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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.122742955C>A | CA441120763 | BBS12 | c.1063C>A (p.Arg355=) | gnomAD v4 |
| 4 | g.122742955C= | CA1490417851 | BBS12 | c.1063C= (p.Arg355=) | |
| 4 | g.122742955C>G | CA358224315 | BBS12 | c.1063C>G (p.Arg355Gly) | |
| 4 | g.122742955C>T | CA251706 | BBS12 | c.1063C>T (p.Arg355Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.122742956G>A | CA358224316 | BBS12 | c.1064G>A (p.Arg355Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742956G>C | CA358224317 | BBS12 | c.1064G>C (p.Arg355Pro) | |
| 4 | g.122742956G= | CA1490417852 | BBS12 | c.1064G= (p.Arg355=) | |
| 4 | g.122742956G>T | CA358224318 | BBS12 | c.1064G>T (p.Arg355Leu) | |
| 4 | g.122742957A>C | CA441120765 | BBS12 | c.1065A>C (p.Arg355=) | |
| 4 | g.122742957A>G | CA441120766 | BBS12 | c.1065A>G (p.Arg355=) | |
| 4 | g.122742957A>T | CA441120764 | BBS12 | c.1065A>T (p.Arg355=) | |
| 4 | g.122742958A>C | CA358224319 | BBS12 | c.1066A>C (p.Ile356Leu) | |
| 4 | g.122742958A>G | CA358224321 | BBS12 | c.1066A>G (p.Ile356Val) | |
| 4 | g.122742958A>T | CA358224320 | BBS12 | c.1066A>T (p.Ile356Leu) | |
| 4 | g.122742959T>A | CA358224322 | BBS12 | c.1067T>A (p.Ile356Lys) | |
| 4 | g.122742959T>C | CA358224324 | BBS12 | c.1067T>C (p.Ile356Thr) | |
| 4 | g.122742959T>G | CA358224323 | BBS12 | c.1067T>G (p.Ile356Arg) | |
| 4 | g.122742960A= | CA1490417853 | BBS12 | c.1068A= (p.Ile356=) | |
| 4 | g.122742960A>C | CA441120767 | BBS12 | c.1068A>C (p.Ile356=) | gnomAD v4 |
| 4 | g.122742960A>G | CA358224325 | BBS12 | c.1068A>G (p.Ile356Met) | dbSNP gnomAD v4 |
| 4 | g.122742960A>T | CA441120768 | BBS12 | c.1068A>T (p.Ile356=) | |
| 4 | g.122742961_122742989del | CA2697546895 | BBS12 | c.1069_1097del (p.Val357LeufsTer7) | ClinVar |
| 4 | g.122742961G>A | CA3069369 | BBS12 | c.1069G>A (p.Val357Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742961G>C | CA358224326 | BBS12 | c.1069G>C (p.Val357Leu) | |
| 4 | g.122742961G= | CA1490417854 | BBS12 | c.1069G= (p.Val357=) | |
| 4 | g.122742961G>T | CA358224327 | BBS12 | c.1069G>T (p.Val357Phe) | |
| 4 | g.122742962T>A | CA358224328 | BBS12 | c.1070T>A (p.Val357Asp) | gnomAD v4 |
| 4 | g.122742962T>C | CA358224329 | BBS12 | c.1070T>C (p.Val357Ala) | |
| 4 | g.122742962T>G | CA358224330 | BBS12 | c.1070T>G (p.Val357Gly) | |
| 4 | g.122742963T>A | CA441120769 | BBS12 | c.1071T>A (p.Val357=) | |
| 4 | g.122742963T>C | CA441120770 | BBS12 | c.1071T>C (p.Val357=) | |
| 4 | g.122742963T>G | CA441120771 | BBS12 | c.1071T>G (p.Val357=) | |
| 4 | g.122742965_122742966del | CA2695198524 | BBS12 | c.1073_1074del (p.Leu358HisfsTer2) | ClinVar |
| 4 | g.122742964C>A | CA358224331 | BBS12 | c.1072C>A (p.Leu358Ile) | COSMIC |
| 4 | g.122742964C= | CA1490417855 | BBS12 | c.1072C= (p.Leu358=) | |
| 4 | g.122742964C>G | CA358224332 | BBS12 | c.1072C>G (p.Leu358Val) | gnomAD v4 |
| 4 | g.122742964C>T | CA358224333 | BBS12 | c.1072C>T (p.Leu358Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122742965T>A | CA358224334 | BBS12 | c.1073T>A (p.Leu358His) | |
| 4 | g.122742965T>C | CA358224335 | BBS12 | c.1073T>C (p.Leu358Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742965T>G | CA358224336 | BBS12 | c.1073T>G (p.Leu358Arg) | |
| 4 | g.122742965T= | CA1490417856 | BBS12 | c.1073T= (p.Leu358=) | |
| 4 | g.122742966C>A | CA441120772 | BBS12 | c.1074C>A (p.Leu358=) | |
| 4 | g.122742966C= | CA1490417857 | BBS12 | c.1074C= (p.Leu358=) | |
| 4 | g.122742966C>G | CA441120773 | BBS12 | c.1074C>G (p.Leu358=) | |
| 4 | g.122742966C>T | CA441120774 | BBS12 | c.1074C>T (p.Leu358=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122742967A>C | CA358224339 | BBS12 | c.1075A>C (p.Ile359Leu) | gnomAD v4 |
