Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169493763_169493768del | CA2577151050 | BBS5 | c.545_550del (p.Ile182_Thr183del) c.*267_*272del (n.*267_*272del) | |
2 | g.169493765A= | CA1306471321 | BBS5 | c.547A= (p.Thr183=) c.*269A= (n.*269A=) | |
2 | g.169493765A>C | CA349164980 | BBS5 | c.547A>C (p.Thr183Pro) c.*269A>C (n.*269A>C) | |
2 | g.169493765A>G | CA253785 | BBS5 | c.547A>G (p.Thr183Ala) c.*269A>G (n.*269A>G) | ClinVar dbSNP |
2 | g.169493765A>T | CA349164981 | BBS5 | c.547A>T (p.Thr183Ser) c.*269A>T (n.*269A>T) | |
2 | g.169493766C>A | CA349164982 | BBS5 | c.548C>A (p.Thr183Asn) c.*270C>A (n.*270C>A) | |
2 | g.169493766C>G | CA349164983 | BBS5 | c.548C>G (p.Thr183Ser) c.*270C>G (n.*270C>G) | |
2 | g.169493766C>T | CA349164984 | BBS5 | c.548C>T (p.Thr183Ile) c.*270C>T (n.*270C>T) | |
2 | g.169493767C>A | CA429923184 | BBS5 | c.549C>A (p.Thr183=) c.*271C>A (n.*271C>A) | |
2 | g.169493767C>G | CA429923186 | BBS5 | c.549C>G (p.Thr183=) c.*271C>G (n.*271C>G) | |
2 | g.169493767C>T | CA429923187 | BBS5 | c.549C>T (p.Thr183=) c.*271C>T (n.*271C>T) | |
2 | g.169493768A>C | CA349164985 | BBS5 | c.550A>C (p.Asn184His) c.*272A>C (n.*272A>C) | gnomAD v4 |
2 | g.169493768A>G | CA349164986 | BBS5 | c.550A>G (p.Asn184Asp) c.*272A>G (n.*272A>G) | gnomAD v4 |
2 | g.169493768A>T | CA349164987 | BBS5 | c.550A>T (p.Asn184Tyr) c.*272A>T (n.*272A>T) | |
2 | g.169493768_169493770dup | CA2580064502 | BBS5 | c.550_552dup (p.Asn184_Val185insAsn) c.*272_*274dup (n.*272_*274dup) | ClinVar |
2 | g.169493769A= | CA1306471322 | BBS5 | c.551A= (p.Asn184=) c.*273A= (n.*273A=) | |
2 | g.169493769A>C | CA349164988 | BBS5 | c.551A>C (p.Asn184Thr) c.*273A>C (n.*273A>C) | |
2 | g.169493769A>G | CA179794 | BBS5 | c.551A>G (p.Asn184Ser) c.*273A>G (n.*273A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169493769A>T | CA349164989 | BBS5 | c.551A>T (p.Asn184Ile) c.*273A>T (n.*273A>T) | |
2 | g.169493770T>A | CA349164990 | BBS5 | c.552T>A (p.Asn184Lys) c.*274T>A (n.*274T>A) | |
2 | g.169493770T>C | CA429923190 | BBS5 | c.552T>C (p.Asn184=) c.*274T>C (n.*274T>C) | gnomAD v4 |
2 | g.169493770T>G | CA349164991 | BBS5 | c.552T>G (p.Asn184Lys) c.*274T>G (n.*274T>G) | |
2 | g.169493771G>A | CA349164994 | BBS5 | c.553G>A (p.Val185Met) c.*275G>A (n.*275G>A) | |
2 | g.169493771G>C | CA349164993 | BBS5 | c.553G>C (p.Val185Leu) c.*275G>C (n.*275G>C) | dbSNP |
2 | g.169493771G= | CA1306471323 | BBS5 | c.553G= (p.Val185=) c.*275G= (n.*275G=) | |
