Gln315Leu)
| |
12 | g.76347041T>C | CA385813502 | BBS10 | c.944A>G (p.Gln315Arg)
| gnomAD v4 |
12 | g.76347041T>G | CA385813504 | BBS10 | c.944A>C (p.Gln315Pro)
| |
12 | g.76347042G>A | CA385813506 | BBS10 | c.943C>T (p.Gln315Ter)
| ClinVar dbSNP |
12 | g.76347042G>C | CA385813510 | BBS10 | c.943C>G (p.Gln315Glu)
| |
12 | g.76347042G= | CA2047353603 | BBS10 | c.943C= (p.Gln315=)
| |
12 | g.76347042G>T | CA385813508 | BBS10 | c.943C>A (p.Gln315Lys)
| |
12 | g.76347043T>A | CA385813512 | BBS10 | c.942A>T (p.Lys314Asn)
| |
12 | g.76347043T>C | CA6694262 | BBS10 | c.942A>G (p.Lys314=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347043T>G | CA385813514 | BBS10 | c.942A>C (p.Lys314Asn)
| |
12 | g.76347043T= | CA2047353604 | BBS10 | c.942A= (p.Lys314=)
| |
12 | g.76347044T>A | CA385813517 | BBS10 | c.941A>T (p.Lys314Ile)
| |
12 | g.76347044T>C | CA385813518 | BBS10 | c.941A>G (p.Lys314Arg)
| |
12 | g.76347044T>G | CA385813520 | BBS10 | c.941A>C (p.Lys314Thr)
| COSMIC |
12 | g.76347045T>A | CA385813523 | BBS10 | c.940A>T (p.Lys314Ter)
| |
12 | g.76347045T>C | CA385813524 | BBS10 | c.940A>G (p.Lys314Glu)
| dbSNP |
12 | g.76347045T>G | CA385813525 | BBS10 | c.940A>C (p.Lys314Gln)
| |
12 | g.76347046C>A | CA481011636 | BBS10 | c.939G>T (p.Val313=)
| |
12 | g.76347046C= | CA2047353605 | BBS10 | c.939G= (p.Val313=)
| |
12 | g.76347046C>G | CA481011637 | BBS10 | c.939G>C (p.Val313=)
| |
12 | g.76347046C>T | CA6694263 | BBS10 | c.939G>A (p.Val313=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347047A>C | CA385813533 | BBS10 | c.938T>G (p.Val313Gly)
| |
12 | g.76347047A>G | CA385813532 | BBS10 | c.938T>C (p.Val313Ala)
| |
12 | g.76347047A>T | CA385813529 | BBS10 | c.938T>A (p.Val313Glu)
| |
12 | g.76347048C>A | CA385813536 | BBS10 | c.937G>T (p.Val313Leu)
| |
12 | g.76347048C>G | CA385813538 | BBS10 | c.937G>C (p.Val313Leu)
| |
12 | g.76347048C>T | CA385813539 | BBS10 | c.937G>A (p.Val313Met)
| |
12 | g.76347049A= | CA2047353606 | BBS10 | c.936T= (p.Ser312=)
| |
12 | g.76347049A>C | CA385813540 | BBS10 | c.936T>G (p.Ser312Arg)
| |
12 | g.76347049A>G | CA6694264 | BBS10 | c.936T>C (p.Ser312=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347049A>T | CA385813542 | BBS10 | c.936T>A (p.Ser312Arg)
| |
12 | g.76347050C>A | CA385813545 | BBS10 | c.935G>T (p.Ser312Ile)
| |
12 | g.76347050C>G | CA385813547 | BBS10 | c.935G>C (p.Ser312Thr)
| |
12 | g.76347050C>T | CA385813548 | BBS10 | c.935G>A (p.Ser312Asn)
| |
12 | g.76347051T>A | CA385813554 | BBS10 | c.934A>T (p.Ser312Cys)
| |
12 | g.76347051T>C | CA6694265 | BBS10 | c.934A>G (p.Ser312Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347051T>G | CA385813556 | BBS10 | c.934A>C (p.Ser312Arg)
| |
12 | g.76347051T= | CA2047353607 | BBS10 | c.934A= (p.Ser312=)