| 4 | g.122742967A>G | CA358224338 | BBS12 | c.1075A>G (p.Ile359Val) | gnomAD v4 |
| 4 | g.122742967A>T | CA358224337 | BBS12 | c.1075A>T (p.Ile359Phe) | |
| 4 | g.122742968T>A | CA358224340 | BBS12 | c.1076T>A (p.Ile359Asn) | |
| 4 | g.122742968T>C | CA358224341 | BBS12 | c.1076T>C (p.Ile359Thr) | ClinVar dbSNP |
| 4 | g.122742968T>G | CA358224342 | BBS12 | c.1076T>G (p.Ile359Ser) | |
| 4 | g.122742968T= | CA1490417858 | BBS12 | c.1076T= (p.Ile359=) | |
| 4 | g.122742969T>A | CA441120775 | BBS12 | c.1077T>A (p.Ile359=) | |
| 4 | g.122742969T>C | CA441120776 | BBS12 | c.1077T>C (p.Ile359=) | |
| 4 | g.122742969T>G | CA358224343 | BBS12 | c.1077T>G (p.Ile359Met) | |
| 4 | g.122742970G>A | CA358224344 | BBS12 | c.1078G>A (p.Glu360Lys) | COSMIC |
| 4 | g.122742970G>C | CA358224345 | BBS12 | c.1078G>C (p.Glu360Gln) | |
| 4 | g.122742970G= | CA1490417859 | BBS12 | c.1078G= (p.Glu360=) | |
| 4 | g.122742970G>T | CA358224346 | BBS12 | c.1078G>T (p.Glu360Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122742971A>C | CA358224347 | BBS12 | c.1079A>C (p.Glu360Ala) | |
| 4 | g.122742971A>G | CA358224348 | BBS12 | c.1079A>G (p.Glu360Gly) | |
| 4 | g.122742971A>T | CA358224349 | BBS12 | c.1079A>T (p.Glu360Val) | |
| 4 | g.122742971_122742972delinsAG | CA1490417860 | BBS12 | c.1079_1080delinsAG (p.Glu360=) | |
| 4 | g.122742972G>A | CA441120777 | BBS12 | c.1080G>A (p.Glu360=) | gnomAD v4 |
| 4 | g.122742972G>C | CA358224350 | BBS12 | c.1080G>C (p.Glu360Asp) | |
| 4 | g.122742972G>T | CA358224351 | BBS12 | c.1080G>T (p.Glu360Asp) | |
| 4 | g.122742972_122742974dup | CA2671993388 | BBS12 | c.1080_1082dup (p.Gly361_Asp362insGly) | gnomAD v4 |
| 4 | g.122742974del | CA16040930 | BBS12 | c.1082del (p.Gly361ValfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742973G>A | CA358224353 | BBS12 | c.1081G>A (p.Gly361Ser) | |
| 4 | g.122742973G>C | CA358224352 | BBS12 | c.1081G>C (p.Gly361Arg) | |
| 4 | g.122742973G>T | CA358224354 | BBS12 | c.1081G>T (p.Gly361Cys) | |
| 4 | g.122742974G>A | CA358224355 | BBS12 | c.1082G>A (p.Gly361Asp) | |
| 4 | g.122742974G>C | CA358224356 | BBS12 | c.1082G>C (p.Gly361Ala) | |
| 4 | g.122742974G>T | CA358224357 | BBS12 | c.1082G>T (p.Gly361Val) | gnomAD v4 |
| 4 | g.122742974_122742975delinsGT | CA1490417861 | BBS12 | c.1082_1083delinsGT (p.Gly361=) | |
| 4 | g.122742974_122742975insGGGT | CA2573138027 | BBS12 | c.1082_1083insGGGT (p.Asp362GlyfsTer2) | ClinVar dbSNP |
| 4 | g.122742975T>A | CA441120778 | BBS12 | c.1083T>A (p.Gly361=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 4 | g.122742975T>C | CA441120779 | BBS12 | c.1083T>C (p.Gly361=) | |
| 4 | g.122742975T>G | CA441120780 | BBS12 | c.1083T>G (p.Gly361=) | ClinVar dbSNP |
| 4 | g.122742975delinsGGGTG | CA1139658636 | BBS12 | c.1083delinsGGGTG (p.Asp362GlyfsTer13) | ClinVar dbSNP |
| 4 | g.122742976G>A | CA358224358 | BBS12 | c.1084G>A (p.Asp362Asn) | |
| 4 | g.122742976G>C | CA358224359 | BBS12 | c.1084G>C (p.Asp362His) | |
| 4 | g.122742976G>T | CA358224360 | BBS12 | c.1084G>T (p.Asp362Tyr) | |
| 4 | g.122742976dup | CA2671993389 | BBS12 | c.1084dup (p.Asp362GlyfsTer12) | gnomAD v4 |
| 4 | g.122742977A= | CA1490417862 | BBS12 | c.1085A= (p.Asp362=) | |
| 4 | g.122742977A>C | CA358224361 | BBS12 | c.1085A>C (p.Asp362Ala) | |
| 4 | g.122742977A>G | CA358224362 | BBS12 | c.1085A>G (p.Asp362Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122742977A>T | CA358224363 | BBS12 | c.1085A>T (p.Asp362Val) | |
| 4 | g.122742978C>A | CA358224364 | BBS12 | c.1086C>A (p.Asp362Glu) | |
| 4 | g.122742978C>G | CA358224365 | BBS12 | c.1086C>G (p.Asp362Glu) | |
| 4 | g.122742978C>T | CA441120781 | BBS12 | c.1086C>T (p.Asp362=) | |
| 4 | g.122742979C>A | CA358224368 | BBS12 | c.1087C>A (p.Leu363Ile) | |
| 4 | g.122742979C= | CA1490417863 | BBS12 | c.1087C= (p.Leu363=) | |
