Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.122742961_122742989del | CA2697546895 | BBS12 | c.1069_1097del (p.Val357LeufsTer7) | ClinVar |
4 | g.122742980_122742981del | CA2499217072 | BBS12 | c.1088_1089del (p.Leu363HisfsTer10) | ClinVar dbSNP |
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) |