| |
12 | g.76347052A>C | CA481011641 | BBS10 | c.933T>G (p.Ser311=)
| |
12 | g.76347052A>G | CA481011642 | BBS10 | c.933T>C (p.Ser311=)
| ClinVar |
12 | g.76347052A>T | CA481011643 | BBS10 | c.933T>A (p.Ser311=)
| |
12 | g.76347053G>A | CA385813560 | BBS10 | c.932C>T (p.Ser311Phe)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347053G>C | CA385813562 | BBS10 | c.932C>G (p.Ser311Cys)
| |
12 | g.76347053G= | CA2047353608 | BBS10 | c.932C= (p.Ser311=)
| |
12 | g.76347053G>T | CA385813559 | BBS10 | c.932C>A (p.Ser311Tyr)
| |
12 | g.76347054A= | CA2047353609 | BBS10 | c.931T= (p.Ser311=)
| |
12 | g.76347054A>C | CA251748 | BBS10 | c.931T>G (p.Ser311Ala)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347054A>G | CA385813566 | BBS10 | c.931T>C (p.Ser311Pro)
| gnomAD v4 |
12 | g.76347054A>T | CA385813568 | BBS10 | c.931T>A (p.Ser311Thr)
| |
12 | g.76347055T>A | CA481011646 | BBS10 | c.930A>T (p.Ile310=)
| |
12 | g.76347055T>C | CA385813570 | BBS10 | c.930A>G (p.Ile310Met)
| ClinVar |
12 | g.76347055T>G | CA481011647 | BBS10 | c.930A>C (p.Ile310=)
| |
12 | g.76347055dup | CA2796591357 | BBS10 | c.930dup (p.Ser311IlefsTer2)
| |
12 | g.76347056A>C | CA385813575 | BBS10 | c.929T>G (p.Ile310Arg)
| |
12 | g.76347056A>G | CA385813573 | BBS10 | c.929T>C (p.Ile310Thr)
| gnomAD v4 |
12 | g.76347056A>T | CA385813572 | BBS10 | c.929T>A (p.Ile310Lys)
| |
12 | g.76347057T>A | CA385813577 | BBS10 | c.928A>T (p.Ile310Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347057T>C | CA385813579 | BBS10 | c.928A>G (p.Ile310Val)
| dbSNP gnomAD v4 |
12 | g.76347057T>G | CA385813581 | BBS10 | c.928A>C (p.Ile310Leu)
| |
12 | g.76347057T= | CA2047353610 | BBS10 | c.928A= (p.Ile310=)
| |
12 | g.76347058G>A | CA481011650 | BBS10 | c.927C>T (p.Leu309=)
| gnomAD v4 |
12 | g.76347058G>C | CA481011651 | BBS10 | c.927C>G (p.Leu309=)
| ClinVar gnomAD v4 |
12 | g.76347058G>T | CA481011652 | BBS10 | c.927C>A (p.Leu309=)
| |
12 | g.76347059A= | CA2047353611 | BBS10 | c.926T= (p.Leu309=)
| |
12 | g.76347059A>C | CA385813584 | BBS10 | c.926T>G (p.Leu309Arg)
| |
12 | g.76347059A>G | CA385813588 | BBS10 | c.926T>C (p.Leu309Pro)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347059A>T | CA385813591 | BBS10 | c.926T>A (p.Leu309His)
| |
12 | g.76347060G>A | CA385813594 | BBS10 | c.925C>T (p.Leu309Phe)
| ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.76347060G>C | CA385813597 | BBS10 | c.925C>G (p.Leu309Val)
| |
12 | g.76347060G>T | CA385813595 | BBS10 | c.925C>A (p.Leu309Ile)
| |
12 | g.76347061C>A | CA385813599 | BBS10 | c.924G>T (p.Leu308Phe)
| ClinVar gnomAD v4 |
12 | g.76347061C>G | CA385813600 | BBS10 | c.924G>C (p.Leu308Phe)
| |
12 | g.76347061C>T | CA481011657 | BBS10 | c.924G>A (p.Leu308=)
| |