| 4 | g.122742979C>G | CA358224366 | BBS12 | c.1087C>G (p.Leu363Val) | |
| 4 | g.122742979C>T | CA358224367 | BBS12 | c.1087C>T (p.Leu363Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122742980_122742981del | CA2499217072 | BBS12 | c.1088_1089del (p.Leu363HisfsTer10) | ClinVar dbSNP |
| 4 | g.122742980T>A | CA358224369 | BBS12 | c.1088T>A (p.Leu363His) | |
| 4 | g.122742980T>C | CA358224370 | BBS12 | c.1088T>C (p.Leu363Pro) | |
| 4 | g.122742980T>G | CA358224371 | BBS12 | c.1088T>G (p.Leu363Arg) | |
| 4 | g.122742980_122742982delinsTCA | CA1490417864 | BBS12 | c.1088_1090delinsTCA (p.Leu363=) | |
| 4 | g.122742981C>A | CA3069370 | BBS12 | c.1089C>A (p.Leu363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742981C= | CA1490417865 | BBS12 | c.1089C= (p.Leu363=) | |
| 4 | g.122742981C>G | CA441120782 | BBS12 | c.1089C>G (p.Leu363=) | |
| 4 | g.122742981C>T | CA441120783 | BBS12 | c.1089C>T (p.Leu363=) | COSMIC |
| 4 | g.122742983_122742984del | CA917294031 | BBS12 | c.1091_1092del (p.Thr364ArgfsTer9) | dbSNP |
| 4 | g.122742982A>C | CA358224372 | BBS12 | c.1090A>C (p.Thr364Pro) | gnomAD v4 |
| 4 | g.122742982A>G | CA358224373 | BBS12 | c.1090A>G (p.Thr364Ala) | |
| 4 | g.122742982A>T | CA358224374 | BBS12 | c.1090A>T (p.Thr364Ser) | |
| 4 | g.122742983C>A | CA358224375 | BBS12 | c.1091C>A (p.Thr364Lys) | |
| 4 | g.122742983C>G | CA358224376 | BBS12 | c.1091C>G (p.Thr364Arg) | |
| 4 | g.122742983C>T | CA358224377 | BBS12 | c.1091C>T (p.Thr364Ile) | |
| 4 | g.122742983_122742984delinsCA | CA1490417866 | BBS12 | c.1091_1092delinsCA (p.Thr364=) | |
| 4 | g.122742984del | CA3069371 | BBS12 | c.1092del (p.Glu365ArgfsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742984A>C | CA441120786 | BBS12 | c.1092A>C (p.Thr364=) | |
| 4 | g.122742984A>G | CA441120785 | BBS12 | c.1092A>G (p.Thr364=) | |
| 4 | g.122742984A>T | CA441120784 | BBS12 | c.1092A>T (p.Thr364=) | |
| 4 | g.122742987_122742988del | CA2580616766 | BBS12 | c.1095_1096del (p.Asn366LeufsTer7) | ClinVar dbSNP gnomAD v4 |
| 4 | g.122742985G>A | CA358224380 | BBS12 | c.1093G>A (p.Glu365Lys) | |
| 4 | g.122742985G>C | CA358224379 | BBS12 | c.1093G>C (p.Glu365Gln) | |
| 4 | g.122742985G>T | CA358224378 | BBS12 | c.1093G>T (p.Glu365Ter) | |
| 4 | g.122742986A>C | CA358224381 | BBS12 | c.1094A>C (p.Glu365Ala) | |
| 4 | g.122742986A>G | CA358224383 | BBS12 | c.1094A>G (p.Glu365Gly) | |
| 4 | g.122742986A>T | CA358224382 | BBS12 | c.1094A>T (p.Glu365Val) | |
| 4 | g.122742987G>A | CA441120787 | BBS12 | c.1095G>A (p.Glu365=) | ClinVar dbSNP gnomAD v2 |
| 4 | g.122742987G>C | CA358224384 | BBS12 | c.1095G>C (p.Glu365Asp) | |
| 4 | g.122742987G= | CA1490417867 | BBS12 | c.1095G= (p.Glu365=) | |
| 4 | g.122742987G>T | CA105249194 | BBS12 | c.1095G>T (p.Glu365Asp) | ClinVar dbSNP gnomAD v4 |
| 4 | g.122742988A>C | CA358224385 | BBS12 | c.1096A>C (p.Asn366His) | |
| 4 | g.122742988A>G | CA358224386 | BBS12 | c.1096A>G (p.Asn366Asp) | |
| 4 | g.122742988A>T | CA358224387 | BBS12 | c.1096A>T (p.Asn366Tyr) | |
| 4 | g.122742989A>C | CA358224388 | BBS12 | c.1097A>C (p.Asn366Thr) | |
| 4 | g.122742989A>G | CA358224389 | BBS12 | c.1097A>G (p.Asn366Ser) | |
| 4 | g.122742989A>T | CA358224390 | BBS12 | c.1097A>T (p.Asn366Ile) | |
| 4 | g.122742990T>A | CA358224391 | BBS12 | c.1098T>A (p.Asn366Lys) | |
| 4 | g.122742990T>C | CA441120788 | BBS12 | c.1098T>C (p.Asn366=) | ClinVar dbSNP |
| 4 | g.122742990T>G | CA358224392 | BBS12 | c.1098T>G (p.Asn366Lys) | |
| 4 | g.122742991T>A | CA3069372 | BBS12 | c.1099T>A (p.Tyr367Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742991T>C | CA358224394 | BBS12 | c.1099T>C (p.Tyr367His) | |
| 4 | g.122742991T>G | CA358224393 | BBS12 | c.1099T>G (p.Tyr367Asp) | |
| 4 | g.122742991T= | CA1490417868 | BBS12 | c.1099T= (p.Tyr367=) | |