2 | g.169493771G>T | CA349164992 | BBS5 | c.553G>T (p.Val185Leu) c.*275G>T (n.*275G>T) | |
2 | g.169493772T>A | CA349164995 | BBS5 | c.554T>A (p.Val185Glu) c.*276T>A (n.*276T>A) | |
2 | g.169493772T>C | CA349164996 | BBS5 | c.554T>C (p.Val185Ala) c.*276T>C (n.*276T>C) | |
2 | g.169493772T>G | CA349164997 | BBS5 | c.554T>G (p.Val185Gly) c.*276T>G (n.*276T>G) | gnomAD v4 |
2 | g.169493773G>A | CA429923195 | BBS5 | c.555G>A (p.Val185=) c.*277G>A (n.*277G>A) | gnomAD v4 |
2 | g.169493773G>C | CA429923196 | BBS5 | c.555G>C (p.Val185=) c.*277G>C (n.*277G>C) | gnomAD v4 |
2 | g.169493773G>T | CA429923194 | BBS5 | c.555G>T (p.Val185=) c.*277G>T (n.*277G>T) | |
2 | g.169493774A>C | CA429923198 | BBS5 | c.556A>C (p.Arg186=) c.*278A>C (n.*278A>C) | gnomAD v4 |
2 | g.169493774A>G | CA349164998 | BBS5 | c.556A>G (p.Arg186Gly) c.*278A>G (n.*278A>G) | |
2 | g.169493774A>T | CA349164999 | BBS5 | c.556A>T (p.Arg186Ter) c.*278A>T (n.*278A>T) | |
2 | g.169493774_169493775delinsTA | CA2739271611 | BBS5 | c.556_557delinsTA (p.Arg186Ter) c.*278_*279delinsTA (n.*278_*279delinsTA) | ClinVar |
2 | g.169493775G>A | CA349165000 | BBS5 | c.557G>A (p.Arg186Lys) c.*279G>A (n.*279G>A) | |
2 | g.169493775G>C | CA349165001 | BBS5 | c.557G>C (p.Arg186Thr) c.*279G>C (n.*279G>C) | gnomAD v4 |
2 | g.169493775G>T | CA349165002 | BBS5 | c.557G>T (p.Arg186Ile) c.*279G>T (n.*279G>T) | |
2 | g.169493776A= | CA1306471324 | BBS5 | c.558A= (p.Arg186=) c.*280A= (n.*280A=) | |
2 | g.169493776A>C | CA349165003 | BBS5 | c.558A>C (p.Arg186Ser) c.*280A>C (n.*280A>C) | |
2 | g.169493776A>G | CA429923203 | BBS5 | c.558A>G (p.Arg186=) c.*280A>G (n.*280A>G) | |
2 | g.169493776A>T | CA349165004 | BBS5 | c.558A>T (p.Arg186Ser) c.*280A>T (n.*280A>T) | |
2 | g.169493777A>C | CA349165005 | BBS5 | c.559A>C (p.Ile187Leu) c.*281A>C (n.*281A>C) | |
2 | g.169493777A>G | CA349165006 | BBS5 | c.559A>G (p.Ile187Val) c.*281A>G (n.*281A>G) | |
2 | g.169493777A>T | CA349165007 | BBS5 | c.559A>T (p.Ile187Phe) c.*281A>T (n.*281A>T) | |
2 | g.169493777_169493778insGA | CA1306471325 | BBS5 | c.559_560insGA (p.Ile187ArgfsTer8) c.*281_*282insGA (n.*281_*282insGA) | ClinVar dbSNP gnomAD v4 |
2 | g.169493778T>A | CA349165009 | BBS5 | c.560T>A (p.Ile187Asn) c.*282T>A (n.*282T>A) | |
2 | g.169493778T>C | CA349165010 | BBS5 | c.560T>C (p.Ile187Thr) c.*282T>C (n.*282T>C) | gnomAD v4 |
2 | g.169493778T>G | CA349165008 | BBS5 | c.560T>G (p.Ile187Ser) c.*282T>G (n.*282T>G) | dbSNP gnomAD v4 |