| 4 | g.122742992A>C | CA358224395 | BBS12 | c.1100A>C (p.Tyr367Ser) | |
| 4 | g.122742992A>G | CA358224396 | BBS12 | c.1100A>G (p.Tyr367Cys) | COSMIC |
| 4 | g.122742992A>T | CA358224397 | BBS12 | c.1100A>T (p.Tyr367Phe) | |
| 4 | g.122742992dup | CA913190188 | BBS12 | c.1100dup (p.Tyr367Ter) | ClinVar dbSNP gnomAD v4 |
| 4 | g.122742993C>A | CA358224398 | BBS12 | c.1101C>A (p.Tyr367Ter) | |
| 4 | g.122742993C= | CA1490417869 | BBS12 | c.1101C= (p.Tyr367=) | |
| 4 | g.122742993C>G | CA358224399 | BBS12 | c.1101C>G (p.Tyr367Ter) | |
| 4 | g.122742993C>T | CA3069373 | BBS12 | c.1101C>T (p.Tyr367=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742994C>A | CA358224400 | BBS12 | c.1102C>A (p.Arg368Ser) | |
| 4 | g.122742994C= | CA1490417870 | BBS12 | c.1102C= (p.Arg368=) | |
| 4 | g.122742994C>G | CA358224401 | BBS12 | c.1102C>G (p.Arg368Gly) | |
| 4 | g.122742994C>T | CA3069374 | BBS12 | c.1102C>T (p.Arg368Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.122742995G>A | CA3069375 | BBS12 | c.1103G>A (p.Arg368His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742995G>C | CA358224402 | BBS12 | c.1103G>C (p.Arg368Pro) | |
| 4 | g.122742995G= | CA1490417871 | BBS12 | c.1103G= (p.Arg368=) | |
| 4 | g.122742995G>T | CA358224403 | BBS12 | c.1103G>T (p.Arg368Leu) | COSMIC |
| 4 | g.122742996C>A | CA441120789 | BBS12 | c.1104C>A (p.Arg368=) | |
| 4 | g.122742996C>G | CA441120790 | BBS12 | c.1104C>G (p.Arg368=) | |
| 4 | g.122742996C>T | CA441120791 | BBS12 | c.1104C>T (p.Arg368=) | |
| 4 | g.122742997C>A | CA358224405 | BBS12 | c.1105C>A (p.His369Asn) | |
| 4 | g.122742997C>G | CA358224406 | BBS12 | c.1105C>G (p.His369Asp) | |
| 4 | g.122742997C>T | CA358224404 | BBS12 | c.1105C>T (p.His369Tyr) | |
| 4 | g.122742998A>C | CA358224407 | BBS12 | c.1106A>C (p.His369Pro) | gnomAD v4 |
| 4 | g.122742998A>G | CA358224408 | BBS12 | c.1106A>G (p.His369Arg) | |
| 4 | g.122742998A>T | CA358224409 | BBS12 | c.1106A>T (p.His369Leu) | |
| 4 | g.122742999C>A | CA358224410 | BBS12 | c.1107C>A (p.His369Gln) | |
| 4 | g.122742999C= | CA1490417872 | BBS12 | c.1107C= (p.His369=) | |
| 4 | g.122742999C>G | CA358224411 | BBS12 | c.1107C>G (p.His369Gln) | |
| 4 | g.122742999C>T | CA105249195 | BBS12 | c.1107C>T (p.His369=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122743000C>A | CA358224412 | BBS12 | c.1108C>A (p.Leu370Met) | |
| 4 | g.122743000C= | CA1490417873 | BBS12 | c.1108C= (p.Leu370=) | |
| 4 | g.122743000C>G | CA358224413 | BBS12 | c.1108C>G (p.Leu370Val) | |
| 4 | g.122743000C>T | CA3069376 | BBS12 | c.1108C>T (p.Leu370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122743001T>A | CA358224414 | BBS12 | c.1109T>A (p.Leu370Gln) | |
| 4 | g.122743001T>C | CA358224415 | BBS12 | c.1109T>C (p.Leu370Pro) | |
| 4 | g.122743001T>G | CA358224416 | BBS12 | c.1109T>G (p.Leu370Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122743001T= | CA1490417874 | BBS12 | c.1109T= (p.Leu370=) | |
| 4 | g.122743002G>A | CA441120792 | BBS12 | c.1110G>A (p.Leu370=) | gnomAD v4 COSMIC |
| 4 | g.122743002G>C | CA441120793 | BBS12 | c.1110G>C (p.Leu370=) | |
| 4 | g.122743002G>T | CA441120794 | BBS12 | c.1110G>T (p.Leu370=) | |
| 4 | g.122743003G>A | CA358224418 | BBS12 | c.1111G>A (p.Gly371Arg) | gnomAD v4 |
| 4 | g.122743003G>C | CA358224419 | BBS12 | c.1111G>C (p.Gly371Arg) | |
| 4 | g.122743003G>T | CA358224417 | BBS12 | c.1111G>T (p.Gly371Ter) | |
| 4 | g.122743004G>A | CA3069377 | BBS12 | c.1112G>A (p.Gly371Glu) | dbSNP ExAC gnomAD v2 |
| 4 | g.122743004G>C | CA358224420 | BBS12 | c.1112G>C (p.Gly371Ala) | dbSNP |
| 4 | g.122743004G= | CA1490417875 | BBS12 | c.1112G= (p.Gly371=) | |
| 4 | g.122743004G>T | CA358224421 | BBS12 | c.1112G>T (p.Gly371Val) | gnomAD v4 |
| 4 | g.122743005A>C | CA441120797 | BBS12 | c.1113A>C (p.Gly371=) | |
| 4 | g.122743005A>G | CA441120795 | BBS12 | c.1113A>G (p.Gly371=) | |
| 4 | g.122743005A>T | CA441120796 | BBS12 | c.1113A>T (p.Gly371=) | |
| 4 | g.122743005_122743007delinsATT | CA1490417876 | BBS12 | c.1113_1115delinsATT (p.Gly371=) | |
| 4 | g.122743006T>A | CA358224424 | BBS12 | c.1114T>A (p.Phe372Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122743006T>C | CA358224423 | BBS12 | c.1114T>C (p.Phe372Leu) | gnomAD v4 |
| 4 | g.122743006T>G | CA358224422 | BBS12 | c.1114T>G (p.Phe372Val) | |
| 4 | g.122743006T= | CA1490417877 | BBS12 | c.1114T= (p.Phe372=) | |
| 4 | g.122743007_122743008del | CA251712 | BBS12 | c.1115_1116del (p.Phe372Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122743007T>A | CA358224425 | BBS12 | c.1115T>A (p.Phe372Tyr) | gnomAD v4 |
| 4 | g.122743007T>C | CA358224426 | BBS12 | c.1115T>C (p.Phe372Ser) | |
| 4 | g.122743007T>G | CA358224427 | BBS12 | c.1115T>G (p.Phe372Cys) | |
| 4 | g.122743008T>A | CA358224428 | BBS12 | c.1116T>A (p.Phe372Leu) | |
| 4 | g.122743008T>C | CA441120798 | BBS12 | c.1116T>C (p.Phe372=) | |
| 4 | g.122743008T>G | CA358224429 | BBS12 | c.1116T>G (p.Phe372Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122743008T= | CA1490417878 | BBS12 | c.1116T= (p.Phe372=) | |
| 4 | g.122743009A>C | CA358224432 | BBS12 | c.1117A>C (p.Asn373His) | |
| 4 | g.122743009A>G | CA358224431 | BBS12 | c.1117A>G (p.Asn373Asp) | dbSNP |
| 4 | g.122743009A>T | CA358224430 | BBS12 | c.1117A>T (p.Asn373Tyr) | |
| 4 | g.122743009_122743010insT | CA2580071468 | BBS12 | c.1117_1118insT (p.Asn373IlefsTer2) | ClinVar |
| 4 | g.122743010A= | CA1490417879 | BBS12 | c.1118A= (p.Asn373=) | |
| 4 | g.122743010A>C | CA358224433 | BBS12 | c.1118A>C (p.Asn373Thr) | |
| 4 | g.122743010A>G | CA358224434 | BBS12 | c.1118A>G (p.Asn373Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122743010A>T | CA3069378 | BBS12 | c.1118A>T (p.Asn373Ile) | dbSNP ExAC gnomAD v2 |
| 4 | g.122743011T>A | CA358224435 | BBS12 | c.1119T>A (p.Asn373Lys) | |
| 4 | g.122743011T>C | CA441120799 | BBS12 | c.1119T>C (p.Asn373=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122743011T>G | CA358224436 | BBS12 | c.1119T>G (p.Asn373Lys) | |
| 4 | g.122743011T= | CA1490417880 | BBS12 | c.1119T= (p.Asn373=) | |
| 4 | g.122743012A>C | CA358224437 | BBS12 | c.1120A>C (p.Lys374Gln) | |
| 4 | g.122743012A>G | CA358224439 | BBS12 | c.1120A>G (p.Lys374Glu) | |
| 4 | g.122743012A>T | CA358224438 | BBS12 | c.1120A>T (p.Lys374Ter) | |
| 4 | g.122743013A>C | CA358224440 | BBS12 | c.1121A>C (p.Lys374Thr) | |
| 4 | g.122743013A>G | CA358224442 | BBS12 | c.1121A>G (p.Lys374Arg) | |
| 4 | g.122743013A>T | CA358224441 | BBS12 | c.1121A>T (p.Lys374Met) | |
| 4 | g.122743014G>A | CA441120800 | BBS12 | c.1122G>A (p.Lys374=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122743014G>C | CA3069379 | BBS12 | c.1122G>C (p.Lys374Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122743014G= | CA1490417881 | BBS12 | c.1122G= (p.Lys374=) | |
| 4 | g.122743014G>T | CA358224443 | BBS12 | c.1122G>T (p.Lys374Asn) | |
| 4 | g.122743015T>A | CA358224444 | BBS12 | c.1123T>A (p.Ser375Thr) | |
| 4 | g.122743015T>C | CA358224445 | BBS12 | c.1123T>C (p.Ser375Pro) | |
| 4 | g.122743015T>G | CA358224446 | BBS12 | c.1123T>G (p.Ser375Ala) | |
| 4 | g.122743016C>A | CA358224449 | BBS12 | c.1124C>A (p.Ser375Tyr) | |
| 4 | g.122743016C>G | CA358224448 | BBS12 | c.1124C>G (p.Ser375Cys) | |
| 4 | g.122743016C>T | CA358224447 | BBS12 | c.1124C>T (p.Ser375Phe) | |
| 4 | g.122743017T>A | CA441120801 | BBS12 | c.1125T>A (p.Ser375=) | |
| 4 | g.122743017T>C | CA441120803 | BBS12 | c.1125T>C (p.Ser375=) | |
| 4 | g.122743017T>G | CA441120802 | BBS12 | c.1125T>G (p.Ser375=) | |
| 4 | g.122743018G>A | CA358224450 | BBS12 | c.1126G>A (p.Ala376Thr) | |
| 4 | g.122743018G>C | CA358224451 | BBS12 | c.1126G>C (p.Ala376Pro) | |
| 4 | g.122743018G>T | CA358224452 | BBS12 | c.1126G>T (p.Ala376Ser) | |
| 4 | g.122743019C>A | CA358224453 | BBS12 | c.1127C>A (p.Ala376Glu) | |
| 4 | g.122743019C>G | CA358224454 | BBS12 | c.1127C>G (p.Ala376Gly) | |
| 4 | g.122743019C>T | CA358224455 | BBS12 | c.1127C>T (p.Ala376Val) | |
| 4 | g.122743020A>C | CA441120804 | BBS12 | c.1128A>C (p.Ala376=) | |
| 4 | g.122743020A>G | CA441120805 | BBS12 | c.1128A>G (p.Ala376=) | |
| 4 | g.122743020A>T | CA441120806 | BBS12 | c.1128A>T (p.Ala376=) | |
| 4 | g.122743021A>C | CA358224458 | BBS12 | c.1129A>C (p.Asn377His) | |
| 4 | g.122743021A>G | CA358224456 | BBS12 | c.1129A>G (p.Asn377Asp) | |
| 4 | g.122743021A>T | CA358224457 | BBS12 | c.1129A>T (p.Asn377Tyr) | |
| 4 | g.122743022A= | CA1490417882 | BBS12 | c.1130A= (p.Asn377=) | |
| 4 | g.122743022A>C | CA3069380 | BBS12 | c.1130A>C (p.Asn377Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122743022A>G | CA358224459 | BBS12 | c.1130A>G (p.Asn377Ser) | |
| 4 | g.122743022A>T | CA358224460 | BBS12 | c.1130A>T (p.Asn377Ile) | |
| 4 | g.122743023T>A | CA358224461 | BBS12 | c.1131T>A (p.Asn377Lys) | |
| 4 | g.122743023T>C | CA441120807 | BBS12 | c.1131T>C (p.Asn377=) | |
| 4 | g.122743023T>G | CA358224462 | BBS12 | c.1131T>G (p.Asn377Lys) | |
| 4 | g.122743024A= | CA1490417883 | BBS12 | c.1132A= (p.Ile378=) | |
| 4 | g.122743024A>C | CA358224463 | BBS12 | c.1132A>C (p.Ile378Leu) | gnomAD v4 |
| 4 | g.122743024A>G | CA358224464 | BBS12 | c.1132A>G (p.Ile378Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122743024A>T | CA358224465 | BBS12 | c.1132A>T (p.Ile378Phe) | |
| 4 | g.122743025T>A | CA358224466 | BBS12 | c.1133T>A (p.Ile378Asn) | |
| 4 | g.122743025T>C | CA358224467 | BBS12 | c.1133T>C (p.Ile378Thr) | gnomAD v4 |
| 4 | g.122743025T>G | CA358224468 | BBS12 | c.1133T>G (p.Ile378Ser) | |
| 4 | g.122743026T>A | CA441120808 | BBS12 | c.1134T>A (p.Ile378=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.122743026T>C | CA441120809 | BBS12 | c.1134T>C (p.Ile378=) | |
| 4 | g.122743026T>G | CA358224469 | BBS12 | c.1134T>G (p.Ile378Met) | gnomAD v4 |
| 4 | g.122743026T= | CA1490417884 | BBS12 | c.1134T= (p.Ile378=) | |
| 4 | g.122743027A= | CA1490417885 | BBS12 | c.1135A= (p.Lys379=) | |
| 4 | g.122743027A>C | CA358224470 | BBS12 | c.1135A>C (p.Lys379Gln) | |
| 4 | g.122743027A>G | CA3069381 | BBS12 | c.1135A>G (p.Lys379Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122743027A>T | CA358224471 | BBS12 | c.1135A>T (p.Lys379Ter) | |
| 4 | g.122743028A>C | CA358224472 | BBS12 | c.1136A>C (p.Lys379Thr) | |
| 4 | g.122743028A>G | CA358224473 | BBS12 | c.1136A>G (p.Lys379Arg) | gnomAD v4 |
| 4 | g.122743028A>T | CA358224474 | BBS12 | c.1136A>T (p.Lys379Ile) | |
| 4 | g.122743029A>C | CA358224475 | BBS12 | c.1137A>C (p.Lys379Asn) | |
| 4 | g.122743029A>G | CA441120811 | BBS12 | c.1137A>G (p.Lys379=) | |
| 4 | g.122743029A>T | CA358224476 | BBS12 | c.1137A>T (p.Lys379Asn) | |
| 4 | g.122743030A>C | CA358224477 | BBS12 | c.1138A>C (p.Thr380Pro) | |
| 4 | g.122743030A>G | CA358224478 | BBS12 | c.1138A>G (p.Thr380Ala) | |
| 4 | g.122743030A>T | CA358224479 | BBS12 | c.1138A>T (p.Thr380Ser) | |
| 4 | g.122743031C>A | CA358224480 | BBS12 | c.1139C>A (p.Thr380Lys) | |
| 4 | g.122743031C= | CA1490417886 | BBS12 | c.1139C= (p.Thr380=) | |
| 4 | g.122743031C>G | CA358224481 | BBS12 | c.1139C>G (p.Thr380Arg) | |
| 4 | g.122743031C>T | CA334780 | BBS12 | c.1139C>T (p.Thr380Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122743031_122743033del | CA913103437 | BBS12 | c.1139_1141del (p.Thr380_Val381delinsIle) | |
| 4 | g.122743031_122743033delinsCAG | CA1490417887 | BBS12 | c.1139_1141delinsCAG (p.Thr380=) | |
| 4 | g.122743032del | CA2695203794 | BBS12 | c.1140del (p.Val381TyrfsTer2) | |
| 4 | g.122743032A= | CA1490417888 | BBS12 | c.1140A= (p.Thr380=) | |
| 4 | g.122743032A>C | CA105249196 | BBS12 | c.1140A>C (p.Thr380=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122743032A>G | CA441120864 | BBS12 | c.1140A>G (p.Thr380=) | |
| 4 | g.122743032A>T | CA441120863 | BBS12 | c.1140A>T (p.Thr380=) | gnomAD v4 |
| 4 | g.122743032_122743033del | CA658821375 | BBS12 | c.1140_1141del (p.Val381IlefsTer3) | ClinVar dbSNP gnomAD v4 |
| 4 | g.122743033G>A | CA358224484 | BBS12 | c.1141G>A (p.Val381Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122743033G>C | CA358224482 | BBS12 | c.1141G>C (p.Val381Leu) | |
| 4 | g.122743033G= | CA1490417889 | BBS12 | c.1141G= (p.Val381=) | |
| 4 | g.122743033G>T | CA358224483 | BBS12 | c.1141G>T (p.Val381Leu) | |
| 4 | g.122743034T>A | CA358224485 | BBS12 | c.1142T>A (p.Val381Glu) | |
| 4 | g.122743034T>C | CA3069382 | BBS12 | c.1142T>C (p.Val381Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122743034T>G | CA358224486 | BBS12 | c.1142T>G (p.Val381Gly) | |
| 4 | g.122743034T= | CA1490417890 | BBS12 | c.1142T= (p.Val381=) | |
| 4 | g.122743035A= | CA1490417891 | BBS12 | c.1143A= (p.Val381=) | |
| 4 | g.122743035A>C | CA441120866 | BBS12 | c.1143A>C (p.Val381=) | |
| 4 | g.122743035A>G | CA105249197 | BBS12 | c.1143A>G (p.Val381=) | dbSNP |
| 4 | g.122743035A>T | CA441120867 | BBS12 | c.1143A>T (p.Val381=) | |
| 4 | g.122743036T>A | CA358224487 | BBS12 | c.1144T>A (p.Leu382Ile) | |
| 4 | g.122743036T>C | CA441120868 | BBS12 | c.1144T>C (p.Leu382=) | |
| 4 | g.122743036T>G | CA358224488 | BBS12 | c.1144T>G (p.Leu382Val) | |
| 4 | g.122743036_122743037del | CA2763361539 | BBS12 | c.1144_1145del (p.Leu382ArgfsTer2) | |
| 4 | g.122743037T>A | CA358224489 | BBS12 | c.1145T>A (p.Leu382Ter) | ClinVar |
| 4 | g.122743037T>C | CA358224490 | BBS12 | c.1145T>C (p.Leu382Ser) | dbSNP |
| 4 | g.122743037T>G | CA358224491 | BBS12 | c.1145T>G (p.Leu382Ter) | |
| 4 | g.122743037T= | CA1490417892 | BBS12 | c.1145T= (p.Leu382=) | |
| 4 | g.122743038A>C | CA358224492 | BBS12 | c.1146A>C (p.Leu382Phe) | |
| 4 | g.122743038A>G | CA441120871 | BBS12 | c.1146A>G (p.Leu382=) | gnomAD v4 |
| 4 | g.122743038A>T | CA358224493 | BBS12 | c.1146A>T (p.Leu382Phe) | |
| 4 | g.122743039G>A | CA3069383 | BBS12 | c.1147G>A (p.Asp383Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122743039G>C | CA358224495 | BBS12 | c.1147G>C (p.Asp383His) | |
| 4 | g.122743039G= | CA1490417893 | BBS12 | c.1147G= (p.Asp383=) | |
| 4 | g.122743039G>T | CA358224494 | BBS12 | c.1147G>T (p.Asp383Tyr) | |
| 4 | g.122743039_122743040insTG | CA2763361540 | BBS12 | c.1147_1148insTG (p.Asp383ValfsTer23) | |
| 4 | g.122743040A= | CA1490417894 | BBS12 | c.1148A= (p.Asp383=) | |
| 4 | g.122743040A>C | CA358224496 | BBS12 | c.1148A>C (p.Asp383Ala) | |
| 4 | g.122743040A>G | CA358224498 | BBS12 | c.1148A>G (p.Asp383Gly) | ClinVar dbSNP |
| 4 | g.122743040A>T | CA358224497 | BBS12 | c.1148A>T (p.Asp383Val) | |
| 4 | g.122743041del | CA2739270257 | BBS12 | c.1149del (p.Asp383GlufsTer22) | ClinVar |
| 4 | g.122743041T>A | CA358224499 | BBS12 | c.1149T>A (p.Asp383Glu) | |
| 4 | g.122743041T>C | CA441120875 | BBS12 | c.1149T>C (p.Asp383=) | |
| 4 | g.122743041T>G | CA358224500 | BBS12 | c.1149T>G (p.Asp383Glu) | |
| 4 | g.122743042A>C | CA358224501 | BBS12 | c.1150A>C (p.Ser384Arg) | |
| 4 | g.122743042A>G | CA358224502 | BBS12 | c.1150A>G (p.Ser384Gly) | |
| 4 | g.122743042A>T | CA358224503 | BBS12 | c.1150A>T (p.Ser384Cys) | gnomAD v4 |
| 4 | g.122743042_122743043del | CA913103438 | BBS12 | c.1150_1151del (p.Ser384HisfsTer?) | |
| 4 | g.122743042_122743043delinsAG | CA1490417895 | BBS12 | c.1150_1151delinsAG (p.Ser384=) | |
| 4 | g.122743043del | CA441120879 | BBS12 | c.1151del (p.Ser384ThrfsTer21) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122743043G>A | CA358224504 | BBS12 | c.1151G>A (p.Ser384Asn) | dbSNP gnomAD v2 |
| 4 | g.122743043G>C | CA358224505 | BBS12 | c.1151G>C (p.Ser384Thr) | |
| 4 | g.122743043G= | CA1490417896 | BBS12 | c.1151G= (p.Ser384=) | |
| 4 | g.122743043G>T | CA358224506 | BBS12 | c.1151G>T (p.Ser384Ile) | |
| 4 | g.122743044C>A | CA358224507 | BBS12 | c.1152C>A (p.Ser384Arg) | |
| 4 | g.122743044C= | CA1490417897 | BBS12 | c.1152C= (p.Ser384=) | |
| 4 | g.122743044C>G | CA358224508 | BBS12 | c.1152C>G (p.Ser384Arg) | |
| 4 | g.122743044C>T | CA3069384 | BBS12 | c.1152C>T (p.Ser384=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122743045A= | CA1490417898 | BBS12 | c.1153A= (p.Met385=) | |
| 4 | g.122743045A>C | CA358224510 | BBS12 | c.1153A>C (p.Met385Leu) | gnomAD v4 |
| 4 | g.122743045A>G | CA3069385 | BBS12 | c.1153A>G (p.Met385Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122743045A>T | CA358224509 | BBS12 | c.1153A>T (p.Met385Leu) | |
| 4 | g.122743046T>A | CA358224511 | BBS12 | c.1154T>A (p.Met385Lys) | |
| 4 | g.122743046T>C | CA358224512 | BBS12 | c.1154T>C (p.Met385Thr) | |
| 4 | g.122743046T>G | CA358224513 | BBS12 | c.1154T>G (p.Met385Arg) | gnomAD v4 |
| 4 | g.122743047G>A | CA358224514 | BBS12 | c.1155G>A (p.Met385Ile) | ClinVar dbSNP gnomAD v4 |
| 4 | g.122743047G>C | CA358224515 | BBS12 | c.1155G>C (p.Met385Ile) | |
| 4 | g.122743047G= | CA1490417899 | BBS12 | c.1155G= (p.Met385=) | |
| 4 | g.122743047G>T | CA358224516 | BBS12 | c.1155G>T (p.Met385Ile) | |
| 4 | g.122743048C>A | CA441120881 | BBS12 | c.1156C>A (p.Arg386=) | |
| 4 | g.122743048C= | CA1490417900 | BBS12 | c.1156C= (p.Arg386=) | |
| 4 | g.122743048C>G | CA358224517 | BBS12 | c.1156C>G (p.Arg386Gly) | |
| 4 | g.122743048C>T | CA3069386 | BBS12 | c.1156C>T (p.Arg386Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122743048_122743049delinsTA | CA2695203795 | BBS12 | c.1156_1157delinsTA (p.Arg386Ter) | |
| 4 | g.122743049G>A | CA179772 | BBS12 | c.1157G>A (p.Arg386Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122743049G>C | CA358224518 | BBS12 | c.1157G>C (p.Arg386Pro) | dbSNP |
| 4 | g.122743049G= | CA1490417901 | BBS12 | c.1157G= (p.Arg386=) | |
| 4 | g.122743049G>T | CA358224519 | BBS12 | c.1157G>T (p.Arg386Leu) | dbSNP gnomAD v4 |
| 4 | g.122743050G>A | CA441120882 | BBS12 | c.1158G>A (p.Arg386=) | |
| 4 | g.122743050G>C | CA441120883 | BBS12 | c.1158G>C (p.Arg386=) | |
| 4 | g.122743050G>T | CA441120884 | BBS12 | c.1158G>T (p.Arg386=) | |
| 4 | g.122743051C>A | CA358224521 | BBS12 | c.1159C>A (p.Leu387Ile) | |
| 4 | g.122743051C>G | CA358224522 | BBS12 | c.1159C>G (p.Leu387Val) | |
| 4 | g.122743051C>T | CA358224520 | BBS12 | c.1159C>T (p.Leu387Phe) | ClinVar gnomAD v4 |
| 4 | g.122743052T>A | CA358224523 | BBS12 | c.1160T>A (p.Leu387His) | |
| 4 | g.122743052T>C | CA358224524 | BBS12 | c.1160T>C (p.Leu387Pro) | |
| 4 | g.122743052T>G | CA358224525 | BBS12 | c.1160T>G (p.Leu387Arg) | |
| 4 | g.122743053del | CA2671993390 | BBS12 | c.1161del (p.Gln388LysfsTer17) | gnomAD v4 |
| 4 | g.122743053T>A | CA441120889 | BBS12 | c.1161T>A (p.Leu387=) | |
| 4 | g.122743053T>C | CA441120888 | BBS12 | c.1161T>C (p.Leu387=) | gnomAD v4 |
| 4 | g.122743053T>G | CA441120890 | BBS12 | c.1161T>G (p.Leu387=) | |
| 4 | g.122743054C>A | CA358224526 | BBS12 | c.1162C>A (p.Gln388Lys) | |
| 4 | g.122743054C>G | CA358224527 | BBS12 | c.1162C>G (p.Gln388Glu) | |
| 4 | g.122743054C>T | CA358224528 | BBS12 | c.1162C>T (p.Gln388Ter) | |
| 4 | g.122743055A>C | CA358224529 | BBS12 | c.1163A>C (p.Gln388Pro) | |
| 4 | g.122743055A>G | CA358224530 | BBS12 | c.1163A>G (p.Gln388Arg) | |
| 4 | g.122743055A>T | CA358224531 | BBS12 | c.1163A>T (p.Gln388Leu) | |
| 4 | g.122743059_122743061del | CA2560831165 | BBS12 | c.1167_1169del (p.Glu389del) |